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

797
Treatment/surgical technique
maxillary teeth on the affected side. Age and stage of dental
development are the key factors in determining which orth­
odontic therapies are most appropriate for the patient.
Combination of treatments
In the setting of mandibular reconstruction with rib graft of
type 2B and 3 hypoplastic mandibles, distraction osteogenesis
is a useful tool to use if the costochondral graft does not grow
sufficiently. The use of distraction in conjunction with costo­
chondral rib grafting has been described in various reports in
the literature.98,125–129 The high complication rate (62.5%) ini­
tially reported by Corcoran et al.125 in their series of 8 patients
and a high nonunion rate (33%) reported by Stelnicki et al.126
seems to be attributed to the fact that their initial distraction
osteotomy was performed across the grafted rib. Wan and the
UCLA group129 recently published their series of 17 cases of
mandibular reconstruction with costochondral rib grafting in
conjunction with mandibular distraction. Mandibular distrac­
tion was performed at the three possible locations: within the
native mandible (n = 4, 25%), at the mandible–rib graft junc­
tion (n = 3, 19%) and within the rib graft (n = 9, 56%). They
reported a significantly higher complication rate in patients
who underwent distraction at the mandible–graft junction.
There was only one complication noted at each of the two
other sites of distraction, while all cases of distraction at the
mandibular–rib junction had complications. The difference in
the embryology of the rib graft (endochondral ossification)
and the mandible (intramembranous ossification) creating
some form of instability at their junction was the hypothesis
raised by Bradley et al.129
The authors recommend that the distraction osteotomy be
performed at the level of the native mandible, slightly mesial
abutting the base of the skull. An expected overlap of the
caudal portion of the rib graft and the mandible is observed.
The graft is then fashioned to allow maximal overlap with the
mandible and fixated caudally using two or three 1.5 or
2.0 mm titanium screws with single-hole plates (Fig. 34.19).
These serve as washers of broad contact area, which limits
splitting and damage of the rib bone. Maximal bone-to-bone
contact is secured to facilitate osteosynthesis, allowing early
loading at 3 weeks postoperatively.
The donor and recipient sites are then irrigated and closed
in layers. Patients remain in MMF for 3 weeks at which time
they are released in the operating room and tested for graft
stability. They are then started on an active range of motion
protocol, which includes regular food, soft in texture. Physio­
therapy may be advised.
Timing: The authors recommend, when feasible, to perform
this procedure in patients older than 5 year of age. The quality
of the rib graft in patients less than 5 years of age is subopti­
mal; the rib graft may be very small and thin, thus increasing
the risk of splitting and poor fixation.
Postoperative orthodonture
The technique presented here inherently creates a posterior
open bite on the affected/reconstructed side. The mandibular
reconstruction levels the mandibular cant and corrects its
position, but the maxillary cant remains secondary to prior
vertical growth inhibition by the pathologic mandible. Careful
orthodontic management to postoperatively close the poste­
rior open bite is critical to the success of the procedure and
restoration of functional occlusion. In this phase, the authors
orthodontically correct the maxillary occlusal cant via vertical
elongation of the affected side while maintaining the leveled
mandibular occlusal plane. Several techniques have been
described for how to achieve these goals. Interarch elastics in
conjunction with fixed orthodontic appliances,119–124 tempo­
rary anchorage devices,120,121 and/or occlusal splints121–123 have
all been used in this series for selectively extruding the
Fig. 34.18  Costochondral rib graft harvested from the ipsilateral 6th or 7th rib. The
perichondrium is preserved for approximately 1 to 1.5 cm of the osteocartilaginous
junction. The head of the rib graft is then rounded off with a knife to give it the
desired dimension (approx. 0.5 cm).
Fig. 34.19  With the mandible forward and down as much as allowed by the
contralateral temporomandibular joint and local soft tissues, the rib construct is
placed in position, abutting the base of the skull. An expected overlap of the caudal
portion of the rib graft and the mandible is observed. The graft is then trimmed to
length to allow maximal overlap with the mandible and fixated caudally using two or
three 1.5 or 2.0 mm titanium screws with single-hole plates. These serve as
washers of broad contact area, which limits splitting and damage of the rib bone.
Maximal bone-to-bone contact is then secured to facilitate osteosynthesis, allowing
early loading at 3 weeks postoperatively.

798
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CHAPTER 34 • Craniofacial microsomia
to the mandibular–rib graft junction. One may say that, in
some cases, the mandibular–rib graft junction may be imper­
ceptible due to union; thus, efforts should still be made to
perform distraction at a site mesial to the junction. The results
of a previous study published by Tahiri et al. demonstrated
that distraction osteogenesis was successful at correcting the
mandibular asymmetry in cases where the rib grafting may
be insufficient in the long term because of inadequate growth
of the rib or bone graft resorption (Fig. 34.20).
Orbital reconstruction
Orbital reconstruction in patients with CFM typically involves
either bony or soft-tissue surgery. Stimulation of the visual
cortex in infants to avoid amblyopia is of prime importance.
Moreover, epibulbar dermoids and eyelid colobomas may
require treatment to prevent disruption of the visual axis and
protection of the cornea, respectively.130,131 Early protection of
the cornea can prevent exposure keratitis.
Typically, orbital bony reconstruction for asymmetry is
corrected only if severe and typically is postponed until the
orbital growth is complete, which is approximately at age 4
or 5 years. Orbital repositioning can be approached simply
with a simple split calvarial bone graft or in more severely
asymmetric cases with a 4-wall box osteotomy performed via
an intracranial approach. The orbital box can be mobilized in
various directions and then fixated into a symmetric position
with the contralateral orbit. Cranial surgery can also be per­
formed simultaneously if needed. Such cases are, however,
infrequent.
Soft-tissue reconstruction
The reconstructive techniques described below can be used
for a patient with a soft-tissue deficiency in isolation or with
underlying bony asymmetry.
Fat grafting
Structural fat grafting has revolutionized the way many
conditions are treated, including CFM.132,133 This technique
requires (1) fat harvest from the abdomen, flanks, thighs, or
buttocks, (2) purification, and then (3) injection of small ali­
quots (<0.1 cc) in multiple planes within the areas of facial
deficiency. The benefits of fat injection are precision of deliv­
ery, minimal scarring, and minimal donor-site morbidity.
Additionally, the small aliquots do not disrupt the connecting
ligaments of the face, so the fat is less likely to droop or
disrupt normal facial movement. Some report improvement
in the texture and appearance of the overlying skin. The
downside of this technique is resorption. One can expect 30
to 80% of the injected fat to resorb depending on location. This
necessitates multiple fat grafting procedures. It is preferable
to coordinate fat injection procedures with other procedures
throughout childhood to minimize recovery and provide
improvement in facial symmetry during the developmental
years of school age and adolescence.
Microvascular free flap
An adipofascial free flap is the best way to provide a large
amount of soft tissue in a single surgical procedure for patients
with severe deficiencies.134,135 Free flap selection includes
scapular, parascapular,136 groin,137,138 omentum,139 anterolateral
thigh (ALT),140 and deep inferior epigastric perforator (DIEP),
among others. Because adipofascial free flap transfer can
provide such augmentation, it may be necessary to follow this
with a debulking procedure.141 Other drawbacks include
donor-site morbidity and scarring, length of procedure, and
the need for microsurgical skills. This approach is generally
performed after the skeletal anomalies of CFM have been
corrected.
Dermal fat graft
A dermal fat graft is another way of providing some soft
tissue in a single surgical procedure for patients with mild to
moderate deficiencies. However, dermal fat grafts are some­
what prone to resorption and may need additional augmenta­
tion procedures.141
Auricular reconstruction
Ear reconstruction will vary based on the severity of the
deformity. When faced with only a mild effacement of the
auricular architecture with mild hypoplasia of the ear with all
auricular structures being present (E1), surgical treatment
involves cartilage folding, scoring, or weakening techniques
to restore normal shape and anatomy.142 On the other hand,
when the hypoplasia is more severe (E2 and E3), an auricular
reconstruction with a new framework is created in either an
autologous fashion or alloplastic fashion.
Autogenous reconstruction
Autologous reconstruction involves the use of the patient’s
own rib cartilage to create the new auricular framework. The
procedure includes the harvest of the costal cartilage grafts,
the carving of the framework, placement of the graft, trans­
position of the lobule, and the creation of a postauricular
sulcus.143–153
Burt Brent154 described a four-stage approach, which has
been modified to three stages using costal cartilage grafts
from the contralateral synchondrosis of ribs 6 and 7 and the
cartilage of rib 8.149 Stage 1 is performed after age 6 years
when the ear has reached 85% of its adult size and adequate
cartilage is available.155 The rim of the 6th rib is preserved to
minimize the chest wall deformity. A crescent of cartilage is
banked in the scalp in a position posterior to the reconstructed
ear to be used later as a “wedge” cartilage. A template is
traced from the contralateral ear and a pocket is dissected to
place the framework in harmony with facial features and
symmetrically with the opposite ear. The plane of dissection
of the pocket is between subdermal plexus and temporopari­
etal fascia. The position of new ear is made symmetrical with
the opposite side using the lateral canthus, alar rim, and oral
commissure as landmarks. Remnant cartilage is discarded.
Stage 2 involves lobule transposition and the surgeon creates
a postauricular sulcus with the “wedge” cartilage, a scalp
advancement, and use of a skin graft in stage 3.
On the other hand, the Nagata technique involves a two-
stage approach.145–148,156 Patients are not generally treated until
age 10 years and with a chest circumference of at least 60 cm
to ensure adequate cartilage is present for an adult-sized
construct. Cartilage from ipsilateral ribs 6, 7, 8, and 9 are har­
vested in the subperichondrial plane to allow regrowth and

799
Treatment/surgical technique
Fig. 34.20  3D CT scans of 5 12-year-old boy with left CFM and type 3A mandibular deformity. He underwent first costochondral grafting for the ramus reconstruction. Due
to the lack of growth of the graft, he underwent successfully unilateral mandibular distraction osteogenesis (DO). (A) Preoperative AP view. (B) Preoperative left lateral view.
(C) Preoperative worm’s eye view. (D) AP view following costochondral rib grafting. (E) Left lateral view following costochondral rib grafting. (F) Worm’s eye view following
costochondral rib grafting. (G) AP view following DO. (H) Left lateral view following DO. (I) Worm’s eye view following DO.
A
B
C
D
E
F
G
H
I

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CHAPTER 34 • Craniofacial microsomia
with acceptable morbidity and is to be recommended.158 It is
available in two prefabricated constructs of various sizes,
which can be matched to the contralateral ear, secured, and
covered with a temporoparietal fascia flap followed by skin
grafts. Benefits include rigidity of construct, lack of donor site
morbidity, and the ability to reconstruct younger, smaller
patients. Criticisms include extrusion and infection, though
some report none of these problems.158,159,161
Conclusion
The phenotypic expression of craniofacial microsomia relates
to the complex, three-dimensional deformity of the underly­
ing craniofacial skeleton. Patients with CFM may display
airway obstruction, feeding difficulties, malocclusion, visual
impairment, hearing disorders, speech and language delays,
and socialization challenges because of their craniofacial
anomalies. For these reason, patients with CFM often require
complex, multidisciplinary, staged treatment plans.
minimize donor-site deformity. In stage 1, a three-dimensional
construct is carved, placed, and the lobule is then transposed.
Nagata’s framework already incorporates the tragus, thereby
eliminating another stage. Cartilage from the 6th and 7th costal
cartilage is used for the base frame, the 8th costal cartilage is
used for the helix and the crus helicis, while the 9th costal
cartilage is used for the superior and inferior crus as well as
the antihelix. Stage 2 involves ear elevation and creation of
auriculocephalic sulcus. In this stage, the construct is elevated
using a cartilage graft wrapped in temporoparietal fascia.
This is generally covered with a split skin graft taken from
the scalp.
Alloplastic reconstruction
Various materials have been used for alloplastic ear recon­
struction with mixed results.157–161 Porous polyethylene’s inert
nature and pore size provides the best safety profile and
allows for some tissue ingrowth. John Reinisch popularized
this technique. He has provided good long-term follow-up
3. Murray JE, Kaban LB, Mulliken JB. Analysis and treatment of
hemifacial microsomia. Plast Reconstr Surg. 1984;74:186–199.
6. Poswillo D. The pathogenesis of the first and second branchial
arch syndrome. Oral Surg Oral Med Oral Pathol. 1973;35:302–328.
34. Pruzansky S. Not all dwarfed mandibles are alike. Birth Defects.
1969;1:120–129.
41. Vento AR, LaBrie RA, Mulliken JB. The O.M.E.N.S. classification of
hemifacial microsomia. Cleft Palate Craniofac J. 1991;28:68–76.
70. Polley JW, Figueroa AA, Liou EJ, Cohen M. Longitudinal analysis
of mandibular asymmetry in hemifacial microsomia. Plast Reconstr
Surg. 1997;99:328–339.
79. Gougoutas AJ, Singh DJ, Low DW, Bartlett SP. Hemifacial
microsomia: clinical features and pictographic representations of
the OMENS classification system. Plast Reconstr Surg. 2007;120:
112e–120e.
83. Wink JD, Goldstein JA, Paliga JT, et al. The mandibular deformity
in hemifacial microsomia: a reassessment of the Pruzansky and
Kaban classification. Plast Reconstr Surg. 2014;133:174e–181e.
95. Tahiri Y, Chang C, Tuin J, et al. Costochondral grafting in
craniofacial microsomia. Plast Reconstr Surg. 2015;135:530–541.
99. McCarthy JG, Schreiber J, Karp N, et al. Lengthening the human
mandible by gradual distraction. Plast Reconstr Surg. 1992;89:1–8,
discussion 9.
126. Stelnicki EJ, Hollier L, Lee C, et al. Distraction osteogenesis of
costochondral bone grafts in the mandible. Plast Reconstr Surg.
2002;109:925–933, discussion 934–935.
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800.e1
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800.e4
SECTION II
CHAPTER 34 • Craniofacial microsomia
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156. Nagata S. A new method of total reconstruction of the auricle for
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159. Wellisz T. Clinical experience with the Medpor porous
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reconstruction. Aesthetic Plast Surg. 2009;33:518–522.

