Orthognathic Surgery

1241
CHAPTER 30  Syndromes with Craniosynostosis: Evaluation and Treatment
• Figure 30-24  Step 10.
• Figure 30-25  Step 11.
the squamous temporal bone and skull base is
carried out (Fig. 30-24).
Step 11. The orbital roof osteotomy is completed with
the sagittal saw through the anterior skull base
(Fig. 30-25).
Step 12. The orbital roof osteotomy continues laterally
through the sphenoid wing. This osteotomy will
join up with the previous tenon extension on each
side (Fig. 30-26).
Step 13. A thin chisel placed through the anterior skull
base is used to confirm the completion of the
sphenoid wing osteotomy and continuity with the
tenon extension (Fig. 30-27).
Step 14. With a thin chisel and working through the skull
base, the medial orbital wall osteotomy is com­
pleted posterior to the medial canthus and naso­
lacrimal apparatus and inferiorly into the inferior
orbital fissure (Fig. 30-28).
• Figure 30-26  Step 12.
• Figure 30-27  Step 13.
• Figure 30-28  Step 14.

1242 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
• Figure 30-30  A and B, Step 16.
B
A
• Figure 30-31  Step 17.
• Figure 30-29  Step 15.
Step 15. The anterior aspect of the nasal septum is sepa­
rated from the cranial base. A straight 15-mm
wide chisel is placed through the cranial base just
anterior to the crista galli and used to complete
this osteotomy and to further separate the midface
from the base of the skull (Fig. 30-29).
Step 16. The separation of the pterygomaxillary sutures is
completed. A long 10-mm wide chisel is placed
through the coronal incision and the infratempo­
ral fossa to the pterygomaxillary suture. One
double-gloved hand is placed in the patient’s
mouth, and the other hand is used to place the
chisel through the coronal incision and into the
infratemporal fossa (Fig. 30-30, A). A mallet is
then used to separate the pterygomaxillary suture
with the chisel. The success of the separation is
confirmed with the pterygomaxillary spreader
forceps (Fig. 30-30, B).
Step 17. The midface (MB) is disimpacted with the use of
two nasomaxillary forceps that are placed in the
nose and the mouth. Pterygomaxillary spreader
forceps are simultaneously placed through the
coronal incision on each side. The midface is then
disimpacted and stretched forward to confirm
adequate advancement at the occlusal level (Fig.
30-31). Next, the endotracheal airway exchange is
completed (see Fig. 30-16, B). Additional sterile
drapes are placed over the scalp and the face and
neck regions, and the throat pack is removed. The
surgeon places the nasotracheal tube through the
nose and into the oropharynx. The anesthesiolo­
gist then removes the orotracheal tube and com­
pletes the insertion of the nasotracheal tube
through the larynx using the direct or GlideScope
laryngoscopic technique.
Step 18. For FB, a midnasal osteotomy (i.e., an ostectomy)
is completed. Working through the coronal inci­
sion, the surgeon marks out the proposed midna­
sal osteotomy with calipers and a pencil and then
completes it with a sagittal saw. When the
ostectomy is completed, the removal of portions
of the underlying cartilaginous nasal septum is
also accomplished (Fig. 30-32).
Step 19. For FB, separate sterile oral instruments are used
to split the maxilla into two segments. An intra­
oral maxillary vestibular incision is made, and this

1243
CHAPTER 30  Syndromes with Craniosynostosis: Evaluation and Treatment
is followed by the subperiosteal exposure of the
anterior maxilla, the anterior nasal spine, and the
nasal floor (Fig. 30-33, A). With a sagittal saw, a
midline osteotomy is completed between the
central incisors and then parasagittally down the
• Figure 30-32  Step 18.
hard palate; the palatal mucosa is left undisturbed
(Fig. 30-33, B). The segmental separation is com­
pleted with a thin 5-mm wide chisel placed
between the central incisors (Fig. 30-33, C). The
Erich arch bar is also cut between the incisors.
Further separation of the posterior maxilla is com­
pleted with a spreader forceps as needed (Fig.
30-33, D). The oral wound is closed, the intraoral
instruments are discarded, and fresh gloves are put
on the hands.
Step 20. For FB, stabilization of the upper orbits and the
nasal bones is completed next (Fig. 30-34, A, and
B). Repositioning of the facial halves medially
with correction of the midface arc of rotation is
completed; this will require refinement with a
rotary drill (Fig. 30-34, A). The upper orbits and
the nasal bones are fixed with a titanium plate
and screws (Fig. 30-34, B). A rotary drill is also
used to cranialize the frontal sinus, if needed
(Fig. 30-34, C).
Step 21. Midface advancement at the level of the maxillary
dentition is accomplished (Fig. 30-35). Working
through the coronal scalp incision, the primary
• Figure 30-33  A through D, Step 19.
A
C
D
B

1244 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
• Figure 30-34  A, B, and C, Step 20.
A
B
C
• Figure 30-35  Step 21.
surgeon advances the midface. With the use of
separate sterile oral instruments, the assistant to
the surgeon wires the jaws together into the
planned occlusion.
Additional segmental orbital osteotomies are then
completed with a reciprocating saw (Fig. 30-37,
B). The lateral orbital rim and superior orbital rim
segments are further reshaped with a rotary drill
(Fig. 30-37, C). The segments are fixed with tita­
nium plates and screws (Fig. 30-37, D).
Step 24. Stabilization of the midface advancement at the
upper orbital tenon extension is accomplished
NOTE: The patient is rarely placed in an ideal
occlusion. The mid face advancement at the occlusal
level is of secondary importance. The advancement
should be based on the most favorable depth of the
orbits and position of the zygomas.
Step 22. Upper midface advancement is established at the
zygomatic arches (Fig. 30-36). The amount of
advancement at each zygomatic arch is measured
with a caliper. A titanium plate is conformed to
extend from the anterior maxilla across the arch
and surgical gap to the posterior zygoma on each
side. The plate is secured with titanium screws.
Step 23. Additional segmental osteotomies of the orbits are
often required. Occasionally, the lateral superior
orbits have further dysplasia and segmental oste­
otomies with reshaping for reconstruction is nec­
essary (Fig. 30-37, A). If so, the lateral orbital
segments are removed with a reciprocating saw.

1245
CHAPTER 30  Syndromes with Craniosynostosis: Evaluation and Treatment
• Figure 30-36  Step 22.
• Figure 30-37  A through D, Step 23.
C
D
A
B
(Fig. 30-38). The desired advancement is mea­
sured with a caliper; a miniplate is adapted to
bridge the gap between the tenon extension and
the posterior cranial vault. Titanium screws are
used for plate stabilization.
Step 25. Hyperplastic ethmoidal air cells are debrided
as needed in patients with orbital hypertelorism
(Fig. 30-39). With visualization through the ante­
rior cranial base, rongeurs are used to debride
hyperplastic ethmoidal air cells and to reduce
midorbital hypertelorism.
Step 26. The opening between the anterior cranial fossa
and the nasal cavity is managed (Fig. 30-40, A and
B). The surgeon irrigates and suctions the intra­
nasal cavity through the anterior cranial base
exposure. My usual approach is to then apply a

1246 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
• Figure 30-38  Step 24.
• Figure 30-39  Step 25.
• Figure 30-40  A and B, Step 26.
A
B
anterior cranial fossa may be used, depending on
the clinical circumstances (e.g., cranial bone
grafts, soft-tissue flaps).
Step 27. The anterior cranial vault is reshaped, advanced,
and secured in place (Fig. 30-41, A, B, and C).
With the use of a reciprocating saw, osteotomies
of the removed anterior cranial vault are com­
pleted (Fig. 30-41, A). Rotary drill recontouring
is also accomplished to achieve the desired shape
(Fig. 30-41, B). Split- or full-thickness cranial
bone graft is harvested and used as needed to fill
in defects, and fixation is accomplished with
plates and screws. Split-thickness cranial bone
graft is also placed and fixed in the midzygomatic
arch segmental defects (Fig. 30-41, C).
Step 28. Lateral canthopexies are completed (Fig. 30-42).
Two holes are drilled at each new frontozygomatic
suture region. The lateral canthi are identified
with a skin hook through the coronal incision. A
figure-of-eight wire suture is placed through each
lateral canthus through the coronal incision. Each
lateral canthus is fixed by passing the wire through
the drill holes in the frontozygomatic suture.
Step 29. Each temporalis muscle is resecured to bone (Fig.
30-43). The temporalis muscles are repositioned
anteriorly and secured to the lateral orbital rims
and the temporal bones with interrupted sutures.
Step 30. The scalp wound is closed (Fig. 30-44). Suction
drains are placed through the posterior scalp flap;
one is placed on each side. One drain is placed
under the anterior flap, and the other is placed
below the posterior flap. The galea closure is com­
pleted with interrupted sutures, and the skin layer
closure is completed with staples or resorbable
sutures in accordance with surgeon preference.
An overview of the skeletal morphology is shown before
(Fig. 30-45, A) and after (Fig. 30-45, B) Facial Bipartition
(FB) osteotomies and anterior cranial vault reshaping, repo­
sitioning, and stabilization. The locations of the proposed
osteotomies are indicated.
sheet of Gelfoam to separate the opening between
the two cavities (Fig. 30-40, A). I then inject fibrin
glue over the Gelfoam to seal the separation
(Fig. 30-40, B). Other methods of managing the
separation between the nasal cavity and the

1247
CHAPTER 30  Syndromes with Craniosynostosis: Evaluation and Treatment
• Figure 30-41  A, B, and C, Step 27.
A
B
C
• Figure 30-42  Step 28.
• Figure 30-43  Step 29.

1248 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
• Figure 30-44  Step 30.
A2
A1
• Figure 30-45  An overview of the skeletal morphology is shown A, before and B, after facial biparti­
tion osteotomy with repositioning and stabilization.

1249
CHAPTER 30  Syndromes with Craniosynostosis: Evaluation and Treatment
Staging of Reconstruction for
Crouzon Syndrome
Primary Brain Decompression: Cranio–Orbital
Reshaping during Infancy
The initial surgery for a child with a craniosynostosis syn­
drome generally requires cranial suture release, simultane­
ous anterior cranial vault and upper orbital osteotomies,
and reshaping and advancement for brain decompres­
sion.200,203,205,216,274 There continues to be a search for mini­
mally invasive approaches to the surgical decompression of
the brain in the infant with syndromal craniosynostosis; the
goal is to limit morbidity while achieving morphologic cor­
rection or at least improvement. Current minimally invasive
techniques that are under consideration include endoscopic
suture release; spring-mediated cranioplasty; and DO pro­
cedures. These techniques must be compared with the
standard “open” approach of cranio–orbital reshaping
carried out by an experienced craniofacial team; this is
described later in this chapter. In addition, the preferred
timing for brain decompression (i.e., <6 months; 6 to 12
months, >12 months) remains undetermined. Current
studies support the 6- to 12-month time frame for first-
stage brain decompression whenever feasible. Operating at
an earlier age is more likely to result in the need for early
reoperation and may involve increased perioperative risk.
In the infant with Crouzon syndrome who presents with
bicoronal synostosis, my preference is to carry out the
primary cranio–orbital reshaping when the child is 9 to 12
months old unless clear signs of increased intracranial pres­
sure are identified earlier during his or her life.153,200,203,205,216
The standard technique of reshaping of the upper three
quarters of the orbits and the tenon extensions is geared
toward decreasing the bitemporal and anterior cranial base
width while achieving anteroposterior advancement. This
B2
B1
• Figure 30-45, cont’d

1250 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
increases the depth of the anterior cranial base and the
upper orbits with at least some improvement of ocular
proptosis. The anterior cranial vault is then reconstructed
in accordance with the patient’s morphologic needs. The
goals at this stage are to provide increased space in the
anterior fossa for the brain; to increase orbital volume for
better eye protection; and to improve the morphology of
the forehead and the upper orbits. By allowing additional
growth to occur before surgery (i.e., by waiting until the
child is 9 to 12 months old), the reconstructed cranial vault
and the upper orbital shape are better maintained with
less need for repeat craniotomy procedures during early
childhood.
Further Craniotomy for Brain Decompression
during Childhood
After the initial suture release and the reshaping of the
cranio–orbital region during infancy, the child is observed
clinically at set intervals by the craniofacial surgeon, the
pediatric neurosurgeon, the pediatric ophthalmologist,
and the developmental specialist; he or she also undergoes
interval CT scanning. Should signs of increased intracranial
pressure develop, urgent brain decompression via
further cranial vault expansion and reshaping is per­
formed.64,87,137,200,203,205,216 When increased intracranial pres­
sure occurs, the suspected location of brain compression
influences the region of the skull for which further expan­
sion and reshaping is planned. If progressive brain compres­
sion is judged to be anterior, then additional forehead and
upper orbital osteotomies with reshaping for expansion are
carried out. The technique is similar to that described earlier
in this chapter. If the problem is posterior, then expansion
of the occipital region with the patient in the prone position
is required. The repeat craniotomy is often complicated by
brittle irregular cortical bone, which lacks a diploic space
and which may contain sharp spicules that pierce the dura;
by the presence of previously placed fixation hardware in
the operative field; and by convoluted thin dura that is
compressed against or herniated into the inner table of the
skull. This results in a greater potential for dural tears during
the calvarectomy than would normally occur during a
primary procedure.
Management of the Upper Midface Deformity
during Childhood
The approach selected to manage upper midface deficiencies
and anomalies and residual cranial vault dysplasia should
depend on the extent and location of dysmorphol­
ogy.200,203,205 A main objective of this phase of reconstruction
is to normalize the orbits, the zygomas, and the cranial
vault. The correction of the maxillomandibular deformity
will require orthognathic surgery that includes a separate
Le Fort I osteotomy. The selection of either an MB oste­
otomy (with or without additional orbital segmentation),
an FB osteotomy (with or without additional orbital
segmentation), or an extracranial Le Fort III osteotomy to
manage the basic horizontal, transverse, and vertical upper
and midface deficiencies and anomalies will depend on the
original malformation, the previous procedures that have
been carried out, and the effects of ongoing growth. The
final reconstruction of the upper midface deformities in a
patient with Crouzon syndrome can be managed when he
or she is as young as 7 to 10 years old. (See previous sections
in this chapter concerning upper midface reconstruction
options).
Orthognathic Procedures to Achieve Facial
Balance, an Improved Airway, and Definitive
Occlusal Correction
Although the mandible has a normal basic growth potential
in a patient with Crouzon syndrome, the maxilla does not.
An Angle class III malocclusion caused by deficient maxil­
lary growth is to be expected. A segmented Le Fort I oste­
otomy for maxillary horizontal advancement, transverse
widening, and vertical adjustment is generally required in
combination with an osseous genioplasty (vertical reduction
and horizontal advancement) to further correct the lower
face dysmorphology.200,203,205 Secondary deformity of the
mandible is also frequent and requires simultaneous sagittal
ramus osteotomies. If correction of chronic nasal obstruc­
tion is required, then septoplasty, inferior turbinate reduc­
tion, the widening of the pyriform rims, and nasal floor
recontouring are simultaneously completed (see Chapter
10). The definitive orthognathic and intranasal procedures
are carried out in conjunction with orthodontic treatment
that is planned for completion at the time of early skeletal
maturity (i.e., ≈13 to 15 years in girls and ≈14 to 16 years
in boys).
Assessment of Results in the Patient with
Crouzon Syndrome
CT scans have provided the quantitative assessment of
baseline craniofacial abnormalities in patients with Crouzon
syndrome as well as of surgical results after first-stage
cranio–orbital reconstruction.216 The purposes of the
quantitative assessment of the craniofacial complex—
whether by CT scan or by anthropometric, cephalometric,
or model analysis—are to help predict growth patterns, to
confirm or refute clinical impressions, to help with treat­
ment planning, and to provide a framework for the
objective assessment of the immediate and long-term recon­
structive results.
Quantitative Assessment of Presenting Crouzon
Deformity and Surgical Results on the Basis of
Computed Tomography Scan Analysis after
First-Stage Cranio–Orbital Reconstruction
Waitzman and colleagues developed a method of analysis
based on CT scan measurements and that allows for a
quantitative assessment of the upper and midface skeleton

