Phẫu Thuật Tạo Hình (Tập 3): Sọ Mặt, Đầu Cổ Và Nhi Khoa – Neligan (Ấn bản 4)

754
SECTION II
CHAPTER 32 • Nonsyndromic craniosynostosis
H
I
J
K
(H, I) Postoperative CT scans. (J, K) Postoperative photographs.
Fig. 32.14, cont’d
A
B
C
D
E
Fig. 32.15  Treatment of right unicoronal synostosis. (A) Preoperative frontal photograph. (B, C) Preoperative computed tomography (CT) scans. (D) Intraoperative:
craniotomy and hemi-bandeau. (E, F) Intraoperative: bandeau positioning and overcorrection.

755
Postoperative care
(G) Intraoperative: fixation with resorbable plates. (H, I) Postoperative CT. (J) Postoperative photograph.
Fig. 32.15, cont’d
F
G
H
I
J
of these complications are related to the semi-buried nature
of distraction devices.
There has also been use of DO in single suture nonsyn­
dromic craniosynostosis. This was pioneered in Asia for
fronto-orbital advancement. DO has also been used to expand
most other cranial suture fusion patterns. Hirabayashi et al.
first reported the clinical use of distraction for fronto-orbital
advancement in an infant with brachycephaly.90 A multitude
of examples have since been reported, including for single
suture involvement, multisuture synostosis,91 and both syn­
dromic and nonsyndromic children. DO has been used to treat
metopic,92 unicoronal,64,93,94 and lambdoidal95 synostosis. The
future may bring advances that expand common use of DO
for other synostosis. There may be a potential to remove the
distractor arm non-invasively, obviating the need for an
additional operation as has been demonstrated in distractors
mounted on absorbable foot plates.96
Postoperative care
In general, all patients undergoing primary cranial vault
surgery should be admitted to the ICU postoperatively. In
the authors’ institution this also includes minimally invasive
surgery such as spring-mediated cranioplasty. This allows
for close monitoring of hemodynamic and neurologic status.
Recovery should be targeted with the goal of oral intake as
soon as possible. Blood products are given as needed for
hemodynamic instability or blood loss anemia. Pain control
in infants is typically multimodal and includes oral/rectal/
intravenous acetaminophen as well as oral/intravenous nar­
cotic when needed. Perioperative antibiotics are administered
for 72 hours. There is no data in the literature to support a
specific antibiotic regimen for these patients, but the rates of
surgical site infections are very low in reported series. The

756
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CHAPTER 32 • Nonsyndromic craniosynostosis
these reasons the authors’ philosophy has shifted to an “only
when necessary” mentality. For the purposes of teaching and
learning, many prior examples are available. The child is
typically discharged from the hospital on the third or fourth
postoperative day. The first follow-up visit takes place at 3–4
weeks, with subsequent visits typically at 12 weeks, 6 months,
1 year, and annually or biennially thereafter.
Outcomes
Outcomes in craniosynostosis surgery can be broadly sepa­
rated into three categories: measures of perioperative safety,
cognitive and developmental effects, and aesthetic results.
Perioperative complications
Complications may occur in the operating room or in the
immediate postoperative period. These can be serious –
deaths after vault remodeling have been reported. However,
reported complication rates, including at the authors’ institu­
tion, are very low. In their series, the authors reported a major
complication rate of 1.1% and a minor complication rate of
3.5% in 746 patients with nonsyndromic single suture syn­
ostosis.100 Bleeding during surgery and afterward is the most
craniofacial dressing is removed on the second postoperative
day. Output from the subgaleal drain is monitored, emptied,
and recorded regularly. Typically the drain is removed on
the third postoperative day, regardless of output quantity, so
long as the drainage is serosanguinous. In cases where the
drainage is clear, and/or known dural tears or CSF leaks are
present, a trial of clamping or removing the Jackson–Pratt (JP)
drain from suction, alternating with restoration of suction, can
be pursued. This prevents continual active suction of CSF and
encourages the dural defect to close.
Parents are advised that, although not usually present
immediately postoperatively, significant periorbital edema
will ensue, peaking on the second or third postoperative day,
in infants who have undergone frontal reconstruction. Chil­
dren who have undergone posterior reconstruction, and were
positioned prone, are likely to have periorbital edema immedi­
ately postoperatively from prolonged positional dependence.
Measures to minimize postoperative edema include gentle
dissection along anatomical planes, intraoperative local injec­
tion of steroid periorbitally, and systemic administration of
corticosteroids.97–99 In the past, a 3D head CT was routinely
obtained postoperatively. This pattern has changed in light
of more experience and evidence of the harmful nature of
the associated ionizing radiation in children. In very young
patients the CT scan also may require an anesthetic, and for
Fig. 32.16  Treatment of
lambdoid synostosis.
(A, B) Switch cranioplasty
and occipital bar
advancement. (C, D) Before
and after head shape, from
posterior.
A
B
C
D

757
Outcomes
subcranial or parenchymal hemorrhage (epidural, subdural,
intraparenchymal). The patient’s hemodynamic status, urine
output, and neurologic exam must be watched closely in the
ICU in the early postoperative period (48 to 72 hours). Mental
status changes or seizures prompt an emergent head CT scan
to investigate for hemorrhage and if confirmed would likely
prompt an emergent return to the operating room for evacu­
ation. Complete blood count and coagulation laboratories
should be closely monitored with a low threshold for clotting
factor and platelet replacement if necessary. Implementing an
evidence-based protocol for transfusion can limit the patient’s
exposure to blood products, as the authors have done at their
institution.101
Rare reports of optic nerve injury or infarction can lead to
blindness following cranial vault reconstruction. One reported
case indicated a delayed presentation, after discharge from
the hospital, thought to be an ischemic bilateral optic nerve
injury predisposed by prolonged prone position and blood
loss.102
Infection is also a risk. This may include surgical site infec­
tion, line infections, osteomyelitis of bone grafts, and menin­
gitis. All of these infections occur at low rates in this patient
population. The risk for meningitis may be increased by dural
injury intraoperatively with subsequent cerebrospinal fluid
leak. If recognized, dural injuries should be repaired. Osteo­
myelitis of repositioned bone plates is a rare, but potentially
devastating, complication associated with cranial vault
remodeling.103 Thankfully these infections are also extremely
rare. Infection is more apt to occur in older children where
sinus boundaries are crossed. If recognized early, limited
debridement and administration of both parenteral and local
(e.g., catheter irrigation) antibiotics can eradicate the infection
and encourage bone healing. With late presenting or more
widespread infection, significant debridement and ostectomy
may be required, leaving spans of unprotected dura. This
frequently necessitates long-term antimicrobial therapy and
staged reconstruction of the calvarial vault.
Neurocognitive outcomes
The precise impact of nonsyndromic craniosynostosis on both
unrepaired and repaired patients is unknown.104–106 This rep­
resents a challenge for research because of the longitudinal
nature of the follow-up that is required. Early studies were
beset with methodologic problems including lack of controls
and poor testing modalities. But evidence is now mounting
in young children and school-age children that cognitive defi­
cits are present even after early correction of nonsyndromic
craniosynostosis. Speltz and colleagues have studied this
topic extensively in a multi-institutional fashion. In 2015, they
published a study examining single suture craniosynostosis
patients compared to a control group into school age (age 7).107
The findings of this study show that craniosynostosis patients
score lower on all intelligence tests used (IQ 2.5 to 4 points
lower, 0.25–0.5 SD), are more than twice as likely to have
learning delay, and 42% have learning disability compared to
33% in the control group. Subgroup analysis shows that the
differences between the patients and controls are larger in the
patients with unicoronal and lambdoid synostosis. This paper
does not draw conclusion about the cause of these delays.
Importantly, the control patients are well matched in terms of
gender, age, and parental intelligence. The actual differences
common problem encountered. As discussed above, a number
of measures are taken to limit blood loss and a number of
strategies are used to resuscitate patients. At the authors’
institution, 2 units of cross-matched whole blood and 1 unit
of packed red blood cells are reserved for each patient, and
infusion is begun when incision is made. All of these efforts
are made to avoid hypovolemia, shock, and coagulopathy.
Typically upon closure most bleeding has subsided and does
not continue. Postoperative bleeding may occur and may be
in the form of ongoing drainage in a closed suction drain, a
hematoma below the scalp flap, or in more serious cases a
A
Fig. 32.17  Posterior vault distraction osteogenesis (PVDO). (A) Skull X-ray
immediately after surgery demonstrates hardware before distraction has begun. Note
the anteriorly oriented activation arms and the presence of a VP shunt. The precise
position of the distractors is influenced by the shape of the skull and presence of
obstacles such as a shunt. Typically they are fairly lateral. (B) Skull X-ray after full
activation of 30mm distractors. A shelf in the occiput has been mitigated by low
barrel stave outfracturing at the initial operation.
B

758
SECTION II
CHAPTER 32 • Nonsyndromic craniosynostosis
(Box 32.1) was developed to broadly classify the aesthetic
outcomes of this diverse group of patients. The classification
is stratified based on increasing need for revision: I, excellent
result, no revision necessary; II, satisfactory result, soft-tissue
revision indicated; III, marginal result, bony irregularities
present, requiring bony contouring; IV, unacceptable result,
repeat craniotomy and/or fronto-orbital reshaping neces­
sary.111 The term relapse has been used for these Whitaker IV
patients, but the situation is likely more complex. These
patients more likely were both undercorrected at the time of
initial surgery, and their continued cranial growth may have
also been negatively impacted by surgery. In a review of
nonsyndromic patients from the authors’ institution, it was
found that while only 3.4% were Whitaker class IV with
greater than one year follow-up, over 35% were Whitaker
class III. This analysis confirmed that overcorrection leads to
improved long-term outcomes though the exact degree of
overcorrection is still unknown. Temporal hollowing and
supraorbital retrusion were a vast majority of the defects112
(Fig. 32.18). Teenagers and adults are understandably resistant
to major operative revision of a suboptimal result from infancy.
Therefore, it is critical to continue to follow results to maturity
and to refine techniques that ensure high-quality outcomes.
Our analysis suggests that reoperation rates are a poor sur­
rogate for aesthetic outcomes.
Fig. 32.18  (A–C) Temporal hollowing after frontal orbital advancement.
A
B
C
in scoring may in reality be wider because craniosynostosis
patients receive specialized assistance at higher rates than
control patients. The argument has been made that early cor­
rection of craniosynostosis may lead to better neurocognitive
outcomes, but in this study the patients underwent correction
at 7.4 months of age. Other data has failed to show significant
differences between cases and control.107 Birgfeld et al. exam­
ined the impact of anesthetic duration using the Bayley
Scales of Infant Development.106 This study demonstrated that
increased anesthetic exposure is associated with decreased
neurodevelopmental outcomes and that non-sagittal synosto­
ses perform worse than sagittal. A systematic review in
2014 demonstrated that of the 33 studies evaluated, most
found decreased intelligence in patients with single suture
craniosynostosis.108
Persing et al. have also made significant recent contribu­
tions to this literature. In a study of nonsyndromic sagittal
craniosynostosis (n=70), they found that patients treated later
(after 12 months) fared significantly worse in terms of IQ
compared to those patients treated earlier. The group who
was treated at less than 6 months of age had the best IQ scores
and the lowest rates of learning disabilities.109 In another
similar study there was a suggestion that cranial vault remod­
eling produced better intelligence than a less invasive tech­
nique (strip suturectomy).110
Understanding the neurocognitive effects in nonsyndromic
craniosynostosis remains a challenge. The role of surgery in
mitigating intelligence losses and behavioral problems is
unknown. This is further complicated by emerging data that
volatile anesthetics may have long-lasting negative neurocog­
nitive impacts as well.
Aesthetic outcomes
The aesthetic results of craniosynostosis reconstruction are
related to the balance of final bony position at the time of
surgery and ultimate craniofacial growth as the patient
matures to adulthood. In addition to this, resorption of bone
grafts and incomplete ossification of bony gaps may lead to
additional contour irregularities. The Whitaker classification
BOX 32.1  Whitaker classification for surgical revision
I. Excellent result, no revisions necessary
II. Satisfactory result, soft-tissue revision indicated
III. Marginal result, bony irregularities present, requiring contouring
with bone grafts or alloplast/osteobiologicals
IV. Unacceptable result, repeat craniotomy and/or fronto-orbital
reshaping necessary
(Reproduced from Whitaker LA, Bartlett SP, Schut L, et al. Craniosynostosis: an
analysis of the timing, treatment, and complications in 164 consecutive patients.
Plast Reconstr Surg. 1987;80:195.)

759
Secondary procedures
When craniosynostosis surgery is done before the age of
one year, many bony gaps will reossify via edgewise and
dural osteogenesis. Despite this, sizeable full-thickness cranial
gaps may occur in these patients. The authors’ preferred
method for filling these gaps at the time of primary surgery
has evolved to cranial bone shavings. Anecdotally this appears
to have decreased dramatically the number of sizeable
defects.113 In older children there is the concern that these
full-thickness gaps may put the child at risk for traumatic
brain injury. Such injuries in craniosynostosis have never been
reported, but it remains a concern. For that reason it is the
authors’ practice to repair the larger gaps with titanium mesh
cranioplasty. This is often combined with revision contouring.
In general, split calvarial grafts are no longer used for this
purpose. Contour irregularities are typically treated with
bone cement (see below).
Besides cranioplasty for incompletely ossified cranial gaps
and contouring for bony irregularities (often at the interface
of reconstructed bone grafts), there are also patients who have
essentially outgrown their original repair. This is likely a
combination of continued craniofacial growth outside of the
operated area and a loss of growth potential within the recon­
struction (e.g. the supraorbital bandeau and frontal bone).72
This small number of patients with a Whitaker IV result have
guided the philosophy and debate regarding proper tech­
niques in craniosynostosis surgery. Good arguments can be
made for avoiding a disruption of future growth potential by
using minimally invasive techniques (spring-mediated cra­
nioplasty, strip suturectomy with helmeting); however, long-
term outcomes are largely not available for these newer
techniques. For conventional vault reconstruction, many
advocate for overcorrection. This applies to each of the suture
fusion patterns. In metopic synostosis, the supraorbital
bandeau should be over-widened and over-advanced. The
frontal bone (forehead) is similarly widened and advanced in
continuity with this. Unicoronal synostosis should be treated
similarly particularly if one avoids operating on the unaf­
fected (contralateral) orbit. In staged vault reconstruction for
sagittal reconstruction, the biparietal diameter should be
overcorrected particularly in the first stage posterior vault
operation when the child is an infant. Practically speaking, it
must be recognized that the soft-tissue envelope may not
tolerate extreme overcorrection. This has forced instances in
which disassembly and reduction of the expanded skeleton
must be performed to allow for skin closure. The observation
that a higher rate of results requiring revision occur in patients
who had their first surgery at a young age (<6 months) has
prompted a call for delaying initial surgery.57,72,114 This desire
is tempered by a concern for adequate room for brain devel­
opment and the avoidance of potential elevated ICP.
The reports of long-term outcomes in terms of Whitaker
classification vary widely as do the rates of reoperation. In
a recent review at the authors’ institution, 207 patients
with nonsyndromic craniosynostosis were examined, with an
average follow-up of 6.2 years after surgery. It was found that
a majority of patients (55%) were Whitaker I, but importantly
35% were Whitaker III. This is a significant number of patients,
and the study also revealed that deformities such as supraor­
bital retrusion were more likely with longer follow-up.112 This
number of Whitaker III results was quite similar to our prior
report on specifically metopic craniosynostosis with 178
patients and 5.8 years of follow up.115 As with many other
studies, the number of Whitaker IV patients was very low
(1.5-3%). The reoperative rates for these studies was approxi­
mately 11%.
Two other long-term aesthetic problems are coronal scar
widening and temporal hollowing after fronto-orbital pro­
cedures. The coronal scar may widen and, as previously dis­
cussed, is made less conspicuous through use of a non-linear
pattern. To avoid widening, a careful galeal closure must be
performed though with a large advancement and continued
rapid growth of a young patient it may be inevitable. Scar
revisions are well tolerated and may be done at any point.
Temporal hollowing is a controversial issue and is likely the
result of a combination of temporal muscle and underlying
cranial bone abnormalities. The temporalis muscle, when dis­
rupted during exposure, may be inadequately resuspended,
malpositioned (i.e. not advanced with the bandeau), or injured
during dissection resulting in atrophy. The handling of the
muscle by surgeons is variable, with some preferring to dissect
it separately and others elevating the muscle within the scalp
as a unit, ensuring suspension upon closure.116–118 Cranial bone
morphology certainly plays some role in temporal hollowing
as well. In patients with unicoronal craniosynostosis, this
is likely related to the preoperative morphology as well as
to a deficiency of growth following frontal orbital advance­
ment. Strategies for treating temporal hollowing include
soft-tissue augmentation with fat grafting, onlay cranioplasty
to augment bony insufficiency, and temporalis muscle resus­
pension or some combination thereof. While fat grafting has
been used to mask this hollowing, the superficial fat content
does not appear to be different in patients with unicoronal
synostosis.
Secondary procedures
In general, revision surgery is guided by the desires of the
patients and their parents. Revision of cranial deformities are
divided into two groups – redo surgery and contouring. Redo
surgery is fairly uncommon and is based on the principles
utilized during primary correction. In general contouring
surgery allows for the treatment of any cranial gaps and the
repair of bothersome contour irregularities or slight under­
corrections. As mentioned above, the authors’ choice for
cranioplasty is typically titanium mesh. This material is rarely
infected, though it has been reported to infrequently erode
through the scalp. For smoothing and minimal correction, the
authors’ preference is the addition of bone cement (Cranios;
Synthes, Solothurn, Switzerland). This is fast-setting calcium
phosphate cement. It must be used under strict sterile condi­
tions, and it should only be used as a very thin contouring
substance. Contamination and infection can be catastrophic
with bone cement necessitating difficult explant procedures.
Additionally when applied too thickly, the cement in the
long term can fracture and deform. When used correctly and
encountered years later, the cement will have maintained its
form and may become vascularized by ingrowth.119
Scar revision can be performed at any time by excision,
either as a singular procedure, or frequently whenever the
coronal incision is reopened to address deeper bony contour
irregularities. A wide, hairless scar can be noticeable and
bothersome, especially when hair is worn short or is thin in