SECTION II • Craniofacial
35 
Hemifacial atrophy
Peter J. Taub, Kathryn S. Torok, and Lindsay A. Schuster
SYNOPSIS
■ Initially described in the writings of Dr. Caleb Hillier Parry.
■ Exact etiology of PHA is not well understood, but is felt to have a
strong autoimmune and neurogenic component.
■ The initial clinical manifestations include both cutaneous findings and
subcutaneous atrophy.
■ Other forms of lipoatrophy are usually not localized to the face.
■ The surgical treatment options currently offer the largest amount of
tissue with excellent safety.
■ Secondary procedures should be part of every treatment protocol.
Access the Historical Perspective section online at

Introduction
Idiopathic progressive hemifacial atrophy (PHA), also termed
Parry–Romberg syndrome, occurs in school-aged children
with a slight female and no racial predominance.19,20 PHA is
typically characterized by slow progressive unilateral atrophy
of the skin and soft tissue of the face, with deeper involvement
of the underlying muscles and osteocartilaginous structures
resulting in both aesthetic and functional orofacial issues.
PHA is usually restricted to one side of the face, though
bilateral facial involvement has been reported, and hemiatro­
phy of the ipsilateral extremity (arm and/or leg) and trunk is
not uncommon (Fig. 35.1).21 It is likely multifactorial in its
etiopathogenesis; however, there is an autoimmune basis
provided by histologic evidence of a lymphocytic neurovas­
culitis (skin and brain);5,19,22 abnormalities on brain imaging
consistent with an in ammatory and/or vasculitic process;
and laboratory ndings in the sera (autoantibodies), and the
CSF (oligoclonal bands).22,26
Though controversial in the literature, PHA is considered
to be on the same spectrum of disorders as its companion
disease, “en coup de sabre” (ECDS), French for “like the cut
of a sword”, which describes the indentation of the scalp
and forehead of these patients.27 Both PHA and ECDS are
considered to be subtypes of localized scleroderma, linear
scleroderma affecting the head,28 with “typical” PHA having
more subcutaneous and bone atrophy (less obvious cutane­
ous findings) and ECDS having a hyperpigmented sclerotic
cutaneous linear band with associated alopecia. Some consider
ECDS to be a subtype of PHA, and it is controversial if these two
diagnoses are “one of the same” and a spectrum of the same disease
process. Many patients with linear scleroderma affecting the
head (face and/or scalp) have a mixture of the two condi­
tions (Fig. 35.1).19,29,30 When investigated, both PHA and ECDS
had the same amount of extracutaneous clinical manifesta­
tions19,31,32 such as dental, eye, and neurologic involvement,
further supporting that these conditions are on the same
spectrum. Treatment often depends on the clinical assessment
of the disease activity state. If cutaneous or extracutaneous
manifestations appear to be advancing or show evidence of
inflammation (as opposed to fibrosis), then systemic therapy
with immunosuppression is warranted.33,34 This can be fol­
lowed by surgical intervention when deemed in the inactive
state.
Basic science/disease process
The exact etiology of PHA is not well understood, but is felt
to have a strong autoimmune and neurogenic component.
Certain histologic findings have supported a combination of
the two, which may be best described as a lymphocytic
neurovasculitis.
Autoimmune process
PHA is a likely variant of the autoimmune disease “localized
scleroderma”, specifically the subtype of linear scleroderma

801.e1
Historical perspective
Historical perspective
The clinical finding of hemifacial atrophy was initially
described in the writings of Dr. Caleb Hillier Parry.1 However,
Parry’s medical writings were published posthumously on
account of a stroke he suffered in 1816, which forced him to
cease the practice of clinical medicine. With his daughter’s
assistance, he continued his observations in writing, including
observations about primary hemifacial atrophy. In 1825, 3
years after his death, his son Charles Parry published these
writings, which included the initial description of this
disorder.
In 1846, Dr. Moritz Heinrich Romberg,2 who had revolu­
tionized the field of neurology in Europe by publishing the
first systematic textbook on neurology, further described the
clinical manifestations of hemifacial atrophy. In 1871, Albert
Eulenburg,3 a German neurologist, coined the term “progres­
sive hemifacial atrophy” (PHA) and in 1945, Wartenberg
published an extensive review article covering its clinical
features.4
The pathogenesis of PHA is basically unknown and there
have been multiple suggestions for this etiology over the
years. Most recently, Mulliken called this a “lymphocytic
neurovasculitis” involving chronic cell mediated vascular
injury with incomplete endothelial regeneration regarding the
involvement of the long branches of the trigeminal nerve.5
Historically, consideration has been given to the concept
that congenital hemifacial atrophy may be a type of localized
scleroderma, especially when it is noted in the forehead as the
“en coup de sabre” or “mark of the saber”. Whether these two
are different entities or whether this is the same disorder in a
different form (i.e., localized scleroderma) is still not clear in
the literature.
In more recent years, Rogers6 reviewed 772 cases of PHA
and there was a further definitive review in 1983 by Lewkonia
and Lowry.7 The disorder has been shown to occur with other
body asymmetries and has been described with a host of
neurologic features. Many neurology articles point out that,
while less common, bony deformities can be present along
with the soft tissue defect. Bilateral cases have been reported
but are unusual.
In the timeline of treatment options for hemifacial atrophy,
it is evident that with increased availability of modern recon­
structive surgical techniques, the treatment of this disorder
has gradually changed over the years. Blair, in the 1930s,8 and
Sarnat9 and Neumann,10 in the 1950s, described the use of
local flaps to augment the soft tissue deficiency. Tube pedicles
were used about the same time to transfer soft tissue into the
defect from remote sites with its own blood supply and for
many years this was the treatment of choice. The tube pedicles
were de-epithelialized with appropriate amounts of fat and
dermis used for the reconstruction. In a case noted in this
chapter (from the 1960s), Barsky used abdominal tissue, which
was transferred to the face using this technique.
In the 1950s, bone and cartilage grafts gained favor. Camp­
bell, and later Converse, described the use of onlay iliac bone
graft to augment areas of atrophy.11 Later Longacre advocated
split costal bone for the same purpose.12 With the advent
of more biocompatible metals, Kiskadden and McGregor
described the use of tantalum for reconstruction of the hard
tissue defect.13 In the 1970s, Rees and Ashley published their
experience of treating PHA with silicone injections.14,15 Several
publications followed regarding this alloplastic approach. In
the 1970s, Wells and Edgerton described the use of free dermis
and fat from the lower abdomen as a filler material.
The era of free tissue transfer saw applications for the treat­
ment of PHA. In the 1970s, Wallace described the use of an
omental free flap for soft tissue augmentation.16 In 1985,
Jurkiewicz similarly described the use of a free, vascularized
tissue for patients with PHA. By the early 1990s, a series of
articles appeared by Siebert and Longaker17 and others18 using
free parascapular tissue for the treatment of this disorder and
at the present time various modifications of this technique
seem to be the standard of care.

802
SECTION II
CHAPTER 35 • Hemifacial atrophy
progressive hemifacial atrophy usually without significant
cutaneous involvement compared with ECDS, in which
cutaneous findings of hyperpigmented and/or sclerotic linear
markings are expected. However, skin biopsies performed in
patients with idiopathic PHA that had no apparent cutaneous
findings demonstrated a cellular infiltrate similar to localized
scleroderma. A perivascular infiltrate of mononuclear cells,
mostly lymphocytes and monocytes, has been demonstrated
in the dermis,19 with a particular focus surrounding the dermal
neurovascular bundles, termed “lymphocytic neurovasculi­
tis” by Mulliken and colleagues.5 Under electron microscopy,
degenerative alterations of the vascular endothelia were also
documented. These findings suggest an autoimmune disease
process similar to that of localized scleroderma.
There are a few histologic differences noted between
ECDS/localized scleroderma and PHA. Although the dermal
collagen fibrils appear more closely packed in patients with
PHA,5 they are not as homogenized and fragmented as seen
in localized scleroderma. The elastic fibers are preserved and
dermal appendages (hair follicles and sebaceous glands) are
that affects the head (en coup de sabre, ECDS). It is often hard
to differentiate these two entities, as ECDS often leads to
atrophy of subcutaneous tissue and facial bones, causing
hemifacial atrophy later in the disease course. Besides the
clinical appearance, other etiologic, histologic, and clinical
manifestations are similar between PHA and ECDS, which
lend support to the theory of different spectra of the same
disease. Both share similar characteristics, including age of
onset, female preponderance, neurologic involvement, lym­
phocytic infiltrate on biopsy, and a clinical course of evolution
for several years followed by stabilization. Positive autoanti­
bodies, such as anti-nuclear, anti-histone, and anti-single-
stranded DNA antibodies, which are found in ECDS, have
also been demonstrated in “classic” PHA (hemifacial atrophy
without sclerodermatous skin changes).24,35,36
Histologic findings
The histologic findings in PHA and ECDS are similar,
though there are a few differences. PHA refers to idiopathic
Fig. 35.1  (A,B) A 14-year-old girl with long-standing
linear scleroderma of the head, both Parry–Romberg
subtype (left hemifacial atrophy) and cutaneous en
coup de sabre features (affecting her right lower face/
neck). (C) She also has hemitongue atrophy, skewed
palate, malocclusion, and other dental abnormalities.
(D) Further examination supports hemiatrophy of right
shoulder, upper back, and chest.
A
B
C
D

803
Clinical manifestations
changes as seen in the ECDS form of localized scleroderma:
chronic perivascular lymphocytic inflammation with some
vessels showing intimal thickening and hyalinization.45
Infection hypothesis
As in most autoimmune diseases, infectious agents have been
postulated as an etiologic agent in PHA. The development of
clinical disease manifestations has been noted to follow viral
or bacterial infections. The most notorious suspect for both
PHA and ECDS was Borrelia burgdorferi.46,47 However, further
studies have not substantiated this finding.48,49 The viral infec­
tions indicated, such as Epstein Barr virus, correlate to the
typical exposure to these infectious agents in first and second
decades of life. However, they are more likely coincidental
rather than etiologic factors.
Trauma
The role of trauma inducing PHA is quite controversial;
however, in several patients a specific history of trauma to the
affected area is elucidated, especially following tooth injury or
extraction.50,51 In a self-report survey of 205 patients with PHA,
12% reported injuries they thought could be directly related
to their disease onset.20 There have not been any standardized
epidemiologic studies to verify this hypothesis.
Epidemiology
The incidence of PHA is not well defined but is tightly associ­
ated with that of the ECDS subtype of localized scleroderma,
since many reviews reporting and summarizing these dis­
eases are combined together.5,36,52 The incidence of localized
scleroderma is approximately 3 per 100 000 people, with a
prevalence of 50 per 100 000 people. Of those with localized
scleroderma, approximately 40% have the linear subtype; of
this, only 30% affect the face and/or scalp, termed “en coup
de sabre” (ECDS).53 Therefore, an estimated incidence of 5 per
1 000 000 people and prevalence of 8 per 100 000 people is cal­
culated for PHA. There is no racial predilection of PHA. There
is a slight female predominance with most studies having
female to male ratios between 2.2 : 1 and 3 : 1. The median age
of onset for most studies is 10 years old with a general range
of 5–15 years of age, which is consistent with ECDS.54 Most
cases of PHA are sporadic; however, a few familial cases have
been reported.7
Clinical manifestations
The initial clinical manifestations include both cutaneous
findings and subcutaneous atrophy. A recent survey of initial
symptoms reported by 49 patients with PHA demonstrates
37% having hyperpigmentation or darkening of the skin,
22% having a hypopigmented spot or streak of skin, 6%
with alopecia of the scalp, medial eyebrow or eyelashes,
and 24% noticed an “indentation” signifying subcutaneous
atrophy (Fig. 35.2).55 The subcutaneous atrophy typically
evolves first on the cheek or temple, and later extends to the
brow, angle of mouth, and/or neck.56 Later in the disease
course, atrophy or growth arrest of the underlying bone and
cartilage can occur, causing further facial deformity. Facial
muscles may become atrophic, but they tend to maintain their
hypoplastic in PHA compared with the destruction of elastic
fibers and atrophy of dermal appendages seen in ECDS.37,38
Neurogenic process
Several clinical manifestations support a neurogenic origin of
PHA. The distribution of facial atrophy typically follows a
dermatome of the trigeminal nerve, being unilateral in 95% of
the cases and only rarely crossing the midline. Pensler et al.
reported the initial distribution of atrophy among the divi­
sions of the trigeminal nerve in 41 patients with PHA to be
35% in V1, 45% in V2, and 20% in V3, with eventual progres­
sion of disease to involve 65% in V1, 80% in V2, and 50% in
V3.5 Neuritis of the trigeminal nerve is suggested by several
patients experiencing episodes of pain in the involved area
prior to the onset of tissue atrophy.39 An internet survey of 205
PHA patients by Stone et al. reported 46% of responders
experienced facial pain.20 The dermal lymphocytic infiltrate
centered around neurovascular bundles in the dermis on
histology also supports a neurologic target. Though most
patients with PHA do not experience facial sensory, sympa­
thetic, or parasympathetic dysfunction, some do experience
peripheral facial nerve palsy, ocular motor palsy, and optic
neuritis.31,40
Another theory involving the nervous system is the hyper­
activity of the sympathetic nervous system, specifically inflam­
mation of the superior cervical ganglion, causing features of
PHA. Experimental animal studies support this hypothesis.
Resende et al. ablated the superior cervical ganglion of rabbits,
cats, and dogs and observed clinical features consistent with
PHA within 30 days, such as localized alopecia, keratitis,
enophthalmos, hemifacial atrophy with slight bone atrophy.41
Moss and Crikelair also observed similar findings in an experi­
mental rat model after unilateral cervical sympathectomy.42
Clinical, radiological, and CSF laboratory findings of
patients with PHA highly support that the disease affects the
central nervous system, likely in an autoimmune fashion. The
clinical manifestations of CNS involvement are found in
approximately 8–20% of the patients with PHA (same as that
found in ECDS).19 These are usually expressed as seizures,
chronic headaches, and/or optic neuritis, and less commonly
as neuropsychiatric disorders, deterioration of intelligence,
and/or ischemic stroke. When brain imaging is performed in
symptomatic patients, abnormalities such as atrophy and
calcinosis are common, with up to 63% of 49 patients evalu­
ated by Kister et al. having multiple or diffuse brain lesions
on MRI.31 A recent PHA cohort study evaluating abnormal
brain imaging30 noted that the most common finding was
white matter T2 hyperintense lesions. Although found more
heavily on the ipsilateral side of the face and scalp with
subcutaneous atrophy, these lesions were present bilaterally
in the majority, supporting a “regional inflammatory process”.
This is not found in other lateralizing neurocutaneous syn­
dromes, such as Sturge–Weber syndrome,43 which will more
strongly lateralize to only the ipsilateral side, supporting a
more developmental etiology, whereas PHA is considered
acquired and likely an autoimmune process.
Lumbar puncture analysis of CSF reveals findings consis­
tent with an inflammatory process, demonstrating oligoclonal
bands and elevated IgG levels.44 Further evidence supporting
inflammation of the CNS are histologic findings of brain
biopsies of PHA patients, which demonstrate the same

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CHAPTER 35 • Hemifacial atrophy
normal function. The disease typically progresses slowly over
several years (2–10 years) and then tends to enter a stable
phase.50,56
Cutaneous and subcutaneous involvement
Cutaneous color changes are a common finding in PHA. The
discoloration is often described as a “bluish” or dark red, and
is commonly mistaken for a bruise that does not heal
(Fig. 35.3). This is thought to reflect increased vascularity
during the active or inflammatory phase of the disease.57 At
times, the initial blue, violaceous, or erythematous phase is
short and goes unnoticed, leaving behind post-inflammatory
hyper- or hypopigmentation. These dyspigmentations are
typically distributed in a dermatomal distribution along the
trigeminal nerve.5 If the skin lesion becomes fibrotic or atro­
phic and forms a well-demarcated linear depression (groove)
in a frontoparietal or hemifacial distribution, it is considered
to be more “classic” ECDS morphea or scleroderma of the
head (Fig. 35.4).58
For many patients with ECDS after skin and subcutaneous
induration and atrophy, the deeper tissues become involved,
leading to the development of hemifacial atrophy. Therefore,
the end result of ECDS appears the same as PHA without
sclerodermatous changes. Cutaneous disease damage param­
eters include dyspigmentation (both hyperpigmentation and
hypopigmentation), dermal atrophy (signified by shiny skin
and visible veins), subcutaneous atrophy (described as a flat­
tening or concavity of the subcutaneous tissue), and skin
thickening/fibrosis at the center of the lesion.59 Several skin
appendages reside in the dermis, including sweat glands and
hair follicles; therefore, alopecia of the scalp, eyebrow, and
eyelashes is not uncommon.60 Pensler et al. evaluated the
severity of disease damage (in regard to subcutaneous
atrophy) using multivariate analysis in a group of 42 patients
with PHA, and found it not to be significantly influenced by
trigeminal nerve distribution, side of face, age of onset, or
extent (surface area) of the disease process.5
Musculoskeletal involvement
The facial musculature undergoes atrophy and thinning,
mostly affecting the masseteric muscles, tongue (see Fig.
35.1C), and palatal muscles, though function is usually
Fig. 35.2  (A) An 8-year-old boy with right hemifacial atrophy demonstrating
absence of the medial lower eyelashes and a hyperpigmented lesion of the cheek
with associated subcutaneous atrophy. (B) The patient 3 months postoperative, after
two treatments with autologous structural fat grafting.
A
B
Fig. 35.3  A 7-year-old girl with active en coup de sabre, demonstrating an erythematous lesion on (A) the nose, (B) philtrum, and (C) left forehead.
A
B
C