1251
CHAPTER 30  Syndromes with Craniosynostosis: Evaluation and Treatment
over time, 5 of the 13 patients approximated the normal
growth curve, whereas 6 of the 13 patients exceeded it.
According to the findings of the study, for the majority of
children who were born with Crouzon syndrome, the
cranial capacity will exceed the mean early during life
and expand at a rapid rate in conjunction with cranio–
orbital decompression and reconstruction. The biologic
explanation for these unexpected findings remains unclear.
It should be noted that other researchers have studied
the intracranial volume of children who were born with
craniosynostosis.18,20,21,24,60,64,67,73,80,85-87,93,137,140,141,210,246,247
Quantitative Assessment of Presenting Deformity during
the Mixed Dentition in Children with Crouzon Syndrome
and Surgical Results after Monobloc Osteotomy on the
Basis of Computed Tomography Scan Analysis
During their middle childhood years, a group of children
with Crouzon syndrome were assessed via quantitative CT
scan measurements. They were found to have cranial vault
lengths that averaged only 87% of the values of the age-
matched norms. The medial orbital walls were horizontally
short at 87% of normal, whereas the extent of globe protru­
sion was excessive at 134% of age-matched norms. The
zygomatic arch lengths averaged only 84% of normal. These
findings confirmed horizontal anteroposterior deficiency of
the upper face and the midface.
After they underwent MB osteotomies in combination
with anterior cranial vault reshaping and advancement
carried out through an intracranial approach, the children’s
cranio–orbito–zygomatic measurements were re-evaluated.
The mean cranial length that was initially achieved after MB
osteotomy was 98%, and at 1 year it was 92% of the control
value. As compared with age-matched controls, the orbital
measurements reflected improvements in both the midor­
bital hypertelorism (the mid-interorbital width was 97%
initially after operation and 102% at 1 year), and the orbital
proptosis (early after surgery, their values were 86% of the
values for age-matched normal children; they were 92% at
1 year). The medial orbital wall length initially normalized
at 101% and later at 97% of normal values. The zygomatic
arch length initially corrected at 106% and later to 101%
of normal.
Staging of Reconstruction for
Apert Syndrome
Primary Brain Decompression: Cranio–Orbital
Reshaping during Infancy
The initial craniofacial procedure for patients with Apert
syndrome generally includes cranial suture release as well as
simultaneous anterior cranial vault and upper three-quarter
orbital osteotomies, with reshaping and advancement for
brain decompression 202 This author’s preference is to carry
out these procedures when the child is 9 to 12 months old,
unless signs of increased intracranial pressure are identified
earlier during the child’s life. The main goals at this stage
in both the horizontal and transverse planes.272,273 This
method of quantitative CT scan analysis was used to docu­
ment the differences in the cranio–orbito–zygomatic region
between children with Crouzon syndrome who had not yet
undergone reconstruction and age-matched controls.29
Morphologic results that were achieved in those children 1
year after undergoing standard suture release and anterior
cranial vault and upper orbital procedures to reshape these
regions were also evaluated.216
The preoperative CT scan measurements of the children
with untreated Crouzon syndrome confirmed a widened
anterior cranial vault at 108% of normal and a cranial
length that averaged only 92% of normal.29 In comparison
with age-matched controls, orbital measurements revealed
a widened anterior interorbital width at 122% of normal,
an increased intertemporal width at 121% of normal, globe
protrusion at 119% of normal, and a short medial orbital
wall length at only 86% of normal. The distance between
the zygomatic buttresses and the interarch widths were
found to be increased at 106% and 103% of normal, respec­
tively. The zygomatic arch lengths were substantially short­
ened at only 87% of the values of age-matched controls.
These findings confirmed clinical observations of brachyce­
phalic anterior cranial vaults with shallow and frequently
hyperteloric orbits and globe proptosis. In general, the
upper midface in patients with Crouzon syndrome is hori­
zontally retrusive and transversely wide, which is reflected
in wide and shortened zygomas. The same quantitative CT
scan assessment was carried out in the children with Crouzon
syndrome more than 1 year after they underwent anterior
cranial vault and upper orbital osteotomies with reshaping
to compare their values to the new age-matched control
values.216 No significant improvement in the cranio–orbito–
zygomatic measurements was demonstrated.
Quantitative Intracranial Volume Measurements Before
and After Cranio–Orbital Reshaping in Children with
Crouzon Syndrome
In a previous study, the intracranial volumes in children
with Crouzon syndrome before and after standard cranio–
orbital reshaping procedures was documents.209 The intra­
cranial volumes were also compared with those of an
age- and gender-matched cohort, and the rate of cranial
expansion with growth was reviewed. The study included
13 children who presented sequentially with Crouzon syn­
drome and who subsequently underwent a standard first-
stage cranio–orbital reconstruction by the author (Posnick)
in conjunction with a pediatric neurosurgeon. The average
age at the time of operation was 13 months (range, 6 to 46
months). Postoperative clinical follow up ranged from 12
to 60 months at the time of the study’s completion. Of the
children with Crouzon syndrome who were evaluated pre­
operatively, 12 out of 13 had intracranial volume values that
were greater than the mean. When comparing postoperative
volumes with the normative data, all 13 maintained volumes
that were at or greater than the mean. When reviewing the
cranial capacity of each patient with Crouzon syndrome

1252 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
deformed. The extent of maxillary deficiency will result in
an Angle Class III anterior open-bite malocclusion. A seg­
mented Le Fort I osteotomy is required for horizontal
advancement, transverse widening, and vertical adjustment.
This is often in combination with an osseous genioplasty
and sagittal split ramus osteotomies of the mandible. Sep­
toplasty and inferior turbinate reduction are generally
carried out to improve nasal breathing, and the recontour­
ing of the nasal floor and the pyriform rims is also required
(see Chapter 10). The definitive orthognathic and intranasal
surgery is carried out in conjunction with orthodontic
treatment and planned for completion at the time of early
skeletal maturity (i.e., ≈13 to 15 years of age).202
Assessment of Results in the Patient with
Apert Syndrome
Quantitative Assessment of Presenting Apert Deformity
and Surgical Results on the Basis of Computed
Tomography Scan Analysis after First-Stage
Cranio–Orbital Reconstruction
In a previously published study, a method of quantitative
CT scan analysis was applied to document the differences
in the cranio–orbito–zygomatic region between children
with Apert syndrome who had not been operated on and
age-matched controls.29 Eight consecutive infants and
young children with Apert syndrome who underwent a
standard cranio–orbital procedure by a single craniofacial
surgeon (Posnick) in conjunction with one of three pediat­
ric neurosurgeons over a 4-year period were reviewed 1
year after surgery.217 The series included seven girls and one
boy, with an average age at surgery of 12 months (range, 9
to 23 months). The average postoperative follow-up period
was 34 months (range, 12 to 48 months) at the close of the
study. Preoperative and postoperative (>1 year) CT scans
were compared with those of age-matched controls, and
percentages of normal were then compared for significant
differences. Two of the children had clear evidence of
hydrocephalus and required ventriculoperitoneal shunting
before the cranio–orbital reconstruction at 3 and 5 months
of age. A third child had mildly increased ventricular size,
but clinical correlation did not suggest the need for
shunting.
Significant preoperative morphologic findings included
a wide anterior cranial vault at 110% of normal, a maximum
cranial length that averaged only 90% of normal, a substan­
tially widened anterior interorbital width at 117% of
normal, an increased lateral interorbital distance at 112%
of normal, and a widened bitemporal width at 122% of
normal.217 Globe protrusion was significant at 121%
of normal, and the medial orbital wall length was less than
normal at 92%. In the upper midface zygomatic region,
both the width between the zygomatic buttresses and the
interarch width were found to be increased at 109% of
normal, whereas the zygomatic arch lengths were substan­
tially shortened at 79% of normal. The measurements con­
firmed the clinical observations of brachycephalic and
are to decompress the brain by providing increased space in
the anterior cranial vault and to increase the orbital volume
for improved eye protection. The fronto–orbital surgical
technique is similar to that described for Crouzon syndrome
(see the section about Crouzon syndrome earlier in this
chapter).
Further Craniotomy for Brain Decompression
during Childhood
As described previously for Crouzon syndrome, the initial
suture release, brain decompression, and cranio–orbital
reshaping are carried out during infancy (i.e., 9 to 12
months of age).202 The child is observed clinically at inter­
vals by the craniofacial surgeon, the pediatric neurosurgeon,
the pediatric ophthalmologist, and the developmental pedi­
atrician, and interval CT scanning is also performed. Should
signs of increased intracranial pressure develop, further
brain decompression with reshaping of the cranial vault to
expand the intracranial volume is performed. In patients
with Apert syndrome, the posterior cranial vault more com­
monly requires expansion at this stage. The technique is
similar to what has been previously described (see the
section about Crouzon syndrome earlier in this chapter).
Management of the Upper Midface Deformity
during Childhood
For almost all patients with Apert syndrome, facial biparti­
tion osteotomies in combination with further cranial vault
reshaping allow for a better correction of the dysmorphol­
ogy than can be achieved through any other upper midface
procedure (i.e., MB or Le Fort III).202 When using FB
osteotomies, the correction of the concave midface arc of
rotation is also possible. This further reduces the stigmata
of the “flat, wide, and retrusive” facial appearance associated
with Apert syndrome. The FB allows the orbits and the
zygomas as units to shift to the midline (i.e., correction of
hypertelorism) while the maxillary arch is simultaneously
widened (i.e., relief of the V-shaped upper midface). Hori­
zontal advancement of the reassembled upper midface
complex is then possible to improve orbital depth and
zygomatic length. The forehead is generally flat, tall, and
retruded, with a constricting band just above the supraor­
bital ridge. The reshaping of the anterior cranial vault is also
simultaneously carried out. A Le Fort III osteotomy is virtu­
ally never adequate for an ideal correction of the residual
upper midface anomalies documented among patients with
Apert syndrome (see earlier section in this chapter concern­
ing upper midface reconstruction options).
Orthognathic Procedures to Achieve Facial
Balance, an Improved Airway, and Definitive
Occlusal Correction
The mandible has normal basic growth potential in patients
with Apert syndrome, but it is generally secondarily

1253
CHAPTER 30  Syndromes with Craniosynostosis: Evaluation and Treatment
a normal child but with a starting point determined by their
preoperative values.
The findings confirmed that untreated patients with
Apert syndrome are generally macrocephalic early during
their lives, that standard cranio–orbital procedures carried
out during childhood do not alter this trend, and that con­
tinued cranial volume expansion often exceeds the mean.
The ability to develop “normal” intracranial volume stan­
dards and to identify variations from normal in specific
syndromes and in individual patients before and after surgery
continues to be elusive.18,20,21,24,60,73,80,85,86,93,96,140,141,210,246,247
Quantitative Assessment of Presenting Deformity during
the Mixed Dentition in Children with Apert Syndrome and
Surgical Results after Facial Bipartition Osteotomy on the
Basis of Computed Tomography Scan Analysis
In published studies, children with Apert syndrome were
assessed during their middle childhood years with the use
of quantitative CT scan measurements.220 Many of these
children’s measurements varied from normal as compared
with those of age-matched controls. The orbital measure­
ments showed a substantially increased anterior interor­
bital width (123% of normal), an increased mid-interorbital
width (122% of normal), and an increased intertemporal
width (126% of normal). The globe protrusion beyond the
sagittal plane of the lateral orbital walls was excessive (142%
of normal). There was also a short medial orbital wall length
(85% of normal). The width between the lateral orbital
walls was excessive at 111% of normal. Zygomatic arch
lengths were substantially shortened at 83% of normal.
After undergoing FB osteotomies with three-dimensional
repositioning in combination with cranial vault reshaping,
CT scan measurements were again taken both early after
the operation and 1 year later.220 An analysis of the measure­
ments showed an improvement toward the normal range.
As compared with the values of age-matched controls, the
orbital measurements reflected the correction of the hyper­
telorism; the anterior interorbital width early after opera­
tion was 106% of normal and later 105% of normal. The
mid-interorbital width initially improved to 106% of
normal and later to 100% of normal. The width between
the lateral orbital walls stabilized at 108% of normal, and
the intertemporal width was 115% of normal, which was
an improvement over the preoperative value of 126% of
normal. The zygomatic arch length was initially overcor­
rected at 110% of normal and then stabilized at 103% of
normal.
Further studies were carried out to evaluate the presence
of extradural (retrofrontal) dead space after the FB osteot­
omy to reconstruct the upper midface deformity associated
with Apert syndrome.208 Seven patients with Apert syn­
drome (mean age, 8 years) underwent FB osteotomies with
advancement. Extradural (retrofrontal) dead space was mea­
sured from a reproducible axial CT scan slice for each
patient at standard postoperative intervals (1 to 2 weeks, 6
to 8 weeks, and 1 year). An initial extradural (retrofrontal)
dead space was identified early after surgery in each patient.
hyperteloric anterior cranial vaults, orbits, and zygomas
accompanied by globe proptosis and midface deficiency.
Results of surgical reconstruction as documented by CT
scan measurements demonstrated that, at more than 1 year
after surgery, none of the craniofacial measurements had
significantly improved (P < .05) as compared with those of
the new age-matched controls.
Quantitative CT scan measurements of the cranio–
orbito–zygomatic region confirmed the clinical findings in
the unoperated children to be brachycephalic anterior
cranial vaults and upper face hypertelorism of the orbits and
the zygomas,) with ocular proptosis and a flat midface.217 It
was found that cranial vault and upper orbital reshaping
before 1 year of age does not achieve or maintain a corrected
shape in the craniofacial skeleton in children with Apert
syndrome. Although the cranio–orbito–zygomatic dysmor­
phology did not worsen when analyzed at least 1 year after
surgery, values remained far from those of the new age-
matched controls, thereby confirming the need for a staged
reconstructive approach.
Quantitative Intracranial Volume Measurements Before
and After Cranio–Orbital Reshaping in Children with
Apert Syndrome
In published studies, a proven method for obtaining intra­
cranial volumes with the use of CT scan measurement was
applied to a consecutive series of children with Apert syn­
drome before any craniofacial procedures were performed.209
A standard cranio–orbital operation was performed for each
child, and this was followed by longitudinal follow up and
the remeasurement of the intracranial volume at least 1 year
later. The patients’ intracranial volumes were also compared
with those of an age-matched cohort, and each patient’s
cranial growth velocity was reviewed. The study included
six girls and two boys with an average age at operation of
12 months (range, 9 to 23 months). The average postopera­
tive follow-up duration at the close of the study was 34
months (range, 12 to 48 months).209
Preoperative intracranial volume in the patients with
Apert syndrome ranged from 393 mL in a 2-month-old girl
to 1715 mL in a 28-month-old girl.209 A comparison of the
preoperative intracranial volume in patients with Apert syn­
drome with those of the age- and gender-matched cohort
group showed that six of the eight patients had values of at
least two standard deviations above the mean. Interestingly,
the other two were infants who underwent ventriculoperi­
toneal shunting for hydrocephalus earlier in life. Their mea­
sured preoperative intracranial volumes were two standard
deviations below the mean. When the patients’ postopera­
tive intracranial volumes were compared with those of the
cohort group, all eight achieved values of at least two stan­
dard deviations above the mean. The majority of the mea­
sured preoperative and postoperative intracranial volume
values of the patients with Apert syndrome followed a
growth curve that greatly exceeded the rate expected for
normal children. In three of the patients, cranial vault
growth velocity seemed to match closely that expected for

1254 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
reconstruction to coincide with craniofacial growth pat­
terns, visceral function (e.g., cognitive, vision, breathing,
swallowing, speech, chewing, hearing), and psychosocial
needs. The recognition of the advantages of a staged
approach to reconstruction serves to clarify the objectives
of each phase of treatment for the surgeons, the craniofacial
team, and the family. By continuing to define a rationale
for the timing, techniques, and extent of intervention and
then objectively evaluating both head and neck function
and morphologic (aesthetic) outcomes, the quality of life
for children who are born with craniosynostosis syndromes
will improve.
There was good resolution of the dead space by the 6- to
8-week postoperative interval through expansion of the
dura and the frontal lobes of the brain. The dead space was
confirmed to be closed in all patients at the 1-year postop­
erative interval. The morbidity of the same consecutive
series of patients was then reviewed. For the seven children,
there were no deaths, cardiopulmonary sequelae, injuries to
the brain or eyes, new seizure activity, or central nervous
system problems.
Conclusions
The preferred approach to the management of the indi­
vidual with a craniosynostosis syndrome is to stage
References
1. Ades LC, Mulley JC, Senga IP, et al:
Jackson-Weiss syndrome: Clinical and
radiological findings in a large kindred and
exclusion of the gene from 7p21 and 5qter.
Am J Med Genet 51:121, 1994.
2. Al-Saleh A, Riekstins A, Forrest CR, et al:
Sleep-related disordered breathing in children
with syndromic craniosynostosis. J
Craniomaxillofac Surg 39:153–157, 2011.
3. Ahmad F, Cobb AR, Mills C, et al:
Frontofacial monoblock distraction in the
very young: A review of 12 consecutive cases.
Plast Reconstr Surg 129:488E, 2012.
4. Anderson PJ, Hall CM, Evans RD, et al:
The cervical spine in Saethre–Chotzen
syndrome. Cleft Palate Craniofac J 34:79,
1997.
5. Anderson PJ, Netherway DJ, Cox TC, et al:
Do craniosynostosis syndrome phenotypes
with both FGFR2 and TWIST mutations
have a worse clinical outcome? J Craniofac
Surg 17:166, 2006.
6. Anderson PM, Geiger I: Craniosynostosis: A
survey of 204 cases. J Neurosurg 22:229,
1956.
7. Apert E: De l’acrocephalosyndactlie. Bull
Mem Soc Med Hop Paris 23:1310, 1906.
8. Arnaud E, Marchac D, Renier D: Reduction
of morbidity of the frontofacial monobloc
advancement in children by the use of
internal distraction. Plast Reconstr Surg
120:1009–1026, 2007.
9. Atkins FRB: Hereditary craniofacial
dysostosis or Crouzon disease. Med Press Circ
195:118, 1937.
10. Bachmayer DI, Ross RB: Stability of Le
Fort III advancement surgery in children
with Crouzon, Apert, and Pfeiffer
syndromes. Cleft Palate J 23(Suppl 1):
69–74, 1986.
11. Bachmayer DI, Ross RB, Munro IR:
Maxillary growth following Le Fort III
advancement surgery in Crouzon, Apert, and
Pfeiffer syndromes. Am J Orthod Dentofacial
Orthop 90:420–430, 1986.
12. Baldwin JL: Dysostosis craniofacialis of
Crouzon: A summary of recent literature and
case reports with involvement of the ear.
Laryngoscope 78:1660, 1968.
13. Barr M, Jr, Kreiborg S: The cervical spine in
the Apert syndrome. Am J Med Genet
43:704, 1992.
14. Bernard JP, Levaillant JM: Prenatal diagnosis
of craniosynostosis. Neurochirurgie 52:246,
2006.
15. Berrada A: Erode sur les craniostenoses en
milieum marocain: A propos de 87
observations (these medicale), Paris,
1963-1964.
16. Bertelsen TI: The premature synostosis of the
cranial sutures. Acta Ophthalmol
51(Suppl):87, 1958.
17. Bigot C: L’acrocephalo-syndactylie (these
pour le doctorat en medicine). Paris, Faculte
de Medicine 1922.
18. Blinkov SM, Glezer II, Haigh B: The human
brain: A quantitative handbook, New York,
1968, Basic Books.
19. Bradley JP, Gabbay JS: Monobloc
advancement by distraction osteogenesis
decreases morbidity and relapse. Plast
Reconstr Surg 118:1585, 2006.
20. Bray PF, Shields WD, Wolcott GJ, et al:
Occipitofrontal head circumference: An
accurate measure of intracranial volume.
J Pediatr 75:303, 1969.
21. Breiman RS, Beck JW, Korobkin M, et al:
Volume determinations using computed
tomography. Am J Roentgenol 138:329, 1982.
22. Broder HL: Psychological research of
children with craniofacial anomalies: Review,
critique and implications for the future. Cleft
Palate Craniofac J 34:402, 1997.
23. Bu BH, Kaban LB, Vargervik K: Effect of Le
Fort III osteotomy on mandibular growth in
patients with Crouzon and Apert syndrome.
J Oral Maxillofac Surg 47:666, 1989.
24. Buda FB, Reed JC, Rabe EF: Skull volume
in infants. Am J Dis Child 129:1171,
1975.
25. Camfield PR, Camfield CS, Cohen M Jr:
Neurologic aspects of craniosynostosis. In
Cohen MM, Jr, MacLean RE, editors:
Craniosynostosis: Diagnosis, evaluation and
management, ed 2, New York, 2000, Oxford
University Press, 14, pp 177–183.
26. Campbell JW, Albright AL, Losken HW,
et al: Intracranial hypertension after cranial
vault decompression for craniosynostosis.
Pediatr Neurosurg 22:270, 1995.
27. Carinci F, Pezzetti F, Locci P, et al: Apert and
Crouzon syndromes: Clinical findings, genes
and extracellular matrix. J Craniofac Surg
16:361, 2005.
28. Carpenter G: Two sisters showing
malformations of the skull and other
congenital abnormalities. Rep Soc Study Dis
Child (London) 1:110, 1901.
29. Carr M, Posnick JC, Pron G, Armstrong D:
Cranio-orbito-zygomatic measurements from
standard CT scans in unoperated Crouzon
and Apert infants: Comparison with normal
controls. Cleft Palate Craniofac J 29(2):129–
136, 1992.
30. Chen CP, Lin SP, Su YN, et al: A cloverleaf
skull associated with Crouzon syndrome.
Arch Dis Child Fetal Neonatal Ed 91:98,
2006.
31. Chen P, Por Y, Liou EJ, Chang FC:
Maxillary distraction osteogenesis in the
adolescent cleft patient: Three-dimensional
computed tomography analysis of linear and
volumetric changes over five years. Cleft
Palate Craniofac J 40:445–454, 2011.
32. Chin M, Toth BA: Le Fort III advancement
with gradual distraction using internal
devices. Plast Reconstr Surg 100:819,
1997.
33. Chotzen F: Eine eigenartige familiare
entwicklungsstorung.
(Akrocephalosyndaktylie, dystosis
craniofacialis und hypertelorismus).
Monatschr Kinderheilkd 55:97, 1932.
34. Chumas PD, Cinalli G, Arnaud E, et al:
Classification of previously unclassified cases
of craniosynostosis. J Neurosurg 86:197–181,
1997.
35. Clinical practice guideline: Diagnosis and
management of childhood obstructive sleep
apnea syndrome. Pediatrics 109:704–712,
2002.