760
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CHAPTER 32 • Nonsyndromic craniosynostosis
contribute to the differential brow position (relatively raised
or lowered). For instance, supraorbital ridge retrusion and
flattening of the forehead may position the brow higher (akin
to the original deformity in UCS). In these instances, bony
augmentation of the supraorbital region will aid in properly
positioning the brow. Soft-tissue brow-lifting procedures are
numerous in the aesthetic literature. Common effective pro­
cedures include rotation of the coronal flap away from the
side of desired lift and bone fixation and suture techniques.122,123
A combination of addressing the underlying bony support
and soft-tissue browpexy techniques should be employed to
correct brow position effectively. There are several techniques
to perform canthopexy for differential angulation of the lateral
canthal position (most typically seen in UCS).124 This may be
performed at the time of the initial fronto-orbital reshaping,
but it is controversial as to whether a canthopexy is always
necessary. As a delayed procedure, the canthopexy technique
could involve osseous wiring, deep and superior to the zygo­
maticofrontal suture.125 Other suture approaches have been
reported and involve the lateral canthal tendon or lateral
palpebral commissure and periosteum of the internal lateral
orbital rim.126 Strabismus surgery and ptosis repair are outside
the scope of this chapter; however, they may be necessary and
are typically performed by the ophthalmologist member of
the craniofacial team.
caliber. Closure under tension, from a significant osseous
advancement, and genetic propensity contribute to thick
unaesthetic scars. Attempts to avoid unsightly scars on initial
closure include a trichophytic closure, and limited use of both
electrocautery and compressive scalp clips, though despite
the best efforts, scarring remains unpredictable.
Fat-grafting techniques can serve to camouflage hollow
areas or depressions. Most commonly, temporal concavities
can be observed following fronto-orbital advancement proce­
dures as a result of bony deficiency.120 Though not addressing
the tissue type responsible for the problem, fat grafting is a
less invasive technique to provide bulk and improve contour
in these areas.121 The principal issue relates to its unpredict­
ability, in terms of how much resorbs. Patients may require
several repeat rounds of fat injections. Depression of medial
epicanthal folds may be witnessed following trigonocephaly
correction. This can be alleviated by using an onlay bone graft
to the depressed nasal radix (effectively tenting up the medial
soft tissue).
Periocular surgery is another category of revision after
craniosynostosis repair. This falls into the broad categories of
brow position, lid position/function, canthal position, and
extraocular muscle imbalance. Asymmetric brow position
may be addressed as a secondary procedure. The practitioner
should recognize that underlying bone asymmetries may
2. Selber J, Reid RR, Chike-Obi CJ, et al. The changing epidemiologic
spectrum of single-suture synostoses. Plast Reconstr Surg.
2008;122:527–533. This series relied upon approximately 800 patients
with nonsyndromic synostosis to derive epidemiologic patterns. There
was a relative increase in metopic patients and a relative decrease in
unicoronal patients. These findings are corroborated by other similar
series.
40. Basta MN, Stricker PA, Taylor JA. A systematic review of the use
of antifibrinolytic agents in pediatric surgery and implications for
craniofacial use. Pediatr Surg Int. 2012;28:1059–1069. This systematic
review examined the available literature for evidence on the efficacy of
blood loss reducing agents in use for craniosynostosis surgery.
Antifibrinolytics reduced blood loss and transfusion volume but did not
demonstrate increased risk for adverse outcomes.
43. Naran S, Cladis F, Fearon J, et al. Safety of preoperative
erythropoietin in surgical calvarial remodeling: an 8-year
retrospective review and analysis. Plast Reconstr Surg.
2012;130:305e–310e.
47. Jimenez DF, Barone CM. Early treatment of anterior calvarial
craniosynostosis using endoscopic-assisted minimally invasive
techniques. Childs Nerv Syst. 2007;23:1411–1419.
54. David LR, Plikaitis CM, Couture D, et al. Outcome analysis of our
first 75 spring-assisted surgeries for scaphocephaly. J Craniofac
Surg. 2010;21:3–9.
57. Fearon JA, McLaughlin EB, Kolar JC. Sagittal craniosynostosis:
surgical outcomes and long-term growth. Plast Reconstr Surg.
2006;117:532–541. A series of approximately 40 patient surgically
treated for sagittal synostosis. The series provided long term
measurements of head shape and growth with an average follow up of 4.7
years. The paper finds relapse of cephalic index over time and suggest
impaired growth over time.
63. Lauritzen CGK, Davis C, Ivarsson A, et al. The evolving role of
springs in craniofacial surgery: the first 100 clinical cases. Plast
Reconstr Surg. 2008;121:545–554. A series of 100 patients treated with
spring assisted expansion. This demonstrated a 5% rate of reoperation
for additional expansion and a low rate of hardware failure.
100. Tahiri Y, Paliga JT, Wes AM, et al. Perioperative complications
associated with intracranial procedures in patients with
nonsyndromic single-suture craniosynostosis. J Craniofac Surg.
2015;26:118–123.
107. Speltz ML, Collett BR, Wallace ER, et al. Intellectual and academic
functioning of school-age children with single-suture
craniosynostosis. Pediatrics. 2015;135:e615–e623. This series compared
the IQ/intellectual outcomes of 182 single suture craniosynostosis
patients to 183 controls. Patients were evaluated preoperatively and at 18
months, 36 months, and 7 years. This study demonstrates decreased
measures of IQ and other specific cognitive abilities in craniosynostosis
patients in school age.
112. Taylor JA, Paliga JT, Wes AM, et al. A critical evaluation of
long-term aesthetic outcomes of fronto-orbital advancement and
cranial vault remodeling in nonsyndromic unicoronal
craniosynostosis. Plast Reconstr Surg. 2015;135:220–231.
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after the ‘back to sleep’ campaign. J Craniofac Surg. 2015;26:
147–150.
21. Rogers GF, Oh AK, Mulliken JB. The role of congenital muscular
torticollis in the development of deformational plagiocephaly. Plast
Reconstr Surg. 2009;123:643–652.
22. Tuite G, Evanson J, Chong W. The beaten copper cranium: a
correlation between intracranial pressure, cranial radiographs, and
computed tomographic scans in children with craniosynostosis.
Neurosurgery. 1996;39:691–699.
23. Seruya M, Borsuk DE, Khalifian S, et al. Computer-aided design
and manufacturing in craniosynostosis surgery. J Craniofac Surg.
2013;24:1100–1105.
24. Brenner D, Hall E. Computed tomography—an increasing source
of radiation exposure. N Engl J Med. 2007;357:2277–2284.
25. Weinzweig J, Kirschner RE, Farley A, et al. Metopic synostosis:
Defining the temporal sequence of normal suture fusion and
differentiating it from synostosis on the basis of computed
tomography images. Plast Reconstr Surg. 2003;112:1211–1218.
26. Tubbs RS, Elton S, Blount JP, Oakes WJ. Preliminary observations
on the association between simple metopic ridging in children
without trigonocephaly and the Chiari I malformation. Pediatr
Neurosurg. 2001;35:136–139.
27. Van der Meulen J. Metopic synostosis. Childs Nerv Syst.
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28. Beckett JS, Chadha P, Persing JA, Steinbacher DM. Classification of
trigonocephaly in metopic synostosis. Plast Reconstr Surg.
2012;130:442e–447e.
29. Williams JK, Ellenbogen RG, Gruss JS. State of the art in
craniofacial surgery: nonsyndromic craniosynostosis. Cleft Palate
Craniofac J. 1999;36:471–485.
30. Wagner J, Cohen S. Critical analysis of results of craniofacial
surgery for nonsyndromic bicoronal synostosis. J Craniofac Surg.
1995;6:32–37, discussion 38–39.
31. Kadlub N, Persing JA, da Silva Freitas R, Shin JH. Familial
lambdoid craniosynostosis between father and son. J Craniofac
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32. Ploplys EA, Hopper RA, Muzaffar AR, et al. Comparison of
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findings in children with unilateral lambdoid synostosis. Plast
Reconstr Surg. 2009;123:300–309.
33. Smartt JM, Reid RR, Singh DJ, Bartlett SP. True lambdoid
craniosynostosis: long-term results of surgical and conservative
therapy. Plast Reconstr Surg. 2007;120:993–1003.
34. Raboel P, Bartek J. Intracranial pressure monitoring: invasive
versus non-invasive methods—a review. Crit Care Res Pract.
2012;2012:950393.
35. Tuite GF, Chong WK, Evanson J, et al. The effectiveness of
papilledema as an indicator of raised intracranial pressure in
children with craniosynostosis. Neurosurgery. 1996;38:272–278.
36. Marchac D, Renier D. Craniofacial surgery for craniosynostosis
improves facial growth: a personal case review. Ann Plast Surg.
1985;14:43–54.
37. Faberowski L, Black S, Mickle J. Incidence of venous air embolism
during craniectomy for craniosynostosis repair. Anesthesiology.
2000;92:20–23.
38. White N, Bayliss S, Moore D. Systematic review of interventions
for minimizing perioperative blood transfusion for surgery for
craniosynostosis. J Craniofac Surg. 2015;26:26–36.
39. Papay FA, Stein J, Luciano M, Zins JE. The microdissection cautery
needle versus the cold scalpel in bicoronal incisions. J Craniofac
Surg. 1998;9:344–347.
40. Basta MN, Stricker PA, Taylor JA. A systematic review of the use
of antifibrinolytic agents in pediatric surgery and implications for
craniofacial use. Pediatr Surg Int. 2012;28:1059–1069. This systematic
review examined the available literature for evidence on the efficacy of
blood loss reducing agents in use for craniosynostosis surgery.
Antifibrinolytics reduced blood loss and transfusion volume but did not
demonstrate increased risk for adverse outcomes.
41. Dadure C, Sauter M, Bringuier S. Intraoperative tranexamic acid
reduces blood transfusion in children undergoing craniosynostosis
surgery: a randomized double-blind study. Anesthesiology.
2011;114:856–861.
42. Fearon J, Weinthal J. The use of recombinant erythropoietin in the
reduction of blood transfusion rates in craniosynostosis repair in
infants and children. Plast Reconstr Surg. 2002;109:2190–2196.

760.e2
SECTION II
CHAPTER 32 • Nonsyndromic craniosynostosis
43. Naran S, Cladis F, Fearon J, et al. Safety of preoperative
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44. Francel PC, Bell A, Jane JA. Operative positioning for patients
undergoing repair of craniosynostosis. Neurosurgery. 1994;35:304–
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45. Munro IR, Fearon JA. The coronal incision revisited. Plast Reconstr
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46. Persing J. MOC-PS (SM) CME article: management considerations
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47. Jimenez DF, Barone CM. Early treatment of anterior calvarial
craniosynostosis using endoscopic-assisted minimally invasive
techniques. Childs Nerv Syst. 2007;23:1411–1419.
48. Fearon JA, Munro IR, Bruce DA. Observations on the use of rigid
fixation for craniofacial deformities in infants and young children.
Plast Reconstr Surg. 1995;95:634–637, discussion 638.
49. Persing JA, Posnick J, Magge S, et al. Cranial plate and screw
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50. Yu JC, Bartlett SP, Goldberg DS, et al. An experimental study of
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51. Doumit GD, Papay FA, Moores N, Zins JE. Management of sagittal
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52. Jimenez D, Barone C. Endoscopic craniectomy for early surgical
correction of sagittal craniosynostosis. J Neurosurg. 1998;88:77–81.
53. Lauritzen C, Sugawara Y, Kocabalkan O, Olsson R. Spring
mediated dynamic craniofacial reshaping. Case report. Scand J
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54. David LR, Plikaitis CM, Couture D, et al. Outcome analysis of our
first 75 spring-assisted surgeries for scaphocephaly. J Craniofac
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55. Taylor JA, Maugans TA. Comparison of spring-mediated
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56. Arko L, Swanson JW, Fierst TM, et al. Spring-mediated sagittal
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Philadelphia: technical notes and literature review. Neurosurg
Focus. 2015;38:E7.
57. Fearon JA, McLaughlin EB, Kolar JC. Sagittal craniosynostosis:
surgical outcomes and long-term growth. Plast Reconstr Surg.
2006;117:532–541. A series of approximately 40 patient surgically
treated for sagittal synostosis. The series provided long term
measurements of head shape and growth with an average follow up of 4.7
years. The paper finds relapse of cephalic index over time and suggest
impaired growth over time.
58. Jane JA, Edgerton MT, Futrell JW, Park TS. Immediate correction
of sagittal synostosis. J Neurosurg. 1978;49:705–710.
59. Weinzweig J, Baker SB, Whitaker LA, et al. Delayed cranial vault
reconstruction for sagittal synostosis in older children: an
algorithm for tailoring the reconstructive approach to the
craniofacial deformity. Plast Reconstr Surg. 2002;110:397–408.
60. Gerety PA, Basta MN, Fischer JP, Taylor JA. Operative
management of nonsyndromic sagittal synostosis: a head-to-head
meta-analysis of outcomes comparing 3 techniques. J Craniofac
Surg. 2015;26:1251–1257.
61. Marchac D, Renier D. [The ‘floating forehead’. Early treatment of
craniofacial stenosis]. Ann Chir Plast. 1979;24:121–126.
62. Selber J, Reid R, Gershman B. Evolution of operative techniques
for the treatment of single-suture metopic synostosis. Ann Plast
Surg. 2007;59:6–13.
63. Lauritzen CGK, Davis C, Ivarsson A, et al. The evolving role of
springs in craniofacial surgery: the first 100 clinical cases. Plast
Reconstr Surg. 2008;121:545–554. A series of 100 patients treated with
spring assisted expansion. This demonstrated a 5% rate of reoperation
for additional expansion and a low rate of hardware failure.
64. Choi JW, Ra YS, Hong SH, et al. Use of distraction osteogenesis to
change endocranial morphology in unilateral coronal
craniosynostosis patients. Plast Reconstr Surg. 2010;126:995–1004.
65. Yee ST, Fearon JA, Gosain AK, et al. Classification and
management of metopic craniosynostosis. J Craniofac Surg.
2015;26:1812–1817.
66. Bartlett S, Whitaker L, Marchac D. The operative treatment of
isolated craniofacial dysostosis (plagiocephaly): a comparison of
the unilateral and bilateral techniques. Plast Reconstr Surg.
1990;85:677–683.
67. Fearon JA. Beyond the bandeau: 4 variations on fronto-orbital
advancements. J Craniofac Surg. 2008;19:1180–1182.
68. Anderson PJ, David DJ. Late results after unicoronal
craniosynostosis correction. J Craniofac Surg. 2005;16:37–44.
69. Al-Jabri T, Eccles S. Surgical correction for unilateral lambdoid
synostosis: a systematic review. J Craniofac Surg. 2014;25:1266–1272.
70. Rhodes JL, Tye GW, Fearon JA. Craniosynostosis of the lambdoid
suture. Semin Plast Surg. 2014;28:138–143.
71. Berry-Candelario J, Ridgway EB, Grondin RT, et al. Endoscope-
assisted strip craniectomy and postoperative helmet therapy for
treatment of craniosynostosis. Neurosurg Focus. 2011;31:E5.
72. Fearon JA, Ruotolo RA, Kolar JC. Single sutural craniosynostoses:
surgical outcomes and long-term growth. Plast Reconstr Surg.
2009;123:635–642.
73. Persing JA, Babler WJ, Nagorsky MJ, et al. Skull expansion in
experimental craniosynostosis. Plast Reconstr Surg. 1986;78:594–603.
74. Shen W, Cui J, Chen J, et al. Correction of craniosynostosis using
modified spring-assisted surgery. J Craniofac Surg. 2015;26:522–525.
75. Costa MA, Ackerman LL, Tholpady SS, et al. Spring-assisted
cranial vault expansion in the setting of multisutural
craniosynostosis and anomalous venous drainage: case report. J
Neurosurg Pediatr. 2015;16:1–6.
76. Mackenzie KA, Davis C, Yang A, MacFarlane MR. Evolution of
surgery for sagittal synostosis: the role of new technologies. J
Craniofac Surg. 2009;20:129–133.
77. Windh P, Davis C, Sanger C, et al. Spring-assisted cranioplasty vs
pi-plasty for sagittal synostosis–a long term follow-up study. J
Craniofac Surg. 2008;19:59–64.
78. Guimarães-Ferreira J, Gewalli F, David L, et al. Spring-mediated
cranioplasty compared with the modified pi-plasty for sagittal
synostosis. Scand J Plast Reconstr Surg Hand Surg. 2003;37:208–215.
79. Ririe DG, David LR, Glazier SS, et al. Surgical advancement
influences perioperative care: a comparison of two surgical
techniques for sagittal craniosynostosis repair. Anesth Analg.
2003;97:699–703.
80. Pyle J, Glazier S, Couture D, et al. Spring-assisted surgery-a
surgeon’s manual for the manufacture and utilization of springs in
craniofacial surgery. J Craniofac Surg. 2009;20:1962–1968.
81. McCarthy J, Stelnicki E, Grayson B. Distraction osteogenesis of the
mandible: a ten-year experience. Semin Orthod. 1999;5:3–8.
82. Nowinski D, Di Rocco F, Renier D, et al. Posterior cranial vault
expansion in the treatment of craniosynostosis. Comparison of
current techniques. Childs Nerv Syst. 2012;28:1537–1544.
83. Hopper RA. New trends in cranio-orbital and midface distraction
for craniofacial dysostosis. Curr Opin Otolaryngol Head Neck Surg.
2012;20:298–303.
84. Derderian CA, Bastidas N, Bartlett SP. Posterior cranial vault
expansion using distraction osteogenesis. Childs Nerv Syst.
2012;28:1551–1556.
85. Ong J, Harshbarger R, Kelley P, George T. Posterior cranial vault
distraction osteogenesis: evolution of technique. Semin Plast Surg.
2014;28:163–178.
86. Derderian CA, Wink JD, McGrath JL, et al. Volumetric changes in
cranial vault expansion. Plast Reconstr Surg. 2015;135:1665–1672.
87. Taylor JA, Derderian CA, Bartlett SP, et al. Perioperative morbidity
in posterior cranial vault expansion. Plast Reconstr Surg.
2012;129:674e–680e.
88. Greives MR, Ware BW, Tian AG, et al. Complications in posterior
cranial vault distraction. Ann Plast Surg. 2016;76:211–215.