805
Clinical manifestations
can develop. Although enophthalmos is common when PHA
involves the V1 distribution, the radiographic measurements
of the skeletal orbit are normal, and the enophthalmos is more
related to the atrophy of the periorbital subcutaneous tissues
rather than skeletal hypoplasia.5
Central nervous system involvement
Central nervous system manifestations occur in approximately
8–21% of the patients with PHA and include seizures, hemi­
paresis, migraine headaches, neuropsychiatric disturbances,
ischemic stroke, and intellectual deterioration.19,20,31,52,54 These
same manifestations and frequency of CNS involvement are
reported in association with ECDS. Most patients have CNS
symptoms years after the onset of cutaneous or subcutaneous
findings, with a mean of 4.3 years, though a minority (approxi­
mately 16%) will have neurologic symptoms preceding
cutaneous/subcutaneous involvement.31
The most common CNS manifestation is localization-
related seizures. In a literature review cohort of 54 patients
with PHA and/or ECDS that experienced neurologic symp­
toms, by Kister et al., 73% experienced epilepsy, 33% in whom
seizures were described as being refractory to medications.31
In comparison with other autoimmune disorders of the CNS,
such as multiple sclerosis, the brain lesions of PHA (and
ECDS) appear to be more epileptogenic.61 Supporting this
notion are the findings of a recent PRS/ECDS cohort study of
88 subjects with the history of having a seizure – all of these
patients had cortical or subcortical white matter T2 hyperin­
tensities.30 In contradiction to MS, focal CNS neurologic
symptoms were uncommon in PHA, with only 11% of patients
upon presentation and 35% of patients overall reported to
have focal deficits (excluding facial palsy). The literature
review of 54 cases by Kister et al. reported neuropsychiatric
symptoms in 15% of the cases and headaches in 35%.31 Stone’s
internet survey of 205 patients with PHA demonstrated that
46% of the patients reported anxiety; 10% reported depression
with a Hospital Anxiety and Depression score (HADS) >8;
and 52% reported migraine headaches.20
In those experiencing neurologic symptoms, brain imaging
is often abnormal. In Kister’s review, 49 of the 54 patients with
PHA had an MRI performed, and 90% revealed an abnor­
mality. In each patient, at least one T2 hyperintensity was
observed, mainly in the subcortical white matter, followed by
corpus callosum, deep gray nuclei, and brainstem (Fig. 35.5).31
Other abnormalities detected on MRI are intraparenchymal
calcifications and brain atrophy. Blaszczyk et al. reported an
association between calcifications and focal epilepsy.52 Brain
atrophy has been observed and varies from being very focal
and related to adjacent subcutaneous atrophy to more wide­
spread, involving an entire cerebral hemisphere, but as with
cutaneous disease, respects the midline and typically does
not cross over to the opposite hemisphere.31 MRI findings
of cerebral atrophy and encephalomalacia did associate with
the presence of seizures in a recent cohort study. There is
no direct correlation between the degree of severity of skin
and subcutaneous involvement and brain lesions, and several
patients with PHA are neurologically asymptomatic, in spite
of visible brain lesions.62 The disease course of the neuro­
logic and dermatologic manifestations also did not seem to
correlate in two recent longitudinal cohort studies, which
performed repeat imaging and neurologic assessment.30,63 The
preserved. The degree of skeletal hypoplasia of the afflicted
side of the face is dependent upon the age of onset, with those
younger than the age of 10 years at onset having the highest
risk.39 It is hypothesized that the facial skeleton does not
undergo atrophy, such as the subcutaneous tissue, but likely
fails to develop (hypoplastic) during this period of bony
growth, due possibly to the adjacent inflammatory and atro­
phic process of the overlying skin and subcutaneous tissue.
The maxilla and mandible are most often involved, with both
sagittal and vertical undergrowth, causing cosmetic and
dental abnormalities, vertical undergrowth of the ramus, and
a deficiency in posterior facial height results in hypoplasia of
the mandible. Since hypoplasia of either maxilla and/or
mandible is unilateral, profound tilting of the occlusal plane
Fig. 35.4  (A,B) A 13-year-old girl with typical en coup de sabre lesion affecting
the forehead and scalp with resultant skull depression.
A
B

806
SECTION II
CHAPTER 35 • Hemifacial atrophy
oral–facial complex. The tongue and upper lip on the affected
side of the face are often markedly atrophic. The maxilla and
mandible may be underdeveloped (hypoplastic), resulting in
malocclusion and altered dentition. As a result of jaw hypo­
plasia, there is often a unilateral posterior crossbite and
occlusal canting, and an abnormally skewed high arched
palate may also be observed (Fig. 35.6). As the active stage of
PHA coincides with the period of root formation and the
eruption of permanent teeth, deficient root development and
delayed tooth eruption are noted to occur.67
Radiographically, the teeth may have atrophic roots
causing delayed tooth eruption, but affected teeth are
clinically vital.68 A total of 35% of 201 PHA patients in one
survey complained of difficulty opening or closing the jaw,
or of jaw pain.20 Other reported oral characteristics of the
disease include: rigid lips; lip incompetence/extra-oral expo­
sure of teeth on the affected side; tongue sclerosis; limited
mandibular movements; alteration of the position of the
mandibular condyle in relation with the fossa; mandibular
joint restriction (pseudoankylosis);69 tooth root dilacerations;70
chin point deviation to the affected side and, rarely, angular
chelitis;71 and absent parotid and submandibular glands.68
One multi-center study of 16 patients reported that the main
odontostomatologic complications were: malocclusion (94%);
overgrowth tendency of the anterior lower third of the face
(82%); gnathologic alterations (69%); dental anomalies (63%);
skeletal asymmetry (56%); bone involvement (50%); and
temporomandibular joint involvement (19%).72 The patient
in Fig. 35.5 depicts several of these oral–facial characteristics.
Early orthodontic referral is important, as treatment during
the phase of active facial growth and dental development
facilitates the goal of optimized functional and cosmetic
outcome.
Laboratory findings and prognostic indicators
A review of the literature and case series demonstrate that
initial laboratory testing of inflammatory markers for disease
activity assessment to be of limited use with only approxi­
mately 10% of the patients having an elevated white blood
cell or eosinophil count, and 20% having an elevated sedimen­
tation rate.73 Autoantibodies, on the other hand, are quite
percentage of patients with PHA or ECDS that are neurologi­
cally asymptomatic with brain lesions is unknown given the
small cohort studies, which do not routinely image all patients
with these conditions.
In Kister’s cohort of 54 patients, 20 had an MRA or cerebral
angiogram performed, eight (40%) of which had vascular
abnormalities consistent with vasculitis. Of these cases,
biopsy-proven low-grade cerebral vasculitis was observed in
three cases.31 Brain biopsies of other select cases have found
brain parenchymal inflammation with a perivascular lympho­
cytic cuffing.45 Sclerosis, fibrosis, and gliosis of brain paren­
chyma, meninges, and vasculature have also been reported.64
CSF findings in PHA/ECDS also support an inflammatory
process by demonstrating oligoclonal bands and elevated IgG
levels.44
Ocular involvement
A variety of ocular abnormalities have been associated with
PHA, including alterations of the adnexal structures, anterior
or posterior segments of the eye and the optic nerve. The fre­
quency of involvement is unknown; however, a large portion
of those in Kister’s study and those in Stone’s internet survey
report eye findings, 29% and 46%, respectively, with uveitis,
optic neuritis, and globe retraction being the most common.31
Significant enophthalmos, principally due to soft tissue
atrophy, is demonstrated in the majority of patients with facial
atrophy in the first trigeminal nerve distribution.5 Ocular
muscle paralysis, ptosis, Horner syndrome, heterochromia
iridis, and dilated fixed pupil have been reported. Inflam­
matory conditions of the eye have also been demonstrated,
including uveitis (anterior and posterior), episcleritis, kerati­
tis, choroiditis, and papilledema.65,66 A careful ophthalmologic
examination using a slit-lamp is recommended in patients
with PHA and/or ECDS to assess for an inflammatory-fibrotic
process, which may be arrested by immunosuppressive
therapy.
Oral involvement
The soft tissue and craniofacial skeletal involvement of PHA
can significantly affect the appearance and function of the
Fig. 35.5  (A) A 7-year-old boy with a 4-year history of PHA developed slurred speech and ataxia. (B,C) MRI of the brain demonstrated new T2 prolongation signal of the
pons and cerebellar atrophy.
A
B
C

807
Clinical manifestations
Fig. 35.6  A 15-year-old patient with orofacial anatomic characteristics of hemifacial atrophy. The patient is in orthodontic therapy to prepare for orthognathic surgical
correction of the maxillary-mandibular occlusal cant and mandibular ramus height discrepancy. (A,B) Occlusal cant and chin point deviation to affected side. (B–D) Short
mandibular ramus on affected side, asymmetric mandibular planes. (C,D) Maxillary right canine impaction, absent root formation, and lack of eruption of maxillary right
premolars. Dilacerated maxillary right 2nd molar root. Impacted mandibular right 2nd molar.
A
B
C
D
common, with anti-nuclear antibody (ANA) positivity in
40–50% of the cases, demonstrating nucleolar, speckled,
and homogenous staining patterns.24,73 Specific antibodies to
extractable nuclear antigens have also been found including
anti-single stranded DNA (ss-DNA), anti-histone, anti-double-
stranded DNA, anti-centromere, and anti-Scl-70 antibodies.
Although these antibodies reflect autoimmune disease as an
etiologic agent for PHA, they are not specifically associated
with active or inactive disease. However, two of the antibod­
ies, ss-DNA and anti-histone antibody, have been correlated
to disease severity and progressive disease features, such as
larger surface area of the lesion and continued spreading of
the lesion in those with ECDS/PHA.25
Differential diagnosis
The main two entities included in the differential diagnosis of
PHA are congenital hemifacial or craniofacial microsomia
(CFM) and the ECDS subtype of localized scleroderma. CFM
is present at birth and includes diminution in the size of face
on the involved side, but it is not progressive like PHA. In
contrast, ECDS is difficult to distinguish from PHA, and there
are many that argue they are variants of the same disease
rather than two distinct entities, as noted earlier. As ECDS
results from an active stage, atrophy of the skin, subcutaneous
tissue and bone is morphologically identical to that of the
atrophy seen in PHA. Some would categorize the hemifacial
atrophy resulting from ECDS as a subtype of PHA. A few possible
differentiating features that are more distinct to ECDS, when
compared with “classic” PHA, are scalp and forehead involve­
ment, and induration of the skin and subcutaneous tissues
during the acute phase. However, this is not clear as histologic
evidence supports a similar lymphocytic infiltration in both
entities, as well as shared neurologic and ophthalmologic
features. There is considerable overlap between the two enti­
ties, with 30–40% of patients being classified as having coex­
istent ECDS and PHA (see Fig. 35.1).19,31 In addition, there are
several patients with PHA in association with different sub­
types of localized scleroderma affecting other parts of the
body besides scalp and face, such as deep, generalized, and
plaque morphea (Fig. 35.7).35
Other forms of lipoatrophy are usually not localized to the
face, such as lipodystrophy from congenital diseases such as
Progeria, Dunnigan syndrome, and Kobberling syndrome.
Other identified causes of widespread lipoatrophy are endo­
crine disorders, such as hyperthyroidism and diabetes; other
autoimmune diseases, such as systemic sclerosis and derma­
tomyositis; and drug-induced atrophy, the most notorious
being the protease inhibitors for the treatment of HIV. Other
craniofacial conditions present with bone hypoplasia (i.e.,
hemifacial microsomia); however, these syndromes are associ­
ated with clinical features distinct from PHA.

808
SECTION II
CHAPTER 35 • Hemifacial atrophy
Fig. 35.7  A 17-year-old patient with progressive hemifacial atrophy, (A) involving the left face with coexistent generalized plaque morphea of (B) neck, (C,E) back, and
(D) abdomen.
A
B
C
D
E
Patient selection
When selecting appropriate patients and options for treat­
ment, several factors need be considered. These include: (1)
the age of the patient; (2) the nature and the complexity of the
deformity (i.e., which tissue types are affected); (3) the pres­
ence of associated disorders and conditions; (4) patient’s
understanding of the problem and what are the options for
treatment; and (5) the timing for surgery.
Of these factors, the timing of the surgery is particularly
important. It has been generally assumed that reconstruc­
tive surgery is best done only after the disease has “burned
itself out”; and this could involve waiting as long as up to
several years following what looks like the end of progres­
sion of the disorder. However, the literature also suggests
that earlier treatment with vascularized tissue, such as
a free flap, is possible and that doing so may stop further
tissue wasting (i.e., it may interrupt the progression of the
disease). However, at this time, the more accepted opinion is
to wait until the disease has run its course. Most importantly,
treatment of this disorder is determined by the patient’s
individual deformity, ranging from mild to moderate to
severe.
In the mild disease deformity, injectable materials, of which
there are now many, may be sufficient to correct the deformity.
For both mild and moderate deformities, the use of fat injec­
tions (structural fat grafting) has a significant role, as do
buried dermal fat grafts. These can be used in more severe
deformities as well, often as an adjunct to surgery. However,
in the severe deformities, free tissue transfers are an option.
In all deformities, combinations of buried materials, injected

809
Treatment/surgical technique
active phase and facial skeletal growth is occurring; and/or
(3) allowing for the disease progression and facial/skeletal
growth to complete before addressing the resultant malocclu­
sion with definitive combined orthodontic and orthognathic
surgical intervention. Comprehensive oral/dental rehabilita­
tion also includes prosthodontic treatment to replace missing
or compromised dentition.
Orthodontic functional appliance therapy is the application
of an oral appliance designed to alter the neuromuscular
environment of the orofacial region to improve occlusal
development and/or craniofacial skeletal growth.79 Typically,
these muscular forces are generated by altering the mandibu­
lar position sagittally and vertically, resulting in orthodontic
and orthopedic changes. The period of treatment efficacy
correlates with active jaw growth. Despite a long history of
use (dating from the 1930s), there continues to be much con­
troversy relating to functional appliance use, method of
action, and effectiveness.80
The objective of functional appliance treatment in growing
patients with PHA is maintenance of parallelism of the facial
planes, specifically bilateral symmetry of mandibular ramus
height and resultant mandibular plane. The intention of treat­
ment is to stimulate condylar growth of the affected side in a
materials, and free tissue transfers in some combination all
have a role to play.
When dealing with free tissue transfers, the original use of
muscle and/or myocutaneous flaps, although generally satis­
factory, were found to be bulky. Omentum, which also has a
place as a free tissue transfer, has the downside of requiring
an abdominal exploration and is somewhat harder to fix in
place in the facial area. Consequently, fasciocutaneous flaps
have become the present choice for free tissue transfer, and
several have been described. These include the groin, the
anterior lateral thigh, and the SIEA – with consideration being
given to suiting the tissue transfer to the needs of the defor­
mity. However, the commonest free tissue transfers now used
are those based on the circumflex scapular pedicle, as these
allow bulk and pliability as well as better fixation. These flaps
can be taken in various combinations including the use of
bone if needed.
Treatment/surgical technique
Role of immunosuppression
In patients with PHA that have any cutaneous features of
localized scleroderma, such as erythema/purple hue, indura­
tion, dyspigmentation or thickness/fibrosis, or the appear­
ance of a demarcated line that is deepening as in ECDS, they
should be considered candidates for immunosuppressive
therapy. Patients with these features treated with immuno­
suppression, typically corticosteroids in combination with
a disease-modifying agent such as methotrexate, have been
found to have cessation of disease progression and reversal/
improvement of disease damage (Fig. 35.8). For example,
hyperpigmented skin becomes lighter; sclerotic skin softens;
subcutaneous atrophy is less noticeable with some “filling
in” of fat; hair growth is observed in areas of alopecia; and
tongue atrophy is less dramatic.74–77 Many PHA patients with
neurologic manifestations, such as seizures and optic neuritis,
have shown benefit from immunosuppressive therapy, and
some of these manifestations have flared after weaning off
therapy.34 After a period of 3–5 years on immunosuppressive
therapy and continued improved or stable examination and
clinical findings, immunosuppression is weaned off as the
disease is felt to have stabilized at that point. After an observa­
tion period of stable disease off medications, typically 1 year,
then it is felt “safe” for surgical intervention.
Non-surgical intervention
Oral rehabilitation
Osseous defects are usually seen when the atrophy manifests
before 15 years of age. Fronto-maxillary defects are seen in
onset before 5 years of age and mandibular defects when the
onset is between 5 and 15 years of age, and later onset (>15
years of age) has almost exclusively soft tissue changes.78
Accordingly, oral rehabilitation options relate to the stage of
onset and nature of anatomic involvement. Orthodontic treat­
ment options include: (1) Phase 1 orthodontics, often to
manage crossbite correction with orthopedic expansion of the
maxillary mid-palatal suture and dental eruption guidance;
(2) functional appliance therapy while the disease is in its
Fig. 35.8  (A,B) The 7-year-old girl pictured in Fig. 35.3, 3 years after initial
immunosuppressive therapy with prednisone and methotrexate and continued
low-dose therapy.
A
B