1255
CHAPTER 30  Syndromes with Craniosynostosis: Evaluation and Treatment
36. Coccaro PJ, McCarthy JG, Epstein FJ, et al:
Early and late surgery in craniofacial
dysostosis: A longitudinal cephalometric
study. Am J Orthod 77:421–436, 1980.
37. Cohen MM, Jr: Perspectives on
craniosynostosis. West J Med 132:508, 1980.
38. Cohen MM, Jr: Let’s call it
“Crouzonodermoskeletal syndrome” so we
won’t be prisoners of our own conventional
terminology. Am J Med Genet 84:74,
1999.
39. Cohen MM, Jr: Carpenter syndrome. In
Cohen MM, Jr, MacLean RE, editors:
Craniosynostosis: diagnosis, evaluation and
management, ed 2, New York, 2000, Oxford
University Press, 29, pp 377–379.
40. Cohen MM, Jr: Saethre-Chotzen syndrome.
In Cohen MM, Jr, MacLean RE, editors:
Craniosynostosis: Diagnosis, evaluation and
management, ed 2, New York, 2000, Oxford
University Press, 28, pp 374–376.
41. Cohen MM, Jr: Jackson-Weiss syndrome.
Am J Med Genet 100:325–329, 2001.
42. Cohen MM, Jr: FGFs/FGFRs and associated
disorders. In Epstein CJ, Erickson RP,
Wynshaw-Boris A, editors: Inborn errors of
development, New York, 2004, Oxford
University Press, Ch 33, pp 380–400.
43. Cohen MM, Jr: Invited comment:
Perspectives on craniosynostosis. Am J Med
Genet 136A:313–326, 2005.
44. Cohen MM, Jr: Craniofacial abnormalities.
In Gilbert-Barness E, editor: Potter’s
pathology of the fetus, infant, and child, vol I,
ed 2, Philadelphia, 2007, Mosby/Elsevier,
20, pp 885–918.
45. Cohen MM, Jr: Cloverleaf skull: Etiologic
heterogeneity and pathogenetic variability.
J Craniofac Surg 20(Suppl):652–656, 2009.
46. Cohen MM, Jr: Apert, Crouzon, and Pfeiffer
syndromes. Monographs in human genetics,
In Muenke M, Kress W, Collmann H,
Solomon BD, editors: Craniosynostosis:
Molecular genetics, diagnosis, and treatment.
19:67–88, 2011.
47. Cohen MM, Jr: No man’s craniosynostosis:
The arcane of sutural knowledge. J Craniofac
Surg 23:338–348, 2012.
48. Cohen MM, Jr, MacLean RE:
Craniosynostosis: Diagnosis, evaluation and
management, ed 2, New York, 2000, Oxford
University Press.
49. Connolly JP, Gruss J, Seto ML, et al:
Progressive postnatal craniosynostosis and
increased intracranial pressure. Plast Reconstr
Surg 113:1313,2004.
50. Correa Normando AD, da Silva Filho OG,
Capelozza Filho L: Influence of surgery on
maxillary growth in cleft lip and/or palate
patients. J Craniomaxillofac Surg 20:111,
1992.
51. Crouzon O: Une nouvelle famille atteinte de
dysostose craniofaciale hereditaire. Arch Med
Enfant 18:540, 1915.
52. Crouzon O: Sur la dysostose cranio-faciale
hereditaire et sur les rapports avec
l’acrocephalosyndactylie. Bull Mem Soc Med
Hop Paris 48:1568, 1932.
53. Crouzon O: Les dysostose prechordales. Bull
Acad Med 115:696, 1936.
54. Cruveiller J: La Maladie d’Apert-Crouzon
(these medicale). Paris 1954.
55. Cushing H: Neurosurgery. In Keen WW,
editor: Surgery: Its principles and practice,
Philadelphia, 1908, WB Saunders,
p 254.
56. David DJ, Cooter RD: Craniofacial
infections in 10 years of transcranial surgery.
Plast Reconstr Surg 80:213, 1987.
57. David DJ, Sheen R: Surgical correction of
Crouzon syndrome. Plast Reconstr Surg
85:344, 1990.
58. David LR, Velotta E, Weaver RG, Jr, et al:
Clinical findings precede objective diagnostic
testing in the identification of increased ICP
in syndromic craniosynostosis. J Craniofac
Surg 13:676, 2002.
59. DeGunten P: Contribution a l’etude des
malformations de la face et des maxillaires
dans la dysostose craniofaciale. Ann
Otolaryngol 57:1056, 1938.
60. Dekaban AS: Tables of cranial and orbital
measurements, cranial volume and derived
indexes in males and females from 7 days to
20 years of age. Ann Neurol 2:485, 1977.
61. Devine P, Bhan I, Feingold M, et al:
Completely cartilaginous trachea in a child
with Crouzon syndrome. Am J Dis Child
138:40, 1984.
62. Dickerman RD, Lefkowitz M, Arinsburg SA,
Schneider SJ: Chiari malformation and
odontoid panus causing craniovertebral
stenosis in a child with Crouzon syndrome.
J Clin Neurosci 12:963, 2005.
63. Diner PA: Le Fort III advancement with
gradual distraction using internal devices
[discussion]. Plast Reconstr Surg 100:831,
1997.
64. Disler DG, Marr DS, Rosenthal DI:
Accuracy of volume measurements of
computed tomography and magnetic
resonance imaging phantoms by three-
dimensional reconstruction and preliminary
clinical application. Invest Radiol 29:739,
1994.
65. Farkas LG, Posnick JC: Growth and
development of regional units in the head
and face based on anthropometric
measurements. Cleft Palate Craniofac J
29:301–302, 1992.
66. Farkas LG, Posnick JC, Hreczko T:
Anthropometric growth study of the head.
Cleft Palate Craniofac J 29:303–307, 1992.
67. Farkas LG, Posnick JC, Hreczko T: Growth
patterns in the orbital region: A
morphometric study. Cleft Palate Craniofac J
29:315–317, 1992.
68. Farkas LG, Posnick JC, Hreczko T: Growth
patterns of the face: a morphometric study.
Cleft Palate Craniofac J 29:308–314, 1992.
69. Fearon JA: The Le Fort III osteotomy: To
distract or not to distract? Plast Reconstr Surg
107:1091–1103, discussion 1104-1096,
2001.
70. Fearon JA: Halo distraction of the Le Fort
III in syndromic craniosynostosis: A
long-term assessment. Plast Reconstr Surg
115:1524, 2005.
71. Fearon JA, Whitaker LA: Complications
with facial advancement: A comparison
between the Le Fort III and monobloc
advancements. Plast Reconstr Surg 91:990,
1993.
72. Fearon JA, Yu J, Bartlett SP, et al: Infections
in craniofacial surgery: A combined report of
567 procedures from two centers. Plast
Reconstr Surg 100:862, 1997.
73. Fernandez F, Moule N, Singhi S:
Roentgenographic skull volume in Jamaican
children between the ages of 1 month and 5
years. West Indian Med J 33:227, 1984.
74. Ferreira JC, Carter SM: Second-trimester
molecular prenatal diagnosis of sporadic
Apert syndrome following suspicious
ultrasound findings. Ultrasound Obstet
Gynecol 14:426, 1999.
75. Figueroa AA, Polley JW, Friede H, et al:
Long-term skeletal stability after maxillary
advancement with distraction osteogenesis
using a rigid external distraction device in
cleft maxillary deformities. Plast Reconstr
Surg 114:1382, 2004.
76. Figueroa AA, Polley JW, Ko EW: Maxillary
distraction for the management of cleft
maxillary hypoplasia with a rigid external
distraction system. Semin Orthod 5:46,
1999.
77. Fishman MA, Hogan GR, Dodge PR: The
concurrence of hydrocephalus and
craniosynostosis. J Neurosurg 34:621,
1971.
78. Flippen JH, Jr: Craniofacial dysostosis of
Crouzon: Report of a case in which the
malformation occurred in four generations.
Pediatrics 5:90, 1950.
79. Flores RL, Shetye PR, Zeitler D, et al:
Airway changes following Le Fort III
distraction osteogenesis for syndromic
craniosynostosis: A clinical and
cephalometric study. Plast Reconstr Surg
124:590–601, 2009.
80. Fok H, Jones BM, Gault DG, et al:
Relationship between intracranial pressure
and intracranial volume in craniosynostosis.
Br J Plast Surg 45:394, 1992.
81. Freitas EC, Nascimento SR, de Mello MP,
Gil-da-Silva-Lopes VL: Q289P mutation in
FGFR2 gene causes Saethre-Chotzen
syndrome: some considerations about
familial heterogeneity. Cleft Palate Craniofac J
43:142, 2006.
82. Fujisawa H, Hasegawa M, Kida S, Yamashita
J: A novel fibroblast growth factor receptor 2
mutation in Crouzon syndrome associated
with Chiari type I malformation and
syringomyelia. J Neurosurg 97:396, 2002.
83. Funato N, Nohtomi-Ohyama J, Ohyama K:
Monozygotic twins concordant for Crouzon
syndrome. Am J Med Genet A 133:225,
2005.
84. Garcin M, Thurel R, Rudeaux P: Sur en cas
asole de dysostose craniofaciale (maladie de
Crouzon) avec extradactylie. Bull Soc Med
Hop 56:1458, 1932.

1256 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
85. Gault DT, Brunelle F, Renier D, et al: The
calculation of intracranial volume using CT
scans. Childs Nerv Sys 4:271, 1988.
86. Gault DT, Renier D, Marchac D, et al:
Intracranial volume in children with
craniosynostosis. J Craniofac Surg 1:1,
1990.
87. Gault DT, Renier D, Marchac D, Jones BM:
Intracranial pressure and intracranial volume
in children with craniosynostosis. Plast
Reconstr Surg 90:230–271, 1992.
88. Genest P, Mortezai MA, Tremblay M: Le
syndrome d’Apert (acrocephalosyndactyly).
Arch Fr Pediatr 23:887, 1966.
89. Gillies HD, Harrison SH: Operative
correction by osteotomy of recessed malar
maxillary compound in case of oxycephaly.
Br J Plast Surg 3:123, 1950.
90. Golabi M, Chierici G, Ousterhout DK,
et al: Radiographic abnormalities of Crouzon
syndrome: A survey of 23 cases. Proc
Greenwood Genet Center 3:102, 1984.
91. Golabi M, Edwards MSB, Ousterhout DK:
Craniosynostosis and hydrocephalus.
Neurosurgery 21:63, 1987.
92. Goldberg S, Shatz A, Picard E, et al:
Endoscopic findings in children with
obstructive sleep apnea: Effects of age and
hypotonia. Pediatr Pulmonol 40:205–210,
2005.
93. Gordon IRS: Measurement of cranial
capacity in children. Br J Radiol 39:377,
1966.
94. Gorlin RJ, Cohen MM, Jr, Levin LS:
Syndromes of the head and neck, ed 3,
New York, 1990, Oxford University Press,
pp 524-525.
95. Gorry MC, Preston RA, White GJ, et al:
Crouzon syndrome: Mutations in two splice
forms of FGFR2 and a common point
mutation shared with Jackson-Weiss
syndrome. Hum Mol Genet 4:1387, 1995.
96. Gosain AK, McCarthy JG, Glatt P, et al: A
study of intracranial volume in Apert
syndrome. Plast Reconstr Surg 95:284, 1995.
97. Gosain AK, Santoro TD, Havlik RJ, et al:
Midface distraction following Le Fort III and
monobloc osteotomies: Problems and
solutions. Plast Reconstr Surg 109:1797,
2002.
98. Gray TL, Casey T, Selva D, et al:
Ophthalmic sequelae of Crouzon syndrome.
Ophthalmology 112:1129, 2005.
99. Green SM: Pathological anatomy of the
hands in Apert syndrome. J Hand Surg
7:450, 1982.
100. Grenet H, Leveuf J, Issac G: Etude
anatomique de la maladie de Crouzon. Bull
Soc Pediatr 32:343, 1934.
101. Gulleminault C, Lee JH, Chan A: Pediatric
obstructive sleep apnea syndrome. Arch
Pediatr Adolesc Med 159:775–785, 2005.
102. Harada K, Baba Y, Ohyama K, et al:
Maxillary distraction osteogenesis for cleft lip
and palate children using an external,
adjustable, rigid distraction device: A report
of 2 cases. J Oral Maxillofac Surg 59:1492,
2001.
103. Harada K, Sato M, Omura K: Long-term
maxillomandibular skeletal and dental
changes in children with cleft lip and palate
after maxillary distraction. Oral Surg Oral
Med Oral Pathol Oral Radiol Endod 102:292,
2006.
104. Harris V, Beligere N, Pruzansky S:
Progressive generalized bony dysplasia in
Apert syndrome. Birth Defects 14:175,
1977.
105. Hoeve HL, Joosten KF, van den Berg S:
Management of obstructive sleep apnea
syndrome in children with craniofacial
malformation. Int J Pediatr Otorhinolaryngol
49(Suppl 1):S59–S61, 1999.
106. Hoeve HL, Pijpers M, Joosten KF: OSAS in
craniofacial syndromes: An unresolved
problem. Int J Pediatr Otorhinolaryngol
67(Suppl 1):111–113, 2003.
107. Hoffman HJ, Mohr G: Lateral canthal
advancement of the supraorbital margin: A
new corrective technique in the treatment of
coronal synostosis. J Neurosurg 45:376,
1976.
108. Hogan GR, Bauman ML: Hydrocephalus in
Apert syndrome. J Pediatr 79:782, 1971.
109. Hogeman KE, Willmar K: On Le Fort III
osteotomy for Crouzon disease in children:
Report of a four-year follow-up in one
patient. Scand J Plast Reconstr Surg
8:169–172, 1974.
110. Hollier L, Kelly P, Babigumira E, et al:
Minimally invasive Le Fort III distraction.
J Craniofac Surg 13:44, 2002.
111. Hopper RA: Frontofacial monobloc
distraction in the very young: A review of 12
consecutive cases. Plast Reconstr Surg
129(3):498e–501e, 2012.
112. Huang CS, Harikrishnan P, Liao YF, et al:
Long-term follow-up after maxillary
distraction osteogenesis in growing children
with cleft lip and palate. Cleft Palate
Craniofac J 44:274, 2007.
113. Iannetti G, Fadda T, Agrillo A, et al: Le Fort
III advancement with and without
osteogenesis distraction. J Craniofac Surg
17:536–543, 2006.
114. Ishii K, Kaloust S, Ousterhout DK,
Vargervik K: Airway changes after Le Fort
III osteotomy in craniosynostosis syndromes.
J Craniofac Surg 7:363–370, discussion 371,
1996.
115. Ito S, Sekido K, Kanno H, et al: Phenotypic
diversity in patients with craniosynostoses
unrelated to Apert syndrome: The role of
fibroblast growth factor receptor gene
mutations. J Neurosurg 102(1 Suppl):23,
2006.
116. Jabs EW, Li X, Scott AF, et al: Jackson-Weiss
and Crouzon syndromes are allelic with
mutations in fibroblast growth factor
receptor 2. Nat Genet 8:275–279, 1994.
117. Jensen JN, McCarthy JG, Grayson BH,
et al: Bone deposition/generation with Le
Fort III (midface) distraction. Plast Reconstr
Surg 119:298–307, 2007.
118. Juberg RC, Chambers SR: An autosomal
recessive form of craniofacial dysostosis (the
Crouzon syndrome). J Med Genet 10:89,
1973.
119. Kaban LB, Conover M, Mulliken J: Midface
position after Le Fort III advancement: A
long-term follow-up study. Cleft Palate J
23(Suppl):75–77, 1986.
120. Kaban LB, West B, Conover M, et al:
Midface position after Le Fort III
advancement. Plast Reconstr Surg 73:758–
767, 1984.
121. Kaloust S, Ishii K, Vargervik K: Dental
development in Apert syndrome. Cleft Palate
Craniofac J 34:117, 1997.
122. Kapp-Simon KA, Figueroa A, Jocher CA,
et al: Longitudinal assessment of mental
development in infants with nonsyndromic
craniosynostosis with and without cranial
release and reconstruction. Plast Reconstr Surg
92:831, 1993.
123. Kasser J, Upton J: The shoulder, elbow, and
forearm in Apert syndrome. Clin Plast Surg
18:381, 1991.
124. Khong JJ, Anderson P, Gray TL, et al:
Ophthalmic findings in Apert syndrome
prior to craniofacial surgery. Am J
Ophthalmol 142:328, 2006.
125. Kirkpatrick WN, Koshy CE, Waterhouse N,
et al: Pediatric transcranial surgery: A review
of 114 consecutive procedures. Br J Plast
Surg 55:561, 2002.
126. Kolar JC, Munro IR, Farkas LG: Patterns of
dysmorphology in Crouzon syndrome: An
anthropometric study. Cleft Palate J
25:235–244, 1988.
127. Kreiborg S: Crouzon syndrome: A clinical
and roentgencephalometric study. Scand J
Plast Reconstr Surg 18(Suppl):1, 1981.
128. Kreiborg S, Barr M, Jr, Cohen M Jr:
Cervical spine in the Apert syndrome. Am J
Med Genet 43:704, 1992.
129. Kreiborg S, Cohen MM, Jr: The infant
Apert skull. Neurosurg Clin North Am
2:551–554, 1991.
130. Kreiborg S, Cohen MM, Jr: The oral
manifestations of the Apert syndrome.
J Craniofac Genet Dev Biol 12:41, 1992.
131. Kreiborg S, Marsh JL, Cohen MM, Jr, et al:
Comparative three-dimensional analysis of
CT scans of the calvaria and cranial base in
Apert and Crouzon syndromes. J
Craniomaxillofac Surg 21:181–188, 1993.
132. Kreiborg S, Prydsoe U, Dahl E, Fogh-
Anderson P: Calvarium and cranial base in
Apert syndrome: An autopsy report. Cleft
Palate J 13:296–303, 1976.
133. Lane LC: Pioneer craniectomy for relief of
mental imbecility due to premature sutural
closure and microcephalus. JAMA 18:49,
1892.
134. Lannelongue M: De la craniectomie dans la
microcephalie. Compte Rendu Acad Sci
110:1382, 1890.
135. Lauritzen C, Lilja J, Jarlstedt J: Airway
obstruction and sleep apnea in children with
craniofacial anomalies. Plast Reconstr Surg
77:1–6, 1986.
136. Lee Y, Kim WJ: How to make the blockage
between the nasal cavity and intracranial