760.e3
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90. Hirabayashi S, Sugawara Y, Sakurai A. Frontoorbital advancement
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91. Paine KM, Tahiri Y, Paliga JT, Taylor JA. Simultaneous unicoronal
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22 cases of craniosynostosis: a new, easy, safe, and efficient method
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106. Naumann HL, Haberkern CM, Pietila KE, et al. Duration of
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SECTION II • Craniofacial
33 
Syndromic craniosynostosis
Jeffrey A. Fearon
SYNOPSIS
■ Syndromic craniosynostoses are defined by having coexisting
anomalies aside from fused cranial sutures.
■ Treatment paradigms are best designed according more to phenotype
than genotype.
■ The avoidance of neurocognitive delays requires a focus on the
prevention of sleep apnea, chronic elevations in intracranial pressure,
and a reduction in anesthetic lengths and numbers.
■ The management of the syndromic craniosynostoses are best
relegated to dedicated craniofacial teams, comprised of experienced
subspecialists.
Access the Historical Perspective section online at

Introduction
Craniosynostosis is a condition resulting in the anomalous
fusion of one or more cranial sutures. When just one suture is
affected, this may be referred to as “isolated craniosynostosis”.
Syndromic craniosynostosis signifies the presence of addi­
tional anomalies occurring in embryologically distinct areas
outside of the skull. As a general rule, infants presenting with
single sutural synostoses will not have a syndrome, while
those with multiple sutural craniosynostosis are more likely
to have a syndrome. However, some syndromes have been
described in association with only a single sutural synostosis,
and various patterns of multiple sutural fusions (also known
as “complex craniosynostoses”) may occur in the absence of
a recognized syndrome. Most syndromes have been epony­
mously named after the physician(s) describing the condition;
however, many may also be referred to by slightly more
descriptive names such as the acrocephalosyndactylies: type
1 (Apert), type 2 (Crouzon), type 3 (Saethre–Chotzen) and
type 5 (Pfeiffer). The syndromic craniosynostoses are rela­
tively uncommon and of all the anomalies treated by cranio­
facial surgeons, they can present some of the greatest treatment
challenges. The optimal care of patients with these unusual
syndromes is best relegated to experienced craniofacial teams,
comprised of multiple subspecialists. By virtue of their
increased experience level, and the capability to coordinate
care across specialties, such teams can both reduce the total
number of operative procedures that affected children must
endure, as well as maximize outcomes.
Basic science/disease process
As the field of craniofacial genetics has matured, a more
complete picture of the molecular basis for the syndromic
synostoses is emerging. Today, over 150 different craniosyn­
ostosis syndromes have been described.14 The majority of
syndromic craniosynostoses are the result of FGFR-related
mutations, which are primarily autosomal dominant.15 In
addition to the more commonly encountered Apert, Crouzon,
and Pfeiffer syndromes, other FGFR-related craniosynostosis
syndromes include Muenke, Crouzon with acanthosis
nigricans, Jackson–Weiss, and Beare–Stevenson (Table 33.1).
Among the non-FGFR mutations are Boston-type craniosyn­
ostosis (MSX2), the Philadelphia type, and Saethre–Chotzen
(Twist 1). All the FGFR-associated craniosynostoses are gain-
of-function mutations, and while MSXS is also a gain-of-
function mutation, the TWIST mutation represents a loss of
function.16 Notably, the TWIST mutation has been reported to
occur in association with an increased incidence of breast and
renal cancers; however, a subsequently published multicenter
Australian study failed to support these earlier findings.17–19
The majority of infants born with one of the syndromic
craniosynostoses will present with bilateral coronal cranio­
synostosis, either in isolation or associated with other sutural
synostoses. In addition, there may be variable effects on the
development of the midface, as well as the hands and feet.
It has been noted that some genes expressed in craniofacial

761.e1
Historical perspective
Historical perspective
Over the ages, infants born with craniofacial malformations
have evoked both feelings of fear and repulsion. Plato, in his
Republic, suggested the elimination of malformed children,
not only because they were considered a harbinger of misfor­
tune but also to keep the race as strong and perfect as possi­
ble.1 One of the first phenotypic descriptions of an abnormal
skull shape has been attributed to Vesalius, whose observa­
tions on oxycephaly were published in 1543.2 Early treat­
ments for abnormal skull shapes relied on the use of external
molding bandages, and it was not until the nineteenth
century that surgeons first reported surgical interventions as
treatment. Motivated to “unlock the brain” and relieve
“mental imbecility”, Lane was among the first to treat cranio­
synostosis in an infant, with a strip craniectomy (this “relief”
was short-lived, as the child died early postoperatively).3
With the recognition that sutural fusion resulted in an
impairment of normal skull growth it seemed logical that if
the affected suture was removed, normal growth could
resume unabated. In spite of reports of extremely high mor­
tality rates, many surgeons continued to perform linear cra­
niectomies for craniosynostosis throughout the last century.2
However, as experience with these strip craniectomy proce­
dures grew, it became evident that isolated removal of an
affected suture in infancy provided only limited improve­
ment, partly because of the rapid re-growth of bridging bone.
These observations resulted in the development of adjunc­
tive techniques meant to impair re-ossification, such as the
creation of wider osteotomy gaps, chemical cauterization of
fresh osteotomy sites, and wrapping the edges of bone with
various materials.4,5 It was subsequently observed that
despite surrounding the margins of freshly cut bone with
polyethylene film, these bony gaps re-grew fairly quickly.6
Craniofacial surgeons came to appreciate that the removal of
a section of skull (or even the entire skull, as recommended
by some!) was unable to produce a normal-shaped skull, let
alone create a functioning suture, or even an intact skull, and
that more was needed to satisfactorily correct the effects of
craniosynostosis.7,8 These realizations lead surgeons to recog­
nize the necessity of surgically repositioning the affected
areas of the skull in order to accomplish the restoration of
normal calvarial architecture.
Through the misfortunes of war, those caring for the
wounded acquired considerable experience in treating skull
and facial deformities. Building on this knowledge, surgeons
began to address the treatment of the facial anomalies associ­
ated with the syndromic craniosynostoses. The early treatment
of the recessed midface was reserved until the completion of
facial growth and utilized facial osteotomies that were based
on the fracture pattern lines first reported by Rene Le Fort in
the early 1900s.9,10 In 1950, Harrison and Giles described the
use of a Le Fort III-type osteotomy to advance the midface in
a young adult with Crouzon syndrome; however, they were
challenged by an inability to provide fixation sufficient to
stabilize their advancement.11 Subsequent to this published
attempt, Tessier reported his foray into treating rare facial
malformations and “the monstrous deformities” associated
with Crouzon and Apert syndromes.12,13 He improved on
Giles’s Le Fort III procedure by placing the orbital osteotomies
posterior to the lacrimal fossa (instead of anterior) and using
interpositional bone grafts (particularly in the interpterygo­
maxillary region) that were secured with wire fixation. Tessier
also described the use of a bandeau for skull reconstruction,
which was an area that heretofore had not been addressed
by plastic surgeons, as well as subperiosteal orbital oste­
otomies for moving the orbits. Catalyzed by these reports
of paradigm shift procedures, plastic surgeons developed a
renewed interest in treating the craniofacial dysostoses and
other rare birth defects, and craniofacial surgery emerged as
a true subspecialty.

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SECTION II
CHAPTER 33 • Syndromic craniosynostosis
and type III is reserved for the most severely affected children.
Apert syndrome has also been shown present with different
skull configurations: type I describes a split metopic suture
without any significant turricephaly, type II infants have a
closed metopic suture with moderate turricephaly, and type
III is notable for severe turricephaly, similar to a type III
Pfeiffer skull shape.27 In spite of these differences, no specific
genetic mutations have yet been noted to correlate with each
of these described phenotypes.31
Diagnosis/patient presentation
Knowledge of how skull growth is affected by each sutural
fusion (with radial growth inhibition occurring in the region
of the fused suture and compensatory growth occurring in the
remaining open sutures) will enable the astute examiner to
correctly diagnose which of the skull sutures are fused.32
Palpation of open fontanels, and any congenital or acquired
skull defects, can provide insight into potential elevations in
intracranial pressure. For example, if dura is constantly
bulging through the fontanel, if a raised collar of bone is
palpable around the fontanel (“volcano sign”), or if multiple
unexpected skull defects are noted, these may all be indicators
for raised intracranial pressure (Fig. 33.1). It is also important
to frequently follow serial head circumference measurements
early in life to monitor for the potential development of
hydrocephalus, which can be ascertained by progressive
upward deviations in the growth curve. The eyes are assessed
for the degree of proptosis and the ability to achieve adequate
lid coverage, sufficient to prevent conjunctival desiccation.
The globes are monitored for further forward displacement
with the infant crying, such that the upper eyelid might be
potentially trapped behind the globe. When identified, this is
best treated with creation of semi-permanent intramarginal
adhesions. The palate is examined for possible clefting, and
the noise of breathing is assessed with the child recumbent.
Further differentiation between syndromes can often be
determined by an examination of the fingers and toes.
development are also expressed in limb development.20,21
One of the more commonly encountered syndromic cranio­
synostoses is Crouzon syndrome, which is notable for the
presence of phenotypically normal hands and feet. Pfeiffer
syndrome is recognizable by the presence of enlarged thumbs
and halluces, and Apert syndrome may be easily identified
by the associated complex syndactylies of the hands and
feet. As the field of molecular genetics has developed, many
surgeons have hoped that gene testing could provide specific
and accurate diagnoses for each of the phenotypically unique
craniofacial syndromes. Thus far, this has proven to not be
the case. Not only can the same mutation cause different
syndromes, different mutations may be associated with the
same syndrome.22,23 For example, identical mutations have
been noted in individuals with Crouzon syndrome, Pfeiffer
syndrome, and Jackson–Weiss syndrome, suggesting that
unlinked modifier genes, or epigenetic factors, are playing
an important role in determining the final phenotype.24,25
Apert syndrome has been shown to result from at least two
separate amino acid missense substitutions in almost all cases:
Ser252Trp or Pro253Arg. The Ser252Trp mutation has been
reported to occur slightly more commonly and is associated
with an increased incidence of palatal clefting, while the
Pro253Arg mutation is more often associated with a more
severe form of syndactyly.26,27 Through use of the amplifica­
tion refractory mutation system, the paternal origin of these
mutations for Apert, Crouzon, and Pfeiffer syndromes has
been demonstrated, along with a correlation to paternal
age.28–30 Moreover, within syndromes there can be significant
phenotypic variability. For example, Pfeiffer syndrome has
been phenotypically subclassified into three separate types
based on the appearance of the skull: type I is described as the
“classic Pfeiffer” and represents a milder presentation, type II
is notable for a cloverleaf (or Kleeblattschädel) skull deformity,
Table 33.1  FGFR-related craniosynostoses
Syndrome
Percentage
caused by
FGFR1
mutations
Percentage
caused by
FGFR2
mutations
Percentage
caused by
FGFR 3
mutations
Muenke
100%
Crouzon
100%
Crouzon with
acanthosis
nigricans
100%
Jackson–Weiss
100%
Apert
100%
Pfeiffer type I
5%
95%
Pfeiffer type II
100%
Pfeiffer type III
100%
Beare–Stevenson
<100%
FGFR2 isolated
coronal
synostosis
100%
(Adapted from Robin NH, Falk MJ, Haldeman-Englert CR. FGFR-related
craniosynostosis syndromes. Gene Reviews. )
Fig. 33.1  A raised collar of bone is palpable around the fontanel (“volcano sign”),
one of many indicators for raised intracranial pressure.

763
Diagnosis/patient presentation
therefore, swallowing studies may be indicated. When
obstructive sleep apnea is identified, more conservative treat­
ments include use of continuous positive airway pressure
(CPAP) masks and tonsilloadenoidectomies (although the
efficacy of this procedure is currently unclear). Some surgeons
have reported performing frontofacial advancements in
infancy; however, there is currently no evidence to support
the efficacy of these early interventions. Therefore, such treat­
ments must be considered as falling outside of the current
mainstream of care.35,36 On the other hand, temporary trache­
otomies have been attributed to lowering mortality rates for
the more severe patterns of syndromic craniosynostosis and
should be considered in all infants and younger children who
have failed the more conservative therapies.34 The incidence
for airway compromise can increase with age as the midfacial
hypoplasia becomes more progressive.37
In addition to airway management, the second critical area
of focus for any child with syndromic craniosynostosis is the
avoidance of raised intracranial pressure, which can signifi­
cantly increase with age. Commonly, physicians begin the
work-up of any infant with an abnormal skull shape by order­
ing a CT scan. While such studies can provide a clear assess­
ment of patterns of sutural fusion, it has been shown that for
the single sutural synostoses, an accurate diagnosis can be
made solely on the basis of a careful physical examination.38
More importantly, it is not possible to diagnose elevations in
intracranial pressure by these scans. Some believe that chronic
elevations in intracranial pressure may result in observable
changes in the skull radiographs, such as imprinting (“copper-
beaten”, and/or thinning of the bone); however, there are no
supportive studies to confirm this relationship, nor does this
finding appear to correlate with intelligence.39 It is common
to see enlarged ventricles on scans of children with syndromic
craniosynostosis, but this finding alone does not indicate the
need for ventricular peritoneal shunting. The determination
of whether or not a child with syndromic craniosynostosis
might require shunting is often best determined by serial
head circumference measurements. Unfortunately, the clinical
determination of elevated intracranial pressure is an extremely
challenging endeavor. There have been no published studies
evaluating either the specificity or sensitivity of any of the
often-cited clinical signs for raised intracranial pressure.
Currently, it is unknown exactly how high or for how long
intracranial pressure needs to be elevated before there are
Table 33.2 lists identifying characteristics for the more com­
monly presenting syndromes. The most important aspect of
the initial examination is the assessment for potentially acute
impediments to life, such as an airway obstruction or feeding
impairment (inadequate intake, reflux, aspiration, etc.). Con­
cerns for intracranial pressure, while important, usually take
a secondary role in this initial evaluation. This is because early
in life the remaining open sutures are likely effective in com­
pensating for those that are fused.
With regard to initial testing, if there are any suspicions for
airway compromise (history for snoring, increased noise of
breathing noted during the examination, significant midfacial
hypoplasia), the first test performed should be polysomnog­
raphy. Children with syndromic craniosynostosis can develop
either obstructive or central sleep apnea. Most commonly,
affected infants will present with obstructive sleep apnea. The
cause for this obstruction may be multifactorial but is most
often directly related to a three-dimensional midfacial hypo­
plasia. In addition to maxillary recession there is elevation of
the floor of the nose (from a failure of palatal descent), along
with palatal narrowing, which correspondingly reduces the
size of the nasal passages. The resultant airway compression
is different from a true choanal atresia, which is defined by a
congenital persistence of tissues separating the nose from the
mouth. This reduction in nasal airway aperture is best left
untreated because of the dismal success rates that have been
observed following any early surgical intervention.33 Other
causes for airway obstruction include tracheomalacia, tracheal
stenosis (especially with type II Pfeiffer syndrome), reactive
airway disease, and gastroesophageal reflux (anti-reflux
medication should be considered for all syndromic infants).34
It is more unusual to see central sleep apnea in infants with
syndromic craniosynostosis. This is because this symptom is
usually the result of an acquired Chiari I deformation that
causes brain stem compression. With growth, there may be
progressive tonsillar herniation, leading to worsening central
sleep apnea. Aside from Chiari deformations, central apnea
may less commonly occur from general elevations in intra­
cranial pressure. More often, central apneas are seen to arise
in children with severe obstructive apnea. These are likely
spurious central apneas, which typically disappear when the
obstruction is treated. Feeding issues are commonly seen in
conjunction with airway obstruction, and when associated
with neuromuscular immaturity, silent aspiration may result;
Table 33.2  Clinical findings in selected FGFR-related syndromic craniosynostoses
Syndrome
Skull shape
Midface
Hands and feet
Apert
Moderate to severe brachycephaly with
occasional severe turribrachycephaly
Moderate hypoplasia
Pan-syndactylies of hands and feet (thumbs
can be free, and partial syndactylies of small
fingers and toes may occur)
Crouzon
Brachycephaly
Mild to moderate hypoplasia
Generally unaffected
Muenke
Unilateral or bilateral brachycephaly
Mild to none
Variable carpal and tarsal fusions
Pfeiffer type I
Brachycephaly
Moderate
Broad thumbs and halluces. Variable limited
syndactyly
Pfeiffer type II
Cloverleaf skull deformity with pan-
synostoses
Moderate
Broad thumbs and halluces. Variable limited
syndactyly
Pfeiffer type III
Pan-synostoses with marked
turricephaly
Moderate to severe
Broad thumbs and halluces. Variable limited
syndactyly