810
SECTION II
CHAPTER 35 • Hemifacial atrophy
options include dermal fat grafts, local/pedicles flaps, and
free tissue transfer.
Dermal fat grafts may be used, and these are larger pieces
of free fat grafts attached to the overlying dermis. The skin is
first de-epithelialized in situ, and the graft is harvested as one
unit.
Local pedicled flaps have been described to reconstruct
deficits and deformities in the head and neck. However, their
lack of significant bulk has limited their role in cases of exten­
sive soft tissue deficit (Fig. 35.9). Soft tissue based on the
superficial temporal pedicle may be rotated inferiorly to fill
more superficial depressions. Attempts to augment the bulk
of a local flap using a free dermal-fat graft, sandwiched
between the folded superficial temporal fascia, have been
described.83
Numerous free tissue transfers, or “free flaps” have been
used to correct facial contour deformities in patients with PHA.
These include free flaps of omentum, muscle, adipofascial, and
often a combination of tissue types, which offer benefits over
any single type alone. Smaller deficits may be reconstructed
with smaller muscle or fascial flaps, such as the gracilis (Fig.
35.10) and radial forearm adipofascial flap, respectively.84
Conversely, the deep inferior epigastric perforator (DIEP) flap
can provide more soft tissue bulk in patients with significant
deformities. In the heavier patient, the omentum, supplied
by either the right or left gastroepiploic arteries, provides an
adequate source of fat for soft tissue volume.16,85,86 Of course,
harvest requires entering the peritoneal cavity, either by
traditional or laparoscopic means, and the lack of internal
structure of the free flap often leads to soft tissue descent with
time. Other choices include the superficial inferior epigastric
artery (SIEA) flap,87,88 the transverse rectus abdominis muscle
(TRAM) flap,89 and the deltopectoral flap.90,91 Song et al. was
the first to report the harvest and application of the anterolat­
eral thigh adipofascial flap in 1984 (Fig. 35.11).92 Advantages
vertical direction to obtain equal vertical development of
the mandible and minimize progressive atrophy of facial
growth.67,81 Published case reports discuss the use of a remov­
able orthodontic appliance with an acrylic bite block inter­
posed between the maxillary and mandibular posterior teeth
on the affected side.67,81 In one report, active treatment spanned
6 years of appliance wear, 12–14 hours a day; monthly orth­
odontic visits for appliance adjustment were made during this
treatment period. Therapy was reported to affect mandibular
growth, reducing mandibular plane asymmetry. The resultant
posterior open bite on the affected side was then treated with
fixed orthodontic therapy.
Alloplastic fillers
The use of non-surgical alloplastic filling agents is advanta­
geous for facial contour reconstruction because of the absence
of a donor site and their abundant supply. These however, are
counterbalanced by their increased susceptibility to local
tissue responses, including capsule formation, seroma devel­
opment, infection, and extrusion as well as their material cost.
Examples include silicone gel, hydroxyapatite beads, and
hyaluronic acid.
Autogenous filling material, such as fat, is advantageous
because fat may be easily harvested from the patient with
almost no donor site morbidity. While there is no possibility
of rejection, atrophy of some portion of the grafted tissue is a
known possibility. As well, in the exceptionally thin patient,
subcutaneous fat might be difficult to identify.
Surgical intervention
The surgical treatment options offer larger amounts of tissue
for reconstruction and are often used in conjunction with
fillers to provide the best possible outcome.82 These surgical
Fig. 35.9  A 59-year-old woman diagnosed with progressive hemifacial atrophy and treated with a tubed pedicle flap from the abdomen to the wrist and eventually to the
face, where it was inset via a parotid incision.

811
Treatment/surgical technique
parascapular flap is to be used. The apex of the skin paddle
is centered over the triangular space bounded by the teres
minor, teres major, and long head of triceps. The vessel within
the triangular space is checked with the Doppler. The axillary
artery gives off the subscapular artery, which in turn gives rise
to the circumflex scapular artery about 1–4 centimeters from
its origin. Occasionally, the circumflex scapular artery can
arise directly off the axillary artery. The circumflex scapular
artery usually travels with paired venae comitantes and the
subscapular artery travels with a single vein. The circumflex
scapular artery enters the posterior torso via the triangular
space and gives off a transverse cutaneous scapular branch
and a vertical parascapular branch. The latter supplies the
parascapular flap. The transparency made from the defect can
then be used to maximize soft tissue harvest (Fig. 35.13C).
The incisions at the donor and recipient sites are injected
with lidocaine and epinephrine. Lubrication is placed in the
eyes and a temporary tarsorrhaphy can be used to protect the
corneas. The face is prepped with dilute Betadine solution.
The procedure begins with creation of the subcutaneous
pocket at the recipient site deficient in soft tissue volume. The
extent of the dissection must extend beyond the borders of the
atrophy to allow for adequate contouring. Suitable recipient
vessels are identified for the vascular anastomosis. At the
conclusion of this portion of the dissection, careful hemostasis
is achieved with a bipolar electrocautery and counted sponges
are left beneath the dissected skin envelope.
Next, the flap is harvested from the posterior torso. This
may be done without having to turn the patient significantly.
The trapezius and infraspinatus muscles should be identified
early in the dissection since they serve as important landmarks
for flap dissection, which should proceed from medial to
lateral and inferior to superior. Flap elevation is best per­
formed in the looser areolar tissue just above the muscular
of this flap include the ability to harvest the flap in the supine
position away from the area of inset, the large, reliable skin
flap that is available, its proximity to larger muscles that may
be incorporated into the flap for bulk, and its relatively long
vascular pedicle. The donor site defect may be closed directly,
in the absence of sufficient tension, or reconstructed with a
skin graft. Disadvantages to this flap include the variability
of the skin perforators and the potentially tedious dissection
of the pedicle if it courses within the muscle for an extended
length.93 If bone augmentation is required, the option of a
vascularized costochondral graft taken with a latissimus dorsi
musculocutaneous flap has been described.94
Scapular and parascapular flap
The scapular and parascapular adipofascial flaps, based on
the circumflex scapular pedicle, are among the most useful
flaps for restoring facial volume (Fig. 35.12).95–98 Advantages
include its relatively straightforward harvest, posterior torso
donor scar, and minimal functional deficit. Disadvantages
include the need to position the patient in either a prone or
lateral decubitus position in order to harvest the flap. The
authors prefer the lateral decubitus position so that the patient
does not need to be turned during the case. However, less
than adequate exposure of the contralateral face for compari­
son results.
The technique of soft tissue augmentation of the face begins
with marking the patient for reconstruction (Fig. 35.13A). This
should be done prior to positioning the patient in the operat­
ing room. A transparency of the defect can then be created
using transparent X-ray film (Fig. 35.13B). Once anesthetized,
the patient is carefully positioned either in a true lateral
decubitus position or supine, with the ipsilateral shoulder
turned to expose the posterior torso if a scapular or
Fig. 35.10  (A) Preoperative photograph of a 20-year-old man with localized progressive hemifacial microsomia affecting primarily the left lower face. (B) Postoperative
photograph following harvest and inset of a free gracilis flap. (C) Postoperative photograph following revision of the free gracilis flap by debulking.
A
B
C

812
SECTION II
CHAPTER 35 • Hemifacial atrophy
required. At each point, a narrow roll of Vaseline gauze is
fabricated as a tie-over bolster. Fixation involves passing a
smooth nylon or Prolene suture completely through one side
of the Vaseline gauze bolsters. It is then passed through the
skin and into the pocket for the flap. A mattress suture is used
to grab the flap and the suture is passed back into the pocket
and out of the skin in proximity to the entrance point. It then
passes through the other end of the bolster and is left long
while each of the remaining sutures are placed. When all
sutures are positioned, each is tied down, making sure the flap
is completely passed into each of the pockets that have been
dissected out (Fig. 35.13E).
A single small drain is placed in the facial site, and a second
larger drain is left in the donor site. The former is removed
prior to discharge if the output is sufficiently small. The latter
is left in longer because of its tendency to continue to drain
serous fluid. The wounds are closed in layers and the face
dressed with bacitracin to avoid pressure over the flap.
Even in the absence of a skin paddle, an audible Doppler
signal through the skin should be recorded every hour for the
first day and then every 2 hours for the second day. Patients
are kept NPO for the first night and then gradually advanced
to clears and a regular diet.
Orthognathic surgical treatment
It has been observed that the earlier the symptoms appear, the
more progressive the bony atrophy becomes.99 In severe cases,
soft tissue augmentation may not be sufficient to camouflage
fascia. If flap elevation proceeds deep to the fascia, the dissec­
tion can become confusing where the pedicle exits the trian­
gular space.
The flap can be completely de-epithelialized and buried or
left with a thin cutaneous paddle, incorporated into the
closure and available for postoperative flap monitoring (Fig.
35.13D). The flap periphery should be contoured and fixed to
the skin with overlying bolsters. Several points of fixation are
Fig. 35.11  The anatomy of the anterolateral thigh flap. D, septocutaneous
perforators of the descending branch of the circumflex femoral artery; m1,
musculocutaneous perforators of the transverse branch of the lateral circumflex
femoral artery; m2, musculocutaneous perforators of the descending branch of the
lateral circumflex femoral artery.
m1
m2
D
Fig. 35.12  The anatomy of the parascapular flap. D, circumflex scapular artery.
D

813
Treatment/surgical technique
Fig. 35.13  (A) Preoperative photograph of a 25-year-old man with more diffuse progressive hemifacial microsomia. (B) Intraoperative photograph demonstrating the use of
X-ray film to map the extent of involvement and soft-tissue requirement. (C) Intraoperative photograph demonstrating transfer of the template to the posterior torso prior to
harvest of a parascapular free flap. (D) Intraoperative photograph of the flap positioned over the ipsilateral face prior to inset. Note the thin, vertical skin paddle left over the
proximal portion of the flap that is used to monitor the viability of the flap postoperatively. (E) Intraoperative photograph following inset of the free parascapular flap. Note
the use of Vaseline gauze tie-over bolsters to hold the distal margins of the flap in their respective subcutaneous pockets.
A
B
C
D
E
the patient’s facial and occlusal asymmetries. The skeletal
deformities in PHA that are treated with combined orthodon­
tic and orthognathic surgery include: (1) hypoplasia of the
zygomatic complex and maxilla which can cause orbital
dystopia and depressive deformities in the zygomaticomaxil­
lary region; the maxilla tilts upward and backward and the
volume is reduced; and (2) hypoplasia of the mandible, espe­
cially the ramus, which causes obvious deviation of the chin
and occlusal plane.100
Pre-surgical fixed orthodontic appliances (braces) are
typically required to prepare for harmonious postoperative
occlusion, and facilitate intraoperative movement and post­
operative retention of jaw position. A period of postoperative
orthodontic treatment is required to create an optimal
occlusal result. Surgical procedures utilized to address the
maxillary and mandibular dysmorphologies of PHA include
LeFort I osteotomy, total mandibular subapical osteotomy,
MEDPOR implants, bone grafting of osseous defects, rib
grafting, mandibular lengthening, genioplasty, and man­
dibular distraction.100–102 Typically, reconstructive surgery is
deferred until the disease process ceases. The effect of PHA on
oral–facial function and appearance can be profound. Orth­
odontic referral at the time of disease onset is important as
treatment during the phase of active facial growth and dental
development facilitates the comprehensive goal of optimized
functional and cosmetic outcomes.

814
SECTION II
CHAPTER 35 • Hemifacial atrophy
The first revision is not planned any sooner than 6 months
following the initial flap placement to allow any postopera­
tive edema to resolve and the flap to develop a secondary
blood supply from the surrounding tissues. Some patients
may benefit from waiting even longer if continued changes in
the face are noted. Debulking the flap may be achieved with
either direct excision, suction lipectomy, or a combination of
the two.
The existing incisions are usually sufficient for access to the
flap. At 6 months, it is unlikely that interruption of the pedicle
would lead to compromise of the flap. However, the location
of the vascular pedicle should be known, so it may be avoided
and bleeding minimized. Again, bolsters may be used to fix
underlying soft tissue into place. Further refinements of the
flap are certainly plausible to address persistent concerns.
Debulking of the flap is usually one component of the
revision, along with further addition of soft tissue to areas that
remain deficient. In the latter instance, flap tissue from overly
bulky areas may be rotated and transferred to areas with a
persistent lack of volume. Similarly, additional autogenous fat
or alloplastic filler may be used for smaller areas of need.
Outcomes, prognosis,
and complications
The outcomes from soft tissue augmentation should be satis­
factory, with symmetry as the ultimate goal. At present, free
tissue survival is highly successful especially in younger
patients with healthy donor and recipient vascularity. Success
is predicated more on identifying the tissue types involved,
the precise location of the deficit, and subsequently choosing
an appropriate intervention strategy. Certainly, incorporating
multiple reconstructive strategies is reasonable and often
preferable.
Secondary procedures
Following reconstruction with free tissue transfer, secondary
revision should be considered part of every treatment proto­
col. It would be exceedingly unusual for the exact amount of
tissue to be harvested and placed at the initial procedure.
Edema progresses during surgery and blurs the boundaries
between normal and deficient tissue.
1. Parry C. Collections From Unpublished Medical Writings of the Late
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Access the complete reference list online at