1257
CHAPTER 30  Syndromes with Craniosynostosis: Evaluation and Treatment
space using a four-layer sealing technique.
Plast Reconstr Surg 117:233, 2006.
137. Lichtenberg R: Radiographic du crane de
226 enfants normaux de la naissance a 8 ans:
Impressions digitformes, capacite: Angles et
indices (thesis), Paris, 1960, University of
Paris.
138. Lo LJ, Chen YR: Airway obstruction in
severe syndromic craniosynostosis. Ann Plast
Surg 43:258–264, 1999.
139. Lo LJ, Marsh JL, Yoon J, et al: Stability of
fronto-orbital advancement in non-
syndromic bilateral coronal synostosis: A
quantitative three-dimensional computed
tomographic study. Plast Reconstr Surg
98:393, 1996.
140. Mackinnon IL: The relation of the capacity
of the human skull to its roentgenological
length. Am J Radiol 74:1026, 1955.
141. Mackinnon IL, Kennedy JA, Davies TV:
The estimation of skull capacity from
roentgenological measurements. Am J Radiol
76:303, 1956.
142. Mah J, Kasser J, Upton J: The foot in
Apert syndrome. Clin Plast Surg 18:391,
1991.
143. Mantilla-Capacho JM, Arnaud L, Diaz-
Rodriguez M, Barros-Nunez P: Apert
syndrome with preaxial polydactyly showing
the typical mutation Ser252Trp in the
FGFR2 gene. Genet Couns 16:403,
2005.
144. Marchac D: Radical forehead remodeling for
craniosynostosis. Plast Reconstr Surg
62:335–338, 1978.
145. Marchac D, Renier D, Jones BM: Experience
with the “floating forehead.” Br J Plast Surg
41:1–15, 1988.
146. Marsh JL, Gado M: Surgical anatomy of the
craniofacial dysostoses: Insights from CT
scans. Cleft Palate J 19:212–221, 1982.
147. Marsh JL, Galic M, Vannier MW: Surgical
correction of craniofacial dysmorphology of
Apert syndrome. Clin Plast Surg 18:251,
1991.
148. Marsh JL, Vannier MW: The “third”
dimension in craniofacial surgery. Plast
Reconstr Surg 71:759–767, 1983.
149. Mathijssen I, Arnaud E, Marchac D, et al:
Respiratory outcome of midface
advancement with distraction: A comparison
between Le Fort III and frontofacial
monobloc. J Craniofac Surg 17:880–882,
2006.
150. Matsumoto K, Nakanishi H, Koizumi Y,
et al: Segmental distraction of the midface
in a patient with Crouzon syndrome.
J Craniofac Surg 13:273, 2002.
151. Mavili ME, Tuncbilek G, Vargel I: Rigid
external distraction of the midface with
direct wiring of the distraction unit in
patients with craniofacial dysplasia.
J Craniofac Surg 14:783, 2003.
152. McCarthy JG, Coccaro PJ, Eptstein F,
Converse JM: Early skeletal release in the
infant with craniofacial dysostosis: The role
of the sphenozygomatic suture. Plast Reconstr
Surg 62:335–346, 1978.
153. McCarthy JG, Epstein FJ, Sadove M, et al:
Early surgery for craniofacial synostosis: An
8-year experience. Plast Reconstr Surg 73:521,
1984.
154. 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 Reconstr Surg 96:272, 1995.
155. McCarthy JG, Grayson B, Bookstein F, et al:
Le Fort III advancement osteotomy in the
growing child. Plast Reconstr Surg 74:343,
1984.
156. McCarthy JG, La Trenta GS, Breitbart AS,
et al: The Le Fort III advancement
osteotomy in the child under 7 years of age.
Plast Reconstr Surg 86:633–646, discussion
647-649, 1990.
157. Meazzini MC, Mazzoleni F, Caronni E,
Bozzetti A: Le Fort III advancement
osteotomy in the growing child affected by
Crouzon and Apert syndromes: Presurgical
and postsurgical growth. J Craniofac Surg
16:369, 2005.
158. Meling TR, Hans-Erik H, Per S, Due-
Tonnessen BJ: Le Fort III distraction
osteogenesis in syndromal craniosynostosis.
J Craniofac Surg 17:28, 2006.
159. Meyers GA, Day D, Goldberg R, et al:
FGFR2 exon III and IIIc mutations in
Crouzon, Jackson-Weiss, and Pfeiffer
syndromes: Evidence for missense changes,
insertions and a deletion due to alternative
RNA splicing. Am J Hum Genet 58:491,
1996.
160. Meyers GA, Orlow SJ, Munro IR, et al:
Fibroblast growth factor receptor 3 (FGFR3)
transmembrane mutation in Crouzon
syndrome with acanthosis nigricans. Nat
Genet 11:462, 1995.
161. Montaut J, Stricker M: Dysmorphies
craniofaciales: Les synostoses prematurees
(craniostenoses et facio-stenoses).
Neurochirurgie 23(Suppl 2):1, 1977.
162. Moore MH. Upper airway obstruction in the
syndromal craniosynostoses. Br J Plast Surg
46:355–362, 1993.
163. Moretti G, Sraeffen J: Dysostose
craniofaciale de Crouzon et syringomylie:
Association chez le frere et la soeur. Presse
Med 67:376, 1959.
164. Moss ML: The pathogenesis of premature
cranial synostosis in man. Acta Anat (Basel)
37:351–370, 1959.
165. Muenke M, Gripp KW, McDonald-McGinn
DM, et al: A unique point mutation in the
fibroblast growth factor receptor 3 gene
(FGFR3) defines a new craniosynostosis
syndrome. Am J Hum Genet 60:555, 1997.
166. Muenke M, Schell U: Fibroblast-growth-
factor receptor mutations in human skeletal
disorders. Trends Genet 11:308, 1995.
167. Muenke M, Schell U, Hehr A, et al: A
common mutation in the fibroblast growth
factor receptor 1 gene in Pfeiffer syndrome.
Nat Genet 8:269, 1994.
168. Muenke M, Schell U, Robin NH, et al:
Variable clinical spectrum in Pfeiffer
syndrome: Correlation between phenotype
and genotype. Proc Green Genet Ctr 15:126,
1995.
169. Mulliken JB, Godwin SL, Pracharktam N,
et al: The concept of the sagittal orbital-
globe relationship in craniofacial surgery.
Plast Reconstr Surg 97:700, 1996.
170. Murovic JA, Posnick JC, Drake JM, et al:
Hydrocephalus in Apert syndrome: A
retrospective review. Pediatr Neurosurg
19(3):151–155, 1993.
171. Murray JE, Swanson LT: Midface osteotomy
and advancement for craniosynostosis. Plast
Reconstr Surg 41:299–306, 1968.
172. Nelson TE, Mulliken JB, Padwa BL: Effect
of midfacial distraction on the obstructed
airway in patients with syndromic bilateral
coronal synostosis. J Oral Maxillofac Surg
66:2318–2321, 2008.
173. Nixon GM, Brouillette RT: Sleep. 8:
Pediatric obstructive sleep apnea. Thorax
60511–60516, 2005.
174. Noetzel MJ, Marsh JL, Palkes H, et al:
Hydrocephalus and mental retardation in
craniosynostosis. J Pediatr 107:885,
1985.
175. Nout E, Bouw FP, Veenland JF, et al:
Three-dimensional airway changes after
Le Fort III advancement in syndromic
craniosynostosis patients. J Plast Reconstr
Surg 126:564–571, 2010.
176. Nout E, Cesteleyn LL, Van der Wal KG,
et al: Advancement of the midface, from
conventional Le Fort III osteotomy to Le
Fort III distraction: Review of the literature.
Int J Oral Maxillofac Surg 37:781–789,
2008.
177. Oldridge M, Wilkie AOM, Slaney SF, et al:
Mutations in the third immunoglobulin
domain of the fibroblast growth factor
receptor-2 gene in Crouzon syndrome. Hum
Mol Genet 4:1077, 1995.
178. Ortiz-Monasterio F, Fuente del Campo A:
Refinements on the monobloc orbitofacial
advancement. In Caronni EP, editor:
Craniofacial surgery, Boston, 1985, Little,
Brown, p 263.
179. Ortiz-Monasterio F, Fuente del Campo A,
Carillo A: Advancement of the orbits and
the midface in one piece, combined with
frontal repositioning for the correction of
Crouzon syndrome. Plast Reconstr Surg
61:507–516, 1978.
180. Ousterhout DK, Vargervik K, Clark S:
Stability of the maxilla after Le Fort III
advancement in craniosynostosis syndromes.
Cleft Palate J 23(Suppl 1):91–101, 1986.
181. Padwa B: Effects of midface distraction
osteogenesis on obstructive sleep apnea in
patients with syndromic craniosynostosis.
J Oral Maxillofac Surg 64:49, 2006.
182. Park WJ, Meyers GA, Li X, et al: Novel
FGFR2 mutations in Crouzon and
Jackson-Weiss syndromes show allelic
heterogeneity and phenotypic variability.
Hum Mol Genet 4:1229, 1995.
183. Park WJ, Theda C, Maestri NE, et al:
Analysis of phenotypic features and FGFR2

1258 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
mutations in Apert syndrome. Am J Hum
Genet 57:321–328, 1995.
184. Paznekas WA, Cunningham ML, Howard
TD, et al: Genetic heterogeneity of
Saethre-Chotzen syndrome due to TWIST
and FGFR mutations. Am J Hum Genet
62:1370, 1998.
185. Perkins JA, Sie KC, Milczuk H, et al: Airway
management in children with craniofacial
anomalies. Cleft Palate Craniofac J 34:135,
1997.
186. Peterson SJ, Pruzansky S: Palatal anomalies
in the syndromes of Apert and Crouzon.
Cleft Palate J 11:394, 1974.
187. Peterson-Falzone SJ, Pruzansky S, Purris P,
et al: Nasopharyngeal dysmorphology in the
syndromes of Apert and Crouzon. Cleft
Palate J 18:237, 1981.
188. Pfeiffer RA: Dominant erbliche
akrocephalosyndaktylie. Z Kinderheilkd
90:301–320, 1964.
189. Phillips JH, George AK, Tompson B: Le
Fort III osteotomy or distraction osteogenesis
imperfecta: Your choice. Plast Reconstr Surg
117:1255–1260, 2006.
190. Pijpers M, Poels PJ, Vaandrager JM, et al:
Undiagnosed obstructive sleep apnea
syndrome in children with syndromal
craniofacial synostosis. J Craniofac Surg
15:670–674, 2004.
191. Pollack IF, Losken HW, Biglan AW:
Incidence of increased intracranial pressure
after early surgical treatment of syndromic
craniosynostosis. Pediatr Neurosurg 24:202,
1996.
192. Polley JW, Figueroa AA: Management of
severe maxillary deficiency in childhood and
adolescence through distraction osteogenesis
with an external, adjustable, rigid distraction
device. J Craniofac Surg 8:181–185,
discussion 186, 1997.
193. Pope AW, Ward J: Self-perceived facial
appearance and psychosocial adjustment in
preadolescents with craniofacial anomalies.
Cleft Palate Craniofac J 34:396, 1997.
194. Posnick JC: Craniofacial dysostosis: Staging
of reconstruction and management of the
midface deformity. Neurosurg Clin North Am
2:683–702, 1991.
195. Posnick JC: The craniofacial dysostosis
syndromes: Current reconstructive strategies.
Clin Plast Surg 21(4):585–598, 1994.
196. Posnick JC: The effects of rigid fixation on
the craniofacial growth of the rhesus
monkeys [discussion]. Plast Reconstr Surg
93:11, 1994.
197. Posnick JC: Craniofacial dysostosis
syndromes: A staged reconstructive approach.
In Turvey TA, Vig KWL, Fonseca RJ,
editors: Facial clefts and craniosynostosis:
Principles and management, Philadelphia,
1996, WB Saunders.
198. Posnick JC: Monobloc and facial bipartition
osteotomies: A step-by-step description of
the surgical technique. J Craniofac Surg
7(3):229–250, 1996.
199. Posnick JC: Stability of fronto-orbital
advancement in non-syndromic bilateral
coronal synostosis: A quantitative three-
dimensional computed tomographic study
[discussion]. Plast Reconstr Surg 98:406,
1996.
200. Posnick JC: Crouzon syndrome: Basic
dysmorphology and staging of
reconstruction. Techniques in Neurosurgery
3:216–229, 1997.
201. Posnick JC: The craniofacial dysostosis
syndromes: Staging of reconstruction and
management of secondary deformities. Clin
Plast Surg 24(3):429–446, 1997.
202. Posnick JC: Apert syndrome: Evaluation and
staging of reconstruction. In Posnick JC,
editor: Craniofacial and maxillofacial surgery
in children and young adults, Philadelphia,
2000, WB Saunders Co, pp 308–342.
203. Posnick JC: Brachycephaly: Bilateral coronal
synostosis without midface deficiency. In
Posnick JC, editor: Craniofacial and
maxillofacial surgery in children and young
adults, Philadelphia, 2000, WB Saunders Co;
pp 249–268.
204. Posnick JC: Cloverleaf skull anomalies:
Evaluation and staging reconstruction. In
Posnick JC, editor: Craniofacial and
maxillofacial surgery in children and young
adults. Philadelphia, 2000, WB Saunders Co,
17, pp 354–366.
205. Posnick JC: Crouzon syndrome: Evaluation
and staging of reconstruction. In Posnick JC,
editor: Craniofacial and maxillofacial
surgery in children and young adults.
Philadelphia, 2000, WB Saunders Co,
pp 271–307.
206. Posnick JC: Pfeiffer syndrome: Evaluation
and staging of reconstruction. In Posnick JC,
editor: Craniofacial and maxillofacial
surgery in children and young adults.
Philadelphia, 2000, WB Saunders Co,
16, pp 343–353.
207. Posnick JC: The monobloc and facial
bipartition osteotomies: A step-by-step
description of the surgical technique. In
Posnick JC, editor: Craniofacial and
maxillofacial surgery in children and young
adults. Philadelphia, 2000, WB Saunders Co,
18, pp 367–388.
208. Posnick JC, Al-Qattan MM, Armstrong D:
Monobloc and facial bipartition osteotomies
reconstruction of craniofacial malformations:
A study of extradural dead space. Plast
Reconstr Surg 97(6):1118–1128, 1996.
209. Posnick JC, Armstrong D, Bite U: Crouzon
and Apert syndrome: Intracranial volume
measurements prior to and after cranio-
orbital reshaping in childhood. Plast Reconstr
Surg 96(3):539–548, 1995.
210. Posnick JC, Bite NP, Nakano P, Davis J,
Armstrong D: Indirect intracranial volume
measurements using CT scans: Clinical
applications for craniosynostosis. Plast
Reconstr Surg 89(1):34–45, 1992.
211. Posnick JC, Farkas LG. The application of
anthropometric surface measurements in
craniomaxillofacial surgery. In Farkas LG,
editor: Anthropometry of the head and face,
New York, 1994, Raven Press.
212. Posnick JC, Farkas LG: Anthropometric
surface measurements in the analysis of
craniomaxillofacial deformities: Normal
values and growth trends. In Posnick JC,
editor: Craniofacial and maxillofacial surgery
in children and young adults, Philadelphia,
2000, WB Saunders Co, pp 55–79.
213. Posnick JC, Goldstein JA, Armstrong D,
Rutka JT: Reconstruction of skull defects in
children and adolescents by the use of fixed
cranial bone grafts: Long-term results.
Neurosurgery 32(5):785–791, 1993.
214. Posnick JC, Goldstein JA, Clokie C:
Advantages of the postauricular coronal
incision. Ann Plast Surg 29(2):114–116,
1992.
215. Posnick JC, Goldstein JA, Clokie C:
Refinements in pterygomaxillary dissociation
for total midface osteotomies:
Instrumentation, technique and CT scan
analysis. Plast Reconstr Surg 91(1):167–172,
1993.
216. Posnick JC, Lin KY, Jhawar BJ, Armstrong
D: Crouzon syndrome: Quantitative
assessment of presenting deformity and
surgical results based on CT scans. Plast
Reconstr Surg 92(6):1027–1037, 1993.
217. Posnick JC, Lin KY, Jhawar BJ, Armstrong
D: Apert syndrome: Quantitative assessment
in presenting deformity and surgical results
after first-stage reconstruction by CT scan.
Plast Reconstr Surg 93:489–497, 1994.
218. Posnick JC, Ruiz R: The craniofacial
dysostosis syndromes: Current surgical
thinking and future directions. Cleft Palate
Craniofac J 37(5):433, 2000.
219. Posnick JC, Ruiz R, Tiwana P: The
craniofacial dysostosis syndromes: Stages of
reconstruction. Oral Maxillofac Surg Clin
North Am 475–491, 2004.
220. Posnick JC, Waitzman A, Armstrong D,
Pron G: Monobloc and facial bipartition
osteotomies: Quantitative assessment of
presenting deformity and surgical results
based on computer tomography scans. J Oral
Maxillofac Surg 53(4):358–367, 1995.
221. Posnick JC, Yaremchuk M: The effect of
non-resorbable internal fixation devices
placed on and within a child’s cranial vault:
Brain function, morbidity and growth
restrictions [editorial]. Plast Reconstr Surg
96:966, 1995.
222. Pugeaut R: Le probleme neuro chirurgical
des craniostenoses. Cahier Med Lyon
44:3343, 1968.
223. Reardon W, Winter RM, Rutland P, et al:
Mutations in the fibroblast growth factor
receptor 2 gene cause Crouzon syndrome.
Nat Genet 8:98, 1994.
224. Reddy BSN: An unusual association of
acanthosis nigricans and Crouzon disease.
J Dermatol 12:85, 1985.
225. Regnault F, Crouzon O: Etude sur un cas de
dysostose craniofaciale hereditaire. Ann Med
Enfant 43:676, 1927.
226. Renier D: Intracranial pressure in
craniosynostosis: Pre- and postoperative
recordings—correlation with functional