764
SECTION II
CHAPTER 33 • Syndromic craniosynostosis
than surgical management. As the affected infant moves
farther along the severity continuum, the likelihood for
airway compromise may increase, as does the potential for
feeding issues.
Patient selection
The determination of which operation should be done, and
when it is best to perform this procedure, cannot be decided
on a syndrome-by-syndrome basis; instead, these decisions
need to be based on phenotypic presentation. It is useful to
recognize that the syndromic synostoses actually represent a
continuum of birth defects. At one end of this syndromic cra­
niosynostosis spectrum would be the isolated bilateral coronal
craniosynostoses (without any associated midfacial hypopla­
sia, and only minimally impaired cranial growth), and at the
other end would be the severely constricted Kleeblattschädel
skull deformities and complete pan-synostoses with extremely
deficient midfacial growth, and associated severe airway
anomalies (Fig. 33.2). Appreciating where each child falls on
this continuum allows surgeons to apply treatment algorithms
specific to the encountered problems.
The timing for the initial surgical intervention for any of
the craniosynostoses has not been well studied. With respect
to addressing the compromised skull growth, the two primary
goals of treatment are to improve appearance and to prevent
sustained elevations in intracranial pressure (sufficient to
impact cognition). Implicit among these goals is the ability to
accomplish them as safely, and with as few procedures, as
possible. It is tempting to believe that early surgery needs to
be performed to release the skull and reduce intracranial
pressure. However, it is more likely that early surgery impairs
growth than improves growth. Studies examining long-term
calvarial growth following single sutural corrections have
shown that growth is not normal postoperatively.57–61 Consid­
ering the rapid development of the brain in infancy, delaying
surgical intervention offers the potential to achieve better
longer-term results. Early surgical intervention must contend
with the reduced mechanical rigidity of the thin infant skull,
which can impair the ability to achieve any significant enlarge­
ment of the calvaria and limit the ability to accomplish any
notable improvements in appearance. Moreover, earlier surgi­
cal interventions have the disadvantage of the rapidly growing
brain quickly occupying any obtainable increase in intra­
cranial volume. It is important to consider the question: if
surgery is performed in the first few months of life, how long
can the result be expected to last? Conversely, one must also
consider if inappropriate delays in surgical intervention might
potentially result in preventable visual or developmental
losses.43,45 Studies measuring intracranial pressure in children
with craniosynostosis suggest that elevated pressure is more
likely to be encountered when multiple sutures are fused, that
elevated pressures may inversely correlate with mental func­
tion, and that surgery can successfully reduce intracranial
pressure.40–42 While is it certainly more important to focus on
the prevention of developmental delays than it is to just treat
an intracranial pressure number, developmental levels are
much harder to measure. Studies examining the relationship
between development and surgical timing reveal conflicting
conclusions. Some suggest that earlier surgery (under 1 year
of age) is associated with higher IQ or other developmental
irreversible adverse effects on cognitive function. Neverthe­
less, some attempts to determine the presence of potentially
elevated intracranial pressure must be made. Studies using
direct measurement techniques suggest that when more than
one suture is fused (even when there is a normal skull volume),
intracranial pressure is more likely to be elevated.40–42 Given
the invasive nature of direct intracranial pressure testing, it is
not reasonable to perform serial testing in every child with
syndromic craniosynostosis. Instead, secondary assessments
for raised pressure are used, such as the physical assessment
of fontanels or other skull defects (to assess dural tension),
serial head circumference measurements (to look for changes
along the growth curves), fundoscopic examinations (to assess
for papilledema), reversed visual evoked potentials, optical
coherence tomography, and MRI scanning (to monitor for
decreasing ventricular size, enlargement of the optic nerves,
or progressive tonsillar herniation).42–48 While a high specific­
ity for the association between papilledema and raised intra­
cranial pressure has been reported, the sensitivity for this test
has been shown to be quite low, especially in children under
8 years of age.47,49 Although it might seem intuitive that pro­
gressive skull malformations might correlate with increased
intracranial pressure and developmental issues, this relation­
ship has thus far not been supported by retrospective single
sutural synostosis studies.50,51 In addition to the need for
evaluating a child for potential airway compromise and raised
intracranial pressure, there are additional anomalies that must
be considered. The association between cerebellar tonsillar
herniation and syndromic craniosynostosis was first described
over 30 years ago; since that time, studies have shown
that these Chiari malformations are an acquired defect and
are likely exacerbated by ventriculoperitoneal shunting.52–54
Chiari malformations have been observed to occur fairly com­
monly in Apert syndrome, often in Crouzon syndrome, and
almost always in the more severe presentations for Pfeiffer
syndrome.27,34,44,55 For this reason, the magnetic resonance
imaging (MRI) scans are probably the single best imaging
modality for infants with syndromic synostosis, because of its
superior imaging of the hindbrain. This screening test should
be considered in all children with syndromic craniosynostosis
because, when present, Chiari malformations may lead to
disordered swallowing, syringomyelia, symptomatic, or even
potentially fatal central sleep apnea. Sequential scans can
assist with the diagnosis of hydrocephalus, which sometimes
does not become evident until after an initial skull expansion
procedure. Additional testing may include a cardiac echocar­
diogram when murmurs are detected, because of the reported
elevated incidence of these anomalies among the syndromic
craniosynostoses, particularly atrial and ventricular septal
defects.56 Finally, consideration needs to be given to an upper
gastrointestinal series with a small bowel follow-through
evaluation for a potential malrotation, which appears to be
more common in Pfeiffer syndrome, but may also occur in
Apert syndrome.34
In formulating a lifelong treatment strategy for any child
with syndromic craniosynostosis, it is critically important
to remain focused on maximizing development through
the prevention of avoidable neurocognitive loss by (1)
avoiding prolonged periods of hypoxia and (2) avoid­
ing prolonged periods of raised intracranial pressure. The
initial management of any child born with one of the syn­
dromic craniosynostoses typically involves more medical

765
Treatment/surgical technique
Treatment/surgical technique
Of all the congenital craniofacial anomalies, the syndromic
craniosynostoses can present some of the greatest treatment
challenges. The aforementioned goals of treatment (normal­
ization of function and appearance) need to be accomplished
as safely and with as few operations as possible. The manage­
ment of the syndromic craniosynostoses requires a team of
dedicated specialists and is ideally reserved to those centers
that have both a focused interest in these complex problems
and sufficient expertise to provide safe and efficient care.
Underscoring the challenges of treating the more severe
syndromic craniosynostoses are the significant mortality
rates that have been described within this subpopulation
(reportedly, as high as 66 to 85%).68,69 The timing for skull
surgery, and the selection of the ideal operative procedure, are
best based on the phenotypic severity. For those children on
the milder end of the syndromic craniosynostosis spectrum
(mild brachycephaly or a decompressed skull with a split
metopic or sagittal suture), the author will delay surgery
until the open bony defects have closed or the dura begins
to become tense. As the degree of skull deformity progresses
along this severity continuum, progressive turricephaly will
be noted. If allowed to progress beyond a moderate stage,
the increased skull height can be exceedingly difficult to later
correct; therefore, significant turricephaly can be considered
a relative indication for earlier surgical intervention. In the
author’s practice, the first surgical procedure to address
impaired skull growth for any child falling along the mild
to moderate end of the syndromic craniosynostosis spectrum
typically involves enlargement of the anterior fossa. An
increase in intracranial volume is accomplished by bringing
the supraorbital bandeau as far forward as possible, while
simultaneously reducing the associated turricephaly. Surgery
performed in children under 9 months of age, who present
with more severe growth restrictions, is made more challeng­
ing because of the inherent weakness of the thinner skull
bone. Further complicating the need to achieve a sustainable
correction in younger infants are the observations that any
degree of accomplished enlargement is rapidly filled by the
expanding brain and the early recurrence of brachycephaly.
For these reasons, and because of the potential to achieve
a greater degree of expansion when moving larger surface
areas of skull bone, some surgeons have advocated for initial
posterior decompressions, instead of anterior advancements,
and more recently performing these advancements utilizing
distraction techniques.70–72 Although skull distraction pro­
cedures have the potential to provide a greater degree of
expansion than with remodeling, the requirement for two
operative procedures (one to place the device and the other
to remove it) and the likelihood for higher complication rates
(from mechanical problems) need to be taken into consider­
ation. In addition, because of the relative softness of bone
in infancy, the distraction devices may produce undesirable
skull deformations adjacent to the device–bone interfaces.
One comparative study has shown that distraction did not
appear to provide any advantages with respect to either
accomplished skull enlargement or the ability to eliminate the
need for later subsequent enlargement procedures, so further
comparative studies will be needed to better define the roll
for distraction.73
scores.62–64 However, other studies suggest no such correlation
between timing and development.65–67 Further confusing this
issue is that all these contradictory studies are retrospective
and likely impacted by unintended biases. Given the absence
of well-designed studies, surgeons must currently use their
best judgment in determining how long it is safe to delay
surgical enlargement of the skull. The number of fused
sutures, the presence of widely patent decompressing sutures,
and the degree of the presenting skull deformity are all factors
that may influence the timing for skull decompressions. When
concerns for intracranial pressure elevations are low, it is most
likely that the older the child is at the time of surgery, the
better the long-term morphologic result.
A
Fig. 33.2  The syndromic craniosynostosis spectrum can vary from isolated
bicoronal synostosis as seen in Muenke craniosynostosis (A) to the pan-synostoses
that may be seen in association with Pfeiffer syndrome (B).
B

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SECTION II
CHAPTER 33 • Syndromic craniosynostosis
are numerous potential variations on bandeau designs that
can be employed to three-dimensionally overcorrect the
observed displacement.80 For example, for simple isolated
bilateral coronal craniosynostosis, a stair-step osteotomy can
be used to advance and stabilize the bandeau (Fig. 33.5).
However, when there has been compensatory overgrowth of
the frontal/temporal region, custom osteotomies can be used
to narrow the bandeau while simultaneously advancing and
lowering the supraorbits (Fig. 33.6). The frontal bone can also
be removed without designing a true bandeau (and also
without cutting into the frontal sinuses, avoiding contamina­
tion of the surgical field), and then repositioned, or replaced
with another bone flap, in both a more forward and inferior
position via temporal insets (Fig. 33.7).
When faced with a more deformed skull shape resulting
from pan-craniosynostosis, consideration should be given to
performing a mid vault decompression at an earlier age
(preferably after 6 months of age). This approach spares the
aesthetically important forehead for later subsequent advance­
ment, at a time when the bone is thicker and more amenable
to creation of a stable construct. The low posterior skull is also
left intact, in order to prevent scarring, should a later Chiari
decompression be required. The mid vault decompression
procedure requires removal and replacement of the parietal
bones, with a special focus on those areas of abnormal com­
pression (Fig. 33.8). This procedure can be demanding as keels
of bone are often encountered that may extend deeply into the
sulci of the brain (Fig. 33.9). It also is important to recognize
that as a result of the associated skull base compression,
While there are a number of important factors that need to
be assessed in determining if the initial skull expansion should
occur anteriorly or posteriorly, one important consideration is
the presence or absence of an acquired Chiari deformation.
This condition has been reported to affect almost 30% of
children with Apert syndrome, 70% of children with Crouzon
syndrome, and up to 100% of the children with the more
severe Pfeiffer presentations.27,34,44,55 When identified, a low
posterior fossa enlargement with decompression of the
foramen magnum might be indicated.74 It would seem that
when these decompressions are performed under a year of
age, it might be more likely that these releases will offer only
transient benefits because of the potential for the subsequent
bony regrowth. Therefore, some believe that posterior skull
enlargements should be held in abeyance when possible,
pending the development of a symptomatic Chiari deforma­
tion. Another consideration in determining whether or not to
perform an anterior or posterior decompression is a child’s
long-term aesthetic appearance. It is well recognized that
following any remodeling procedure occurring during
growth, removed bone flaps can develop subsequent irregu­
larities over time. One long-term strategy preferred by the
author is to preserve a section of posterior parietal bone so
that this unaltered smoother section of bone can be exchanged
for the irregular frontal bone at skeletal maturity, bringing the
benefit of a lifelong aesthetically pleasing forehead. If the
posterior skull is surgically altered during infancy, especially
when distraction is used, this strategy for aesthetic reconstruc­
tion is lost. For this reason, the author prefers to initially treat
most children with syndromic craniosynostosis with an ante­
rior procedure, ideally delayed until sometime after a year of
age, in order to take advantage of the structurally stiffer bone
that will allow for a larger and more stable advancement.
Although some surgeons have described the use of molding
helmets in treating the syndromic craniosynostoses, the
author believes that there is no role for the use of these
molding helmets because of their mechanism of action (con­
stricting growth in some areas to direct brain growth to alter
the skull shape in other areas) seems counterintuitive in treat­
ing a condition that may be associated with raised intracranial
pressure.
Multiple techniques have been described to enlarge the
frontal fossa in children with syndromic craniosynostosis;
most utilize some form of a supraorbital bandeau of varying
lengths. Once cut, the bandeau can be advanced into the
desired location, and the frontal bone is reattached. The exact
positioning of the bandeau is critical, for as the bandeau goes,
so goes the rest of the reconstruction. Some surgeons prefer
to use a horizontally short bandeau, which extends laterally
only as far as the lateral orbital rim (Fig. 33.3).7,62,75 This par­
ticular bandeau design lacks any inherent stability; therefore,
very rigid osseous fixation is required in order to stabilize the
advancement. Use of a longer horizontal bandeau design,
with a tenon-type tongue-in-groove joint that extends poste­
riorly across the temporal bone, can result in greater inherent
stability (Fig. 33.4).76–78 However, a careful analysis of the
deformity resulting from coronal synostosis will reveal that in
addition to supraorbital recession, there is also supraorbital
elevation. Therefore, the ideal vector for bandeau advance­
ment may not be the simple forward horizontal movement
that is often suggested.79 Instead, the supraorbits need to be
repositioned in both a forward and an inferior direction. There
Fig. 33.3  Enlargement of the anterior fossa may be performed utilizing a
horizontally short bandeau. This technique requires use of a plating system in order
to provide lateral stability. However, significant advancements with this osteotomy
design may result in an increase in temporal hollowing.

767
Treatment/surgical technique
Finally, for all anterior cranial vault advancements performed
in early childhood, especially for children with significant
preoperative orbital proptosis, consideration should be made
for the placement of absorbable suture temporary tarsorrha­
phies to prevent devastating postoperative chemosis that may
lead to corneal injury and blindness.34
The second important area of focus in treating children
with syndromic craniosynostosis is the midface. Significant
airway compromise can result from the associated midfacial
hypoplasia; therefore, affected patients need to be followed
both clinically and with serial polysomnography. The deter­
mination for the ideal time to surgically advance the midface
is predicated on the development of one of two indicators.
The first is obstructive sleep apnea that is not amenable to any
less invasive correction (i.e. medication, adenotonsillectomies,
and use of a continuous positive airway pressure masks at
night). Although there are published reports of midfacial
advancement in infancy, these early interventions at best can
be expected to provide only transient benefits given the
subsequent impairments in growth, and therefore cannot
be recommended by the author.35,36,82 Multiple studies have
venous hypertension may ensue producing enlarged trans­
osseous veins, typically most prominent in the low central
occipital region (Fig. 33.10). These dilated veins should ideally
be preserved, as ligation has been cited as the cause of a
subsequent postoperative mortality.81 One caveat to the
admonition to avoid early posterior decompressions is for
infants noted to have severe Chiari deformations in the pres­
ence of ventriculoperitoneal shunts. This particular combina­
tion may be one indication for early decompression of the
foramen magnum. This is because shunt failures in children
with severe Chiari deformations can be devastating, causing
brainstem strokes, even death. The performance of any pro­
cedure at this early stage of growth means that a subsequent
cranial vault enlargement will almost certainly be needed
before the child has reached 18 months of age. Frequent clini­
cal evaluations for potential elevations in intracranial pres­
sure, as well as monitoring for the development of an acquired
Chiari malformation, need to be performed on a routine basis.
Fig. 33.4  Use of a longer bandeau design, with a tenon-type tongue-in-groove
joint, provides inherent stability and may offer a smoother transition into the
temporal region. A potential problem with this particular osteotomy design is that it
does not inferiorly reposition the supraorbit, which is always necessary with coronal
synostosis.
A
Fig. 33.5  A stair-step osteotomy can be used to advance and stabilize the
bandeau. This design permits both a forward advancement and a simultaneous
inferior repositioning of the bandeau.
B

768
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CHAPTER 33 • Syndromic craniosynostosis
Fig. 33.7  As an alternative to using a standard bandeau, a low frontal osteotomy
can be performed to remove almost the entire frontal bone. This bone segment is
then repositioned (or rotated 180°) and inset in a more anterior and inferior
position. This particular design permits preservation of frontal sinus (avoiding
potential contamination) and is particularly useful when the lower bandeau is of
poor quality.
A
B
Fig. 33.6  When there is an anomalous increase in frontotemporal width, skull base
osteotomies can be performed, which are designed to narrow the bandeau while
simultaneously advancing and lowering the supraorbits.
A
B
Medial shift
Periorbita
Excess bone trimmed
shown that midfacial growth is arrested following frontofacial
procedures, and it has also been reported that obstructive
apnea may recur following midfacial advancements.37,83–86
Therefore, for younger children presenting with obstructive
sleep apnea refractory to more conservative measures, the
author favors placement of a temporary tracheostomy until
age 6 or later, at which time a midfacial advancement can be
safely and effectively performed. The second indication for a
midfacial advancement is based on the child’s psychosocial
development and issues with self-perception. Currently, the
author prefers to delay midfacial advancement whenever
possible to sometime around age 8 or 9. At this time, it has
been shown to correlate with the ability to avoid the need for
a subsequent secondary advancement.37
While numerous different osteotomy patterns have been
described for advancing the hypoplastic midface, it is possible
to subdivide all of these into one of two groups: those requir­
ing intracranial exposure and those that do not. Among those
procedures involving a breach of the intracranial space, the
most commonly used frontofacial advancement is the “mono­
bloc”, which was first described by Ortiz-Monasterio et al.
(Fig. 33.11).87 This procedure has the advantage of simultane­
ously advancing both the midface, and the anterior cranial
fossa, theoretically saving the child an operative procedure.
Another variation of the frontofacial advancement is the facial
bipartition (Fig. 33.12).88–91 Although initially described for the
treatment of hypertelorism, the bipartition has been utilized
for advancing the midface while simultaneously reducing
intraorbital distance and sagittally bending the midface. The
second type of midfacial advancement is the subcranial
approach, which utilizes the Le Fort III osteotomy (Fig. 33.13).
In skeletally mature patients, the Le Fort III can be combined
with a Le Fort I level osteotomy, which permits simultaneous
forward advancement of the midface, with vertical lengthen­
ing of the lower maxilla, and the normalization of occlusal
relationships (Fig. 33.14). While there is no unanimity among
surgeons as to which is the best technique for advancement,
currently most surgeons appear to prefer the subcranial Le
Fort III approach for a number of reasons: the indications for
enlarging the anterior cranial fossa and advancing the midface
rarely correspond temporally, the midface usually requires
a differential advancement (typically, 2 to 3 times further
forward than needed for the forehead), and because the
reported complication rates for frontofacial advancements are
higher than subcranial advances, likely related to the created
connection between the sinuses and the intracranial space.92
One of the earliest challenges facing surgeons perform­
ing midfacial advancements in children was the inability to
obtain, and then maintain, a reasonable advancement. This
difficulty led a number of surgeons to explore the use of
distraction osteogenesis. Currently, two general types of

769
Treatment/surgical technique
distraction techniques are being utilized: laterally based semi-
buried distraction devices and centrally based external halo
devices (Figs. 33.15 & 33.16).35,93–98 Of these two techniques the
centrally based halo distraction offers the advantages of pro­
viding a better correction of the central dish-face deformity,
while permitting manipulation of the distraction vector after
the device has been placed.96 The halo distraction Le Fort III
has also been shown to have lower published complication
rates (including being used to salvage semi-buried device
failures).96,99 The ideal distraction vector is best determined
by considering final desired position of the malar eminences,
as well as the need for dorsal nasal lengthening. When the
midface is vertically shortened in addition to being recessed,
the distraction vector should not be designed to normalize
occlusal relationships. The correction of the vertical maxil­
lary hypoplasia needs to be delayed until the eruption of
secondary dentition, at which time either an isolated Le Fort
I or a Le Fort III with a Le Fort I can be performed in order to
accomplish the required vertical facial lengthening.96
Fig. 33.8  A mid vault cranioplasty can effectively decompress infants affected with
pan-synostosis. This procedure entails careful removal and replacement of the
abnormally indented parietal bones.
Fig. 33.9  Posterior keels of bone, which extend deep into dural invaginations, can
be expected in patients with pan-synostoses, particularly Pfeiffer syndrome.
Fig. 33.10  Low, posteriorly draining enlarged transcranial veins are commonly
seen with the more severe phenotypic presentations of Apert and Pfeiffer syndrome.
Ideally, these vessels should be preserved in order to avoid potentially life-
threatening brain edema.