814.e1
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SECTION II • Craniofacial
36 
Pierre Robin Sequence
Chad A. Purnell and Arun K. Gosain
SYNOPSIS
■ Pierre Robin Sequence (PRS) is a clinical triad consisting of
glossoptosis, retrognathia, airway compromise, often with clefting of
the secondary palate.
■ PRS can be an isolated entity or found in association with many
syndromes, most commonly Stickler syndrome.
■ The spectrum of symptoms is vast and a multidisciplinary evaluation
is necessary.
■ This work-up must begin with an airway assessment.
■ Respiratory distress can be managed with prone positioning and
supplemental oxygen for the majority of children with PRS and isolated
base-of-tongue airway obstruction.
■ Nasopharyngeal airway is indicated if these measures are inadequate.
■ Surgical intervention may be indicated for airway problems refractory
to conservative measures, and this primarily consists of tongue-lip
adhesion, mandibular distraction, or tracheostomy. There is debate
over the preferred surgical management.
■ Nutritional support is required for most patients. Specialized bottles,
nipples, feeding positions, or feeding tubes may be utilized.
■ The PRS patient must be followed throughout childhood by a
multidisciplinary team.
Historical perspective
The earliest account of a presentation of PRS dates back to
1822 by St. Hilaire, followed by Fairbain in 1846.1 Later in the
19th century, attempts were made to subclassify the clinical
entity, by Taruffi into those with “hypomicrognathus” and
those with “hypoagnathus”. These descriptions demonstrate
that as early as the 19th century, clinicians understood that a
major component of this entity was the mandible. In 1891,
Lanneloague and Monard described four cases, two of which
had an associated cleft of the palate. In 1902, Shukowsky
presented a case of a hypoplastic mandible causing respira­
tory distress.
Despite earlier descriptions, the condition bears the name
of the French stomatologist Dr. Pierre Robin. Dr. Robin lived
from 1867 to 1949 and was a professor in the French School
of Stomatology as well as the editor of the periodical Stoma­
tologie. His main contribution to the body of knowledge
regarding PRS was its dissemination. Beginning in 1923, he
wrote 17 articles on the problems of “glossoptosis” and is
credited with introducing the term. He highlighted the sever­
ity of the potential respiratory complications and the difficulty
these children have with feeding and weight gain.2,3 Robin felt
that the more severe cases were quite dire and wrote, “I have
never seen a child live more than 16–18 months who presented
with hypoplasia such as the lower maxilla was pushed more
than 1 cm behind the upper.” To combat the airway compro­
mise, Robin preferred a “monobloc” dental orthopedic appli­
ance to keep the mandible forward to restore the normal
mandibulo-maxillary relationship. Unfortunately, Robin drew
many extraneous associations to this cohort and overestimated
the incidence of the clinical entity at three out of five live
births (Fig. 36.1).
In 1902, Shukowsky performed the first tongue-lip adhe­
sion (TLA) by simply suturing the tongue to the lip, but the
description was not published until 1911.4 This was successful
in one patient, but another patient died of asphyxia when the
suture pulled through the tongue. The use of TLA was not
widely accepted during these initial descriptions. For the next
four decades, primary treatment for respiratory distress in
this cohort consisted of external traction devices placed on the
mandible. One such device consisted of a pediatric back brace
with a halo from which traction was applied. This was main­
tained for 4 weeks and was usually successful in alleviating
the airway compromise. This modality, however, led to a
significant amount of temporomandibular joint ankylosis.
Then, in the 1940s, Douglas published a refined technique of
TLA and a resurgence in the technique occurred.5
PRS has evolved in name since the early descriptions as the
understanding of the etiopathogenesis has advanced. Initially,
the clinical constellation was termed “Pierre Robin syndrome”.
In 1976, Gorlin, Pinborg, and Cohen created the term “Pierre
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816
SECTION II
CHAPTER 36 • Pierre Robin Sequence
obligatory for the diagnosis. Cleft palate can be U- or V-shaped
and is present in approximately 50% of cases (Fig. 36.2). PRS
can be an isolated entity or found in the clinical setting of a
syndromic child. Some 30–60% of patients with PRS have an
associated syndrome.8–10
The incidence of PRS is estimated to be from 1 : 8500 to
1 : 20 000 live births.10–12 There are no gender differences in
incidence, except in extremely rare X-linked syndromic
associations.
The etiology of PRS is still unclear and is likely multifacto­
rial. Before any etiological considerations, a clear understand­
ing of the difference between a syndrome and clinical sequence
is important. A syndrome refers to a group of signs and
symptoms that vary in degree of expression but ultimately
result from a single pathologic insult. A sequence describes a
spectrum of anomalies that may be instigated by varying
disease processes, but ultimately converge in the same phe­
notypic findings. This differentiation is germane as a portion
of patients with PRS will also be syndromic, such as Stickler
syndrome. The converse does not hold true, as not all patients
with Stickler syndrome have the phenotypic findings of PRS
(Fig. 36.3).
The etiology of PRS is not completely clear and is likely
multifactorial. Shprintzen13 classified etiology as “malforma­
tional” or “deformational”. “Malformational” refers to a man­
dibular predisposition to be retrognathic, such as in Treacher
Collins, Nager, or Stickler syndromes. “Deformational”
Robin anomalad”, noting that this entity was not a syndrome.6
The term “anomalad” was used to describe an etiologically
nonspecific complex that could occur with various syndromes
of known or unknown origin or in isolation. Some authors
began to use the phrase “Robin complex” but this was shortly
replaced by “Pierre Robin Sequence” (PRS) or “Robin
sequence” by Pasyayan and Lewis in 1984.7 Purists feel that
eponyms should not include first names and prefer “Robin
sequence”.
In the last three decades, significant debate has arisen
regarding the diagnosis, natural history, and treatment of PRS.
A significant portion of this debate surrounds the rise in
popularity of distraction osteogenesis (DO), and the indica­
tions for this technique in PRS. At this time, the paradigm of
treatment appears to be shifting towards expanding indica­
tions for distraction osteogenesis; however, an absence of
well-designed studies evaluating long-term outcomes of TLA
and DO limit the ability to make definitive decisions regard­
ing these procedures.
Basic science/disease process
PRS is a clinical triad consisting of glossoptosis, retrognathia,
and airway obstruction. The term “glossoptosis” refers to a
posteriorly displaced tongue that obstructs the airway and
does not refer to an enlarged tongue. A cleft palate is not
Fig. 36.1  Dr. Robin postulated many clinical associations with glossoptosis.
Cephalees
Cauchemars
Oreilles deroliers
Oreilles
Age de la parole
Strabisme Int Ext
Mydriase Myosis
Nystagmus
Cloison deviee
Voute ogivale
Erosion dents
Hypo ou Hyper
Thyroidisme
Erythrodermie
Reflexe pilomoteur
Thorax en carene
ou en creux couer
Apophyse
xiphoide
Aerophagie
Gaz haut et bas
Constipation
Acrocyanose
Enuresie
Onxyophagie
Genu valgum
varum
Hyper Hypotrophie
Mongolisme
Retardataire
Acrocyanose
Hyperhydrose
Pieds plats
Afections meninges
Aprosexie
Hypo-Hyperpituritansme
Sinusites
Tete inclinee
Nez en longnelle
Stenose nasale
Respirateur par la bouche
Glossoptose
Compression du
Confluent vital
functiones
Hauter du corps
Irregularite des
machoires
Thymus
Gastroenterite
Dyspepsie
Ictere
Crises
Appendicite
operee
Ganglions cervicaux
Vago sympathico
Neuroloniques
Amygdiles
machdires
Vegetations adenoides
Epaules
en dedans
Bos rond Cyphose
Scoliose
Omoplate saillante
Lordose
Hyperhydrose
Mains en pronation
Ne a terme
Poids au biberon
Appetit
Nourri au sein
Retards marche -
langage, appetit
Convulsions
Choree
Tics
Peau
Rhumes
Genou rechi
Robustesse
indice pignet
Envergure
Dianetre
T1 AP
Poids
Taille
Dolicocephale
Asymetrie
Brachycephale
Affections pulmonaires
Omoplate sallante
Chapelel
Infection
gastro-intestinale
Plose abdominale
Puberte
Cryplorchidie
Engelures
Bromhydrose
Engelures
Variens
G.de loup
Coractere difficile
Intelligence vive faible
Asthenine
Instabilite
Lenteur
Agitation
Frilosite
Couche en boule
Progeru

817
Basic science/disease process
formation of PRS. Possible causative teratogens include
alcohol, trimethadione, and hydantoin.17
Due to the multiple syndromes associated with PRS and
its multifactorial etiopathogenesis, analysis of inheritance is
complex. Cohen18 reported up to 18 associated syndromes
with PRS in 1978. The current list of recognized associations
is quite extensive (Box 36.1).
The most frequently associated syndrome with PRS is
Stickler syndrome, which is associated with 11–20% of PRS
cases.8–10,22,23 Multiple subtypes of this connective tissue disor­
der exist, most commonly with autosomal dominant inheri­
tance. Causative genes include COL2A1 (12q13, accounts for
80–90% of cases), COL9A1, COL11A1 (1p21), or COL11A2
(6p21), which affect type II, IX, or XI collagens.24 Stickler
syndrome is characterized by midline clefting, flattened
midface, hypoplastic mandible, flat nasal bridge, long phil­
trum, epicanthal folds, prominent eyes, retinal detachment,
cataracts, joint hypermobility, and sensorineural hearing loss.
Molecular genetic testing for causative genes is available; but
most often, initial diagnosis is clinical.
The second most commonly associated syndrome with
PRS is velocardiofacial syndrome (Shprintzen syndrome),
which is associated with 11% of PRS cases.23 The etiopatho­
genesis is secondary to a deletion in 22q11.2, hence the
updated nomenclature 22q11.2 deletion syndrome. Charac­
teristics include cleft palate, mandibular hypoplasia, long
upper lip and philtrum, an elongated face, almond-shaped
eyes, a wide nose, small ears, conductive hearing loss,
slender digits, hypoparathyroidism, immune dysfunction
(thymic aplasia), and learning disabilities. The cardiothoracic
anomalies can include pulmonary atresia, ventricular
septal defect, and hypoplastic pulmonary arteries. Approxi­
mately 21% of patients have micrognathia, and 11% have
cleft palate.25
Nager syndrome, or acrofacial dysostosis, is a rare syn­
drome that can demonstrate autosomal-recessive or, more
commonly, autosomal-dominant inheritance.26,27 The majority
Fig. 36.2  (A) This child with Pierre Robin Sequence demonstrates the classic
U-shaped cleft palate. (B) The cleft palate in Pierre Robin Sequence may also take
the form of a V.
A
B
Fig. 36.3  There are many syndromes associated with Pierre Robin Sequence;
however, it can also be found in isolation.
Stickler
syndrome
Velocardiofacial
syndrome
11–20%
Pierre Robin
Sequence
Nager
syndrome
15+ other
associated
syndromes
Approx 11%
refers to an intrauterine growth restriction that places the
child’s chin in a flexed position into the chest, restricting
growth. He hypothesized that restriction could be caused
by a multigravid pregnancy, oligohydramnios, or a uterine
anomaly.
Chiriac and colleagues14 postulated three theories regarding
the etiology of PRS. In the “mechanical theory”, the inciting
event is mandibular hypoplasia that occurs in the 7th–11th
week of gestational life from various etiologies. The effect
is a tongue that rides high in the oral cavity and interferes
with the movement of the lateral palatine processes as
they progress from a vertical to horizontal orientation (Fig.
36.4). Experimental animal models support this sequence of
events.15,16 Some feel a U-shaped palatal cleft is more common
in PRS due to this wide blockage by the tongue; however
clinically, both U- and V-shaped clefts have been noted. In
the “neurologic maturation theory”, a neuromuscular delay
occurs in the musculature to the tongue, pharyngeal pillars,
and palate. The delay has been noted on electromyogram
in PRS. In the “rhombencephalic dysneuralation theory”,
motor and regulatory organization of the rhombencephalon
is related to a major complication in development.
Cohen17 also described several distinct mechanisms of
etiopathogenesis: malformation, deformation, and connective
tissue dysplasia. This final mechanism describes a link
between diseases of “connective tissue dysplasia” and PRS,
such as Stickler syndrome. Many authors also agree upon the
potential influence of intrauterine teratogen exposure in the

818
SECTION II
CHAPTER 36 • Pierre Robin Sequence
Fig. 36.4  (A–H) The embryology of the tongue and palate is important for understanding the cleft palate in Pierre Robin Sequence. The retropositioned tongue blocks the
movement of the lateral palatine processes from a vertical to horizontal position.
A
B
C
D
E
F
G
H
Nasal cavity
Brain
Oral cavity
Tongue
Tongue
Tongue
Mandibular prominence
Olfactory nerves
Olfactory nerves
Eye
Nasal
septum
Nasal
conchae
Nasal
conchae
Nasal septum
Nasal septum
Nasal cavity
Maxillary prominence
Bone in maxillary
prominence
Bone in maxilla
Labiogingival lamina
Labiogingival groove
Developing gum
Developing upper lip
Site of future fusion
Nasal septum
Nasal septum
Gum
Philtrum
Frenulum
Hard palate
Incisive papilla
Upper lip
Gum
Primary palate
Secondary palate
Median palatine
process
Median palatine
process
Median
palatine process
Lateral palatine
process
Lateral palatine
process
Lateral palatine process
Palatine raphe
Soft palate
Uvula
Lateral palatine process
Lateral palatine process
Fused lateral
palatine process
Meckel’s
cartilage
Mandible
Oral cavity
Plane of sections C, E, and G

819
Diagnosis/patient presentation
Cardiac abnormalities are also commonly found associated
with PRS. Congenital heart defects are associated with PRS in
14–30% of cases.31–33 Cardiac findings can be isolated or a
result of a syndromic association. The presence of cardiac
abnormalities is associated with increased mortality in the
population of PRS patients initially admitted to an intensive
care unit.33
Infants with PRS may also present with feeding difficulties
and failure to thrive. Poor feeding, long feeding times, hypoxia
during feeding, gagging, vomiting, aspiration, frequent pneu­
monia, and gastroesophageal reflux disease are possible. The
failure to thrive in this cohort has dual causality from both
the poor intake and from the increased metabolic demand
from increased respiratory effort and prolonged feeding
times.34 Feeding difficulties in PRS are multifactorial. Airway
compromise can lead to gastroesophageal reflux through
decreased intrathoracic pressure, and reflux can exacerbate
respiratory issues.35 Additionally, children with PRS have
abnormal oroesophageal motility, and syndromic PRS patients
often have abnormal oral and/or facial muscle innervation.36–38
Estimates of mortality have improved as both the under­
standing of and treatment options for PRS have evolved. As
stated above, Robin painted a bleak picture for any child with
PRS.39 In 1946, Douglas reported >50% mortality with conser­
vative treatment.5 The major cause of mortality was felt to be
secondary to aspiration. In 1994, Caouette-Laberge et al.40
of cases are caused by haploinsufficiency of gene SF3B4.28 The
craniofacial features are similar to Treacher Collins syndrome,
with downward-slanting palpebral fissures and mandibular
and malar hypoplasia. Additionally, these patients may have
hypoplasia or agenesis of the thumbs, radius, and occasion­
ally lower extremity malformations with short stature. Cleft
palate is often present. The mandibular hypoplasia can be
severe and patients do not have normal mandibular growth
potential.26,27
Diagnosis/patient presentation
The spectrum of severity of PRS can be quite varied. Second­
ary respiratory disturbances are equally varied; these range
from mild with subtle findings on polysomnogram to pro­
found, requiring emergent intubation at birth. In severe
cases, periodic desaturations may occur, along with retrac­
tions, stridor, or hypoxia and hypoxemic neurologic injury.
Untreated, these children can progress to develop cor pulmo­
nale. Children with PRS consistently have an obstruction
localized to the level of the base of the tongue due to glos­
soptosis. However, synchronous airway lesions are common
in PRS in up to 28% of patients.29,30 The most common of these
is laryngomalacia and 10–15% of infants with PRS have been
found to have this loss of support of supraglottic structures.
BOX 36.1  There are many recognized syndromes associated with Pierre Robin Sequence. The postulated or known genetic loci are shown for
several syndromes.8,17,19–21
• Abruzzo–Erickson syndrome
• Achondrogenesis type II: 12q13.11-q13.2, COL2A1
• ADAM sequence (anionic deformity, adhesions, mutilations)
• Amniotic band disruption
• Andersen–Tawil: 17q23.1-q24.2, KCNJ2 gene
• Beckwith–Wiedemann syndrome: locus 11p15.5, 11p15.5,
11p15.5, 5q35. p57, H19, LIT1
• Bruce–Winship syndrome
• Campomelic syndrome
• Carey–Fineman–Ziter
• Catel–Manzke syndrome
• Cerebrocostomandibular syndrome
• CHARGE association
• Chitayat syndrome
• Collagen XI gene sequence
• Congenital myotonic dystrophy
• Del (4q) syndrome
• Del (6q) syndrome
• Diastrophic dysplasia
• Distal arthrogryposis–Robin sequence
• Donlan syndrome
• Dup (11q) syndrome
• Femoral dysgenesis–unusual facies syndrome
• Fetal alcohol syndrome
• Froster contracture–torticollis syndrome
• Kabuki syndrome
• Larsen syndrome: 3p14.3, mutations in FLNB (Filamin B) gene
• Marshall syndrome: COL11A1
• Martsolf syndrome: 1q41 gene encoding protein RAB3GAP2
• Miller–Dieker syndrome: 17p13.3
• Möbius syndrome: 13q12.2-q13
• Nager syndrome: SF3B4, 9q32
• PARC syndrome (poikiloderma, alopecia, retrognathism, cleft
palate)
• Persistent left superior vena cava syndrome
• Popliteal pterygium syndrome
• Postaxial acrofacial dysostosis (Miller syndrome)
• Radiohumeral synostosis
• Richieri–Costa syndrome
• Robin–oligodactyly syndrome
• Sanderson–Fraser syndrome
• Spondyloepiphyseal dysplasia congenital: 12q13.11-q13.2,
COL2A1
• Stickler syndrome: 12q13.11-q13.2, COL2A1, COL9A1,
COL11A1, COL11A2
• Stoll syndrome
• TARP Syndrome (RBM10, X-linked)
• Toriello–Carey syndrome
• Treacher Collins syndrome: mutation in the “treacle” gene
(TCOF1), locus 5q32-q33.1
• Velocardiofacial syndrome: microdeletion at the q11.2 band of
chromosome 22
• Weissenbacher–Zweymuller syndrome
(otospondylomegaepiphyseal dysplasia) (type II Stickler or
“nonocular Stickler Syndrome”): gene COL11A2 locus 6p21.3