1259
CHAPTER 30  Syndromes with Craniosynostosis: Evaluation and Treatment
results. In Persing JA, Edgerton MT, Jane
JA, editors: Scientific foundations and surgical
treatment of craniosynostosis, Baltimore, 1989,
Williams & Wilkins, pp 263–269.
227. Renier D, Arnaud E, Cinalli G, et al:
Prognosis for mental function in Apert
syndrome. J Neurosurg 85:66, 1996.
228. Renier D, Marchac D: Intracranial pressure
recordings: Analysis of 300 cases. In Marchac
D, editor: Craniofacial surgery: Proceedings of
the First International Congress on
Craniomaxillofacial Surgery, Heidelberg,
1988, Springer-Verlag.
229. Renier D, Marchac D: Longitudinal
assessment of mental development in infants
with nonsyndromic craniosynostosis with
and without cranial release and
reconstruction [discussion]. Plast Reconstr
Surg 92:840, 1993.
230. Renier D, Sainte-Rose C, Marchac D, et al:
Intracranial pressure in craniosynostosis.
J Neurosurg 57:370, 1982.
231. Robin NH, Scott JA, Arnold JE, et al:
Favorable prognosis for children with Pfeiffer
syndrome types 2 and 3: Implications for
classification. Am J Med Genet 75:240,
1998.
232. Rougerie J, Derome P, Anquez L:
Craniostenosis et dysmorphies craniofaciales.
Principes d’un nouvelle technique de
traitement et ses resultats. Neurochirurgie
18:429, 1972.
233. Rutland P, Pulley LJ, Reardon W: Identical
mutations in the FGFR2 gene cause both
Pfeiffer and Crouzon syndrome phenotypes.
Nat Genet 9:173–176, 1995.
234. Saethre H: Ein beitrag zum
turmschadelproblem (pathogenese,
erblichkeit und symptomatologie). Deutsche
Zeitschrift fur Nervenheilkunde 117:533,
1931.
235. Satoh K, Mitsukawa N, Hosaka Y: Dual
midfacial distraction osteogenesis: Le Fort III
minus I and Le Fort I for syndromic
craniosynostosis. Plast Reconstr Surg
111:1019, 2003.
236. Schell U, Hehr A, Feldman GJ, et al:
Mutations in FGFR1 and FGFR2 cause
familial and sporadic Pfeiffer syndrome.
Hum Mol Genet 4:323, 1995.
237. Schiller JG: Craniofacial dysostosis of
Crouzon: A case report and pedigree with
emphasis on hereditary. Pediatrics 23:107,
1959.
238. Seruya M, Oh A, Boyajian M, et al:
Long-term outcomes of primary craniofacial
reconstruction for craniosynostosis: A
12-year experience. Plast Reconstr Surg
127:2397, 2011.
239. Shetye PR, Boutros S, Grayson BH, et al:
Midterm follow-up of midface distraction
for syndromic craniosynostosis: A clinical
and cephalometric study. Plast Reconstr Surg
120:1621–1632, 2007.
340. Shetye PR, Davidson EH, Sorkin M, et al:
Evaluation of three surgical techniques
for advancement of the midface in the
growing children with syndromic
craniosynostosis. Plast Reconstr Surg
126:982–994, 2010.
241. Shetye PR, Grayson BH, McCarthy JG: Le
Fort III distraction: Controlling position and
path of the osteotomized midface segment
on a rigid platform. J Craniofac Surg
21:1118–1121, 2010.
242. Shetye PR, Kadadia H, Grayson BH,
McCarthy JG: A 10-year study of skeletal
stability and growth of the mid face
following Le Fort III advancement in
syndromic craniosynostosis. Plast Reconstr
Surg 126:973–981, 2010.
243. Shillito J, Jr, Matson DD: Craniosynostosis:
A review of 519 surgical patients. Pediatrics
41:829, 1968.
244. Shin JH, Duncan CC, Persing J: Monobloc
distraction: Technical modification and
considerations. J Craniofac Surg 14:763,
2003.
245. Siddiqi SN, Posnick JC, Buncic R, et al: The
detection and management of intracranial
hypertension after initial suture release and
decompression for craniofacial dysostosis
syndromes. Neurosurgery 36(4):703–708,
1995.
246. Singal VK, Mooney MO, Burrows AM,
et al: Age-related changes in intracranial
volume in rabbits with craniosynostosis. Plast
Reconstr Surg 100:1121, 1997.
247. Singhi S, Walia BNS, Singhi P, et al: A
simple nonroentgenographic alternative for
skull volume measurements in children. Ind
J Med Res 82:150, 1985.
248. Slaney SF, Oldridge M, Hurst JA, et al:
Differential effects of FGFR2 mutations on
syndactyly and cleft plate in Apert syndrome.
Am J Med Genet 58:923–932, 1996.
249. Spinelli HM, Irizarry D, McCarthy JG, et al:
An analysis of extradural dead space after
fronto-orbital surgery. Plast Reconstr Surg
93:1372, 1994.
250. Steinberger D, Mulliken JB, Muller U:
Predisposition for cysteine substitutions in
the immunoglobulin-like chain of FGFR2 in
Crouzon syndrome. Hum Genet 96:113,
1995.
251. Stevens CA, Roeder ER: Ser351Cys
mutation in the fibroblast growth factor
receptor 2 gene results in severe Pfeiffer
syndrome. Clin Dysmorphol 15:187, 2006.
252. Tessier P: Demonstration operations at
Hopital Foch, Paris-Suresnes, Nov 1967.
253. Tessier P: Total facial osteotomy. Crouzon
syndrome, Apert syndrome: Oxycephaly,
scaphocephaly, turricephaly [French]. Ann
Chir Plast 12:273–286, 1967.
254. Tessier P: Dysostosis cranio-faciales (syndromes
de Crouzon et d’Apert) osteotomies totales de la
face. Transactions of the Fourth International
Congress of Plastic and Reconstructive Surgery,
Rome, 1969, October 1967, Excerpta
Medica Foundation, Amsterdam,
pp 774–783.
255. Tessier P: Autogenous bone grafts taken
from the calvarium for facial and cranial
applications. Plast Reconstr Surg 48:224,
1971.
256. Tessier P: The definitive plastic surgical
treatment of the severe facial deformities of
craniofacial synostosis: Crouzon and Apert
diseases. Plast Reconstr Surg 48:419, 1971.
257. Tessier P: Total osteotomy of the middle
third of the face for faciostenosis or for
sequelae of the Le Fort III fractures. Plast
Reconstr Surg 48:533, 1971.
258. Tessier P: Traitement des dysmorphies
faciales propres aux dysostoses craniofaciales
(DGF), maladies de Crouzon et d’Apert.
Neurochirurgie 17:295, 1971.
259. Tessier P: Recent improvement in the
treatment of facial and cranial deformities in
Crouzon disease and Apert syndrome. In
Symposium of Plastic Surgery of the Orbital
Region, St Louis, MO, 1976, CV Mosby Co,
p 271.
260. Tessier P: Relationship of craniosynostosis to
craniofacial dysostosis and to faciosynostosis:
A study with therapeutic implications. Clin
Plast Surg 9:531, 1982.
261. Tessier P: Apert syndrome:
Acrocephalosyndactyly, type I. In Caronni P,
editor: Craniofacial surgery, Boston, 1985,
Little, Brown.
262. Tessier P: Craniofacial surgery in syndromic
craniosynostosis: Craniosynostosis, diagnosis,
evaluation and management, New York,
1986, Raven Press, p 321.
263. Tessier P: The monobloc and frontofacial
advancement: Do the pluses outweigh the
minuses? [discussion]. Plast Reconstr Surg
91:988, 1993.
264. Tessier P, Guiot G, Rougerie J, et al:
Osteotomies cranio-naso-orbito-faciales,
hypertelorisme. Chir Plast 12:103, 1967.
265. Thompson DN, Harkness W, Jones B, et al:
Subdural intracranial pressure monitoring in
craniosynostosis: Its role in surgical
management. Childs Nerv Syst 11:269–275,
1995.
266. Tuite GF, Chong WK, Evanson J, et al: The
effectiveness of papilledema as an indicator
of raised intracranial pressure in children
with craniosynostosis. Neurosurgery 38:272,
1996.
267. Van der Meulen JC: Medial faciotomy. Br J
Plast Surg 32:339–342, 1979.
268. Vannier MW, Pilgram TK, Marsh JL, et al:
Craniosynostosis: Diagnostic imaging with
three-dimensional CT presentation. AJNR
Am J Neuroradiol 15:1861–1869, 1994.
269. Virchow R: Uber den cretinismus, nametlich
in Franken, under uber pathologische:
Schadelformen Verk Phys Med Gessellsch
Wurszburg 2:230–271, 1851.
270. Vogt A: Dyskephalie (dysostosis
craniofacialis, maladie de Crouzon 1912)
und eine neuartige kombination dieser
krankheir mit syndaktylie der 4
extremitaeten (dyskephlodaktylie). Klin
Monatsbl Augenheilk 90:441, 1933.
271. Vuilliamy DG, Normandale PA: Craniofacial
dysostosis in a Dorset family. Arch Dis Child
41:275, 1966.
272. Waitzman AA, Posnick JC, Armstrong D,
Pron GE: Craniofacial skeletal measurements

1260 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
based on computed tomography: Part I.
Accuracy and reproducibility. Cleft Palate
Craniofac J 29:112–117, 1992.
273. Waitzman AA, Posnick JC, Armstrong D,
Pron GE: Craniofacial skeletal
measurements based on computed
tomography. Part II. Normal values and
growth trends. Cleft Palate Craniofac J
29:118–128, 1992.
274. Walia HK, Sodhi JS, Gupta BB, et al:
Roentgenologic determination of the
cranial capacity in the first four years
of life. Indian J Radiol Imaging 26:250,
1972.
275. Ward SL, Marcus CL: Obstructive sleep
apnea in infants and young children. J Clin
Neurophysiol 13:198–207, 1996.
276. Warren SM, Shetye PR, Obaid SI, et al:
Long-term evaluation of midface position
after Le fort III advancement: A 20-plus-year
follow-up. Plast Reconstr Surg 129: 234–242,
2012.
277. Whitaker LA, Bartlett SP, Schut L, et al:
Craniosynostosis: An analysis of the timing,
treatment and complications in 164
consecutive patients. Plast Reconstr Surg
80:195, 1987.
278. Whitaker LA, Munro IR, Sayler KE, et al:
Combined report of problems and
complications in 793 craniofacial operations.
Plast Reconstr Surg 64:198, 1979.
279. Whitaker LA, Schut L, Kerr LP: Early
surgery for isolated craniofacial dysostosis.
Plast Reconstr Surg 60:575, 1977.
280. Witherow H, Dunaway D, Evans R, et al:
Functional outcomes in monobloc
advancement by distraction using the rigid
external distractor device. Plast Reconstr Surg
121:1311–1322, 2008.
281. Wolfe SA: Critical analysis of 81 monobloc
frontofacial advancements over a 27-year
period: Should they all be distracted, or
not? Rancho Mirage, Calif, 2009, Abstract
Presentation, 88th Annual Meeting,
American Association of Plastic Surgeons.
pp 200–201.
282. Wolfe SA, Morrison G, Page LK, et al:
The monobloc and frontofacial
advancement: Do the pluses outweigh
the minuses? Plast Reconstr Surg 91:977,
1993.
283. Wong GB, Kakulis EG, Mulliken JB:
Analysis of fronto-orbital advancement for
Apert, Crouzon, Pfeiffer, and Saethre-
Chotzen syndromes. Plast Reconstr Surg
105:2314, 2000.
284. Xu HS, Mu XZ, Yu ZY, et al: Changes of
different section area at different parts of
upper-airway after Le Fort III osteotomy
[Chinese]. Zhonghua Zheng Xing Wai Ke Za
Zhi 24:181–183, 2008.
285. Zhou G, Schwartz LT, Gopen Q: Inner ear
anomalies and conductive hearing loss in
children with Apert syndrome: An
overlooked otologic aspect. Otol Neurotol
30:184–189, 2009.

1261

31
Selected Complex Malformations
that Frequently Require
Maxillofacial Reconstruction:
Evaluation & Treatment
JEFFREY C. POSNICK, DMD, MD
• Klippel–Feil Anomaly
• Down Syndrome (Trisomy 21 Syndrome)
• Neurofibromatosis
• Hemihyperplasia of the Face
• Vascular Malformations
• Velocardiofacial Syndrome
• Conclusions
because this condition results from the failure of the normal
segmentation process.24 Vertebral fusion can be traced to
the third embryonic week when the segmentation of the
mesodermal somites normally takes place.
KFA was described as early as the 16th century, and
similar anatomic findings in the second and third cervical
vertebrae have been found in an Egyptian mummy that has
been dated to be from about 500 B.C. In 1912, Maurice
Klippel and Andre Feil described the postmortem findings
of a 46-year-old French tailor who had a short, immobile
neck with massive fusion of cervical and upper thoracic
vertebrae.34 In 1919, Feil added reports of 13 additional
patients, 12 of whose cases had been reported previously.
In 1967, Gunderson and colleagues categorized KFA in
accordance with three morphologic types of cervical verte­
bral fusion.27 Type I consists of the massive fusion of many
cervical and upper thoracic vertebrae into bony locks. Type
II involves fusion at only one or two interspaces. Type III
comprises both cervical fusion and lower thoracic or lumbar
fusion.
It is important to remember that KFA is morphologically
and etiologically heterogeneous. This was further docu­
mented by Gunderson, who used Feil’s classification system
to review inheritance patterns.28 Type I cases have almost all
been sporadic, with a female predilection. Type II is trans­
mitted as an autosomal dominant disorder. For Type III,
an autosomal recessive mode of inheritance has been
suggested.
Various authors differ with regard to their interpretation
of what constitutes KFA.9,61-63 A malformation with the
triad of a short neck, a low posterior hairline, and a painless
restriction of cervical motion characterizes just over 50% of
patients. The functional limitation of the neck range of
motion is the most consistent finding. Despite frequent
More than 400 syndromes and anomalies produce a spec­
trum of head and neck dysfunctions and facial dispropor­
tions within the maxillofacial region. Each syndrome type
and its presenting set of anomalies will be unique, with
individual variations. Developing an appreciation for the
complexity of how these patients present is essential to
providing thoughtful counsel regarding the timing and
techniques of maxillofacial reconstruction and orthodontic
care. In this chapter, only a few of the more frequently
encountered syndromes are reviewed; suggestions are given
for their reconstruction.
Klippel–Feil Anomaly
Background
The Klippel–Feil anomaly (KFA) is characterized by the
congenital fusion of two or more cervical vertebrae. In its
most severe form, there is massive cervical vertebral fusion
with a short neck, limited head movement, and a low
posterior hairline.2,12,15,21,23,29,37,39,55 Gorlin and Cohen have
pointed out that the term vertebral fusion is not accurate

