Orthognathic Surgery

1041
CHAPTER 26  Obstructive Sleep Apnea: Evaluation and Treatment
F
G
12 mm advancement
Mandibular counter
clockwise rotation
Arch expansion
Respiratory disturbance index  10/hr
Respiratory disturbance index  37/hr
F, Articulated dental casts that indicate analytic model planning. G, Lateral cephalometric radiographs before
and after surgery.
• Figure 26-13, cont’d

Orth
r ognathic Surg
r ery; J.C. Posnick
Orth
r ognathic Surg
r ery; J.C. Posnick
Orth
r ognathic Surg
r ery; J.C. Posnick
Orth
r ognathic Surg
r ery; J.C. Posnick
A
B
• Figure 26-14  A 34-year-old man was referred by his orthodontist for a surgical evaluation of a longstanding dentofacial deformity with maloc­
clusion. Examination confirmed a long face asymmetric Class III growth pattern with an anterior open-bite, negative overjet, posterior crossbite
malocclusion. During the mixed dentition, growth modification maneuvers were attempted. Compensatory orthodontic mechanics were then used
but did not result in correction. A residual gummy smile with lip incompetence and asymmetric Class III negative overjet malocclusion remained.
The patient had undergone septoplasty and tonsillectomy when he was 20 years old in an attempt to improve the airway but without success. At
referral to this surgeon, the patient’s history confirmed ongoing heavy snoring, difficulty sleeping at night, an inability to breathe through the nose,
and excessive daytime fatigue. The patient underwent an attended polysomnogram that confirmed a respiratory disturbance index of 19 events/
hour, with desaturations reaching as low as 84%. A continuous positive airway pressure titration study was carried out, and the use of continuous
positive airway pressure was attempted; however, as a result of side effects, it was not practical for this patient. A head and neck examination
documented a severely deviated septum, enlarged inferior turbinates, an elevated nasal floor, narrow pyriform rims, a soft palate that was close to
the pharyngeal wall, and a retropositioned tongue. The tonsils had previously been removed, and the tongue and soft palate were of normal size.
A, Frontal views in repose before and after surgery. B, Frontal views with smile before and after surgery.

Orth
r ognathic Surg
r ery; J.C. Posnick
Orth
r ognathic Surg
r ery; J.C. Posnick
Orth
r ognathic Surg
r ery; J.C. Posnick
Orth
r ognathic Surg
r ery; J.C. Posnick
C
D
The patient hoped to achieve improved breathing during the day, better sleeping at night, and the relief of excessive
daytime fatigue. He also desired the correction of his malocclusion to improve swallowing, speech, chewing, and lip closure as well as to enhance
his profile and smile aesthetics. He agreed to a comprehensive orthodontic and surgical approach. No extractions were required, and the orthodontic
relief of dental compensation was accomplished. The patient’s jaw and intranasal procedures included maxillary Le Fort I osteotomy in three seg­
ments (horizontal advancement +8 mm, vertical shortening −1.0 mm, dental midline correction, clockwise rotation of 2 mm, and arch expansion)
with interpositional graft; bilateral sagittal split osteotomies of the mandible (horizontal advancement +2 mm); osseous genioplasty (vertical shorten­
ing and minimal horizontal advancement); and inferior turbinate reduction, septoplasty, and recontouring of the nasal floor. The patient experienced
immediate relief of his snoring as well as improvements in quality of sleep, ability to breathe through the nose during the day, and daytime fatigue.
An attended polysomnogram was carried out 4 months after surgery and demonstrated the relief of apnea in all sleep positions other than supine.
When sleeping supine, mild obstructive sleep apnea remained, but there were no longer any significant desaturations. C, Oblique facial views before
and after surgery. D, Profile views before and after surgery.
• Figure 26-14, cont’d 
Continued

1044 SECTION 3  Classic Patterns and Presentations of Dentofacial Deformity
Prior to retreatment
Pre surgery
After treatment
E
E, Occlusal views before retreatment, with orthodontic appliances in place, and after treatment.
• Figure 26-14, cont’d