770
SECTION II
CHAPTER 33 • Syndromic craniosynostosis
Postoperative care
Both cranial vault remodeling and midfacial advancement
procedures in children with syndromic craniosynostosis can
be accompanied by moderate to massive amounts of intra­
operative blood loss, which may be further challenged by
impaired airways.100–102 As a result, the postoperative care of
patients with these conditions requires comprehensive pedi­
atric anesthetic and intensive care management. The ability
A
Fig. 33.11  The monobloc frontofacial advancement simultaneously enlarges the
anterior cranial fossa and advances the midface. However, this procedure does
result in a connection between the sinuses and the intracranial cavity, necessitating
placement of some biologic barrier (i.e., pericranial flap) to separate these two
spaces, or use of distraction techniques.
B
Fig. 33.12  The facial bipartition splits the midface through a combined intracranial
and extracranial exposure. This permits simultaneous midfacial advancement,
reduction in the intraorbital distance, and sagittal bending of the face. This
procedure also results in a connection between the sinuses and the intracranial
cavity, necessitating placement of some biologic barrier (i.e., pericranial flap) to
isolate these two spaces.
to minimize blood loss, and resultant volume shifts, can
substantially contribute to a smoother postoperative recovery.
With increased surgical experience, operative times can be
reduced along with complications. Moreover, techniques such
as preoperative erythropoietin administration, intraoperative
blood recycling, tranexamic acid infusions, the judicious use
of bone wax, and meticulous electrocautery may all help to
minimize the need for perioperative blood transfusions.103–105
Experienced surgeons will pace the operative procedure
in such a way that permits anesthesiologists to ensure the
maintenance of adequate blood volumes. Postoperatively,
“third space” volume shifts occur secondary to changes in
capillary permeability leading to the accumulation of fluid
in the enlarged intracranial epidural “dead space” and the
subgaleal space, as well as the rest of the body. These volume
shifts may be exacerbated by the use of postoperative subga­
leal drains (which the author prefers not to use). Hemoglobin
levels will generally fall over the first few postoperative days,
prior to reaching equilibrium a number of days later. As the
estimated blood loss approaches a majority of the patient’s

771
Outcomes, prognosis, complications
calculated total blood volume, it is important to monitor
for potential dilutional coagulopathies. Disturbances in
acid–base balance can also be expected from intraoperative
hypoperfusion-associated anaerobic metabolism (resulting
in lactic acid production), which can be exacerbated by
hypoventilation immediately following extubation (especially
with subsequent narcotic administration). If this acidosis is
treated with sodium bicarbonate, a secondary hypokalemia
(from the intracellular transport of potassium) may result.106
Some argue that it is better to let this early acidosis self-correct
without intervention, as perioperative hypoventilation abates
and normal ventilation ensues, permitting the more rapid
loss of carbon dioxide. It is also important to closely follow
the patient’s overall mental status, in order to monitor for
the potential development of an intracranial hematoma or
for the syndrome of inappropriate antidiuretic hormone
(which, when identified, is best initially treated with a restric­
tion in free water intake).107,108 For those children undergoing
midfacial advancements, airway monitoring is critically impor­
tant. Protocols for managing airway compromise need to be
established and available for ready implementation, when
indicated.
Outcomes, prognosis, complications
Measuring treatment outcomes in syndromic craniosynos­
tosis is a challenging endeavor, considering that the goals
of surgery (the prevention of developmental delays and the
normalization of appearance) are outcomes that are difficult
to quantify. A number of centers have examined the need
for secondary procedures following an initial craniosyn­
ostosis correction, and reoperative rates between 2–13%
have been reported.58,77,109,110 One study, specifically examining
reoperative rates in the syndromic synostoses, has cited a
reoperative rate of 37%, with an average 6-year follow-up.111
Currently, there are no published outcome studies examining
Fig. 33.13  The traditional Le Fort III osteotomy is a subcranial procedure that
advances the midface as a single segment. Lateral orbital Z-plasties help to stabilize
the advancement.
Fig. 33.14  The Le Fort III with a Le Fort I is a two-piece mid
facial advancement that permits vertical facial lengthening and
idealization of the dental occlusion, while independently
repositioning the malar eminences.

772
SECTION II
CHAPTER 33 • Syndromic craniosynostosis
higher IQ scores while another larger study found no such
correlation.27,112
Outcomes have been evaluated following Le Fort III halo
distraction, and these studies have documented postoperative
skeletal stability without relapse; although following distrac­
tion, no further forward growth of the maxilla has been
noted.37,83,85 While some studies have measured improvements
in airway diameter following Le Fort III distraction, only one
has assessed changes in postoperative ventilation (measured
by pre- and postoperative polysomnography), and this study
confirmed improvements in airway gas exchange.83,113,114
While few studies have tried to assess treatment outcomes,
complication rates have been more extensively examined.
Infection rates following cranial vault remodeling procedures
have been reported between 2.5% and 6.5%, with secondary
procedures and longer operative times cited as potential
risk factors.115–117 A number of retrospective studies have
examined mortality rates following intracranial procedures.
These reports suggest an experience-related decline in mortal­
ity rates following intracranial expansions, with incidences
falling from 2.2% to currently around 0.1%.118–123
Secondary procedures
Aside from the two major procedures typically required for
treatment of the syndromic craniosynostoses (cranial vault
remodeling and midfacial advancement), a number of adjunc­
tive procedures may be necessary. While the use of intracranial
hypertelorism corrections in patients with syndromic cranio­
synostosis has been described, the author has found these
types of corrections generally unnecessary.124,125 Most children
with syndromic craniosynostosis will develop only moderate
increases in intraorbital distance, falling short of satisfying the
usual requirements for directed orbital translation.126 When a
vector for midfacial advancement is selected that appropri­
ately lengthens and raises the nasal dorsum, these changes
significantly decrease the perception of telorbitism, eliminat­
ing the need to consider additional orbital movements.
reoperative rates at skeletal maturity, and general experience
suggests that most children require multiple procedures. A
number of factors might be expected to influence the need
for a secondary (or tertiary) cranial vault remodeling: the age
of the initial operation (with earlier interventions increasing
this risk), the degree of growth inhibition (partially syndrome
related), the success of the procedure, and the criteria used
to determine the need for a secondary procedure. There are
also no long-term outcome assessments measuring cognitive
function. However, with respect to Apert syndrome, one
study has suggested a correlation between early surgery and
Fig. 33.15  The halo distraction Le Fort III utilizes low
lateral orbital straight-line osteotomies and offers the
potential for significantly greater maxillary advancements.
This technique permits vector changes postoperatively,
during the advancement phase.
Fig. 33.16  Semi-buried lateral facial distraction devices can be used to advance
either a subcranial Le Fort III osteotomy or a monobloc (pictured). These devices
do not permit vector changes during distraction and may exacerbate a central
“dish-face” deformity.

773
Secondary procedures
as to vertically lengthen the midface. Following this orthog­
nathic procedure, subsequent malar augmentation can be
achieved with the placement of allogenic implants, mitigating
the need for a repeat Le Fort III.
Finally, most children with syndromic craniosynostosis will
benefit from a reconstructive rhinoplasty at skeletal maturity
in order to smooth the nasal dorsum and to correct the “beak
deformity” that results from a congenital displacement of
the lower lateral cartilages. In addition to rotating the alar
cartilages into a more normal relationship, cephalic rotation
of the tip and dorsal augmentation may benefit nasal airflow.
All children affected with Apert syndrome, and rarely
some with Pfeiffer syndrome, require treatment for their
associated syndactylies, and numerous techniques for digital
separation have been reported.127,128 The author prefers a two-
staged approach to separate all ten fingers and toes; however,
this comprehensive treatment paradigm does require a dedi­
cated team approach.129 As the skeletal growth approaches
completion, digital osteotomies may be required to correct
developing clinodactyly and improve function.
With the completion of facial growth, an isolated Le Fort I
may be necessary to maximize occlusal relationships, as well
2. Goodrich JT, Tutino M. An annotated history of craniofacial
surgery and intentional cranial deformation. Neurosurg Clin N Am.
2001;12:45–68, viii.
7. Marchac D. Radical forehead remodeling for craniostenosis. Plast
Reconstr Surg. 1978;61:823–835. This classic article marks the
progression from treating craniosynostosis with strip craniectomies to a
true remodeling procedure. It was also one of the earliest to depict a
frontal bandeau.
11. Gillies H, Harrison SH. Operative correction by osteotomy of
recessed malar maxillary compound in a case of oxycephaly. Br J
Plast Surg. 1950;3:123–127. This is the first description of a Le Fort
III-type osteotomy for advancing the midface. Although his osteotomy
lines did not actually follow the “true” Le Fort III pattern, this report is
the first to attempt to advance the “whole face and palate”.
13. Tessier P. The definitive plastic surgical treatment of the severe
facial deformities of craniofacial dysostosis. Crouzon’s and Apert’s
diseases. Plast Reconstr Surg. 1971;48:419–442. It is likely that patients
presenting with Apert and Crouzon syndrome were the real catalyst that
spurred Tessier to develop techniques upon which the foundations of
craniofacial surgery were built. This article describes some of Tessier’s
early forays into treating these rare anomalies.
30. Moloney DM, Slaney SF, Oldridge M, et al. Exclusive paternal
origin of new mutations in Apert syndrome. Nat Genet.
1996;13:48–53. This article is one of the first to describe the
comprehensive care of patients with Pfeiffer syndrome and details a more
updated approach to treating the syndromic craniosynostosis.
34. Fearon JA, Rhodes J. Pfeiffer syndrome: a treatment evaluation.
Plast Reconstr Surg. 2009;123:1560–1569.
66. Mathijssen I, Arnaud E, Lajeunie E, et al. Postoperative cognitive
outcome for synostotic frontal plagiocephaly. J Neurosurg.
2006;105:16–20. This paper is the earliest description of a combined
“orbitofacial advancement”, which was later to become known as the
monobloc advancement.
79. Jackson IA, Munro IR, Salyer KE, Whitaker LA. Atlas of
Craniomaxillofacial Surgery. St. Louis: C.V. Mosby Company;
1982.
80. Fearon JA. Beyond the bandeau: 4 variations on fronto-orbital
advancements. J Craniofac Surg. 2008;19:1180–1182.
93. Bradley JP, Gabbay JS, Taub PJ, et al. Monobloc advancement by
distraction osteogenesis decreases morbidity and relapse. Plast
Reconstr Surg. 2006;118:1585–1597.
105. Dadure C, Sauter M, Bringuier S, et al. Intraoperative tranexamic
acid reduces blood transfusion in children undergoing
craniosynostosis surgery: a randomized double-blind study.
Anesthesiology. 2011;114:856–861.
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65. Starr JR, Kapp-Simon KA, Cloonan YK, et al. Presurgical and
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66. Mathijssen I, Arnaud E, Lajeunie E, et al. Postoperative cognitive
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67. Da Costa AC, Walters I, Savarirayan R, et al. Intellectual outcomes
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68. Hockstein NG, McDonald-McGinn D, Zackai E, et al. Tracheal
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69. Plomp AS, Hamel BC, Cobben JM, et al. Pfeiffer syndrome type 2:
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70. Sgouros S, Goldin JH, Hockley AD, Wake MJ. Posterior skull
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71. Wall SA, Goldin JH, Hockley AD, et al. Fronto-orbital re-operation
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72. White N, Evans M, Dover MS, et al. Posterior calvarial vault
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73. Fearon JA, Varkarakis GM, Kolar J. A comparative study of
anterior cranial vault distraction versus remodeling. J Craniofac
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74. Scott WW, Fearon JA, Swift DM, Sacco DJ. Suboccipital
decompression during posterior cranial vault remodeling for
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craniosynostosis. J Neurosurg Pediatr. 2013;12:166–170.
75. Marchac D, Renier D, Jones BM. Experience with the “floating
forehead. Br J Plast Surg. 1988;41:1–15.
76. Hoffman HJ, Mohr G. Lateral canthal advancement of the
supraorbital margin. A new corrective technique in the treatment
of coronal synostosis. J Neurosurg. 1976;45:376–381.
77. McCarthy JG, Glasberg SB, Cutting CB, et al. Twenty-year
experience with early surgery for craniosynostosis: I. Isolated
craniofacial synostosis–results and unsolved problems. Plast
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78. Whitaker LA, Schut L, Kerr LP. Early surgery for isolated
craniofacial dysostosis. Improvement and possible prevention of
increasing deformity. Plast Reconstr Surg. 1977;60:575–581.
79. Jackson IA, Munro IR, Salyer KE, Whitaker LA. Atlas of
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80. Fearon JA. Beyond the bandeau: 4 variations on fronto-orbital
advancements. J Craniofac Surg. 2008;19:1180–1182.
81. Thompson DN, Hayward RD, Harkness WJ, et al. Lessons from a
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82. Witherow H, Dunaway D, Ponniah A, Hayward R. Monobloc
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83. Fearon JA. Halo distraction of the Le Fort III in syndromic
craniosynostosis: a long-term assessment. Plast Reconstr Surg.
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84. Hopper RA, Sandercoe G, Woo A, et al. Computed tomographic
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86. Warren SM, Shetye PR, Obaid SI, et al. Long-term evaluation of
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discussion 13–19.

SECTION II • Craniofacial
34 
Craniofacial microsomia
Youssef Tahiri, Craig Birgfeld, and Scott P. Bartlett
SYNOPSIS
■ Patients with craniofacial microsomia (CFM) require the care of a
skilled multidisciplinary clinical team.
■ Phenotypic features of CFM are highly variable. While the three
structures most commonly affected include the auricle, mandible, and
maxilla, abnormal development can occur in any of the derivatives of
the first or second branchial arches.
■ During the evaluation of CFM, it is essential to assess for retroglossal
airspace narrowing and obstructive sleep apnea via endoscopy and
sleep studies, particularly in bilateral cases.
■ Distraction osteogenesis (DO) of the mandible should be considered in
neonates and infants with CFM who exhibit severe respiratory
compromise and who may otherwise require a tracheostomy.
■ Vectors of mandible distraction (vertical, oblique, or horizontal) should
be planned according to treatment goals.
■ In cases of severe mandibular hypoplasia, staged procedures with
grafting (non-vascularized or vascularized bone) should be performed,
often followed by DO.
■ If two-jaw surgery is to be performed for CFM, a two-splint
(intermediate splint) technique is used and the technique is usually
deferred until skeletal maturity has been achieved.
■ Orthodontic monitoring is important throughout the years of
growth and development. Interventions are especially important
during and after the distraction process to prevent undesired
movements (i.e., anterior open bite, lateral shift) and in the period
surrounding two-jaw surgery.
Introduction
Craniofacial microsomia (CFM) involves a spectrum of con­
genital malformations of craniofacial structures that arise
from or are intimately related to the first and second branchial
arches: the mandible, maxilla, external and internal ear, orbit,
temporal bone, facial soft tissue and muscles, and the facial
nerve1 (Fig. 34.1). These malformations result in differences in
facial aesthetic appearance and various functional difficulties
with feeding, hearing, airway anatomy, facial expression,
speech, and globe protection. Given the broad spectrum of
severity of presentation, the care of patients with CFM should
be approached in a multidisciplinary craniofacial team setting
that includes plastic surgeons, craniofacial surgeons, micro­
surgeons, otolaryngologists, ophthalmologists, pediatricians,
feeding specialists, psychologists, speech therapists, and
nursing.
Basic science/disease process
Incidence
Craniofacial microsomia represents one of the most common
congenital malformations of the head and neck, second only
to cleft lip and palate.2,3 CFM has an incidence estimated and
raging from 1 : 642 to 1 : 26 000.4–8 The majority of CFM cases
occur in a sporadic fashion; however, the presence of CFM in
successive generations may suggest the presence of various
modes of genetic inheritance.
CFM may be unilateral or bilateral. Although bilateral
hypoplasia has been noted in 5– 30% of cases, when present,
it is generally asymmetric.9,10 Patients diagnosed with unilat­
eral involvement often have subtle abnormalities of the ear,
mandible, or orbit on the contralateral side. The higher ratio
of bilateral involvement in more recent reviews may be due
to an increased appreciation/documentation of subtle contra­
lateral soft-tissue anomalies, such as macrostomia, cheek
hypoplasia, preauricular skin tags, etc.
Although many studies have demonstrated a right-sided
and male predominance, others have found equivalent right/
left and gender distributions. For instance, Grabb reported a
male predominance, with a male-to-female ratio of 63 : 39,5
and Rollnick11 reported a similar ratio of 191 : 103. The clinical
series of Horgan et al.12 reported an equal sex ratio of 59 males
to 62 females.