1262 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
sparing of the atlanto–axial joint, rotation is typically
impaired more than flexion or extension is, with the latter
exhibiting a range of more than 90 degrees, even with only
one open disc space.
With the severe form of KFA (Type I deformity), there
is massive cervical vertebral fusion, and the head seems to
sit directly on the thorax, without any interposition of the
neck. The flared trapezius muscles extend from the mastoid
areas to the shoulders, which produces a pterygium-like
effect. Posteriorly, the hairline extends to the shoulders.
Cervical foreshortening (rather than overgrowth of the
scalp) displaces the hairline and is accompanied by webbing
of the neck.
Diverse ocular anomalies are frequently found, with the
impairment of extraocular movement being the most
frequent.57Convergent strabismus and, less commonly, hor­
izontal nystagmuses are seen. From 25% to as many as 50%
of affected children exhibit hearing loss that may be senso­
rineural, mixed, or conductive.11,16,39,51,60,64 Clefting of the
secondary palate is present in 15% to 20% of patients.10,58,59
The combination of hearing loss and cleft palate explains
the hypernasality that has been documented in approxi­
mately 15% to 20% of patients with KFA. Congenital heart
defects occur in 4.2% of patients, which is in stark contrast
with the prevalence of 0.6% among all live births in the
general population.50 Ventricular septal defect is the most
common heart anomaly documented,43 and vascular anom­
alies may also occur.5,6 Congenital urinary anomalies are a
frequent finding, with unilateral renal agenesis occurring
in 28% of patients.14 Genital anomalies (e.g., vaginal agen­
esis) also occur at a higher frequency in these patients than
they do in the general population.40,42 Neurologic distur­
bances that consist of involuntary dyskinesis, spasticity or
hyperreflexia, syringomyelia, syringobulbia, disc protrusion,
osteophytes, and narrowing at the level of the cranioverte­
bral junction have been reported..3,20,22,36,44,48 Nagib and
colleagues found patients with KFA with two unsegmented
blocks of bone, cervical stenosis, or cranial involvement to
be at highest risk for neurologic disturbances.45-47 Those
with only one unsegmented bone were found to be at low
risk for cervical injuries. The flared trapezius muscles associ­
ated with KFA give the individual an appearance that may
be similar to that seen in patients with Turner or Noonan
syndrome.8,13,18,38 The cervical vertebral anomalies and other
defects of the spine that occur within the oculo–auriculo–
vertebral spectrum may also be confused with those of
KFA.4,7,8,25,32,33,35,49,52,54,56
Author’s Approach to Facial Reconstruction in
Patients with Klippel–Feil Anomaly
The surgical management of KFA requires the accurate
diagnosis of each specific problem (see Fig. 1-2).17,26,31
Middle-ear infections should be treated promptly, and any
hearing deficit should be aided whenever possible. Clefting
of the secondary palate should be repaired in the usual way.
Hypernasality as a result of inadequate soft palate motion
after initial palate repair should be recognized and treated
with a pharyngoplasty. Extraocular muscle abnormalities are
managed with eye patching, spectacles, and eye-muscle
surgery, as appropriate. The recognition of cardiovascular
and genitourinary malformations should lead to medical
treatment and surgery. Cervical spine instability requires the
decompression of any nerve impingement and the fusion of
unstable segments. Unfortunately, the typical fixed neck
curvature observed in patients with KFA cannot safely be
straightened.
The aim of the reconstructive procedures used to correct
a webbed neck is to create as normal a neck contour as
possible with a symmetrical posterior hairline while avoid­
ing obvious scarring.1 It is important to recognize that not
all patients with webbed necks present with the same defor­
mity. The clinician must assess the quality and quantity of
available neck skin as well as the height and straightness of
the cervical spine. Type I KFA consists of an extremely short
skeletal neck that results in the increased width of the neck
soft tissues. A spectrum of neck soft-tissue rearrangement
procedures has been suggested to improve the webbed-neck
deformity. Menick and colleagues modified the “butterfly”
excision of redundant skin to avoid a midline scar.41 They
did this by extending the more traditional inferior flaps into
the scalp. Unfortunately, with this design, the scars are
displaced laterally, and they become visible at the hairline,
close to the original site of the web. Some surgeons feel that
a midline posterior scar is often preferred aesthetically to
one that can be seen along the lateral neck region. The
placement of tissue expanders followed by flap rearrange­
ments has also been carried out with some success. Thus, to
review, procedures designed to correct the webbed neck
suffer from an inability to elevate the hairline, noticeable
scarring, and the intrinsically inadequate height of the skel­
etal structures of the neck.
The craniofacial skeletal deformities of patients with
KFA typically present in one of two patterns.19,30,53 The first
is in association with a congenital asymmetrical cervical
spine fusion. In these patients, a variable degree of non-
synostotic anterior plagiocephaly is present. The ipsilateral
fronto–orbito–zygomatic flattening and retrusion may be
significant enough that anterior cranial vault, orbital, and
zygomatic reconstruction carried out through an intracra­
nial approach will be indicated to adequately improve mor­
phology (Fig. 31-1). These individuals will also have an
asymmetrical dentofacial deformity that requires Le Fort I
(maxillary) osteotomy, bilateral sagittal split ramus osteoto­
mies of the mandible, and an osseous genioplasty procedure
for three-dimensional repositioning (Fig. 31-2). The most
unsettling aspect of the craniofacial reconstruction relates
to the fact that the neck cannot be straightened. It will
remain crooked, and so decisions about the best aesthetic
positioning of the osteotomized craniofacial skeletal units
must also be adjusted.
The second pattern of presentation is in association
with a congenital symmetric cervical spine fusion. The
cranio–orbito–zygomatic region is symmetrical and has

1263
CHAPTER 31  Selected Complex Malformations that Frequently Require Maxillofacial Reconstruction: Evaluation & Treatment
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• Figure 31-1  A 17-year-old boy with Klippel–Feil anomaly has a fixed head tilt as a result of a painless cervical spine fusion and a partial facial
nerve palsy on the right side. There is marked asymmetry and deformity of the craniofacial region that involves the upper facial skeleton (i.e., the
cranial vault, the orbits, and the zygomas) and the lower facial skeleton (i.e., the maxilla, the mandible, and the chin). The reconstruction was
compromised by the fixed head tilt and the CN VII deficit. The patient underwent cranio–orbito–zygomatic (intracranial) reconstruction through a
coronal scalp incision followed by orthognathic surgery that included a Le Fort I osteotomy, bilateral sagittal split ramus osteotomies, and an osseous
genioplasty. A, Frontal facial and computed tomography scan views before surgery. B, Occlusal view before surgery and articulated dental cast
that indicates analytic model planning. C, Intraoperative view of removed orbital and zygomatic units and intraoperative bird’s-eye view of the
anterior cranial vault after cranio–orbito–zygomatic reconstruction.
Continued

1264 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
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D
E
D, Frontal views with
smile before and after reconstruction. Note
that the fixed head tilt limited the the correction
of facial symmetry. E, Oblique views before
and after reconstruction. F, Profile views
before and after reconstruction.
• Figure 31-1, cont’d

1265
CHAPTER 31  Selected Complex Malformations that Frequently Require Maxillofacial Reconstruction: Evaluation & Treatment
H
Orthodontics in progress with maxillary bicuspid extractions
After treatment
G
G, Occlusal views with orthodontics in progress (including upper bicuspid extractions) and then after recon­
struction. H, Three-dimensional computed tomography scan views before and after reconstruction.
• Figure 31-1, cont’d 
relatively good proportions.53 No reconstruction procedures
are generally required in the upper facial skeleton. With
reference to the maxillomandibular region, the constant
open mouth posture of the mandible generally results in
vertical maxillary excess and a constricted maxillary arch
width. The mandible is usually retrognathic, with a verti­
cally long retrusive chin and an open-bite malocclusion. A
degree of maxillomandibular asymmetry is expected. The
neck–chin angle is markedly obtuse. These individuals will
benefit from orthognathic surgery in combination with
orthodontic treatment. The orthognathic surgery will gen­
erally require a Le Fort I osteotomy in segments to intrude
the maxilla vertically, advance it horizontally, and widen it
transversely. The preferred approach also involves bilateral
sagittal split ramus osteotomies of the mandible with
horizontal advancement and counterclockwise rotation to
match the new maxillary position in combination with
a vertical reduction and advancement genioplasty (see
Chapter 15).
Down Syndrome (Trisomy 21
Syndrome)
Background
Speculation about the historic prevalence of Down
syndrome has included references to depictions of the
syndrome in 15th- and 16th-century paintings.69,81

Orth
r ognathic Surg
r ery; J.C. Posnick
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r ery; J.C. Posnick
Orth
r ognathic Surg
r ery; J.C. Posnick
Orth
r ognathic Surg
r ery; J.C. Posnick
A
B
• Figure 31-2  A teenage girl with the Klippel–Feil and Poland congenital anomalies has a fixed head tilt as a result of a painless cervical spine
fusion. At birth, she was noted to have a significant diaphragmatic herniation of the stomach and spleen into the thoracic cavity. She underwent
procedures for the correction of the diaphragmatic hernia and then required esophageal dilatations. She also required decompression and fusion
for the cervical anomalies to limit injury to the upper spinal cord. She was referred to this surgeon as a teenager and underwent evaluations that
included restorative dentistry, orthodontics, speech pathology, otolaryngology, pediatric surgery, pediatric orthopedic spine surgery, and pediatrics
professionals. The assessment of pulmonary capacity, swallowing and dysphagia, and safe range of motion of the neck were of particular impor­
tance. There was marked asymmetry and deformity of the maxillomandibular region. The plans for reconstruction were affected by the fixed head
tilt. The patient underwent a combined orthodontic and surgical approach, and her procedures included: maxillary Le Fort I osteotomy (horizontal
advancement and cant correction); sagittal split ramus osteotomies (horizontal advancement and asymmetry improvement); osseous genioplasty
(vertical shortening and horizontal advancement); and septoplasty and inferior turbinate reduction. Intraoperative cervical monitoring was carried
out to limit the chance of spinal cord injury. A, Frontal views in repose before and after reconstruction. B, Frontal views with smile before and after
reconstruction.

1267
CHAPTER 31  Selected Complex Malformations that Frequently Require Maxillofacial Reconstruction: Evaluation & Treatment
Orth
r ognathic Sur
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D
C, Oblique facial views before and after reconstruction. D, Profile views before and after reconstruction.
• Figure 31-2, cont’d 
Continued

1268 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
F
Early orthodontics in progress
Pre surgery with upper bicuspid extractions
After treatment
E
E, Occlusal views before treatment, with orthodontics in progress and with upper bicuspid extractions, and
then after reconstruction. F, Computed tomography scan views before reconstruction.
• Figure 31-2, cont’d

1269
CHAPTER 31  Selected Complex Malformations that Frequently Require Maxillofacial Reconstruction: Evaluation & Treatment
G
Roll Orientation Correction
H
I
G and H, Articulated dental models that indicate analytic model planning. I, Cephalometric radio­
graphs before and after reconstruction.
• Figure 31-2, cont’d

1270 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
muscle hypotonia at birth, and dysmorphic features occur
to some extent in all individuals, most associated traits
occur in only a fraction of affected individuals. In the
patient with Down syndrome, a number of characteristic
facial features that vary from patient to patient are fre­
quently recognized:
1. Epicanthal folds
2. Oblique (anti-mongoloid) slanting of the eyelids
3. Strabismus as a result of extraocular muscle
dysfunction
4. Flatness of the dorsum of the nose
5. Hypoplasia of the upper jaw that results in an Angle
Class III malocclusion
6. Macroglossia
7. Microgenia
In 1967, Otermin Aguirre presented a series of patients
with Down syndrome who underwent reconstructive
surgery in an attempt to normalize their facial morphol­
ogy.93 During the same year, Hohler attempted to normal­
ize the face of a young girl with Down syndrome by
augmenting the hypoplastic dorsum of the nose and the
receding chin with alloplastic implants.77 In 1977, Lem­
perle and Spitalny systematically tried to normalize the
faces of children with Down syndrome.82-85 Similar results
were published by Olbrisch,91,92 Patterson and colleagues,94
Wexler and Peled,103,104 and Rozner,99 in addition to several
others.76,90,94,97
Despite the initial enthusiasm for facial reconstruction
in children with Down syndrome during the late 1960s
through the mid 1980s, a critical review of the procedures
used to normalize the face was not carried out until the mid
to late 1980s. In 1989, Katz and Kravetz presented a bal­
anced, thoughtful review and a discussion of the literature
regarding the “effectiveness of facial surgery for persons with
Down syndrome.”79 The research of Katz and Kravetz may
be summarized as follows: If improved functioning, appear­
ance, and social acceptability are measured by parent and
treating physician satisfaction, then the outcome of facial
plastic surgery for people with Down syndrome seems posi­
tive. If function, appearance, and social acceptability are
evaluated by people who were not involved in making the
decision to conduct the facial plastic surgery—and particu­
larly when control subjects are included in the evaluation—
then the outcome of facial plastic surgery for people with
Down syndrome is not so positive. For most patients with
Down syndrome, the surgeons’ and parents’ well-intentioned
attempts to normalize the child’s facial morphology could
not be realized.96
Macroglossia with protrusion of the large tongue is a
frequent feature of Down syndrome. Dystonia or hypotonia
of the tongue is also a factor.66,74 During the 1970s and
the early 1980s, several investigators suggested that partial
glossectomy in the patient with Down syndrome could
improve the clarity of speech.68,70 However, studies that used
objective criteria to document speech results after partial
Martínez-Frías described what seems to be the earliest
observation of the syndrome in a sculpted terracotta head
from 580 A.D.89 The terracotta piece comes from the Toltec
culture of Mexico, and its facial features, which include
macroglossia, help to define its subject as a person with
Down syndrome. The features of this Down syndrome were
initially described by Langdon Down in 1866, and the
condition represents a combination of phenotypic features
that includes a degree of mental deficiency and characteris­
tic facial features.72
The birth prevalence of trisomy 21 syndrome is generally
stated to be 1 in 650 live births, but it is known to vary in
different populations from 1 in 600 to 1 in 2000 live births.
During the 1970s, 15% of patients who had been institu­
tionalized for mental deficiency were found to have trisomy
21 syndrome.75
About 95% of all cases of Down syndrome arise from
non-disjunction. Approximately 80% are of maternal
origin, with 20% being of paternal origin. The risk increases
with increasing maternal age as well as with paternal age
and particularly when the parents are more than 35 years
old. It has been estimated that approximately 4.8% of
Down syndrome cases arise from an unbalanced transloca­
tion, which may occur de novo or by parental transmission.
Inherited D/G translocations occur in 93% of maternal
cases and 7% of paternal cases; however, for G/G transloca­
tions, 50% are of maternal origin, and 50% are of paternal
origin. It has been estimated that 65% to 80% of trisomy
21 conceptuses result in spontaneous abortions.75
Detectable mosaicism (found in about 3% of trisomy 21
cases) and the Down syndrome phenotype may only be
partially expressed.75 The use of the DNA samples from
individuals who have partial trisomy 21 with or without
features of the phenotype has been helpful for understand­
ing the nature of the disorder. The area between loci D21S58
and D21S42 has been identified as being associated with
mental retardation and with most of the facial features of
Down syndrome. The facial features that have been identi­
fied in this region include oblique palpebral fissures; epican­
thal folds; a flat nasal bridge; a protruding tongue; short,
broad hands with clinodactyly of the fifth finger; a gap
between first and second toes; hypotonia; short stature;
Brushfield spots; and characteristic dermatoglyphic find­
ings, including a single palmar crease and an increased
number of ulnar loops.88
Individuals with Down syndrome have a specific set of
major congenital malformations, including heart anomalies
(30% to 40%) and gastrointestinal tract anomalies such
as duodenal stenosis or atresia, imperforate anus, and
Hirschsprung disease.75 The development of Alzheimer
disease occurs at a much earlier age in individuals with
trisomy 21 than it does in the general population. The
frequency of symptomatic gallbladder disease is 25% higher
among adults with Down syndrome as compared with the
general population.
Down syndrome is characterized by extensive pheno­
typic variability.65,67,71,98 Although cognitive impairment,

1271
CHAPTER 31  Selected Complex Malformations that Frequently Require Maxillofacial Reconstruction: Evaluation & Treatment
glossectomy in patients with Down syndrome showed no
significant differences in the number of articulation errors
between audiotape recordings made preoperatively and 6
months postoperatively in a series of patients or between
the recordings of the same patients and recordings of an
additional series of Down syndrome control patients who
did not undergo surgery. A further study by Margar-Bacal
and colleagues looked at changes in the aesthetic appearance
and intelligibility of speech after partial glossectomy in
patients with Down syndrome.87 The aesthetic appearance
of speech (i.e., the visual acceptability of the patient while
he or she is speaking) was judged from visual information
only. Judgments of speech intelligibility were made sepa­
rately from the auditory portion of the videotapes. The
acceptability and intelligibility of the children were also
judged together during audiovisual presentation. Statistical
analysis showed that speech was significantly more accept­
able aesthetically after surgery. No significant difference was
found in speech intelligibility postoperatively as compared
with preoperatively.
An Angle Class III malocclusion as a result of the midface
hypoplasia with overclosure of the mandible is a frequent
finding in patients with Down syndrome.95 This was objec­
tively studied by Farkas with the use of anthropometric
measurements in which he documented that 60% of chil­
dren with Down syndrome showed a disproportionately
small depth to the middle third of the face (i.e., the anthro­
pometric measurement from the subnasal point to the
tragus).73 The congenital absence of permanent teeth, poor
root formation, and hypoplasia of the enamel are frequent
complicating factors.
Author’s Approach to Facial Reconstruction
in Individual’s with Down Syndrome
By the time that a individual with Down syndrome is 5
years old (with a formal speech and language assessment if
the tongue is confirmed to be excessive in volume and if he
or she is unable to comfortably maintain the tongue in the
oral cavity), a conservative partial glossectomy may be
useful to limit secondary skeletal deformities, improve
breathing, and improve the aesthetic appearance of the child
while he or she is eating or speaking and when his or her
lower jaw is at rest. The basic procedure is a closing anterior
wedge resection of the tongue that is carried out with the
patient under general anesthesia. A variety of other tech­
niques have also been described to conservatively reduce the
size of the tongue.
When a child with Down syndrome approaches skeletal
maturity (i.e., 14 to 16 years of age for girls, 16 to 18 years
of age for boys) and a significant jaw deformity with maloc­
clusion is present, then a comprehensive approach of orth­
odontic treatment and orthognathic surgery can effectively
alter the facial proportions (aesthetics) and improve head
and neck functions (i.e., lip posture, chewing, speech articu­
lation, and breathing) (Fig. 31-3). A formal sleep study is
indicated before surgery to clarify the extent of upper airway
obstruction and the degree of maxillomandibular advance­
ment required to manage it.1,78,80,86,100-102 The orthodontic
treatment may be compromised as a result of poor dental
root formation, congenitally missing teeth, or limited com­
pliance. The coordination of care with an appropriate dental
team (e.g., a restorative dentist, a periodontist, an ortho­
dontist) is useful before the initiation of any treatment.
The correction of the dentofacial deformity and the man­
agement of the airway frequently requires maxillary Le Fort
I osteotomy (horizontal advancement and vertical lengthen­
ing), often with sagittal split ramus osteotomies for align­
ment to the new maxillary position (i.e., advancement but
not setback) and an osseous genioplasty (horizontal advance­
ment and vertical lengthening). Septoplasty and inferior
turbinate reduction should be simultaneously performed if
required to improve nasal airflow (see Chapter 10).
Unfortunately, the numerous adnexal (eyelid) soft-tissue
procedures described in the literature (e.g., lateral cantho­
pexy) in an attempt to normalize the faces of patients with
Down syndrome have mostly proven to be suboptimal.
Neurofibromatosis
Background
In 1849, Robert Smith, a professor of surgery at Dublin
Medical School, reported clinical and necropsy findings in
two cases of individuals who were presumed to have neu­
rofibromatosis; he cited 75 references to similar patients
from the earlier medical literature.130 Unfortunately, he did
not recognize that the tumors (neurofibromas) contained
neural elements. In 1882, von Recklinghausen published
his findings, which convinced the medical world that neu­
rofibromatosis was a distinct entity of neural origin.165
Today, neurofibromatosis is known to be etiologically het­
erogeneous. Cohen and Hayden were the first to differenti­
ate Proteus syndrome from neurofibromatosis in 1979.119,162
Types I and II are the forms that are frequently encountered
by the craniomaxillofacial surgeon.
Neurofibromatosis Type II (Acoustic Type)
The hallmark of Type II neurofibromatosis is the presence
of bilateral acoustic neuromas.147,150 Symptoms are usually
caused by pressure on the vestibulocochlear and facial nerve
complex. The first symptom is usually hearing loss that
often begins during the teenage years or the early 20s.
Occasionally, hearing loss may occur as early as the first
decade or as late as the seventh decade of life. Cafe-au-lait
spots and cutaneous neurofibromas are also present, but
they are seen less frequently than they are among patients
with neurofibromatosis Type I.121 Tumors of the central
nervous system are especially common, with Schwann cell
tumors occurring most frequently. Multiple tumors
of meningeal or glial origin may also occur.147 Neurofibro­
matosis Type II has autosomal dominant inheritance with
penetrance of more than 95%. The responsible gene has
been mapped to chromosome 22.