820
SECTION II
CHAPTER 36 • Pierre Robin Sequence
The interaction with the PRS child does not necessarily
begin in the delivery suite. Patients with more subtle signs
may have a more delayed presentation.49 Once clinical suspi­
cion of PRS is raised, a stepwise work-up should ensue. The
work-up should be centered on the significant effects experi­
enced by the PRS patient: the presence of respiratory and
feeding difficulties. One must also be mindful of any failed
measures previously attempted for the patient. Multiple
modalities are required to adequately assess a patient’s degree
of airway compromise and to guide therapy.
A thorough history should be obtained that includes the
mother’s history and the patient’s prenatal course. Key points
to elucidate from the history are maternal alcohol or drug
consumption, infections during pregnancy, prenatal care and
screening, and a family history of genetic syndromes.
The pathognomonic mandible must be assessed. A metric
is needed for initial assessment and growth monitoring of the
diminutive mandible in the absence of dentition. This can be
simply obtained by using a wooden end of a cotton-tipped
applicator or tongue depressor to measure the maxillary-
mandibular discrepancy (MMD).49,50 The stick is pressed
against the anterior aspect of the gingiva of the mandibular
alveolus and a mark is made at the anterior aspect of the
maxillary alveolus (Fig. 36.6). This MMD can be variable if not
performed systematically. As the mandible has a tendency to
fall posteriorly in the supine position, the MMD should be
obtained with the child upright. Some authors have stated
that an MMD of 8–10 mm is an indication for surgical treat­
ment. Robin himself stated that no infant lived past 18 months
of age when the MMD was >10 mm.51 However, in practice,
this distance should act as a guide and not as an absolute for
selecting a treatment modality; surgical indications should
arise from the overall clinical picture and additional objective
assessments.
Respiratory assessment is essential in selecting the proper
treatment for PRS. Respiratory compromise occurs from birth
until growth of the mandible allows the base of the tongue to
clear the airway and the oropharyngeal musculature gains the
control required to keep the airway patent, or occasionally not
at all. Some feel that the obstructive events in newborns with
PRS increase in frequency in the initial 4 weeks of life; there­
fore, a false sense of security should not occur after a brief
evaluation. In a series by Gosain and colleagues, 18 patients
presented in the 1st week of life and three patients presented
between 12 and 33 months of age.49 Initial assessment should
include continuous pulse oximetry in different scenarios:
while the child is awake, sleeping, and feeding. The monitor­
ing time required during sleep should be a minimum of 12 h
for neonates and a regular period of sleep for children. The
criteria for desaturations are defined as having any single
oxygen saturation value <80% at any time or if oxygen satura­
tion values are <90% for 5% or more of the monitored time.49
A second portion of the initial airway evaluation is a formal
polysomnogram, both with and without a nasopharyngeal
airway in place. Polysomnography is useful to identify occult
obstructive sleep apnea (OSA), which is present in over 50%
of patients with PRS, and is often quite severe.34,52,53 If OSA
resolves with a nasopharyngeal airway in place, this suggests,
but does not confirm, that the obstruction is isolated to the
tongue base. If the patient has desaturations on continuous
pulse oximetry or OSA on polysomnogram, endoscopic evalu­
ation of the airway is performed.
stratified mortality into three groups. For those with adequate
respiration in prone positioning and the ability to be bottle-
fed, the mortality was found to be 1.8%, increasing to 10% if
gavage feeds were required. Mortality increased further to
41% in those with respiratory distress necessitating endotra­
cheal intubation and gavage feeds. More recently, Costa et al.
describe an 11-year series of 181 patients, with an overall
16.6% mortality rate. Concomitant cardiac and neurologic
malformations were the greatest predictors of mortality. There
were no deaths in isolated PRS patients.33
Patient selection
While prenatal diagnosis of PRS can be successfully accom­
plished,41–43 the vast majority of cases are noted on or after the
first day of life.44 The best setting for a child with suspicion of
PRS is in a tertiary care institution with a multidisciplinary
pediatric team. This team should include a pediatric pulmo­
nologist, geneticist, speech therapist, nutritionist, anesthesi­
ologist, otolaryngologist, and craniofacial surgeon.45
As respiratory distress may be lethal, initial management
of the airway is of paramount importance. For the child sus­
pected of having PRS, resuscitation according to the American
Academy of Pediatrics Neonatal Resuscitation Program
begins with prone positioning and supplemental oxygen. If
this fails, then a laryngeal mask airway (LMA) or nasopha­
ryngeal airway can be attempted (Fig. 36.5). If this modality
fails, then endotracheal intubation may be necessary, and can
be aided with a fiberoptic laryngoscope.46 Intubation is chal­
lenging due to retrognathia and glossoptosis, and there have
been many descriptions of specialized intubation techniques
in this population.46,47 All the prior steps are contingent on the
neonate’s cardiopulmonary status, the skill of the physician
managing the airway, and the availability of proper equip­
ment. If all else fails in the acute setting, an emergency tra­
cheotomy may be indicated. If a child is prenatally diagnosed
with multiple congenital anomalies including micrognathia,
an EXIT (ex utero intrapartum treatment) airway management
procedure may be a viable option.48 In this scenario, the
airway can be secured while the child is still receiving placen­
tal circulation. Once the airway is secured, further evaluation
may proceed.
Fig. 36.5  A lateral radiograph demonstrating a nasopharyngeal tube bypassing the
base-of-tongue obstruction.

821
Patient selection
A
Fig. 36.6  (A) The objective measurement of the mandibular-maxillary discrepancy should be standardized with the child in the upright position with the mandible gently
supported without translating it out of position. (B) The mandibular maxillary discrepancy is then measured by marking the distance from the most anterior aspect of the
mandibular alveolus to the most anterior aspect of the maxillary alveolus on a cotton-tipped applicator. This is then measured with a ruler.
B
Endoscopic evaluation in PRS should include both nasoen­
doscopy and bronchoscopy. This is paramount to demonstrate
the proper level of obstruction. There are three main subdivi­
sions: no visible obstruction, tongue base obstruction, or
infraglottic obstruction. Care must be taken not simply to stop
after visualizing a tongue base obstruction, because synchro­
nous airway lesions occur in up to 28% of patients. Occasion­
ally, the craniofacial surgeon will be consulted after intubation
or tracheostomy. These patients will still require endoscopic
evaluation, and if the patient is intubated, nasendoscopy
should be done in the setting in which the endotracheal tube
can be withdrawn during examination to evaluate the native
airway, and replaced immediately following evaluation. If the
nasendoscopy in a child suspected of having PRS demon­
strates no visible obstruction, one must suspect a central
nervous system or pulmonary disorder. It is appropriate to
obtain the consultation of a pediatric neurologist and pediatric
pulmonologist.
Sher and colleagues54 described four types of obstruction
seen via flexible nasopharyngoscopy in 53 children with
neonatal OSA, the majority of whom had micrognathia. Type
1 is described as “true glossoptosis”, and consists of a tongue
that contacts the posterior pharynx at a level below the soft
palate (Fig. 36.7). Type 2 consists of a tongue that is displaced
posteriorly as in type 1, but at the level of or above the soft
palate, such that the palate becomes sandwiched between the
tongue and posterior pharyngeal wall in the upper orophar­
ynx (Fig. 36.8). Type 3 consists of an obstruction caused by a
medial collapse of the lateral pharyngeal walls (Fig. 36.9).
Type 4 consists of the pharynx collapsing or constricting as a
sphincter (Fig. 36.10). In this analysis, 59% of patients were
classified as type 1; 21% were type 2; 10% were type 3; and
10% were type 4.
Bronchoscopy is indicated in order to rule out a concomi­
tant subglottic airway obstruction. As stated earlier, synchro­
nous airway lesions are common in PRS, most commonly
laryngomalacia.29 However, not all airway lesions are equal,
and laryngomalacia’s role in PRS has been debated. As the
natural history of this obstruction is that the majority resolves
with time, some groups will treat PRS without additional
intervention for laryngomalacia unless needed later.55,56
All patients with PRS should have a complete feeding
assessment, as a majority have some type of feeding difficulty,
especially in syndromic associations.57,58 This begins by plot­
ting the child on a growth chart to determine the starting
point and successive trend in weight. Most patients with PRS
are below the 50th percentile initially.45 Additionally, a down­
ward trend in weight can be seen without treatment. The child
should also have a formal assessment by a speech therapist,
including visual observation of feeding with concurrent pulse
oximetry. Children with PRS usually have prolonged feeding
times and oroesophageal discoordination.38 Patients may gag

822
SECTION II
CHAPTER 36 • Pierre Robin Sequence
dysfunction. The orifice of the eustachian tube may also be
chronically inflamed from continuous reflux secondary to the
cleft palate.
Treatment
Treatment of airway obstruction in PRS is a complex decision
given the heterogeneity of patient presentation. As in the
diagnostic work-up of these patients, one should begin with
the least invasive, most appropriate modality first. There are
two main categories for airway management: non-surgical
and surgical.
To begin a discussion of the treatment of the airway
obstruction, the underlying mechanism must be understood.
Robin39 described the mechanism as a tongue that is dis­
placed posteriorly due to the retrognathic mandible. Others
have similarly described the tongue base acting as a “ball
valve” draping over the glottis (Fig. 36.11). The muscular
coordination of the oropharynx also plays a role in the
obstruction. Neuromuscular impairment may predispose the
airway to collapse. Inadequate functioning of the genioglos­
sus was described by Delorme et al.62 In this description, the
genioglossus is shortened and rotates the tongue posteriorly.
Delorme and colleagues went on to postulate that this causes
the retropositioned mandible, and not the converse. This
theory is not widely accepted, but demonstrates the com­
plexity and lack of consensus of the possible etiology. Sec­
ondary airway lesions also exacerbate airway obstruction.
Another point of contention is the role that cleft palate
plays in PRS. Some feel that this anatomic finding will
Fig. 36.7  Description of the types of obstruction seen
endoscopically in children with Pierre Robin Sequence.
Type 1 obstruction is described as “true glossoptosis”,
and consists of a tongue that contacts the posterior
pharynx at a level below the soft palate. (Reproduced from
Sher AE, Sphrintzen RJ, Thorpy MJ. Endoscopic
observations of obstructive sleep apnea in children with
anomalous upper airways: predictive and therapeutic value.
Int J Pediatr Otorhinolaryngol 1986; 11:135.)
and cough during feeds or even become hypoxic. In addition,
it has been suggested that up to 87% of infants with PRS have
gastroesophageal reflux.35,59 The PRS child is already predis­
posed to aspiration, and the addition of significant reflux only
compounds this. A pH probe can be utilized to determine if
the child would benefit from medical treatment. However,
many PRS patients have reflux that may not be detected on
standard pH monitoring, so these results should be inter­
preted with caution, and manometry should be considered if
clinical suspicion is high.38 Further evaluation with videofluo­
roscopic swallow studies or upper GI series should be per­
formed at the discretion of speech therapists. A majority of
patients with PRS will require temporary supplemental
feeding strategies such as a nasogastric tube.57 Of note, the
intrinsic esophageal dysfunction in PRS appears to spontane­
ously regress by 12 months of age.38
Evaluation by a clinical geneticist is indicated and further
work-up is guided by physical examination and clinical
suspicion. Hearing and ocular evaluation, in particular,
should be performed on each child with PRS. The reasons
for this are twofold: often PRS is the only initial presentation
of Stickler syndrome, and PRS patients in general appear to
be at higher risk for hearing loss than other cleft patients.60,61
In one series, 83% of children with PRS had some degree of
hearing loss versus 60% of children with a cleft palate only.60
The hearing loss was also more profound in children with
PRS, and typically conductive in nature. There was also an
increased incidence of middle-ear effusions, despite normal
middle- and inner-ear anatomy. If cleft palate is present,
the anomalous insertion of the tensor veli palatini and
levator veli palatini muscles predisposes to eustachian tube

823
Treatment
therefore a normal dental arch relationship does not neces­
sarily imply normal size of the mandible.49,65–67 While an
increased rate of growth between 3 months and 2 years of
age in isolated PRS mandibles was supported in one well-
designed study,68 studies from a smaller cohort have not
supported any increased growth rate at all from 2 months
to 22 months.69,70 Different syndromes also appear to have
differing mandibular growth potential, with velocardiofacial
and Stickler syndrome having more normal growth than
Treacher Collins, Nager syndrome, or bilateral craniofacial
microsomia.71 The largest studies to date appear to indi­
cate that faster than normal “catch-up” growth does not
occur past 5 years of life; and the mandible, maxilla, and
airway remain smaller than normal controls throughout
childhood.67,68,71–74
exacerbate the upper airway obstruction. Hotz and Gnoinski
theorized that the tongue may become impacted in the palatal
cleft, perpetuating the posterior positioning of the tongue and
upper airway obstruction (Fig. 36.12).63 Others assert that the
cleft may be beneficial and act as an oronasal passage for air.
The natural history of the mandible in PRS is a widely
debated topic. Pruzansky initially described disproportion­
ately rapid “catch-up” growth of the mandible in patients
over time, with a concomitant improvement in the airway.64
Over time, this finding has been utilized to justify con­
servative interventions, allowing the mandible in PRS to
grow and resolve airway issues. However, later published
cephalometric data has added nuance to this idea. While it
does appear that in many cases the MMD in PRS improves
with time, the maxilla is also smaller than normal, and
Fig. 36.8  (A) Type 2 obstruction consists of a tongue that is displaced posteriorly as in type 1 but at the level of or above the soft palate, such that the palate becomes
sandwiched between the tongue and posterior pharyngeal wall in the upper oropharynx. (B,C) This child demonstrates a cleft palate with the tongue displaced cranially
above the palate.
A
B
C

824
SECTION II
CHAPTER 36 • Pierre Robin Sequence
Fig. 36.9  Type 3 obstruction consists of an obstruction caused
by a medial collapse of the lateral pharyngeal walls.
Fig. 36.10  Type 4 obstruction consists of the pharynx collapsing or constricting as
a sphincter.
Fig. 36.11  The tongue displaces posteriorly and can act as a ball valve. The
dashed line demonstrates the normal position of the tongue. The solid line depicts
the possible position of the tongue in Pierre Robin Sequence.

825
Treatment
Cogswell and Easton77 showed that the least resistance to
airflow for children with PRS is in the prone position. Provid­
ing the child with supplemental oxygen can bolster this
maneuver. If effective, the prone position must be maintained
24 h a day, even during feeding, baths, and diaper changes
(Fig. 36.13). Prone positioning may be the only therapy used
in patients with PRS if there is adequate parental understand­
ing and support; however, maintaining this at all times can be
challenging.
If prone positioning fails, then a nasopharyngeal airway
should be considered.78 Some authors recommend placement
at the epiglottis, or until the resolution of the obstruction
occurs. Several centers have had success with long-term
management of PRS with nasopharyngeal airway alone.79–83
Treatment setting for nasopharyngeal airway may be as an
inpatient or outpatient.81,84 In the largest series of nasopharyn­
geal management of PRS to date, 77 patients had attempted
management with nasopharyngeal airway alone. Of these, 63
(81.8%) had successful treatment, with a mean hospital stay
of 10 days. Patients were discharged home after parental
competence was demonstrated and a post-airway polysom­
nogram showed significant improvement. The mean time
until airway removal was 8 months, as guided by polysom­
nogram. While nasopharyngeal airway clearly is a viable
option for PRS management, it requires significant parental
education and involvement, as well as frequent follow-up, or
long hospital stays if inpatient management is chosen.79,81,84
If nasopharyngeal stenting is not successful, then nasal
continuous positive airway pressure can be undertaken, and
if successful, has been described for long-term therapy.85
Further management may include LMA or endotracheal
intubation. In the moment of airway compromise, some
instruments may not be readily accessible or timely; therefore
some steps may be skipped and the child may need immedi­
ate endotracheal intubation.
If endoscopic evaluation reveals isolated tongue-base
obstruction, a variety of palatal appliances have been described
Fig. 36.12  An endoscopic view of glossoptosis, with the posteriorly displaced
tongue entrapped in the palatal cleft and completely occluding the oropharynx.
Fig. 36.13  A female with isolated Pierre
Robin Sequence treated with prone
positioning alone at 1 week old versus 3
years old. Note the improvement in MMD
with time.
A
B
Non-surgical airway management
A majority of patients with PRS (especially isolated PRS) can
be managed non-surgically.9,10,12,57,75 However, the importance
of complete evaluation during these maneuvers cannot be
stressed enough. Once an intervention is found to improve
oxygen saturation acutely, continuous pulse oximetry and
polysomnogram should be performed to confirm resolution
of obstructive symptoms. The algorithm for the acute man­
agement of the airway in this cohort was described earlier.
Prone positioning is the initial maneuver attempted in airway
management. This acts to displace the chin and tongue base
forward. The benefit of this maneuver was described by Robin
in 193451 and radiographically confirmed by Sjolin in 1950.76

826
SECTION II
CHAPTER 36 • Pierre Robin Sequence
Surgical airway management
Surgical management is indicated if conservative measures
fail to relieve airway obstruction, if a family is unable to
comply with non-surgical home therapy, if a child’s syndromic
associations predict failure of conservative treatment, if a
for treatment.86–89 These acrylic plates act to push the base of
the tongue anteriorly (Fig. 36.14). In the largest report of plate
usage, relief of airway obstruction was achieved in 122/134
neonates (91%) diagnosed with PRS. However, the plate was
less successful in relieving feeding difficulty, with 26.2% of
patients requiring nasogastric or gastrostomy feedings.88
Fig. 36.14  (A) A 3-month-old infant with isolated Pierre Robin Sequence with respiratory desaturations. On initial exam, she had a mandibular maxillary discrepancy of
4 mm. (B) The patient had a cleft palate. (C,D) A mold was made and a dental plate was fashioned. (E,F) The plate fits comfortably and is held in place with dental
adhesive. (G,H) The patient at 6 months of age with a mandibular-maxillary discrepancy of zero. She did not require supplemental oxygen and was feeding well.
A
B
C
D
E
F
G
H