775
Basic science/disease process
facial musculature, and the majority of the external ear (infe­
rior portion helix, antihelix, antitragus and lobule).13–16
During the first trimester all branchial arches have their
own artery arising from the aortic arch.16,17 The first aortic
branch supplies the first branchial arch and the second sup­
plies the second branchial arch. In the third week of gestation,
the internal and external carotid arteries develop from the
third branchial arch, while the first and second aortic arch
become less necessary. The remnant of the second aortic arch
is the stapedial artery, which forms the anastomosis between
the internal and external carotid arteries in the fourth week
of gestation. During this week the stapedial is the main blood
supply for the first and second branchial arches. In the fifth
week the stapedial artery atrophies and disappears and
around day 40 of gestation the external carotid artery supplies
the blood for the first and second branchial arches.15–17
Etiology
The etiology of CFM remains unclear but is probably hetero­
geneous among individuals, with variable contributions from
extrinsic and intrinsic factors. It has been thought primarily
to be associated with vascular perturbation, teratogen expo­
sure, neural crestopathy, or a combination of the three.
The first hypothesis raised involves a vascular disruption
in the development of the first and second branchial arches
during the first 6 weeks of gestation. Poswillo18–20 reproduced
in mice some of the phenotypic anomalies seen in CFM phe­
notype by administering teratogens (triazine) that caused a
hematoma of the stapedial artery and resulted in local and
regional necrosis (Fig. 34.2). The wide spectrum of resulting
facial anomalies was felt to be caused by the vascular injury,
the resulting tissue necrosis, and its inability to regenerate.
Although a “stapedial artery hemorrhage etiology” is attrac­
tive because the vessel is a second branchial arch derivative,
a causative association between the bleeding and the deformi­
ties has not been made. The hemorrhages occurred 14 days
after administration of the teratogen, and there was no clear
temporal relationship between the hemorrhage appearance
and the associated phenotypic deformity. When mice are
exposed to triazine later in development (10 days of gesta­
tion), all animals developed deformities; however, only a
third showed evidence of a hematoma. The authors concluded
that triazine has a direct teratogenic effect and the stapedial
Embryology of the structures involved
The first branchial arch (mandibular arch) gives rise to the
maxilla, mandible, zygoma, trigeminal nerve, muscles of
mastication, connective tissue of the face, and a minority of
the external ear (tragus, root of helix, superior portion of the
helix). The second branchial arch (hyoid arch) gives rise to the
stapes, styloid process, portions of hyoid bone, facial nerve,
A
Fig. 34.1  A 5-year-old boy with right craniofacial microsomia. (A) AP view
highlighting the facial asymmetry, soft-tissue deficiency on the right side, orbital
dystopia, mandibular asymmetry, and right macrostomia. (B) Right lateral view
demonstrating right anotia/microtia and again soft-tissue deficiency.
B
Fig. 34.2  Mouse phenocopy of craniofacial microsomia induced by the administration of triazine. (A) Histologic section of the head showing bilateral hematomas. The
smaller one is in the ear region (right), and the large one encompasses the ramus and angle of the mandible (left). (B) Normal ear–jaw relationship at full term in the
normal animal. (C) The diminutive helix and abnormal mandible in the unilateral craniofacial microsomia phenocopy. (Reproduced from Poswillo D. The pathogenesis of the
Treacher Collins syndrome [mandibulofacial dysostosis]. Br J Oral Surg. 1975;13;1.)
A
B
C

776
SECTION II
CHAPTER 34 • Craniofacial microsomia
with CFM and rejected the hypothesis that genetic transmis­
sion is not a causative factor. The evidence favored autosomal-
dominant inheritance; however, recessive and polygenic
models were not distinguishable. Despite the suggestion of
autosomal-dominant transmission, they found only a 2–3%
overall recurrence rate in first-degree relatives. This figure
compares to the 10% recurrence risk in first- and second-
degree relatives reported by the same group in an earlier
study of 294 individuals with CFM.
Studies on the incidence and expression of craniofacial
anomalies in twins have provided insight into the etiology of
CFM. Mulliken’s group24 described 10 twin pairs with CFM.
Only one of the pairs, who were monozygotic, was concordant
for the anomaly. Other twin studies have noted a high level
of discordance of CFM among monozygotic twins.
To summarize, the exact etiology of CFM is still a matter of
debate. This clearly heterogeneous entity is likely to involve
multiple factors, including genetic anomalies with various
intrinsic modifiers to extrinsic insults such as teratogens or
vascular events.
Terminology
Since its earliest descriptions by Canton25 and Von Arlt4 in
1861 and 1881, respectively, a variety of names have been
adopted for this anomaly. These include craniofacial microso­
mia,26 hemifacial microsomia,26 first and second branchial arch
syndrome,5,27 otomandibular dysostosis,28,29 auriculobranchio­
genic dysplasia,30 intrauterine facial necrosis,31 lateral facial
dysplasia,32 hemignathia and microtia syndrome,27 necrotic
facial dysplasia,33 oto-mandibular-facial dysmorphogenesis,34
mandibular laterognathism,35 oculoauriculovertebral spec­
trum,36 and facioauriculovertebral malformation complex.37
This extensive list attests to the difficulty of satisfactorily
labeling the breadth of malformations defining this syndrome.
Indeed, as Longacre et al. noted: “The prominent feature of
these dysplasias is their variability.”38
Pathology
Orbit
Variable abnormalities of the ipsilateral zygomatico-orbital
region are a common finding. The orbit can be of a smaller
size and/or can have an abnormal position. These anomalies
can occasionally lead to orbital dystopia (see Fig. 34.1A).
Moreover, periocular abnormalities may range from mild
inferior displacement of the lateral canthus and/or palpebral
fissure to microphthalmia/anophthalmia. In rare instances,
colobomas of the iris or upper lid with absence of the eye­
lashes may also be noted.39
Mandibular deformity
The mandible has long been considered the “cornerstone” of
craniofacial microsomia and is always involved to a degree.40,41
Mandibular hypoplasia may range from mild hypoplasia or
flattening of the condylar head to complete agenesis of the
condyle, ramus, and glenoid fossa (Fig. 34.3). A wide array of
temporomandibular joint abnormalities results from the vari­
able mandibular hypoplasia, leading to deformities ranging
from mild malpositioning with aberrant cranial base
artery findings were simply a side effect. In contrast to those
described by Poswillo, these animals demonstrated more
evidence of bilateral deformities and inner-ear anomalies.
Moreover, rats exposed to etretinate, a retinoic acid derivative,
show deformities comparable to the first and second branchial
arch syndromes. This finding is consistent with the finding
that neural crest cells express large amounts of retinoic acid-
binding proteins. Furthermore, when retinoic acid is admin­
istered early in development, it interferes with cell migration.
When administered later in gestation, however, retinoic acid
kills ganglionic placodal cells, resulting in a deformity similar
to mandibulofacial dysostosis (Treacher Collins).
On the other hand, intermittent occlusion of the internal
carotid system of fetal sheep late in gestation has been shown
to result in deformities similar in appearance to CFM. The
vascular disruption hypothesis, therefore, cannot be excluded.
In an effort to evaluate associations between the individual
deformities associated with CFM in a large cohort of patients,
Tuin et al.’s study21 revealed significant associations between
deformities of the orbit, mandible, and soft tissue. Nerve
involvement and ear deformity were significantly associated
as well as nerve involvement and soft-tissue deficiency. A
higher degree of deformity of the individual OMENS compo­
nents demonstrated that the mandible, orbit, and soft tissue
on the ipsilateral side were associated with the presence of
macrostomia. Thus, they hypothesized that the embryologic
origin of the structures involved in CFM could explain the
findings in this study. The degree of deformity of the different
structures derived from the first branchial arch are signifi­
cantly associated. These first arch abnormalities include
orbital deformity (since the lower orbital rim is formed by the
zygoma and maxilla), mandibular deformity, and macrosto­
mia, resulting from the mal-fusion of the mandibular and
maxillary process of the first branchial arch. However, the
facial nerve and the majority of the ear (85%) develop from
the second branchial arch. Their findings demonstrate that
these structures, mainly derived from the second branchial
arch, are also significantly associated. Additionally, the degree
of facial nerve involvement as well as the severity of the ear
deformity are also correlated.21
Studies have suggested a fundamental role for genetic
transmission in some patients.22 Autosomal dominant and
recessive transmission patterns have been described in
families with features of CFM, and a positive family history
of 50% has been observed in a large series of cases. This etio­
logic heterogeneity, along with variability in penetrance and
expression, could account for the wide phenotypic spectrum
seen in CFM. Recently, studies in mice showed inactivation or
the allelic reduction of Edn1, Ednra, Dlx5, Dlx6, Gsc, Pitx1, and
Gbx2, all of which result in a proximal defect of the developing
mandible or of the middle and external ear, which is also
characteristic of CFM. Support of a genetic etiology of CFM
has come from both animal and human studies. A transgenic
mouse model for CFM with an insertional deletion on mouse
chromosome 10 has been described with an autosomal-
dominant mode of transmission and 25% penetration. The
affected animals display low-set ears, unilateral microtia, and
jaw asymmetry, without evidence of middle-ear abnormality.
Various human genetic studies have documented a posi­
tive family history in 9.4% of 32 probands, 21% of 57 probands,
26% of 88 probands, and 44% of 82 probands. Kaye et al.23
performed segregation analysis on 74 families of probands

777
Pathology
secondary to vertical growth inhibition by the pathologically
small mandible.
Those findings were confirmed by Song et al.46 who dem­
onstrated that the occlusal disharmony is due to an anomaly
of the alveolus and teeth, with no differences noted between
the affected and unaffected sides with regards to maxillary
shape and volume.
Ear
It is not surprising that auricular and/or preauricular malfor­
mations are fundamental if not mandatory features of this
syndrome since portions of the external/middle ear and
mandible share a common embryologic origin.47 When present
as isolated findings, auricular malformations such as microtia
or preauricular malformations such as skin tags or sinuses
may represent the mildest form of craniofacial microsomia.
Auricular malformations seen in CFM are as diverse as those
demonstrated by the syndrome’s other component features.
The ear anomalies associated with CFM can be categorized
into external ear malformations (e.g., microtia), middle ear
malformations and atresia, and the presence of branchial
remnants and sinus tracts.5,47 Although the presence of bran­
chial remnants in isolation is generally not considered part of
the CFM spectrum, the existence of isolated microtia is often
considered a component of CFM as the risk factors and
affected tissues are similar.
Hypoplasia of the external ear can range from mild efface­
ment of auricular architecture to complete auricular agenesis
and external auditory canal atresia. In severe cases, the only
observable evidence of external ear development is repre­
sented by a primitive auricular remnant and located caudally
and ventrally (Fig. 34.4), while in very rare instances, no
remnant is observable. Variable hypoplasia of middle ear
structures is also a common feature. External and middle ear
dysplasia may result in hearing loss, predominantly conduc­
tive in nature, in up to 75% of patients.48 The severity of the
external ear deformity may predict the degree of middle ear
involvement.
articulation to complete obliteration. The mandibular body
may also be reduced in all dimensions, frequently with an
increase in the size of the gonial angle.42 Steinbacher et al.43
sought to volumetrically evaluate and characterize the man­
dible in CFM compared with controls, and to assess for
Pruzansky score correlation. As expected, with increasing
Pruzansky severity, hemimandibular and proximal segment
volumes declined. The hemifacial dentate segment also
proved significantly diminished, corresponding to the degree
of proximal volume loss.
Maxillary deformity
Historically, it was believed that the mandibular deformity
was associated with a maxillary hypoplasia.44 It was accepted
that the maxillary hypoplasia in combination with mandibular
deficiency frequently results in dental malocclusion and,
depending on the severity of the maxillomandibular defi­
ciency, an upward occlusal cant to the affected side.
A recent study by Wink et al.45 shed new light on the
maxillary deformity in craniofacial microsomia. In evaluat­
ing volumetric differences as well as linear measurements
between bony structures in the affected side vs. the unaffected
side on the same patients, they found little or no relation­
ship between the mandibular and maxillary deformity. Their
results demonstrated an absence of any notable midface bone
and sinus volume loss in patients. Two-dimensional cepha­
lometric analyses of the maxillary segmentation models also
showed no statistically significant differences between the
mean values for maxillary width, depth, and height within
all severity groups.
While analysis of the measurement ratios (ipsilateral/
contralateral) of all volume and linear measurements across
severity groups found a statistically significant difference
among mandibular volumes, there was no statistically signifi­
cant difference in the ratio of maxillary bone volume when
grouped by degree of mandibular deformity.
Those findings suggest that the maxillary anomaly is not a
true volumetric deficiency. The maxillary cant observed is
Fig. 34.3  3D CT scan of the head and face of a CFM patient with a severe left mandibular deformity that includes an absent ramus and condyle coronoid as well as a
smaller body compared to the contralateral side. (A) AP view. (B) Left lateral view. (C) Worm’s eye view.
A
B
C

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CHAPTER 34 • Craniofacial microsomia
Fig. 34.4  A 4-year-old boy with severe left craniofacial microsomia and microtia. Note the only observable evidence of external ear development is represented by a
primitive auricular remnant located caudally and ventrally. (A) AP view. (B) Left lateral view. (C) Worm’s eye view.
A
B
C
Nervous system
A wide variety of cerebral anomalies exist in CFM22 and may
include ipsilateral cerebral hypoplasia, hypoplasia of the
corpus callosum, hydrocephalus of the communicating type
and obstructive type, intracranial lipoma, and hypoplasia and
malformation of the brainstem and cerebellum. Other associ­
ated abnormalities include cognitive delay, epilepsy, and
encephalographic findings suggestive of epilepsy.
Cranial nerve abnormalities are frequent in CFM and can
include arhinencephaly of the unilateral and bilateral type,
unilateral agenesis and hypoplasia of the optic nerve with
secondary changes in the lateral geniculate body and visual
cortex, congenital ophthalmoplegia and Duane retraction
syndrome, hypoplasia of the trochlear and abducens nuclei
and nerves, congenital trigeminal anesthesia, and aplasia of
the trigeminal nerve and motor and sensory nucleus.
The most common cranial nerve anomaly is facial paralysis
secondary to agenesis of the facial nerve in the temporal bone
or hypoplasia of the intracranial portion of the facial nerve
and facial nucleus in the brainstem.49,50 The facial nerve (CN
7) can be affected in craniofacial microsomia to varying
degrees. Upper nerve function, lower nerve function, or total
nerve function can be compromised. In rare instances, the
hypoglossal nerve (CN 12) and trigeminal (CN 5) can also be
affected.
Soft tissue
Variable deficiency of facial soft tissues contributes greatly to
the phenotypic spectrum of craniofacial microsomia. The
deficiencies may involve the skin, subcutaneous fat, and
neuromuscular tissues. This deficiency is mostly evident in
the malar and masseteric region of the face as well as in the
region of the external ear, orbit, and the temporal region (Fig.
34.5). Lack of soft-tissue bulk contributes to a characteristic
malar flattening and temporal hollowing that is best appreci­
ated when viewed from a submental perspective.
Moreover, this appearance may be accentuated by hypo­
plasia involving the muscles of mastication including the
temporalis, masseter, and medial and lateral pterygoids,
leading also to an impairment of the masticatory muscle func­
tion on the affected side.
Macrostomia
Macrostomia, or clefting through the oral commissure (Tessier
number 7 cleft), and hypoplasia of the parotid gland may also
be present.51 This may vary from a minor deformity ending
medial to the anterior border of the masseter, to a severe cleft
through all structures, and terminating in the external audi­
tory canal.
Fig. 34.5  A 7-year-old female with left CFM (bilateral view). Note the facial
asymmetry and the significant soft-tissue deficiency on the left side.

779
Natural history of the disease
Extracraniofacial anomalies
A vast range of associated extracraniofacial anomalies has
been reported in the craniofacial microsomia literature,
including skeletal, cardiac, renal, gastrointestinal, and pulmo­
nary malformations.11,12 For instance, the constellation of
hemifacial hypoplasia, epibulbar lipodermoids, and vertebral
anomalies, including fused and/or hemivertebrae, defines
one of the subsets of CFM named Goldenhar syndrome7 (Fig.
34.7). Once considered a variant of hemifacial microsomia,
Goldenhar syndrome is now widely considered to be part of
the CFM continuum.65–68
Natural history of the disease
Whether the deformity found in CFM is progressive or static
remains unclear.69–76 Longitudinal clinical studies performed
by Kaban et al.69 suggest that restricted growth of the mandible
has a role in the progressive distortion of both the ipsilateral
and contralateral craniofacial skeleton. Conversely, both
Polley et al.70 and Kusnoto et al.71 concluded that growth of the
affected side of the mandible parallels growth of the unaf­
fected side, including both ramal height and body length.
Ongkosuwito et al.72 completed a comprehensive longitu­
dinal study evaluating growth in CFM patients. Their group
compared linear ramal height growth curves for children with
unilateral CFM (non-operated mandible) to the Dutch normal
population. They compared orthopantomograms (OPTs) from
84 patients with unilateral CFM with a control set of 2260
OPTs from 329 healthy individuals, determining mandibular
ramal distances. They demonstrated a clear ramal height dif­
ference between CFM patients (both affected and unaffected
sides) and the control group; however, the growth increase
over time was the same in both groups. This significant ramal
height difference also occurred within CFM patients between
affected and unaffected ramal heights. Furthermore, their
results demonstrated a similar constant increase over time,
but a clear difference in ramal height between the “mild” and
“severe” HFM groups.
Cranial base
Studies have found notable correlation between cranial base
and facial asymmetry, with several authors documenting that
cranial base asymmetry contributes to facial asymmetry.52–61
This association was based on the fact that the anterior and
middle cranial fossae of the cranial base articulate with the
face and, as such, may affect, or be affected by, alterations in
facial morphology.
Paliga and associates62 used craniometric measurements
to characterize the endocranial morphology of the anterior
and middle cranial fossae in patients with CFM. The results
of their study indicate that there is minimal to no deviation
of the anterior cranial base angle, and absent or minor
asymmetry of the endocranium in patients with CFM,
implying that endocranial asymmetry is not the origin of
facial dysmorphology seen in hemifacial microsomia (HFM)
(Fig. 34.6).
Tongue dysmorphogenesis
Tongue dysmorphologies in craniofacial microsomia, although
usually mild, are frequently overlooked. Tongue dysmorpho­
genesis, ranging from mild asymmetry to severe hypoplasia,
may contribute to the feeding and speech difficulties encoun­
tered in this patient population. Chen et al.63 reported a posi­
tive correlation of the tongue, soft tissue, and mandible
anomalies, pointing to a common error early in gestation or
an interdependence of adjacent growth centers.
Palatal anomalies
Ipsilateral palatal anomalies including weakness or paralysis
of the velum have been found in patients with CFM. If sig­
nificantly affected, velopharyngeal insufficiency can result
and surgery (pharyngoplasty) required to obtain normal
speech. One study identified 50% of CFM patients having
hemipalatal paresis with 14% having overt velopharyngeal
insufficiency.64
Fig. 34.6  Mean cranial base axis angulation in patients with HFM (blue) and
controls (red) differed by less than one degree. This difference was found to be
statistically insignificant.
Fig. 34.7  A 4-year-old female with left craniofacial microsomia (specifically
Goldenhar syndrome) with left epibulbar dermoid.