1272 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
C
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A
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• Figure 31-3  A 16-year-old boy with Down syndrome presented with a jaw deformity and malocclusion. He underwent a
combined orthodontic and surgical approach. The surgery was limited to a Le Fort I osteotomy (horizontal advancement
and vertical lengthening). A, Frontal views before and after reconstruction. B, Profile views before and after reconstruction.
C, Occlusal views before and after reconstruction. Note that the orthodontic and restorative dental objectives were limited
by congenital malformations of the dental crowns and dental roots.

1273
CHAPTER 31  Selected Complex Malformations that Frequently Require Maxillofacial Reconstruction: Evaluation & Treatment
D
E
D
D, Articulated dental casts that indicate analytic model plan­
ning. E, Lateral cephalometric radiographs before and after reconstruction.
• Figure 31-3, cont’d 
Neurofibromatosis Type I (von Recklinghausen Type)
Joseph Merrick, the Elephant Man, has often been thought
to have had von Recklinghausen disease. However, after
considering several diagnostic possibilities, Cohen con­
cluded that Merrick’s skeletal findings are most consistent
with Proteus syndrome.119,130,162
This classic form of neurofibromatosis accounts for
approximately 90% of all affected cases. Major features
include six or more cafe-au-lait spots, cutaneous neurofibro­
mas, and Lisch nodules.130 Axillary freckling develops in
about 66% of all patients. Neurofibromatosis type I, which
is the classic form of neurofibromatosis, is the one described
by von Recklinghausen; it is also the most frequent form,
occurring in 1 of every 2500 to 3000 births.146,160,165,166
Inheritance is autosomal dominant, with almost 100% pen­
etrance. Approximately 50% of cases represent new muta­
tions, and an increase in paternal age at the time of
conception has been found to be an associated feature.
Although most evidence points to neurofibromatosis as a
disorder of neural crest derivation, some controversy remains
about whether the neural and mesenchymal components
are interrelated or if they may arise independent of each
other.110,116,153
Type I is caused by a mutation of the neurofibromin 1
(NF1) gene. Approximately 5% to 20% of all patients with
Type I neurofibromatosis patients carry a heterozygous dele­
tion of approximately 1.5 Mb that involves the NF1 gene
and the contiguous change line in its flanking region.157
Miller and Hall found that patients born to affected mothers
have more severe disease than those born to affected
fathers.152 The mutation rate in the NF1 gene is one of the
highest known in humans, with approximately 50% of all
patients with NF1 presenting with novel mutations.124
The natural history of neurofibromatosis Type I has been
reviewed by several authors.138 More than 40% of patients
have some clinical manifestations at birth, and more than
60% have manifestations by the second year of life. Cafe-
au-lait spots usually develop first, with multiple lesions

1274 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
may be greatly enlarged, and the orbit may be abnormally
shaped. The lateral and infraorbital rims are displaced out­
wardly and inferiorly in addition to being thinned. The
orbital floor is depressed, and the orbital roof and the supra­
orbital rim are elevated. The zygoma is often dysplastic and
inferiorly displaced.
Author’s Approach to Reconstruction in
Patients with Orbitotemporal
Neurofibromatosis
It is recognized that the facial reconstruction of patients
with this condition is often difficult as a result of the mul­
tilevel involvement of the skeleton, the soft tissues, and the
viscera (i.e., brain, eyes, tongue, soft palate, sinus, and
teeth). A basic premise of treatment is to preserve the seeing
eye whenever feasible.114,127,135,136,155,158,159,161 The prevention
of brain injury and the improvement of the tongue, lips,
soft palate, and jaw function are high priorities. Jackson and
colleagues have suggested a classification system for orbito­
temporal neurofibromatosis that they have found useful for
treatment planning139:
1. Orbital soft-tissue involvement with a seeing eye
2. Orbital soft-tissue and significant bony involvement
with a seeing eye
3. Orbital soft-tissue and significant bony involvement
with a blind or absent eye
It has been pointed out by Jackson and others that con­
servative surgical debulking procedures that leave consider­
able amounts of the plexiform neurofibroma leave patients
prone to continued growth and the need for further
surgery.141 Whenever feasible, more complete resection of
the tumor with immediate reconstruction is preferred.
When the temporal–cheek region is extensively involved,
the facial nerve presents an extra challenge. If possible, the
facial nerve is dissected free, the tumor is debulked, and the
soft-tissue flaps are redraped (see Fig. 31-4). When the facial
nerve is extensively infiltrated by a tumor that grotesquely
deforms the face, it may be necessary or preferable to resect
the nerve as part of the debulking procedure. Occasionally
we have used an approach that involves the radical debulk­
ing of the tumor, the planned sacrifice of the involved
facial nerve, and the simultaneous reconstruction of the
cheek–facial nerve defect with a reinnervated free muscle
transfer.
Despite the less than ideal restoration of function
and enhancement of facial aesthetics that is often achieved
with the presenting orbitotemporal, temporal–cheek, and
maxillomandibular neurofibromatosis deformities, patients
and families are generally pleased with the efforts (see Fig.
31-4). Longitudinal computed tomography scanning and
magnetic resonance imaging reassessment are useful to
follow the disease process, because residual neurofibroma­
tosis generally remains, and malignant transformation
may occur.
present within the first year of life. In approximately 50%
of patients, axillary freckling appears later. Cutaneous neu­
rofibromas appear around the onset of puberty and increase
in number throughout life.138 Lisch nodules begin to appear
during early childhood and have been observed in almost
all affected adults. Plexiform neurofibromas occur in 30%
of these patients.
Approximately 33% of all patients develop one or more
complications in association with the disease.105-108,115 It has
been estimated that some form of malignancy develops in
6% of patients with neurofibromatosis type I who are more
than 18 years old.109,117,118 Other important complications
that may occur are neurologic and include epilepsy, aque­
duct stenosis, and spinal neurofibromas. Learning disabili­
ties of various kinds affect 25% of patients.137,154,163
Any part of the eye may be involved.111,126,128,132 Lisch
nodules of various sizes may be found anywhere in the iris.
These lesions are melanocytic hamartomas, and they are
found only in patients with neurofibromatosis. Phakoma,
congenital glaucoma, corneal opacity, detached retina, optic
atrophy, and congenital ptosis of the eyelids have all been
reported. Intraorbital lesions may also produce proptosis
and eye-muscle palsies.
The literature concerning the presenting head and neck
dysmorphology and the suggested treatment of orbitotem­
poral neurofibromatosis is extensive.* The plexiform neuro­
fibroma that involves the orbit, the eyelid, and the temporal
region may also have an intracranial component. It gener­
ally appears during childhood as a swelling of the upper
eyelid, and it slowly and progressively worsens (Fig. 31-4).
Further involvement of the subcutaneous tissues of the
eyelids with varying degrees of ptosis and proptosis of the
globe also occurs. For patients in whom progression con­
tinues, there is further plexiform neurofibromatosis of the
temporal area, pulsating proptosis, continued enlargement
of the eyelids with extensive mechanical ptosis, and the
inability to open the eye, which results in severely dimin­
ished visual acuity or blindness. The globe itself is involved
with neurofibroma, and buphthalmos may be present. The
eye may be painful as a result of infection and epiphora.
The primary skeletal abnormalities associated with type
I neurofibromatosis include long bone dysplasia, sphenoid
wing dysplasia, and scoliosis. The unilateral nature of the
skeletal involvement suggests a random molecular event.
The classic upper face skeletal malformations and deformi­
ties include an absence of the greater wing of the sphenoid
that may be either partial or complete. As part of the sphe­
noid wing malformation, there may be a defect of the
posterolateral orbital wall and enlargement of the superior
orbital fissure with prolapse of the temporal lobe of the
brain into the orbit and the temporal fossa region. This
further pushes the globe anteriorly and inferiorly, and it
may cause pulsatile exophthalmos. The intraorbital volume
*References 112, 113, 120, 122, 123, 125, 129, 131, 133, 134, 139-145,
148, 149, 151, 156, 164, 167

1275
CHAPTER 31  Selected Complex Malformations that Frequently Require Maxillofacial Reconstruction: Evaluation & Treatment
©Elsevier Inc.
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• Figure 31-4  A child with neurofibromatosis involving the left cranio–orbital region. Aplasia of the sphenoid
wing and the gradual growth of plexiform neurofibroma occurred, which extended from the cavernous sinus
through the widened superior orbital fissure, through the cone of the eye, and into the upper eyelid. Despite an
intracranial debulking procedure carried out by another surgeon during the patient’s middle childhood years, the
boy presented to this surgeon with residual and recurrent plexiform neurofibroma that resulted in the distortion
and proptosis of the left eye. Vision remained in the affected eye, and the decision was made to preserve it. The
patient underwent intracranial reconstruction of the cranio–orbito–zygomatic skeleton, including the debulking
of the soft-tissue tumor and the vertical and horizontal debulking of the upper eyelid. Intracranial debulking with
eye presentation was accomplished. A, Frontal view during early childhood and a computed tomography scan
of the anterior skull base indicating the defect in the sphenoid wing. B, Frontal view at 10 years of age. Despite
a debulking procedure carried out by another surgeon, residual growth has reoccurred. An axial computed
tomography scan view through the midorbits indicates the extent of plexiform neurofibromatosis from the cavern­
ous sinus through the upper eyelid.
Continued

1276 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
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C
D
C, Frontal views before and after reconstruction. Note that the surgical cor­
rection of the upper eyelid ptosis was simultaneously carried out but it was limited to maintain adequate
corneal protection. D, Profile views before and after reconstruction.
• Figure 31-4, cont’d 
Hemihyperplasia of the Face
Background
Hemihyperplasia was first described by Meckel in 1822.192
Many comprehensive reviews have been published since
that time.173,174,181,182 In patients with hemihyperplasia, the
enlarged area may run the gamut from a single digit to a
single limb to unilateral facial enlargement to involvement
of half of the body.168-170,179,183,187,189,198,199,203,206-208 In some
patients, the defect is limited to a single tissue type (e.g.,
muscular, vascular, skeletal, nervous system).204
The etiology and pathogenesis of hemihyperplasia are
poorly understood, with a variable range of clinical abnor­
malities having been described.171,175,178 This fact—in
combination with the large number of reported sporadic
cases—is suggestive of etiologic heterogeneity. When the
face is involved, asymmetry is usually evident at birth, and
it may become accentuated or at least more of a concern
with age, especially at puberty.180,188,190,192,196,200-202 The
involved bones have been found to be unilaterally enlarged,
often with accelerated bone age on the affected side. A
variety of non-neoplastic abnormalities of the limbs, teeth,
skin, central nervous system, cardiovascular system, liver,
kidneys, and genitalia have also been observed.
Various neoplasms have been reported in association
with hemihyperplasia, including Wilms tumor, adrenal cor­
tical carcinoma, and hepatoblastoma to name but a
few.172,176,177,184-186,191 In the study by Hoyme and colleagues
of 104 cases of isolated hemihyperplasia, tumors developed

1277
CHAPTER 31  Selected Complex Malformations that Frequently Require Maxillofacial Reconstruction: Evaluation & Treatment
in 3.8% of patients.186 The neoplasms associated with hemi­
hyperplasia have been found to have an embryonal origin.
Patients with hemihyperplasia should be screened with
ultrasound for tumors every 6 months for the first 4 years
of life and probably less frequently thereafter until the age
of 7 years.176,184
Any and all ipsilateral facial structures may be involved,
including the bones of the cranium, the orbit, the zygoma,
the maxilla, and the mandible.193-195 Premature develop­
ment and eruption of the teeth occur, as does macrodontia
of varying degrees. Unilateral enlargement of the tongue
and its papillae is also a frequently observed feature. The
overall facial soft tissues are increased in thickness, size, and
volume. The eyeball and even the brain may be enlarged on
the affected side.
Hemihyperplasia of the face should be distinguished
from hemimandibular hyperplasia (HMH), which is a
three-dimensional enlargement of the whole hemimandible
but not of the other facial structures.193-195 Furthermore, in
patients with HMH, no other aspects of the body are
enlarged, and no predisposition to tumors has been identi­
fied. HMH was first reported by Adams in 1836.182 Epide­
miologic data suggest that there is equal incidence of HMH
in both sexes and in all ethnic groups. Obwegeser drew
the distinction between HMH and hemimandibular
elongation.193-195 He also clearly differentiated these condi­
tions from hemihyperplasia of the face (see Chapter 22).
Author’s Approach to Reconstruction in
Patients with Hemihyperplasia
Procedures to improve facial symmetry and Euclidian pro­
portions for the individual with hemihyperplasia of the face
are offered when feasible (Fig. 31-5).197 Overzealous attempts
to debulk the soft-tissue enlargement (e.g., resection of the
parotid gland, resection or liposuction of the deep layer soft
tissues of the cheek) may result in damage to the facial nerve
or introduce an “operated” look and are thus generally
discouraged.205 Surgery should be directed at regions and
tissue layers that are most amenable to safe improvement.
Orthodontic treatment in combination with orthognathic
surgery is often a fruitful approach. A maxillary Le Fort I
osteotomy to bring the maxillary dental midline back to the
facial midline; to correct canting; and to adjust the vertical
dimension, horizontal projection, and arch width is fre­
quently useful. This is combined with bilateral sagittal split
ramus osteotomies of the mandible to reposition the jaw
and also to recontour the inferior border. An oblique oste­
otomy of the chin for repositioning and also to recontour
the inferior border is carried out (see Fig. 31-5).
Vascular Malformations
Background
Vascular anomalies fall into two groups: hemangiomas and
vascular malformations. Mulliken and Glowacki were the
first to clarify a biologic classification of vascular anomalies
on the basis of endothelial properties.226,231,232 Those authors
described how hemangiomas have a proliferative endothe­
lium whereas vascular malformations have a stable endothe­
lium.218 Hemangiomas have a natural history that is
characterized by initial proliferation, stability, and then at
least partial involution (Figs. 31-6 and 31-7). Vascular mal­
formations are present at birth, although they may not be
clinically evident until sometime later during childhood. In
general, vascular malformations grow commensurately with
the child, but they may expand suddenly as a result of
trauma, infection, or hormonal influences (Figs. 31-8
through 31-11). Vascular malformations generally occur
sporadically, although inherited autosomal dominant enti­
ties do exist. The International Society for the Study of
Vascular Anomalies classification system is based on Mul­
liken and Glowacki’s work.226 Vascular tumors include
hemangiomas, Kaposiform hemangioendotheliomas, tufted
angiomas, pyogenic granulomas, and hemangiopericyto­
mas. Vascular malformations include capillary, venous, lym­
phatic, and arteriovenous conditions; malformations can
also be mixed and include combinations of these. From a
clinical perspective, it is useful to think in terms of the flow
characteristics of the malformations (i.e., either slow flow
or fast flow) and the type of vessel drainage.213-215,217,223-228
Complications from vascular malformations include
venostasis, ischemia, coagulopathy, disseminated intravas­
cular coagulopathy, heart failure, and even death.209 Skeletal
anomalies can occur as a result of intraosseous involvement,
skeletal expansion, or skeletal compression (erosion). Any
head and neck function can be affected by the presence of
a vascular anomaly’s tumor-like mass.
The diagnostic imaging of vascular malformations pri­
marily relies on radiographic modalities.212 Phleboliths are
generally pathognomonic for venous malformations. Color
Doppler ultrasound is an invaluable tool for the assessment
of blood flow velocities and patterns of vascular lesions.
Computed tomography plays an important role in the
understanding of skeletal involvement. Magnetic resonance
imaging is a useful non-invasive and non-ionizing test for
the accurate depiction of soft-tissue relationships and allows
slow-flow malformations to be accurately differentiated
from high-flow malformations. Angiography and venogra­
phy can play important diagnostic and therapeutic roles in
the management of specific vascular malformations. Advan­
tages of venography include the clarification of lesion size
and extent and of venous drainage patterns. Angiography
can clarify arteriovenous shunting, the presence of macro­
fistulae and microfistulae, and the location of the lesion’s
nidus. Therapeutic embolization via angiography with the
use of particular materials or coils can be carried out.
Lymphatic Malformations
Lymphatic
malformations
are
slow-flow
anoma­
lies.223,225,226,228 Macrocystic lesions are easier to deal with
than microcysts. Microcystic lesions do not resolve

1278 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
©Elsevier Inc.
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©Elsevier Inc.
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©Elsevier Inc.
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©Elsevier Inc.
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A
B
• Figure 31-5  A 16-year-old girl with left hemihyperplasia of the face that affects both the soft
tissues and the skeletal structures. There were distortions of the maxilla and the mandible that
were treated through a combined orthodontic and surgical approach. The patient underwent
a Le Fort I osteotomy (vertical intrusion and improvement of canting and asymmetry), bilateral
sagittal split ramus osteotomies (improvement of asymmetry), and an osseous genioplasty
(vertical reduction and horizontal advancement). Note that improvements in the facial skeleton
were possible but that the soft-tissue fullness remains. A, Frontal views before and after recon­
struction. B, Profile views before and after reconstruction.