827
Treatment
the inferior side of the opposing defect in the mucosa of the
lower lip. The exposed tongue musculature is then sutured to
the exposed orbicularis oris and anterior soft tissues through
a small incision caudal to the mandibular symphysis. A larger
stay or suspension suture is passed in a circummandibular
fashion into the muscular substance of the tongue in order to
pull the tongue anteriorly. Several authors have described
using various methods to accomplish this, including Keith
needles or an awl.95,96 This suture can then be tied over a
button or buried in the muscular substance of the adhesion.97,98
A nasopharyngeal tube may be placed and left indwelling for
2–3 days if there is ongoing airway compromise secondary to
swelling. Feeding is often compromised, and can be adminis­
tered by a nasogastric or orogastric tube. These children
should remain in an intensive care setting during the postop­
erative period as they are extubated in a guarded manner and
to ensure that the airway remains patent afterwards.
The timing of the takedown of a TLA is an important aspect
of the procedure. Some authors recommended repair of the
cleft palate, if present, at the same time as the TLA takedown.
This methodology can lead to unnecessary prolongation of
the TLA with the potential for oromotor retardation. In addi­
tion, a combined cleft palate repair and TLA takedown may
produce substantial airway edema and respiratory compro­
mise. Conservative guidelines include evaluation of the child
at 1 month of age to assure the TLA was successful. After­
wards, evaluations should be performed every 2 months until
the adhesion is taken down. The evaluation focuses on tongue
motion, which is infantile and possibly dormant early in life.
As the child matures, the tongue will exhibit rhythmic mus­
cular movements. A good clinical indicator of tongue maturity
is active motion in response to touch. The decision to take
down the TLA should be based on tongue activity in response
to stimulus, improvement in the MMD, and the overall
child is unable to be extubated, or if the medical team and
family agree to pursue a more invasive course of treatment.
Airway management can be accomplished with soft-tissue or
skeletal techniques, or with tracheostomy. Significant contro­
versy remains as to the optimal management, indications, and
contraindications of these procedures.90,91 Differences also
exist between regions of the country and between subspecialty
preferences for treatment.92,93
Soft-tissue techniques
While many soft-tissue techniques have been developed, all
rely on anterior advancement of the tongue to relieve upper
airway obstruction. Tongue-lip adhesion (TLA) was originally
described by Shukowsky in 1911. In his technique, the tongue
was simply sutured to the lower lip.4 The concept was then
popularized by Douglas in 1946.5 In Douglas’ technique, a
rectangular area is denuded under the tongue, along the floor
of the mouth, on the alveolus, and on to the lower lip. The
tongue is then brought forward, and these raw surfaces are
sutured together. A mattress tension suture passes from the
dorsum of the tongue to the chin. This technique was modi­
fied by Routledge in 1960,94 and more recently modified by
Argamaso.95 TLA remains a common treatment at many
centers, with continued modifications. The authors’ preferred
technique is comprised of elevating a proximally based rect­
angular mucosal flap from the ventral surface of the tongue
and a complementary superiorly based mucosal flap from the
labial surface of the lower lip (Figs. 36.15–36.18). These flaps
are approximately 1 × 1.5 cm in size. If a short or tight lingual
frenum is present, a frenulotomy or a frenectomy can be
beneficial. In the modification described by Argamaso,95 the
genioglossus muscle is detached from the mandible with a
small periosteal elevator. The tongue-based flap is sutured to
Fig. 36.15  (A–C) In a tongue lip adhesion a posteriorly based flap is elevated from the tongue and a corresponding mucosal flap is elevated from the labial surface of the
lower lip. Care is taken not to injure the Wharton’s ducts. The tongue-based flap is inset to the caudal margin of the defect created by the elevation of the lip-based flap. A
non-resorbable suture is then passed through the tongue and brought through the raw surface created by the flap elevation. The suture is then passed through the raw
surface created by the labial flap, taking care to catch orbicularis oris. The suture is then brought out through the submental area by passing anterior to the mandible. The
labially based flap is then inset into the tongue defect.
A
C
B

828
SECTION II
CHAPTER 36 • Pierre Robin Sequence
is performed separately at the routine time interval, which is
at age 11–12 months at the authors’ institution. To takedown
the TLA, the two mucosal flaps are incised and the interven­
ing tissue between these flaps is divided by electrocautery.
The flaps are then closed such that no raw surfaces remain
that could result in scar contracture. Using this protocol, the
clinical picture. An MMD of 3 mm or less is usually a good
prognostic indicator that the TLA can be taken down safely,
but larger discrepancies may still be acceptable for takedown
of TLA in the face of a very active tongue and a clinically
robust child. Using these guidelines, most adhesions are able
to be reversed by 6–7 months of age.49 Elective palate repair
Fig. 36.16  (A) A child with Pierre Robin Sequence. (B) The child was treated with a tongue-lip adhesion. (C–F) The patient did well throughout childhood and
demonstrated good mandibular growth over time.
A
B
C
D
E
F
Fig. 36.17  (A–D) A child treated successfully for airway compromise and feeding difficulties with tongue-lip adhesion alone.
A
B
C
D

829
Treatment
surgical intervention for recurrent airway obstruction within
4 months; however, 7 of the 11 patients were syndromic.104
Kirschner et al. also describe a higher failure rate in syndromic
patients.98 There are only limited data on the effects of TLA
on polysomnographic findings in the literature. Sedaghat
and colleagues evaluated polysomnograms in eight patients
before and after TLA. While seven of the eight patients had
improvement in the apnea-hypopnea index after the proce­
dure, only three of the eight patients had reduction to either
mild or no OSA postoperatively.105 Other series describe
similar improvements in polysomnography.106 The only com­
parative data available is from Flores et al., who also showed
improvement in polysomnography and oxygen saturation
after TLA in 15 patients, but these improvements were signifi­
cantly less than those in patients who had mandibular distrac­
tion osteogenesis at 1 month and 1 year postoperatively.107
LeBlanc and Golding-Kushner examined speech outcomes
after TLA and found that patients had minimal long-term
effects on speech development.108 Glossopexy seemed to affect
only early speech production by delaying sound production.
Once the TLA is taken down, patients have accelerated devel­
opment and “catch-up” to control patients. Morphologic
changes were seen in the TLA cohort, such as thick lower lip
mucosa, a blunted lingual apex, and lingual deviation on
protrusion, but were temporary. The TLA cohort was equal to
patients with cleft palate and syndrome-matched counterparts
in the maintenance of articulatory integrity and their develop­
ment of speech sound production at 18 months.
Other soft-tissue procedures have been described other
than TLA, but most are solely of historical interest. Oecono­
mopoulos109 described the use of a heavy silk suture through
the base of the tongue that is affixed to the cartilaginous
portion of the mandible about 1 cm lateral to the midline.
Hadley and Johnson110 also devised a technique where the
tongue is pulled anteriorly, then a Kirschner wire is driven
through the mandible from angle to angle in order to maintain
tongue position (Fig. 36.19). Lewis et al.111 described a tensor
fascia latae sling for treatment. In this technique, a long strip
of tensor fascia latae is harvested and passed posteriorly
through the substance of the tongue through a submental
incision. The graft is then tensioned and sutured to the peri­
osteum of the mandibular symphysis. Bergoin and col­
leagues112 describe a procedure termed “Hyomandibulopexie”.
In this technique, the ventral anterior surface of the tongue
and mandible is anchored to the hyoid bone with 3-0 braided
authors have not had any residual tongue dysmorphia or
impairment in tongue motility.
Proponents of TLA cite that it is a minimal operation
that allows natural mandibular “catch-up” growth to occur
without restriction. They also note minimal long-term mor­
bidity and a favorable complication profile if performed by
experienced surgeons.
The literature regarding TLA is divided. Studies are retro­
spective and occur over the course of many years, often with
changes in technique, making definitive decisions difficult.
One clear point is that TLA is not successful in patients
with concomitant lower airway obstruction, highlighting the
need for clear bronchoscopic evaluation prior to performing
the procedure. Multiple authors have described failure of
TLA in patients with synchronous airway lesions such as
tracheomalacia.49,97–100
The largest series of TLA in the current literature is by
Rogers et al., with 53 TLAs with genioglossus release and
circummandibular retention suture performed over the course
of 11 years.97 There were six failures and an 89% rate of success.
All failures were in patients who were syndromic. The authors
conclude that gastroesophageal reflux, preoperative intuba­
tion, age >2 weeks, birthweight <2500 g, and syndromic
diagnosis are predictors of worse outcomes after TLA, and
that the presence of ≥3 of these factors is a predictor of failure
of TLA to relieve airway problems. Notably, bronchoscopy
was performed preoperatively in all patients, and there was
a 4% rate of dehiscence. These findings were supported in a
follow-up study.101
Critics of TLA state high rates of dehiscence, decreased
ability to resolve airway obstruction, speech and swallowing
problems later in life, and injury to Wharton’s ducts as reasons
to avoid the procedure. Dehiscence has been as high as 20–29%
in some series.99,100,102 However, improvements in technique
seem to have decreased this rate. Kirschner et al. described a
41% rate of dehiscence with a mucosa-only adhesion, but a
0% rate once a muscular retention suture was added.98 Other
series utilizing a retention suture describe rates from 4–5%.95–97
Resolution of airway obstruction is variable in TLA studies,
and is difficult to completely characterize given differing
indications and preoperative work-up prior to procedure in
each manuscript. Success rates as low as 43% and as high as
89% have been reported.97,103 In Denny and Kalantarian’s
series of 11 patients with PRS, only two were successfully
treated with TLA alone. Five patients required secondary
Fig. 36.18  Left: the same patient as in Fig. 36.17
demonstrating glossoptosis on nasoendoscopy. Right:
the airway is cleared 3 days after tongue-lip adhesion.

830
SECTION II
CHAPTER 36 • Pierre Robin Sequence
(Fig. 36.21). Through a 2 cm submental incision, the perios­
teum is incised at the lower border of the mandibular sym­
physis. Then the wide periosteal release of the floor of mouth
musculature is done from the mandibular symphysis to
bilateral angles. This includes release of the origins of the
genioglossus, geniohyoid, and mylohyoid muscles. Caouette-
Laberge and colleagues used this technique successfully in 11
of 12 patients, and then reported its success in an additional
26 of 31 patients.40,106 Breugem and colleagues highlight the
need for strict indications for this procedure in their treatment
of 14 patients with subperiosteal release. Seven patients failed
and required tracheostomy, of which six were syndromic.115
Dudiewicz et al.35 felt that success with this technique could
nylon sutures. Lapidot and Ben-Hur113 describe passing
18-gauge steel wire is passed into the most posterior midline
portion of the tongue base and tensioned around the hyoid
bone (Fig. 36.20). In the Duhamel procedure,114 heavy nylon
suture is passed across the most posterior aspect of the body
of the tongue, exits laterally through the cheeks or oral com­
missures, and is then tied over buttons.
More recently, Delorme and colleagues62 felt that the mus­
culature of the floor of the mouth is under increased tension
in PRS, causing the tongue to rotate cranially and posteriorly.
Based on this hypothesis, a full soft-tissue release from the
anterior mandible is all that would be required to relieve
the airway obstruction through de-rotation of the tongue
Fig. 36.20  The technique described by Lapidot and
Ben-Hur113 uses an 18-gauge steel wire that is placed into
the most posterior midline portion of the tongue base.
The steel wire is then directed anterior and caudally to
arise below the hyoid bone. The opposite end of the wire
is tunneled submucosally to the foramen cecum and then
directed inferiorly to emerge at the superior aspect of the
hyoid.
Fig. 36.19  Hadley and Johnson110 described a technique in which a Kirschner wire is passed from mandibular angle to mandibular angle with the tongue under tension.
Inferior alveolar
nerve
Kirschner
wire
Traction suture
1/3
1/3
1/3
1/2
1/2

831
Treatment
applies traction to the mandible. One major drawback of this
technique is that the circummandibular wires at the parasym­
physis can cut through the thin bone in neonates. One method
affixes an acrylic plate to the mandible by circummandibular
wires and the tension is distributed evenly, decreasing cut-
through (Fig. 36.22). The traction is released for feeds after 1–2
weeks. Over time, the counterweight is decreased. The wires
may remain in place for up to 5 weeks. Some centers have had
success with this technique on an outpatient basis.116
With the advent of distraction osteogenesis, the armamen­
tarium of the craniofacial surgeon was expanded for many
purposes. In 1927, Rosenthal118 performed the first mandibular
osteodistraction procedure using an intraoral tooth-borne
appliance. The work of Ilizarov with the long bones advanced
understanding of distraction osteogenesis exponentially. In
1972, Cosman and Crikelair119 reported three cases of respira­
tory difficulty associated with retrognathia that responded to
mandibular advancement. In 1989, McCarthy et al.120 clinically
applied the technique of extraoral osteodistraction on four
children. In 1997, Guerrero et al.121 were the first to report the
results of intraoral mandibular distraction for widening of
transverse deficiencies in 11 patients. In 1994, McCarthy
developed a miniaturized bone-borne uniguide mandibular
distractor. In 1994, Havlik and Bartlett,122 and later Haug and
be obtained by combining subperiosteal release with closure
of the cleft palate. It was felt that a properly repaired cleft
palate provides a barrier against the posterior displacement
of the tongue.
Overall, all of the soft-tissue techniques strive toward the
same goal: to pull the base of the tongue forward relative to
the mandible. The authors feel that this is most logically
carried out by pulling the tongue longitudinally toward the
lip with a TLA.
Skeletal techniques
Skeletal techniques have transitioned from traction procedures
to distraction procedures over time. Traction applied to man­
dible as a treatment for PRS is mainly of historical note, but
is still practiced in some institutions.116,117 Circummandibular
wires are placed, and these wires are attached to a pulley that
Fig. 36.21  In the procedure described by Delorme and colleagues,62 a
subperiosteal release of the floor of the mouth musculature is done through a 2 cm
submental incision. The wide periosteal release is done as far posteriorly as the
angles of the mandible. This includes release of the origins of the genioglossus,
geniohyoid, and mylohyoid muscles.
Fig. 36.22  (A,B) A demonstration of using traction on the mandible to relieve
airway obstruction. In this technique, an acrylic plate is fixed to circummandibular
wires and traction is applied to the plate.
A
B

832
SECTION II
CHAPTER 36 • Pierre Robin Sequence
challenging. The mandibular body is easier to access, but has
multiple tooth buds that are difficult to avoid. Not only is one
likely to eliminate or injure tooth buds at the site of osteotomy
and/or device fixation, but there will inevitably be a gap in
the permanent dentition where distraction took place. There­
fore, the authors’ preference when using internal distraction
devices is to make utilize an inverted L-osteotomy on the
posterior aspect of the mandibular body and ramus, placing
the vertical component posterior to the tooth buds, and the
horizontal component above the occlusal plane so as to mini­
mize risk to the inferior alveolar nerve. When using external
distraction devices, the authors prefer a transverse osteotomy
in the mandibular ramus, placed above the occlusal plane so
as to avoid the inferior alveolar nerve. Other types of osteot­
omy have also been described (Fig. 36.25). Selecting the vector
of distraction will depend on patient anatomy. However,
neonates with PRS who require distraction to open the airway
present during the 1st month of life, and orthodontic assess­
ment cannot be made. Therefore, one must use basic principles
rather than orthodontic assessment in selecting the vector of
distraction. When utilizing external distraction devices, the
authors utilize a vector roughly parallel to the posterior
border of the ramus. This usually produces distraction
colleagues123 reported on the treatment of severe micrognathia
using external distraction devices. Many reports followed on
the application of internal appliances (Fig. 36.23).
Mandibular distraction osteogenesis (MDO) results in
expansion of the airway through true mandibular lengthen­
ing. The tongue base moves anteriorly by its attachments to
the distracted mandible, pulling the tongue out of the hypo­
pharynx (Fig. 36.24). The aperture of the airway is increased
in anteroposterior and lateral dimensions.124,125 After approxi­
mately 8 mm of distraction, the tongue posture visibly
changes. This change in tongue posture to a normal horizontal
position on the floor of the mouth is a clinical indicator for
the timing of extubation, although definitive evaluation for
resolution of tongue-based airway obstruction requires repeat
nasendoscopy.
Selection of mandibular distraction to address tongue base
position in infants with PRS entails three fundamental deci­
sions: (1) What portion of the mandible is to be lengthened?
(2) What vector of distraction is to be used? (3) What type of
device is to be used? In answer to the first question, infants
with PRS invariably have a short mandibular ramus and
body. The mandibular ramus is “safer” to distract due to its
lack of tooth buds, but surgical access is significantly more
Fig. 36.23  A child with Pierre Robin Sequence treated with mandibular distraction osteogenesis via an intraoral distractor.
A
B
C
D
E
F
G
H