780
SECTION II
CHAPTER 34 • Craniofacial microsomia
was done on the basis of conventional radiographs including
posterior/anterior, lateral, submental, and panoramic views,
and physical examination and photographs.40,75 The pictorial
representation of the OMENS+ system was described by
Gougoutas et al.79 and consists of illustrations of the spectrum
for each malformation. This allows the clinician to rate the
severity and assign a classification score by circling the appro­
priate diagram for each feature and can be easily incorporated
into the patient’s medical record.
Scoring of the orbital deformity reflects orbital size and
position. The latter, when abnormal, is marked with an arrow
indicating superior or inferior displacement.
Scoring within the mandible category is done so on the
basis of radiographs and uses the system of Pruzansky, later
modified by Kaban75 (Table 34.1, Fig. 34.9):
Type I: All mandibular and temporomandibular joint
components are present and normal in shape, but are
hypoplastic to a variable degree.
Type IIA: The mandibular ramus, condyle, and
temporomandibular joint are present but are hypoplastic
and abnormal in shape.
Type IIB: The mandibular ramus is hypoplastic and
markedly abnormal in form and location, being medial
and anterior. There is no articulation with the temporal
bone.
Type III: The mandibular ramus, condyle, and
temporomandibular joint are absent, and the lateral
pterygoid muscle and temporalis, if present, are not
attached to the mandibular remnant.
Scoring of external ear anomalies uses the systems of
Marx80 and Meurman,81 with the addition of the grade 0 cat­
egory meant to reflect the absence of any observable external
ear malformation.
Scoring within the facial nerve category groups, the zygo­
matic and temporal branches into one group and the buccal,
marginal mandibular, and cervical branches into another, thus
Diagnosis/patient presentation
Differential diagnosis
The differential diagnosis of facial asymmetry includes
Romberg syndrome, facial lipodystrophy, temporomandibu­
lar joint ankylosis, postradiation deformity, condylar hyper­
plasia, and hemifacial hypertrophy. Treacher Collins syndrome
or severe orbitofacial clefts can also be confused with bilateral
CFM; however, the deformed ramal and condylar findings so
characteristic of CFM are not present.77
Postnatal trauma or an infection affecting the condyle and
condylar cartilage can result in decreased mandibular growth,
leading to a secondary effect on the growth of the surround­
ing ipsilateral craniofacial skeleton. However, unlike postnatal
deformities, CFM is characterized by soft-tissue deficiency,
external ear malformations on the affected side as well as
more widespread involvement of the skeleton, including the
temporal bone, mastoid, and skull base. Moreover, the
anomalies seen in patients with CFM are always present at
birth. Minimal diagnostic criteria for CFM have been sug­
gested by Cousley and Calvert78 as “(1) ipsilateral mandibular
and ear defects or (2) asymmetric mandibular or ear defects
in association with either (a) two or more indirectly associated
anomalies or (b) a positive family history of CFM. Indirectly
associated anomalies were defined as those ‘not normally
related either in terms of developmental fields or function’ ”.
Classification systems
The development of clinically useful classification systems is
a dilemma confronting all fields of medicine. The optimal
categorization for any disorder is a system that is easily per­
formed, reproducible between evaluators, and helpful in
predicting treatment and prognosis.
In a classic article published in the late 1960s, Pruzansky
segregated the mandibular anomalies of craniofacial microso­
mia into three grades (types I through III) of increasing
hypoplasia based largely on the morphology of the ramus and
condyle.34 The assumed normal and unaffected contralateral
hemimandible formed the basis of comparison in all types. It
should be noted that the Pruzansky classification (as later
modified by Kaban and colleagues)75 is replicated exactly,
with a minor modification in nomenclature, in the mandibular
portion of the OMENS classification system.
The most comprehensive classification scheme is the
OMENS (Orbital Mandible Ear Nerve Soft tissue) classification,
later modified to the OMENS+ to include extracranial manifes­
tations (Fig. 34.8). In the words of Cohen67: “The OMENS clas­
sification of hemifacial microsomia…is a welcome addition to
the literature on the subject.” This system was developed by
Vento et al. in 1991.41 They evaluated 154 patients with CFM
and substratified each of five anatomical manifestations of
CFM according to dysmorphic severity on a scale from 0 to 3.
The five anatomical manifestations each constitute one letter
of the acronym: orbital asymmetry, mandibular hypoplasia,
ear deformity, nerve dysfunction, and soft-tissue deficiency.
This system quantifies the mandibular malformations using
Kaban’s modification of the Pruzansky system, and allows for
detailed characterization of the orbital, auricular, facial nerve,
and soft-tissue deficiencies to assign a severity score. Scoring
Table 34.1  Pruzansky classification of mandibular deformity with
Kaban, Padwa, and Mulliken modification.
Type
Description
I
All mandibular and temporomandibular joint
components are present and normal in shape but
hypoplastic to a variable degree.
IIa
The mandibular ramus, condyle, and
temporomandibular joint are present but hypoplastic
and abnormal in shape.
IIb
The mandibular ramus is hypoplastic and markedly
abnormal in form and location, being medial and
anterior. There is no articulation with the temporal
bone.
III
The mandibular ramus, condyle, and
temporomandibular joint are absent. The lateral
pterygoid muscle and temporalis, if present, are not
attached to the mandibular remnant.
(Adapted from Kaban LB, Padwa BL, Mulliken JB. Surgical correction of
mandibular hypoplasia in hemifacial microsomia: the case for treatment in early
childhood. J Oral Maxillofac Surg. 1998;56:628–638.)

781
Diagnosis/patient presentation
Fig. 34.8  Pictographic illustration of the OMENS+ classification.
Orbit
OO
MO
EO
NO
SO
C1
C2
S1
S2
S3
N1
N2
N3
E1
E2
E3
O1
O3
M3
M1
O2 inferior
M2A
O2 superior
M2B
Mandible
Nerve
Soft tissue
Tessier cleft 7
Ear

782
SECTION II
CHAPTER 34 • Craniofacial microsomia
Fig. 34.9  Pruzansky/Kaban classification of the mandibular deformity in CFM.
A
Type I
B
Type IIA
C
Type IIB
D
Type III
divides facial nerve involvement into upper and lower halves.
The absence of nerve involvement with pan-hemifacial
paralysis has a respective category.
Finally, scoring of soft-tissue deficiencies uses a modified
version of the system developed by Murray and colleagues3
and grades subcutaneous/muscular deficiency as either
absent, mild, moderate, or severe. Classification for each side
of the face is done separately in cases of bilateral CFM.
To include significant extracraniofacial anomalies, the
OMENS classification was modified by Horgan et al. in 199512
to allow for the optional addition of a plus sign (OMENS+)
to denote the presence of those associated extracraniofacial
anomalies.
Moreover, criticism has centered on the system’s definition
of orbital dystopia. Cousley and Calvert78 suggested that this
definition needs to be further refined so as to clarify the
amount of radiographic evidence needed to classify the orbit
as abnormal in both size and position (O3 designation). A final
suggestion, also by Cousley,82 calls for the expansion of
the auricular category to include both middle ear and
preauricular defects. Additionally, this system does not
account for or describe the often-associated lateral facial cleft
(macrostomia) nor the tongue or palatal dysmorphology.
Despite these criticisms, the OMENS system represents a
very accessible, flexible, comprehensive, and largely objective
means of classifying the range of abnormalities constituting
the spectrum of CFM. The grading systems within each cat­
egory encompass the full range of dysplastic severity, defining
each anatomical malformation in a very simple and reproduc­
ible manner. The use of a numeric classification also serves to
objectify, within limits, the many inherently subjective fea­
tures of this disorder and in doing so aids in the analysis of
this population within and between institutions.
Bartlett and associates developed an anatomical classifica­
tion utilizing 3D computed tomography (CT) scans with the
hope of better capturing the wide spectrum of disease and
guiding treatment, specifically of the mandibular deformity.
The findings of an initial survey suggest that the grading
system of the mandibular deformity in CFM based on con­
ventional radiographs and that application of the Pruzansky/

783
Diagnosis/patient presentation
The classic lateral cephalogram provides information on
maxillomandibular relationships, as well as the deviation of
the bone and soft-tissue profile from documented norms. The
posteroanterior and basilar cephalograms are equally impor­
tant in assessing patients with CFM in that they allow docu­
mentation of the facial midline and the degree of facial
asymmetry in three dimensions, when combined with the
lateral view.
Grayson et al. described the technique of multiplane cepha­
lometry.87 With lateral, coronal, and basilar radiographs,
skeletal landmarks can be identified in three coronal and three
axial planes and used to construct an estimation of the midline
for each plane. These midlines are compared with the mid-
sagittal plane, which is determined by relatively stable bilat­
eral structures such as the occipital condyles, the center of the
foramen magnum, and the medial axis of the spheno-occipital
synchondrosis. By use of this technique, a phenomenon
termed warping can be observed within the skeleton of the
patient with CFM. The midline constructs deviate progres­
sively laterally as one passes anteriorly from the skull base to
the piriform rim in the coronal plane and inferiorly from the
orbits to the mandible in the axial plane.
Computed tomography
CT, including cone beam imaging, has become the primary
diagnostic and evaluation tool for all patients with CFM.
Unlike cephalography, it does not suffer from superimposi­
tion of skeletal landmarks, and both bone and soft tissues can
be imaged. Axial and coronal cuts provide detailed informa­
tion regarding bone and soft-tissue asymmetry, as well as the
severity of malformation throughout the entire craniofacial
skeleton.
Because data derived from the CT scan are computer-based,
programs can be written to present the information in any
number of formats, including three-dimensional (3D) CT and
multiplanar reformation. 3D CT images provide a visual
summary of the underlying skeleton, which can be viewed
and analyzed at any angle. These images can also be easily
shared with patients and families, and may be very helpful
when discussing possible treatment plans. Another useful
manipulation of CT data is multiplanar reformation (CT/
MPR), or DentaScan, which processes axial CT scan informa­
tion to obtain true cross-sectional images and panoramic
views of the mandible and maxilla similar to a Panorex. This
is invaluable when imaging tooth follicles in relation to
Kaban classification to 3D CT scans have shown low inter-
rater reproducibility.83 They proposed and validated a classi­
fication system that incorporates both diagnostic criteria
based on 3D CT scans and corresponding treatment modality(s)
based on the severity of deformity84 (Table 34.2). Each hemi-
mandible is characterized as normal (T0), mild (T1), moderate
(T2), or severe (T3 and T4). Type 1 is distinguished from type
0 if the mandible shows noticeable hypoplasia, relative to the
contralateral side in hemifacially-affected patients. Type 2 is
distinguished from type 1 if the ramus shows sufficient verti­
cal deficiency to anticipate an ipsilateral cross-bite or overjet
of more than several millimeters in childhood, but with a
condyle that permits functional articulation. Type 3 is distin­
guished from type 2 by a ramus–condylar complex that is
either absent or rudimentary to the degree that it would not
likely be functional even if lengthened. Type 3 is distinguished
from type 4 by a mandibular body that has sufficient bone
stock to support a costochondral graft neocondyle construc­
tion, as opposed to requiring a free fibular flap (see Table 34.2).
Broader, more complex, and occasionally nebulous classi­
fication systems have also been developed that encompass
multiple features of the CFM spectrum.
For example, in 1963, Longacre et al.38 divided CFM patients
into two groups displaying either unilateral or bilateral facial
microsomia. These two groups were then further subdivided
into four classes of increasing facial deformity. The facial
characteristics that defined each class were not specified.
In 1965, Grabb5 segregated CFM patients into one of six
groups defined by varying combinations of skeletal and soft-
tissue deficiencies. Rollnick et al.11 have also developed a
mixed feature classification comprised of five groups, each
with microtia as the fundamental feature. Edgerton and
Marsh.8 divided patients into four groups based on the
“dominant dysplasia” (mandible, soft tissue, ear, composite).
Finally, one last classification system of note, developed by
David et al.,85 is modeled after the tumor, node, metastasis
(TNM) grading system of malignant tumors.86
At the current time, the Pruzansky/Kaban classification
remains the most commonly used system, but with the advent
of technology, it is expected that it will be displaced by a 3D
CT-based system in the future.
Cephalometrics
In addition to CT and cone beam scans, cephalograms are an
often-used tool in evaluating facial skeletal structures.
Table 34.2  Bartlett classification of the CFM mandibular deformity
Type
Diagnostic features
Anticipated treatment
0
Normal
Normal
None
1
Mild deformity
Mandible mildly hypoplastic, condyle in
normal position
Orthodontics or combined orthognathic
surgery and orthodontics in adolescence
2
Moderate deformity
Mandibular ramus moderately deficient
vertically, condyle functional
Childhood distraction osteogenesis
3
Severe deformity, adequate
mandibular body
Condyle and ramus rudimentary/absent,
adequate mandibular body bone stock
Non-vascularized (e.g. costochondral)
bone graft
4
Severe deformity, inadequate
mandibular body bone stock
Condyle and ramus rudimentary/absent,
inadequate mandibular body bone stock
Vascularized (e.g. free fibular) bone flap

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CHAPTER 34 • Craniofacial microsomia
of type III mandibular deformity), in which mandibular
distraction cannot be performed, tracheostomy may be
necessary.
For infants with severe swallowing/eating problems, a
gastrostomy is indicated to improve the nutritional status of
the child and to provide the calories essential for growth and
development. The nutritional problem is often compounded
by the increased energy requirements associated with respira­
tory insufficiency.
Commissuroplasty
Clefts of the lip and/or commissure (Tessier VII clefts of
macrostomia) are typically repaired in infancy to increase
feeding efficiency.88
Commissuroplasty, or closure of the lateral facial cleft, is
indicated in patients with macrostomia or a true lateral facial
available bone stock in the immature patient, who is too
young for conventional dental imaging and in whom man­
dibular distraction is planned.
Cone beam CT scan technology allows detailed imaging of
the maxillomandibular complex at reduced cost, radiation
exposure, and time as compared to conventional helical CT
scans.
Magnetic resonance imaging
With the improved accuracy of CT scans, magnetic resonance
imaging (MRI) adds little information not obtained by CT
scan and does not provide the precision of CT when it comes
to assessing bone. On the other hand, it may be helpful in
imaging brain and other soft tissues in CFM patients with
severe deformities.
Endoscopy
In patients with respiratory insufficiency or sleep apnea,
endoscopy is indicated to document the site of obstruction. In
bilateral CFM, and occasionally in unilateral CFM, there can
be significant tongue-based airway obstruction that can lead
to life-threatening retroglossal narrowing secondary to man­
dibular deficiency. Endoscopy can also visualize the remainder
of the tracheobronchial tree to rule out other sites of
obstruction.
Sleep studies
In patients with symptoms of obstructive sleep apnea, sleep
studies (polysomnography) can define the degree of the
respiratory dysfunction. Polysomnography, along with the
interpretation of clinical symptoms and endoscopic findings,
can be invaluable in determining whether surgical interven­
tion (i.e., mandibular distraction) is indicated.
Photography
Baseline photography should be obtained using standardized
lighting and head positioning with lips at rest. Standardized
records should include full face, submental vertex, bird’s eye,
lateral, oblique smile, and occlusal views. Functional facial
nerve views are also requisite. The development of 3D camera
systems provides a helpful tool for quantitatively document­
ing the deformity and recording volumetric and contour
changes following surgical interventions; it is also an impor­
tant component of the preoperative planning process.
Treatment/surgical technique
Tracheostomy/gastrostomy
In the neonatal period, tracheostomy can be a lifesaving
maneuver in patients with severe respiratory distress, but the
need for this treatment modality has been lessened in recent
years with the introduction of mandibular distraction. Some
newborns requiring perinatal endotracheal intubation can
successfully tolerate extubation several days later as they
mature. However, if extubation is not possible, the need for
mandibular distraction or tracheostomy must be considered
(Fig. 34.10). In severe cases of CFM (more dysmorphic forms
A
Fig. 34.10  A 4-year-old with severe left CFM. He benefited from a tracheostomy in
the neonatal period because of severe respiratory distress. (A) AP view. (B) Left
lateral view. After costochondral rib grafting to the left mandible, he was
successfully decannulated.
B

785
Treatment/surgical technique
Fig. 34.11  Correction of lateral facial cleft
(McCarthy technique). (A) Preoperative appearance,
left-sided lateral facial cleft. (B) Disruption of the
orbicularis sphincter at the commissure.
(C) Markings are made on the white line with ink: A,
oral commissure on unaffected side. B, philtral
column on unaffected side. B′, philtral column on
affected side. A′, proposed oral commissure
(distance = AB). A′ is made more lateral
(overcorrected) because of the expected
postoperative contraction. A dot is placed opposite
on the lower lip. (D) Proposed vermilion turnover
flap (outlined by the interrupted line). (E) Closure of
the oral mucosa. (F) The upper and lower orbicularis
muscle bundles are skeletonized and divided.
(G) Vest-over-pants closure of upper and lower
divided ends of orbicularis muscle bundles. (H) A
simple suture is placed at the white lines at A′s (see
C). (I) Proposed Z-plasty closure. The resulting
central limb must lie in the direction of the
nasolabial fold. (Reproduced from McCarthy JG,
Grayson BH, Hopper RA, Tepper OM. Craniofacial
microsomia. In: Neligan PC, Gurtner GC, Warren RJ,
et al (eds). W B Saunders. 2012; Volume 3, Section
II, Chapter 36:761–791.)
A
B
C
A
A
A
s
B
B
D
A A
s
B
E
F
G
H
I
cleft. Multiple techniques have been described. To be effective
they must (1) normalize the oral commissure position, (2)
reconstruct the orbicularis oris, and (3) minimize scar and
create normal vermillion structures.
Vermilion and oral mucosal flaps are designed after the
position of the projected oral commissure is determined. The
flaps are approximated and sutured with resorbable sutures.
The orbicularis muscle stumps are skeletonized and closed in
a vest-over-pants fashion with resorbable sutures. The cutane­
ous closure may incorporate a Z-plasty designed to simulate
the nasolabial fold (Fig. 34.11).
Nerve palsy management
When facial nerve palsy is identified, it is important to deter­
mine if the patient with CFM can protect and lubricate the