1279
CHAPTER 31  Selected Complex Malformations that Frequently Require Maxillofacial Reconstruction: Evaluation & Treatment
D
©Elsevier Inc.
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©Elsevier Inc.
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C
C, Worm’s-eye views before and after reconstruction confirm residual soft-tissue fullness. D, Occlusal
views before and after reconstruction. Note: Maxillo-mandibular reconstruction does not address the soft tissue enlargement.
• Figure 31-5, cont’d 
spontaneously, and they are often harder to manage surgi­
cally as a result of their close integration within the normal
head and neck soft tissues that must be preserved. Only half
of lymphatic lesions are recognized at birth, but the major­
ity are evident by approximately 2 years of age. Skeletal and
soft-tissue overgrowth are typical in the craniomaxillofacial
region. Cervicofacial lymphatic malformations tend to
present with skeletal distortions (e.g., mandibular over­
growth, malocclusion). There may be intraosseous involve­
ment, but skeletal expansion and erosion (remodeling) as a
result of mass effect are typical. Symptoms of localized
swelling, pain, and erythema associated with infection are
common. Significant complications include intralesional
bleeding and infection that are often associated with rapid
expansion and then moderate regression. Rapid swelling can
lead to airway obstruction. Macrocysts may undergo invo­
lution if they are ruptured by trauma, or they may be treated
via the injection of sclerosing agents or aspiration. However,
surgical removal should be considered, when feasible.
Complete resection is seldom possible because lymphatic
malformations often surround and incorporate normal
anatomy that is not deemed appropriate for resection
(see Figs. 31-8 and 31-9).220-222,229,230 Orthognathic proce­
dures would frequently be beneficial but are not often
carried out.
Venous Malformations
Venous malformations are the most common form seen in
the head and neck region.223,225,226,228 They are present at the
time of birth, but they may not have been recognized, or
they may have been misdiagnosed.210,219 Histologically, they
are composed of variably sized, thickened, dilated, spongy
channels that are devoid of smooth muscle and lined by
endothelial cells. Clinically, they are compressible subcuta­
neous masses that are often deep blue in color. They
generally grow commensurate with the child but, as with
lymphatic malformations, trauma, infection, and hormonal

1280 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
• Figure 31-6  A 5-year-old boy with a hemangioma that involves the soft tissues of the forehead
and the upper nose (glabella region) is shown before and 2 years after undergoing a direct vertical
midline excision. Note that the soft-tissue growth did not significantly resorb (compress) the underlying
skeleton. A, Frontal views before and 4 years after reconstruction. B, Oblique views before and 4
years after reconstruction.
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C Pos
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B
changes can cause rapid expansion. Venous malformations
can involve any tissue layer (i.e., skin, mucosa, muscle,
brain, bone, or viscera). Thrombosis within the malforma­
tion commonly leads to phlebolith formation. When
present, phleboliths are pathognomonic and assist with the
accurate diagnosis. Venous malformations are usually uni­
lateral and result in significant facial asymmetry and dys­
function. They may affect speech, swallowing, chewing,
breathing, vision, hearing, cognition, and jaw or neck range
of motion. They may be intraosseous or have secondary
effects on the bone (i.e., expansion, remodeling, or resorp­
tion). Treatment to reduce the size of venous malformations
includes the injection of sclerosing agents in an attempt to
damage the endothelial cells via intravascular thrombosis
and fibrosis as well as partial surgical excision (see Figs.
31-8, 31-9, and 31-10).220,221,222,229
Arteriovenous Malformations
Arteriovenous malformations are high-flow malformations
with a direct connection between an artery and a vein, with
no intervening capillary bed.223,225,226,228 These malforma­
tions are also present at birth, but they may have gone
unrecognized or have been misdiagnosed as a more

1281
CHAPTER 31  Selected Complex Malformations that Frequently Require Maxillofacial Reconstruction: Evaluation & Treatment
C
©Elsevier Inc.
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©Elsevier Inc.
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©Elsevier Inc.
Or
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©Elsevier Inc.
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C.
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C.
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C.
C.
C.
C.
C.
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©Elsevier Inc.
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©Elsevier Inc.
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g atatatatatatathicicicicicicicicicic Su
Su
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Surg
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C.
C.
C.
C.
C Pos
os
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A
B
• Figure 31-7  A 5-year-old boy with a hem­
angioma that involves the soft tissues of the
tip of the nose. He is shown before and after
undergoing surgical debulking through a
columella-splitting open rhinoplasty technique.
The soft-tissue growth displaced but did not
destroy the lower lateral cartilages (LLC) or
septum; the LLC were reconstructed with the
use of a suture pexy technique after tumor
debulking. A, Frontal views before and after
reconstruction. B, Profile views before and
after reconstruction. C, Worm’s-eye views
before and after reconstruction.

1282 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
• Figure 31-8  A newborn child with a massive low-flow mixed (lymphatic–venous) vascular malformation that involved the right side of the face,
neck, chest wall, upper arm, and upper back. The malformation was recognized through ultrasonic evaluation during fetal development, and the
child was delivered by Cesarean section with a good airway. At 6 weeks of age, he underwent a planned single staged surgical debulking pro­
cedure. He retains good cranial nerve and brachial plexus function. Portions of the sternocleidomastoid, trapezius, and platysma muscles were
sacrificed in the process. No significant deformation of the craniofacial skeleton resulted. A, Frontal facial views before surgery, at 7 months of
age, and then at 5 years after resection. B, Posterior facial views before surgery, at 7 months of age, and then 5 years after resection. The patient
is shown with both arms extended, which indicates satisfactory neuromotor control.
©Elsevier Inc.
Or
Or
O thth
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Su
Su
Su
Su
Su
Su
Su
Surg
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ry
ry
ry
ry
ry
ry; J.C.
C.
C.
C.
C.
C.
C.
C.
C Pos
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©Elsevier Inc.
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Or
Orththththtr ogn
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Su
S rg
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C.
C.
C.
C.
C.
C.
C.
C.
C Pos
osnicicicicicicicicicicicick
©Elsevier Inc.
Or
Or
O thth
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gn
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Su
Su
Su
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Su
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Su
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Su
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Surg
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ry
ry
ry
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ry
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ry; J.C.
C.
C Posnick
©Elsevier Inc.
Or
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Or
Or
Or hththththththththththththththththththththththththththththththththtr ogn
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g atatatatatatatatatatathicicicicicicicicicicicicicicicicicicicicicic Su
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Su
Su
Su
Su
Su
S r
u g
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ry
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C.
C.
C.
C Pos
os
os
os
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os
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A
B
straightforward hemangioma. The confirmation of clinical
diagnosis is helpful with color Doppler examination, which
can determine flow rate, volume, and reversal of flow. Mag­
netic resonance imaging can determine the extent of the
lesion and its relationship with the surrounding anatomy.
Angiography can further clarify the lesion and be used for
the therapeutic embolization of an arteriovenous malforma­
tions. If an arteriovenous malformation is well localized and
can be reliably excised with satisfactory reconstruction, this
is always a first choice (see Fig. 31-11). Unfortunately,
larger, more extensive lesions are not surgically resectable.
Superselective embolization performed by an experienced
interventional radiologist with the placement of an ablative
agent (e.g., absolute alcohol, sodium tetradecyl sulfate) to
induce the destruction of the endothelium may be useful.
Embolization that involves coils or particles is another tech­
nique for temporarily occluding flow. The ligation of feeding
vessels or proximal embolization is generally avoided,
because rapid collateralization tends to occur.220,221,222,229
Capillary Malformations
Capillary malformations, which were previously referred to
as port-wine stains, are intradermal vascular anoma­
lies.223,225,226,228 They occur in less than 1% of newborns, and
they have an equal distribution in male and female indi­
viduals.216 They typically present as either pink or red cuta­
neous discolorations. They have a tendency to darken,
thicken, and become nodular with age. Several conditions
are associated with capillary malformations, including
Sturge–Weber syndrome, which presents with capillary
malformations in the trigeminal nerve distribution in com­
bination with vascular anomalies of the leptomeninges,
Text continued on p. 1288

1283
CHAPTER 31  Selected Complex Malformations that Frequently Require Maxillofacial Reconstruction: Evaluation & Treatment
• Figure 31-9  A child was born with a massive mixed low-flow (venous–lymphatic) vascular malformation of both sides of the neck and the floor
of the mouth. He is shown before and after single staged surgical debulking through a bilateral neck (apron) incision. With debulking of the mass,
a tracheostomy could be placed to improve oxygenation. Note that the postoperative residual venous engorgement of the tongue remains
problematic. Severe deformities of the maxillomandibular skeleton are expected. A, Frontal views before and after debulking and tracheostomy.
B, Oblique views before and after surgery.
Orth
r ognathic Sur
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r ery; J.C. Posnick
Orth
r ognathic Sur
u g
r ery; J.C. Posnick
Orth
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r ery; J.C. Posnick
Orth
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A
B

1284 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
A
B
Orth
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u g
r ery; J.C. Posnick
Orth
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Orth
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u g
r ery; J.C. Posnick
Orth
r ognathic Sur
u g
r ery; J.C. Posnick
• Figure 31-10  A child who was born with a massive low-flow (venous) vascular malformation that involved the left side of the face underwent
single staged resection/reconstruction when she was 6 months old. She is shown before and 1 year after surgical debulking, with facial nerve
preservation carried out through a preauricular and coronal scalp incision. A degree of temporal bone compression resulted from the tumor mass.
A, Frontal views before and after debulking and reconstruction. B, Oblique views before and after reconstruction.

1285
CHAPTER 31  Selected Complex Malformations that Frequently Require Maxillofacial Reconstruction: Evaluation & Treatment
Or
Orththththth
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Su
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C.
C.
C.
C.
C Pos
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C
D
E
L
C, Profile views before and after reconstruction. D, Posterior views before and after recon­
struction. Note that the external ear was repositioned after the tumor was resected. E, Preoperative radiographic studies
are shown. A magnetic resonance image and a computed tomography scan demonstrate the vascular malformations
of the left face and orbit.
• Figure 31-10, cont’d

1286 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
B
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C.
C.
C.
C.
C.
C.
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C.
C.
C.
C.
C.
C.
C.
C.
C.
C.
C.
C. Pos
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A
• Figure 31-11  A 6-year-old girl had a high-flow (arteriovenous) vascular malformation that involved the left mandible.
She had suffered multiple bleeding episodes before and after embolization and the direct injection of “glue” into the
medullary cavity of the left mandible. She is shown before and 2 years after the surgical excision of the left mandible
and associated soft tissues with immediate reconstruction involving a vascularized fibula bone flap. A, Profile view
before surgery with bandage covering the chronic fistula tract. Preoperative Panorex radiographs before and after
direct (glue) injection into the medullary cavity of the mandible. B, Involved left body–ascending ramus of the mandible
excised as a specimen. Intraoral view of the mandible after resection and specimen removal is shown. C, View of
autogenous fibular bone flap just before and after placement into the mandibular defect. Extended miniplates are
attached to the graft and then secured to the native mandible. The vessels were then anastomosed for
revascularization.

1287
CHAPTER 31  Selected Complex Malformations that Frequently Require Maxillofacial Reconstruction: Evaluation & Treatment
E
©Elsevier Inc.
Or
Or
Or
Or
O thththth
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Su
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C.
C.
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©Elsevier Inc.
Or
Or
Or
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O thththth
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Surg
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C.
C Pos
os
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osnicicicicicicicick
D
D, Frontal views 2 years after excision and immediate reconstruction demonstrating satisfac­
tory mouth opening, good facial symmetry, and facial nerve function. Occlusal view after reconstruction. E, Anteropos­
terior and Panorex facial radiographs after reconstruction. A (photo), B (right), C (right), D (top), From Posnick JC, Wells
MD, Zuker RM: Use of the free fibula flap in the immediate reconstruction of pediatric mandibular tumors: report of
cases, J Oral Maxillofac Surg 51:189–196, 1993.
• Figure 31-11, cont’d

1288 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
located on the long arm (Q) of chromosome 22.235,243 The
microdeletion is known to cause an abnormality of mor­
phogenesis that affects the migration of the neural crest cells
and therefore the early development of branchial arches. In
approximately 90% of affected individuals, the disorder
occurs as a result of a new mutation. In the other 10% of
cases, the disorder is inherited from a parent in an autoso­
mal dominant fashion. Affected individuals have a 50%
chance of passing VCSF to each offspring.244
Epidemiology
The prevalence of VCFS is the United States is approxi­
mately 1 in 2000 live births. Internationally, the syndrome
occurs in 1 in 4000 live births. The frequency of VCFS in
newborns with isolated cleft palate is approximately 8%.
There seems to be no gender predilection. The syndrome is
present at birth, but it is often unrecognized until childhood
or later.237 Although the heart defect or the cleft palate is
generally detected soon after birth, the learning disorders
and psychiatric illnesses may not become apparent until the
school-aged years.236 Even then the correct diagnosis is not
always made.
DiGeorge syndrome, which involves a total absence of
the thymus and a severe T-cell immunodeficiency, is found
in less than 0.5% of patients with VCFS.236,241,245 Most
affected individuals have only partial defects, with impaired
thymic development and variable defects in their T-cell
numbers.
Author’s Approach to Reconstruction
in Patients with Velocardiofacial
Syndrome
Evaluation by clinicians who have experience with clefting
usually centers around the issue of hypernasal speech and
whether or not a palatal procedure is indicated. Concern
about the location of the carotid arteries (when considering
the use of a pharyngeal flap) is always part of the
discussion.246
A percentage of teenagers with VCFS will present with
a jaw deformity and malocclusion. These patients will
benefit from a comprehensive orthodontic and surgical
approach. They generally have a long face growth pattern
(see Chapter 21) and require osteotomies of the maxilla, the
mandible, and the chin region (Fig. 31-12).
Conclusions
Many hundreds of syndromes and anomalies produce a
spectrum of head and neck dysfunction and facial dispro­
portion within the maxillofacial region. Each syndrome
type and its presenting set of anomalies will be unique, with
individual variations that must considered.
often with a seizure disorder, developmental delay, and eye
involvement (i.e., glaucoma and retinal detachment).211
Proteus syndrome may also be associated with cutaneous
vascular malformations.215 When feasible, the treatment of
capillary malformations with a pulsed dye laser should be
considered.
Velocardiofacial Syndrome
Background
Velocardiofacial syndrome (VCFS) is a genetic condition
that is characterized by abnormal pharyngeal arch develop­
ment that results in defective development of the thymus,
the parathyroid glands, and the conotruncal region of
the heart. Shprintzen and colleagues first described this
syndrome in1978.249 Since then, almost 200 different
individual clinical features have been associated with
VCFS.233,240,247 No single individual has been found to have
all of the described features. Affected individuals will present
with unique facial features, and they may also have cardiac
defects, palatal abnormalities, hypernasal speech, hypoto­
nia, defective thymic development, and a variety of learning
disabilities.248
Approximately 75% of individuals with VCFS have
cardiac anomalies. The cardiac defects are usually of the
conotruncal type.234,242 The most common variations
include an interrupted aortic arch (50%), truncus arteriosus
(35%), and tetralogy of Fallot (16%). Palatal abnormalities
predispose these individuals to speech difficulties. Defective
thymic development is associated with impaired immune
function. Learning disabilities include overt developmental
delay, psychiatric disorders, and musculoskeletal defects.238
Interestingly, ophthalmologic abnormalities occur in
approximately 70% of individuals with VCFS; these may
include bilateral cataracts, tortuous retinal vessels, and small
optic discs.
Approximately 10% of individuals with VCFS will have
DiGeorge syndrome, which consists of at least two of the
three following features239:
1. Thymic aplasia (immune deficiency)
2. Hypoparathyroidism (hypocalcemia)
3. Conotruncal cardiac anomalies
Approximately 15% to 20% of patients with VCFS will
be born with Pierre Robin sequence (see Chapter 4). Many
individuals are mistakenly categorized as having CHARGE
syndrome.
Pathophysiology
VCFS is now known to be a congenital disorder that is
caused by a microdeletion at the Q11.2 band, which is

1289
CHAPTER 31  Selected Complex Malformations that Frequently Require Maxillofacial Reconstruction: Evaluation & Treatment
Orth
r ognathic Sur
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Orth
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Orth
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Orth
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A
B
• Figure 31-12  A 14-year-old girl who was born with velocardiofacial syndrome. She had mild learning disabilities, an adequately functioning
velopharyngeal valve, and mild sibilant distortions with articulation as a result of malocclusion. She had a long face growth pattern that included a
skeletal Class II anterior open-bite malocclusion. She underwent orthodontic treatment that included four bicuspid extractions and orthognathic
surgery. The patient’s procedures included Le Fort I osteotomy (anterior vertical intrusion with counterclockwise rotation) and bilateral sagittal split
ramus osteotomies (horizontal advancement with counterclockwise rotation). A, Frontal views in repose before and after reconstruction. B, Frontal
views with smile before and after reconstruction.
Continued