833
Treatment
surgery for removal may be obviated.126,127 If one chooses an
external distraction device, the osteotomy may be created
through an intraoral or an extraoral incision. If one chooses
an intraoral approach, local anesthetic containing epinephrine
is injected over the oblique line and the buccal surface of the
mandible. A lateral vestibular incision is made on both sides.
Subperiosteal dissection is performed to expose the gonial
angles and the posterior mandibular body. Selection of pinhole
sites is very important as this dictates the vector of distraction.
Before placing the percutaneous pins, the skin is bunched and
pulled centrally to create laxity during distraction, thereby
minimizing pin site stretch and scarring as the device is
elongated.
When placing external mandibular distractors, precision in
pin placement is critical, as the neonatal mandible is brittle
and narrow. The authors prefer accessing the mandible
through an intra-oral incision, and placing the distraction pins
percutaneously. The pins should be tested and ensured to be
in good bone stock. It is prudent to place the pins and tem­
porarily affix the distractor before completing the corticoto­
mies, so as to return the mandible to its original reduction
following completion of corticotomies. If distraction is to be
performed to elongate the ramus, then a transverse corticot­
omy is made in the ramus above the occlusal plane to avoid
tooth buds and the inferior alveolar nerve. The corticotomy
can be made with a mechanical saw at the buccal cortex of the
mandible. Following corticotomy, an osteotome is used as a
lever to ensure that the proximal and distal segments are
independently mobile, therefore ensuring that the osteotomy
is complete. Fixation of the distraction device can now be
completed to stabilize the mandible. Note that if the distractor
was completely fixed prior to this point, one could not ensure
completion of the osteotomy, which could predispose to pre­
mature consolidation and/or device failure during distrac­
tion. When placing the distractor on the contralateral side, it
approximately 60° from the occlusal plane, providing
a component of both ramus lengthening and anterior advance­
ment of the pogonion. Autorotation of the mandible second­
ary to ramus lengthening will also bring the chin point
forward. When using internal distraction devices, the authors
distract parallel to the body of the mandible for technical ease
of distractor placement (Video 36.1
). Regarding which type
of device to be used, one may choose between external and
internal devices. Advantages of internal distraction over
external devices include one-to-one bone lengthening with
device activation, whereas external devices may torque at the
pin level and not achieve one-to-one distraction. The internal
device is also less prone to device dislodgement due to trauma
or pin torque in the thin bone of the neonatal mandible, and
there are no stretched scars in the skin that are inherent with
external distraction pins. Disadvantages of internal devices
include the need for wider exposure for device placement,
fixed distraction vector at the time of device placement as
opposed to multidimensional external units, and the need for
a second operation for device removal. As resorbable distrac­
tion devices continue to develop, the need for the second
Fig. 36.24  A child with Pierre Robin Sequence
treated with mandibular distraction osteogenesis via
an external distractor. The mandibular-maxillary
discrepancy was dramatically improved.
Fig. 36.25  Types of mandibular osteotomy described for treatment of micrognathia
in neonates: (A) oblique angle osteotomy; (B) inverted-L osteotomy (author’s
preferred internal distraction technique); (C) vertical ramus osteotomy with or
without coronoidectomy to avoid zygomatic impingement; (D) horizontal ramus
osteotomy (author’s preferred external distraction technique).
A
B
C
D

834
SECTION II
CHAPTER 36 • Pierre Robin Sequence
rate, including an 84% rate of tracheostomy decannulation,
and a 96% rate of improvement in OSA.130 These are similar
rates of success to those quoted in other meta-analyses of all
pediatric MDO for multiple indications, as well as large ret­
rospective series.128,131–133
Concerns regarding MDO are related to more gradual
improvement in the airway, high rates of complications, and
a lack of long-term developmental outcomes data. Depending
on the protocol, distraction usually progresses at a rate of
0.5–2 mm/day. The child may still require prolonged intuba­
tion or tracheostomy while distraction is being performed.
Indeed, a small comparative study of TLA versus MDO found
that MDO patients had a longer mean hospital stay, albeit
with better feeding and respiratory outcomes than TLA.134
Recent analyses of the literature have demonstrated an overall
complication rate of 20.5–43% for mandibular distraction
osteogenesis for varied indications (Figs. 36.26–36.28).130,131,135
The most common complication after MDO is infection, with
a higher rate in external devices. Device failure is also more
common in external devices, with a rate of up to 7.9%. Relapse
has been reported in up to 65% of cases; however, data until
the age of skeletal maturity are lacking. Other significant
complications include hypertrophic scarring in 2–15%; nerve
injury in 6–11%; and anterior open bite in 3%. Damage/
malposition of developing tooth buds is common in MDO,
with some abnormality (most minor) in up to 55–76% of cases
on long-term follow-up.136,137 However, this may be technique-
dependent, because some authors have reported lower rates
of tooth injury.138
Finally, long-term data on the natural history of PRS
patients undergoing MDO are lacking. The procedure itself
requires the periosteum to be stripped and an osteotomy to
be made, and in theory, this could restrict growth. Current
studies of growth after MDO have included patients with
hemifacial microsomia, Nager syndrome, and Treacher
Collins, who do not have normal growth potential.139 Further
long-term studies of MDO in isolated PRS patients to full
skeletal and dental maturity will greatly enhance our under­
standing of the complication profile and long-term facial
growth potential after this procedure.
There is an ongoing debate over whether to choose initial
distraction of the mandible over other methods such as TLA,
nasopharyngeal airway, or intraoral appliances. Some authors
feel that distraction should be a last resort prior to tracheos­
tomy and less invasive measures be attempted first. These
authors express concern over long-term growth of the man­
dible following osteotomies in the neonate, and the potential
for sequelae in mandibular range of motion, dental develop­
ment, and sensation in the territory of the mental nerve. If the
child continues to demonstrate airway difficulties after 6–7
months of age, then the mandibular growth was inadequate
to clear the tongue base sufficiently and distraction may be
warranted. Some feel that mandibular distraction should be
performed earlier in the algorithm for PRS and replace TLA.
Dauria and Marsh140 proposed such an approach. Denny and
Kalantarian104 completed this task successfully in a series of
five consecutive neonates with PRS by performing bilateral
mandibular distraction osteogenesis using external devices.
All neonates avoided tracheostomy, had complete elimination
of respiratory symptoms, and were extubated before comple­
tion of the active distraction process. All five patients remained
extubated without airway support.
is essential to check the placement vector on both sides to
place the distractors parallel. Failure to do so will result in
midline shift and/or alteration of the mandibular occlusal
plane with distraction. The intraoral incisions are then closed
with resorbable sutures. The free motion of the distractors is
checked while in the operating room and then the device is
returned to the starting position. The starting MMD is noted.
Distraction is usually initiated after a latency period of 3
days, and an accelerated rate of distraction of 1.5–2 mm/day
is used in children under 1 year of age to prevent premature
consolidation. The child recovers in the intensive care
unit until the airway is stabilized. The MMD is monitored
to ensure effective distraction. The pins are cleaned with
peroxide, and antibiotic ointment is applied twice daily. Dis­
traction continues until the desired MMD is obtained and the
base-of-tongue obstruction is clinically cleared as confirmed
by nasendoscopy. The consolidation timing varies at different
centers, but the authors recommend a period of 8 weeks.128
When placing internal mandibular distractors, the authors
prefer to use bilateral extraoral incisions made in a subman­
dibular skin fold 0.5–1 cm inferior to the mandibular border.
An incision length of 2.5 cm is adequate to provide access for
device placement; a smaller incision, although feasible, may
not permit placement of some devices. The platysma is then
divided and care must be taken not to injure the marginal
mandibular nerve. One should use a nerve stimulator and
avoid the use of local anesthetic so as to maintain motor nerve
function. The pterygomasseteric sling is incised and the mas­
seter is stripped, and the buccal cortex of the mandible is
exposed. It is important to note that the vector of distraction
is fixed once the device is fixed, and therefore positioning of
the distractor is critical to the final outcome. Due to limited
surface area in the neonatal mandible, fixation of the distal
portion of the device will inevitably be in the region of tooth
roots, so monocortical screws are recommended. The device
is secured prior to completing the osteotomy to ensure correct
vector of distraction, and this vector must be parallel to that
of the contralateral distractor. Thus, placement must be care­
fully planned to allow completion of the osteotomy without
device removal. The authors complete the transverse compo­
nent of the reverse-L osteotomy, which is made cephalad to
the distractor and above the occlusal plane, after fixation of
the device. They do not recommend removing screws once
placed, as insertion and removal of the screws can loosen
purchase in the hypoplastic bone of the neonatal mandible. If
unable to achieve secure screw purchase with the internal
device, move to transmandibular pin placement with an
external device, as has been described.129 The authors’ prefer­
ence is to bring the activation unit out through a stab incision
inferior and posterior to the lobule of the ear for ease of access
during the distraction process, although some surgeons bring
the activation out through an intraoral incision and keep the
device within the mouth.
Proponents of MDO feel that it is the most efficacious
procedure to avoid tracheostomy in PRS. They also believe
airway obstruction caused by the tongue base can be relieved,
scars are cosmetically acceptable, and the mandible can be
redistracted if needed.104 Other proponents cite improved
feeding and polysomnographic outcome compared with
TLA.107 Certainly, MDO has been a successful technique in a
majority of cases of PRS. In a recent meta-analysis of MDO
for pediatric airway obstruction, there was an 89% success

835
Treatment
Fig. 36.26  (A,B) Abnormally positioned second
molars 8 years after second mandibular distraction
osteogenesis.
A
B
Fig. 36.27  Intraoperative view demonstrating the two distal pins of the distraction
device remaining in bone. A fracture has resulted between these pins (small arrow)
distal to the site of premature fusion of the initial osteotomy site (large arrow).
A recent retrospective series by Flores et al. described a
single surgeon’s 15-year experience performing 15 TLAs and
24 MDOs for PRS.107 These procedures were not performed
in concurrent time periods, so there is likely an experience
bias. However, this is currently the largest comparative
study of TLA versus MDO. There were no post-procedure
tracheostomies in the MDO group and four in the TLA
group. The polysomnographic data revealed significantly
better apnea-hypopnea indices and oxygen saturation in the
MDO group at both 1 month and 1 year postoperatively.
In summary, both soft-tissue and skeletal procedures can
successfully clear the airway obstruction in PRS. Current
data appear to indicate that more strict indications must be
utilized for TLA compared with MDO, and long-term data
on both procedures are lacking. In either case, it is important
for full airway evaluation, as neither procedure will resolve a
subglottic airway obstruction. The role of laryngomalacia in
the utilization of either procedure is an evolving concept.29,55
With appropriate indications and preoperative work-up,
good results have been reported with both procedures
overall.29,97,101,107 In a neonate with non-syndromic PRS that
has failed non-surgical measures and presents with isolated
tongue-based airway obstruction in the absence of laryngo­
malacia, the authors prefer to attempt a TLA. If the respiratory
distress is not alleviated, then mandibular distraction osteo­
genesis is warranted. If the child has tongue-based airway
obstruction with no other synchronous airway lesions besides
mild laryngomalacia limited to the supraglottic larynx, or an
associated syndrome that conveys poor growth potential, then
the authors prefer mandibular distraction osteogenesis over
TLA as the initial surgical intervention (Fig. 36.29). Should
this not clear the airway obstruction, tracheostomy is the final
alternative.
Tracheostomy
Surgical management of the airway in children with PRS
may be required in the acute setting. A tracheostomy may
also be unavoidable in certain circumstances, as in the child
with PRS with an infraglottic obstruction, multiple comor­
bidities due to a syndromic diagnosis, central sleep apnea,
or failure of mandibular distraction osteogenesis. However,

836
SECTION II
CHAPTER 36 • Pierre Robin Sequence
Fig. 36.28  (A) A 3-year-old boy with Pierre Robin Sequence with persistent tracheostomy following one attempt at mandibular distraction. (B) Successful decannulation
after second mandibular distraction and tracheal reconstruction.
A
B
the placement of a tracheostomy involves significant mor­
bidity, as well as a small but well-described rate of mortal­
ity.141 The neonatal tracheostomy tube, because of its small
diameter, is prone to mucus plugging and malposition. Some
children with PRS may require the tracheostomy for 2–4
years or more prior to decannulation.142 During this time,
significant granulation tissue formation and stenosis can
occur. It has been suggested that long-term speech, behavior,
and developmental problems are associated with pediatric
tracheostomy.143 Multiple studies have also shown the man­
agement of PRS with tracheostomy to be labor-intensive
and costly.142,144,145 For these reasons, it is the authors’ prefer­
ence to avoid tracheostomy whenever possible in children
with PRS.
Treatment of the nutritional deficit
One cannot forget to treat the feeding difficulties in PRS, as a
malnourished child will have difficulty thriving regardless of
any airway intervention. The neonate has minimal skills for
coordination of the aerodigestive structures beyond that
provided at a reflex level. In PRS, the retrognathia may prevent
anteriorization of the tongue and sufficient latching. Addi­
tionally, oroesophageal motor dysfunction is common in PRS
as previously noted.36,38 All of these factors predispose PRS
patients to feeding difficulty. Involvement of speech and swal­
lowing therapists immediately upon diagnosis of PRS is
imperative in order to optimize nutritional intake.
The typical neonate with PRS should be fed 150–165 mL/
kg per day of 20 kcal/oz formula or breast milk, which
equates to 100–110 cal/kg per day. Optimal weight gain
should be 20–30 g/day. If this weight gain is not observed,
then the supplementation should be increased, combined
with further evaluation. If the child tolerates breast feeding or
is bottle-fed breast milk, it should be fortified with powdered
term formula or medium-chain triglyceride oil instead of
human milk fortifier, as the phosphorus contained may
promote neonatal tetany.
There are many described measures that can be attempted
to aid in feeding. Manual support of the mandible during
feeding can improve the quality of the seal and function of
the labial sphincter. This can also help to relieve the base-of-
tongue obstruction. Another technique is to move the nipple
or bottle in a rhythmic fashion to stimulate better sucking.
Benefit has also been seen in placing the nipple on to the
substance of the tongue.
Breast feeding is often difficult and requires considerable
effort and modification of technique. As a result, many of
these neonates are bottle-fed with specialized bottles and
nipples. The principle of specialized bottle-feeding is to allow
a steady stream of milk, usually by a modified Haberman
nipple that prevents negative-pressure build-up, and a soft
bottle for the parent to regulate outflow.57 These nipples are
usually softer and longer than traditional nipples. The nipple
is long enough to allow contact with the tongue, but not long
enough to promote gagging.
If the neonate is unable to take adequate oral feeds with
specialized nipples and bottles, then nasogastric or orogastric
feeds should be administered. A majority of PRS patients will
require these types of feedings for some time.34,45,57 One must
be mindful that the use of a feeding tube may increase the risk
for the development of gastroesophageal reflux. The place­
ment of a gastrostomy tube for long-term feeds may be
required, but the utilization of these is largely institution-
dependent and thus difficult to compare between reports.146
The placement of a gastrostomy should be decided based on
reflux, complete feeding analysis by speech therapy, and the
overall syndromic picture of the patient.
Importantly, maintenance of an open airway while
trying to feed uses a great deal of calories, contributing to
the overall deficit in the Pierre Robin patient. Relieving the
airway obstruction will allow the child to overcome feeding
difficulties and gain weight. Several studies have shown
significant improvement in feeding function after MDO
and TLA.59,98,100,129
Treatment of otologic conditions
Placement of myringotomy tubes has been shown to be
effective in preventing recurrent bouts of otitis media and
may restore normal levels of hearing. These children should
be followed closely by a pediatric otolaryngologist. The

837
Treatment
Fig. 36.29  Overall algorithm for assessment and treatment for a child suspected of having Pierre Robin Sequence. MMD, maxillary–mandibular discrepancy; CNS, central
nervous system.
Pierre Robin sequence
Desaturations
No desaturations
Nasoendoscopy
and
bronchoscopy
Sleep study
Pulse oximetry
Measure MMD
Speech assessment
No obstruction
visualized
Infraglottic/glottic
obstruction
Tracheostomy
Search for primary
CNS or
pulmonary source
Supraglottic/tongue
base obstruction
Positioning
Continued
desaturations
Oral plate or
nasopharyngeal
stenting
Continued
desaturations
Tongue lip
adhesion
Continued
desaturations
Continued
desaturations
Tracheostomy
Distraction
Osteogenesis
Sleep disturbance
identified
See ‘desaturations’
Yes
Yes
No
No
See ‘desaturations’
Feeding difficulties
No sleep
disturbance
identified
Desaturations
with feeding
Nasogastric tube
feedings
Observation and
parental education