786
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CHAPTER 34 • Craniofacial microsomia
temporomandibular joint. The goal of treatment in each
patient is to achieve appropriate symmetry and occlusion
with an adequate aesthetic outcome. One should aim for
alignment of the maxillary and mandibular dental midlines
with the mid-sagittal plane as well as a correction/leveling
of the mandibular cant and a restoration of facial symmetry.95
Based on these anatomical features, several techniques
have been described with which to approach the hypoplastic
mandible. Reconstruction, however, is dependent on the
degree of ramus and condyle deficiency, with autogenous
bone grafting and distraction osteogenesis representing the
two most common approaches used.
Surgical intervention for patients with Pruzansky type I
mandibular deformity (Bartlett type 1) is often postponed
until skeletal growth is complete. In mild cases, the occlusal
relationship can be managed with orthodontics. However, in
more severe type I cases, orthognathic surgery may be neces­
sary to improve an occlusal cant and facial symmetry. It is
then important to assess the dentofacial relationship and
determine whether the patient needs unilateral or bilateral
mandibular advancement/rotation, or if double jaw surgery
is warranted.
Since patients with Pruzansky type IIA (Bartlett type 2)
mandibular deformity have a present but smaller condyle,
ramus, and sigmoid notch with a glenoid fossa in a satisfac­
tory position, those patients often require some form of verti­
cal lengthening of the mandible. This can be done with either
distraction osteogenesis or an osteotomy and interposed bone
graft performed after skeletal maturity.
Treatment of patients with Pruzansky type IIB (Bartlett
type 3) mandibular deformity remains controversial and
varies depending on the degree of severity. Distraction osteo­
genesis as well as rib grafting have been used alone or in
combination for the treatment of these patients.
On the other hand, patients with severe Pruzansky type III
(Bartlett type 4) mandibular deficiencies require, at a
minimum, bone grafting to create a functional ramus and
condyle unit and to restore mandibular height and facial
symmetry.
Orthognatic surgery
When indicated, traditional maxillomandibular orthognathic
surgery can be a useful tool in the armamentarium of the
craniofacial surgeon treating the skeletally mature patient
with CFM. The mandibular osteotomies include the bilateral
sagittal split of the ramus and the vertical or oblique osteotomy
of the ramus.
Obwegeser96 combined the Le Fort I maxillary osteotomy
with bilateral sagittal split of the mandibular ramus and
genioplasty to ensure leveling of the occlusal plane and
establishment of the optimal occlusal relationships (Fig.
34.12). The Le Fort I osteotomy is repositioned, according to
preoperative plans, and rigid skeletal fixation is achieved with
plates and screws. The sagittal split and vertical or oblique
osteotomies allow repositioning of the tooth-bearing man­
dibular segments. Fixation is achieved with either lag screws
or plates. Genioplasty, usually in three planes, completes the
procedure.
Careful planning is essential. The occlusal cant observed in
unilateral CFM results from a primary reduction in the verti­
cal dimension of the mandible and a secondary reduction of
cornea. If not, eye drops, lubricant, taping, or a surgical pro­
cedure (i.e., tarsorrhaphy, gold weight, eyelid tendon sling)
should be considered. Exposure keratitis can eventually lead
to corneal scarring and permanent blindness.
Patients who cannot move their mouth (i.e., smile) due to
deficiencies of the buccal and marginal mandibular branches
should be offered a facial reanimation procedure. Func­
tional muscle transfer remains the gold standard for facial
reanimation.
One technique involves the transfer of the temporalis
muscle. The temporalis muscle can be detached from the coro­
noid and advanced to the commissure89 or flipped over with
a fascial extension to provide movement of the lateral mouth.90
The advantages of this technique include ease of surgery, ease
of recovery, and reliability of establishing movement. The
disadvantages include weak strength of pull, limitations on
vector of pull, and the need to activate cranial nerve V to
stimulate a smile.
Facial reanimation, with a functional muscle transfer, can
also be accomplished using a two-stage approach with a
cross-face nerve graft and muscle free flap.91 This is the most
common procedure performed. In the first stage, a sural nerve
graft is harvested and attached to the cut end of a redundant
buccal branch on the functioning side. The graft is then passed
through the upper lip to the paralyzed side of the face, where
it sits until axonal ingrowth has occurred (at a rate of 1 mm/
day). In the second stage, the nerve is biopsied to confirm the
presence of myelin; then a muscle free flap is harvested and
brought to the face. The muscle is attached to 4 points: the
commissure, the upper lip, the lower lip, and the zygomatic
arch in a direction that mimics the smile vector on the contra­
lateral normal side. Microscopic anastomosis of the vein,
artery, and nerve are then performed.90 The gracilis muscle is
the most commonly used muscle. This approach allows for
creation of a spontaneous smile in a vector that resembles
more closely the unaffected side. The disadvantages include
length of surgery, recovery time, and need for microsurgical
skills.92
The timing of reanimation surgery must be based on the
patient’s needs and planned around other surgical interven­
tions. It is preferable to perform microtia reconstruction and
major craniofacial and/or orthognathic surgery prior to
undertaking facial reanimation surgery.
Mandibular reconstruction
CFM patients with a normal but hypoplastic ramus, condyle,
and temporomandibular joint (Pruzansky/Kaban types I and
IIA mandibular deformity) retain accurate function and posi­
tion of the temporomandibular joint. Treatment of these
patients can consist of mandibular lengthening by distraction
osteogenesis or conventional osteotomy.93 In type IIB and III
patients, both function and position of the temporomandibu­
lar joint are inadequate, often requiring reconstruction of the
mandible to improve function.94,95
Patient selection
The approach of each patient is on an individual basis. The
treatment of choice should be based on the patient’s needs
and wishes, but also based on both the quantity and
quality of bone stock present and the architecture of the

787
Treatment/surgical technique
cant while at the same time optimizing the lip–incisor
relationship.
Mandibular distraction osteogenesis
Distraction osteogenesis has become a valuable tool for aug­
mentation of hypoplastic bony structures using autologous
tissue. Distraction osteogenesis was initially described by
Ilizarov,97 then applied to the craniofacial skeleton by Snyder98
and popularized by McCarthy.99 Mandibular distraction
osteogenesis (MDO) has several distinct advantages over
costochondral grafting. MDO increases the vertical length of
the mandible, produces greater bone stock and improves soft-
tissue asymmetry. Other benefits include shorter operative
times, less blood loss, greater vector control of advancement,
and the ability to lengthen the mandible at a younger age as
bone grafts are not always necessary. MDO can be used to
treat type IIa and IIb mandibles (Bartlett type 2), and com­
bined with a bone graft for treatment of type III mandibles
(Bartlett types 3 and 4). Variables to control while performing
MDO procedure include the vector orientation, the type of
device to use, and finally an internal or external approach.100–111
The vector of advancement should be based on the man­
dibular shape.112 In some mandibular deformities (Figs. 34.13
& 34.14), a vertical vector alone is often adequate, while in
others a more obliquely oriented vector to treat the vertical
and horizontal ramal deficiency is often required.
Both single and multivector external devices (Fig. 34.15)
and semi-buried internal devices (Fig. 34.16) are available;
each has unique benefits and deficiencies.113 External devices
allow greater freedom to mold the regenerate by changing the
vector of distraction after the osteotomy is made. Addition­
ally, pin placement requires little bone stock, which allows for
accurate placement of the devices in hypoplastic mandibles
and with minimal disruption of the periosteum. However, the
external devices create unsightly scars, dislodge easily, signifi­
cantly alter the patient’s appearance during MDO, and are
prone to pin site infections. Internal devices are less visible,
create less scarring, and are less prone to trauma and infec­
tion. Since the vector cannot be altered once the device is
fixated, greater preoperative planning is necessary with
internal devices. They also require an additional surgery to
remove unless a resorbable system is selected.
The authors’ preferred technique for vertical mandibular
distraction is as follows:
Through an intra-oral gingival–buccal incision, the ramus
and posterior body are exposed in the subperiosteal plane,
and landmarks (coronoid, antegonial notch) are noted. The
site of the corticotomy/osteotomy is then identified and the
vector for distractor placement is noted. Preoperatively, this
has been determined based on radiographs and occlusal
analysis: a primarily sagittal vector when there is little vertical
shortening; an oblique vertical vector when there is both a
vertical and a sagittal deficiency; and finally, a vector obtuse
to the mandibular plane when occlusal relations are normal
sagittally, and a vertical elongation without sagittal advance­
ment is needed.
A conventional or ultrasonic saw is then used to perform
complete osteotomies of the lateral anterior and posterior
cortices leaving the medial cortex intact. The distractor is then
placed. For an internal distractor, a pocket is dissected and an
exit point is created inferior to the mandible on the cervical
the maxillary vertical dimension.45 Moreover, superimposed
on this growth abnormality, some patients may also show
facial findings characteristic of the long-face or short-face
syndrome, as manifested by excessive or deficient maxillary
gingival exposure at rest or on smiling. The ultimate goals of
orthognathic surgery include the correction of the occlusal
A
Fig. 34.12  Combined bilateral sagittal split osteotomy of the mandible, Le Fort I
osteotomy, and genioplasty (Obwegeser). (A) Lines of osteotomy. The large dots
illustrate the deviation of the craniofacial midline, and the arrow designates the
desired direction of movement of the mandible (and maxilla). The shaded areas
represent those portions of the maxilla and the buccal cortex of the mandible to be
resected. Note the area of resection and impaction of the maxilla on the less
affected side. (B) After bone grafting of the maxillary defect and rigid fixation of the
Le Fort I segment. Lag screws are used on the mandibular rami and genioplasty
segment. (Reproduced from McCarthy JG, Grayson BH, Hopper RA, Tepper OM.
Craniofacial microsomia. In: Neligan PC, Gurtner GC, Warren RJ, et al (eds). W B
Saunders. 2012; Volume 3, Section II, Chapter 36:761–791.)
B

788
SECTION II
CHAPTER 34 • Craniofacial microsomia
A
B
C
D
E
F
G
H
Fig. 34.13  A 6-year-old boy with right craniofacial microsomia and a type M2A mandibular deformity, who benefited from right mandibular distraction with a vertical
vector. (A) Photograph, AP view, significant right upper cant. (B) Photograph, right lateral view. (C) Photograph, worm’s eye view. (D) 3D CT scan, AP view. (E) 3D CT
scan, right lateral view. (F) 3D CT scan, left lateral view. (G) Radiograph, AP view, 3 days postoperative. (H) Radiograph, AP view, 2 weeks postoperative.
skin. The distractor is then fixated using transbuccal screws.
The final medial corticotomy is then completed with a saw or
osteotome.
If an external distractor is used, two percutaneous pins are
placed on each side of the osteotomy before it is completed.
The distractor is then placed and the medial corticotomy is
completed.
The device is then activated to be certain a complete sepa­
ration of bone occurs, especially through the medullary bone
since it has been minimally osteotomized. Once completeness

789
Treatment/surgical technique
Continued
I
J
K
L
M
N
O
(I) Radiograph, AP view, distraction completed. (J) Radiograph, lateral view, 3 days postoperative. (K) Radiograph, lateral view, 2 weeks postoperative.
(L) Radiograph, lateral view, distraction completed. (M) Postoperative photograph, AP view. (N) Postoperative photograph, AP view, notice the correction of the cant.
(O) Postoperative photograph, lateral view.
Fig. 34.13, cont’d

790
SECTION II
CHAPTER 34 • Craniofacial microsomia
P
Q
R
(P) Intra-oral photograph demonstrating adequate alignment of the maxillary and mandibular arches. (Q) 3 years post-distraction, photograph, AP view.
(R) 3 years post-distraction, photograph, right lateral view.
Fig. 34.13, cont’d
of the osteotomy is confirmed, the device is returned to its
initial position and the soft tissues closed in layers.
Following a latency period of 2 to 5 days (depending on
the age of the patient), the distraction phase is started at a rate
of 1 mm per day. Patients are followed up weekly with X-rays
to confirm the device functionality and distance of distraction.
The endpoint of distraction is determined by clinical examina­
tion, aiming for alignment of the maxillary and mandibular
dental midlines with the mid-sagittal plane as well as a
correction/leveling of the mandibular cant and a restoration
of facial symmetry. Following distraction, a consolidation
period starts and lasts approximately twice the duration of
the distraction phase.
Coordination between the surgeon and the orthodontist is
critical. Distraction techniques create an open bite once the
mandible is lengthened. To prevent relapse, this open bite
must be maintained until the maxillary dentition can be
brought down to create a stable occlusion. This occurs quickly
in children aged 4 to 6 years and may require little manage­
ment. During mixed dentition, however, the open bite is often
managed through occlusal splints or tooth-borne or bone-
anchored orthodontics. The maxilla may require concomitant
movement with the mandible using bimaxillary distraction
after skeletal maturity or a Le Fort I is performed at the time
of distractor removal.
After the periods of distraction and consolidations are
completed, the distractor is removed. For external devices,
this requires disassembly and pin removal, whereas for an
internal device, a secondary removal procedure is required.
Bone/cartilage grafting
Gillies described the first costochondral graft for temporo­
mandibular joint (TMJ) reconstruction in 1920.114 Since then,
multiple autogenous grafts such as clavicle and sternoclavicu­
lar joint,115 fibula,116 iliac bone117 and metatarsal bone118
have been described for TMJ reconstruction, particularly in
the CFM patient population with mandibular hypoplasia.
However, autogenous costochondral rib graft remains the
method of choice for mandibular/TMJ reconstruction in
children with Pruzansky/Kaban type IIB and III mandibular
hypoplasia (Bartlett type 3).
The authors’ preferred technique95 (Fig. 34.17) is as follows:
Preoperatively: Costochondral grafting for mandibular
reconstruction is offered to children with Pruzansky/Kaban
type IIB and III mandibular hypoplasia, significant occlusal
abnormalities, and facial asymmetry. The goals of the proce­
dure are to reconstruct a new ramus and pseudocondyle with
the rib graft, placing it in a pocket that abuts the cranial base,
subsequently creating a pseudoarthrosis at the cranial base
with an adequate soft-tissue envelope. The authors aim for
alignment of the maxillary and mandibular dental midlines
with the mid-sagittal plane as well as a correction/leveling of
the mandibular cant and a restoration of facial symmetry. No
overcorrection is desired since our technique relies on subse­
quent costochondral rib graft growth. Preoperatively, the
orthodontist works with the surgeon to plan the final man­
dibular position utilizing stone models, radiographic analysis
and clinical assessment. Based upon this model surgery, the
orthodontist creates a prefabricated occlusal splint using
stone models. A large posterior open bite is inherently created
on the affected side as a result of ramus elongation, leveling
the mandibular cant and bringing the chin point to the mid­
sagittal plane. Early in the practice of the senior author, when
no on-site orthodontist was available, the splint was made
intraoperatively using polymethylmethacrylate. Of note, the
prefabrication of the occlusal splint may also be planned
virtually using 3D CT technology.
Intraoperatively: After satisfactory nasotracheal anesthesia
is obtained, a 4 cm submandibular incision is made on the
affected side approximately 1.5 cm below the mandibular
angle. Dissection is performed down to the platysma, which
is divided after we verify with a nerve stimulator the absence
of marginal mandibular nerve fibers. Lifting the platysma

791
Treatment/surgical technique
A
B
C
D
E
F
G
Fig. 34.14  A 5-year-old boy with right craniofacial
microsomia and a type M2A mandibular deformity,
who benefited from right mandibular distraction with a
vertical vector. (A) Photograph, AP view.
(B) Photograph, AP view, significant right upper cant.
(C) Photograph, worm’s eye view. (D) 3D CT scan,
AP view. (E) 3D CT scan, right lateral view.
(F) Intraoperative intra-oral photograph demonstrating
the osteotomy and placement of the distractor.
(G) Intraoperative photograph demonstrating distractor
in place.
Continued

792
SECTION II
CHAPTER 34 • Craniofacial microsomia
H
I
J
K
L
(H) Radiograph, lateral view, 3 weeks postoperative. (I) 3D CT scan, right lateral view,
demonstrating adequate regenerate after distraction. (J) Photograph, AP view, 2 months after removal of distractor.
(K) Photograph, right lateral view, 2 months after removal of distractor. (L) Intra-oral photograph demonstrating
adequate alignment of the maxillary and mandibular arches. (M) 9 years post-distraction, photograph, right lateral
view. (N) 9 years post-distraction, photograph, worm’s eye view.
M
N
Fig. 34.14, cont’d

793
Treatment/surgical technique
superiorly, dissection is carried down to the mandibular
border. The periosteum is incised with the cautery and a wide
subperiosteal dissection of the mandible is performed.
Blunt dissection is then performed superiorly, in the sub­
periosteal plane, always staying deep to the facial nerve, until
a pocket that abuts the cranial base is created. The zygomatic
process of the temporal bone and the zygomatic arch, if
present, can be felt laterally to the pocket, which will host the
costochondral rib graft. Using a bone hook under the chin, the
mandible is brought forward and toward the unaffected side
to correct the retrognathia and align the maxillary and man­
dibular midlines with the mid-sagittal plane. Utilizing the
prefabricated occlusal splint, the patient is put into maxillary–
mandibular fixation (MMF) using IMF screws and 2-0 cross-
connecting wires.
A rib graft is simultaneously harvested from the ipsilateral
6th or 7th costal cartilage through a small transverse incision.
Fig. 34.15  Schematic drawing of an external mandibular distraction device.
Fig. 34.16  Schematic drawing of an internal/semi-buried mandibular distraction
device.
O
P
(O) 9 years post-distraction, intra-oral photograph, AP view, demonstrating adequate alignment of the maxillary and mandibular arches. (P) 9 years
post-distraction, intra-oral photograph, 34 view.
Fig. 34.14, cont’d
After splitting the rectus muscle fibers, the osteocartilaginous
junction is exposed. Using a Doyen rib dissector to strip soft
tissues, dissection is carried medially and laterally to the
osteocartilaginous junction. Laterally, the periosteum is
incised and dissected from the bone up to the osteocartilagi­
nous junction where the periosteum is preserved. Medially,
the perichondrium is preserved for approximately 1 to 1.5 cm
of the osteocartilaginous junction in order to facilitate adher­
ence of the cartilage to the bone and growth at the osteocar­
tilaginous junction. The graft is then harvested from the rest
of the rib using the knife. The cartilaginous head of the rib
graft is rounded off with a knife to give it the desired dimen­
sion, ranging approximately from 0.5 to 1 cm in height
(Fig. 34.18).
With the mandible displaced anterior and inferior, as much
as allowed by the contralateral temporomandibular joint and
local soft tissues, the rib construct is placed in position,

794
SECTION II
CHAPTER 34 • Craniofacial microsomia
A
B
C
D
E
F
G
H
I
Fig. 34.17  A 6-year-old female with Goldenhar syndrome and type 3 left mandibular deformity. She benefited from costochondral rib graft to reconstruct her left
hypoplastic mandible. (A) Photograph, AP view (note left epibulbar dermoid and macrostomia). (B) Photograph, AP view, patient smiling. (C) Photograph left lateral view
(note left microtia). (D) Intra-oral photograph highlighting the malocclusion and cross-bite, AP view. (E) Intra-oral photograph left lateral view. (F) 3D CT scan, face, AP
view. (G) 2D CT scan, mandible, left lateral view. (H) 3D CT scan, face, worm’s eye view. (I) Preoperative stone models, right lateral, AP, left lateral.

795
Treatment/surgical technique
J
K
L
M
Continued
(J) Stone models
demonstrating postoperative endpoint, right lateral,
AP, left lateral. (K) Intraoperative photographs with
the rib construct in place, abutting the base of the
skull. The graft is then trimmed to length to allow
maximal overlap with the mandible and fixated
caudally using two or three 1.5 or 2.0 mm titanium
screws with single-hole plates. These serve as
washers of broad contact area, which limits
splitting and damage of the rib bone.
(L) Immediate postoperative photograph
highlighting the posterior open bite created and
maintained with a splint. (M) Postoperative 3D CT
scan AP and lateral views.
Fig. 34.17, cont’d