1045
CHAPTER 26  Obstructive Sleep Apnea: Evaluation and Treatment
F
G
10 mm maxillary advancement
Arch expansion
Respiratory disturbance index  13/hr
Respiratory disturbance index  51/hr
F, Articulated dental casts that indicate analytic model planning. G, Lateral cephalometric radio­
graphs before and after surgery.
• Figure 26-14, cont’d 
with general anesthesia in conjunction with orthognathic
and intranasal procedures are expected to be greater among
adults with OSA than among teenagers. These risks may
include the potential for stress to the cardiovascular, renal,
and respiratory systems (see Chapters 11 and 16).
The advantage of a combined intranasal and jaw opera­
tion for the individual with OSA is that, like CPAP, such a
procedure effectively addresses all of the obstructing upper
airway sites simultaneously (i.e., intranasal, retropalatal, and
retroglossal). Straightening the septum; reducing the infe­
rior turbinates; widening the maxilla and the piriform rim
(i.e., segmental Le Fort I osteotomy), if indicated; and
recontouring (deepening) the nasal floor, if indicated—in
combination with MMCA—dramatically opens the whole
upper airway. Posnick and colleagues have confirmed that
jaw and intranasal procedures can be carried out simultane­
ously without increasing complications.278
If the individual requires tonsillectomy, UPPP, or both,
then the procedures are carried out separately from the jaw
and intranasal operations. This is done because the national
reported incidence of significant postsurgical bleeding after
UPPP or tonsillectomy is 2% to 4%. In this author’s prac­
tice, amputation of an elongated uvula (i.e. without the
resection of the soft palate) when indicated to further
improve the retropalatal airway site is frequently carried out
simultaneously with the jaw and intranasal surgery; this is
relatively free of risk, and it will avoid the need for a second
round of surgery, anesthesia, and recovery.

1046 SECTION 3  Classic Patterns and Presentations of Dentofacial Deformity
does not make sense for the 21st century. The soft palate is
a dynamic tissue organ with the primary function of pre­
venting the reflux of air and liquids into the nasopharynx
during speech and swallowing. Unfortunately, partial surgi­
cal ablation or resection of the soft palate (i.e., UPPP) may
produce dysfunction, such as velopharyngeal insufficiency,
stenosis, voice changes, dysphagia, or silent apnea. In addi­
tion, immediate postoperative concerns of pain, hemor­
rhage, and upper airway obstruction must also be considered.
For these reasons, a case can be made for treating the most
severe and critical site or area of obstruction first. This
will frequently mean performing MMCA initially and then
following up later with soft-tissue procedures, when indi­
cated. This skeletal approach will enlarge and stabilize the
entire velo-orohypopharyngeal upper airway to definitively
treat the OSA and frequently to obviate the need for
other soft-tissue procedures (e.g., UPPP, tongue reduction,
tonsillectomy).
To review, treatment recommendations for OSA should
be made in accordance with the patient’s specific anatomic,
physiologic, and psychosocial factors. OSA is commonly
the result of multiple anatomic deformities that are correct­
able. The concept of a Phase I soft-tissue approach that is
followed by Phase II skeletal procedures as a last resort
should be discarded in favor of treating the specific ana­
tomic abnormalities that are contributing to the individual’s
OSA, preferably during a single operation.104
Review of Published Studies concerning
Maxillomandibular Advancement Surgery
Critical commentary in the earlier medical literature regard­
ing the spectrum of surgical options may leave sleep physi­
cians and others skeptical of the efficacy of any operative
procedure for their patients with OSA. With the use of nasal
CPAP as the reference for OSA therapy, a standard for a
successful outcome has been established; this standard
defines an acceptable compliance rate as 4 hours of CPAP
per night for 70% of nights. However, this represents only
approximately 50% of sleep time involving a normal airway.
Li suggested that an equivalent standard for rating a suc­
cessful surgical outcome is a 50% reduction in the RDI and
fewer than 20 events/hour.200 If we keep this proposed stan­
dard for treatment success in mind, then the literature
clearly supports an MMA approach to OSA. Clinical studies
that were published between 1989 and 2012 and that were
carried out to evaluate the effectiveness of MMA as a treat­
ment approach for OSA are reviewed in the remainder of
this section.
Waite and colleagues described 23 consecutive patients
with OSA documented by PSG (RDI range, 11 events/hour
to 104 events/hour) who underwent MMA in addition to
septoplasty and inferior turbinate reduction.381 Twenty-two
of 23 (96%) of the study patients were successfully treated.
Successful treatment was based on achieving an RDI of less
than 20 events/hour or that represented a more than 50%
reduction in RDI. Sixty-five percent of the patients (15/23)
achieved an RDI of less than 10 events/hour.
The Maxillary–Mandibular–Chin
Advancement Option
Background
Clinicians now recognize that maxillomandibular deficiency
results in reduced pharyngeal airway dimensions and
that it can, on its own, lead to or be an additive factor for
OSA in both children and adults (see Figs. 26-4 through
26-14).11,17,154,158,162,184,239,271,285,341,354,363,380,383,390 Mandibular
advancement was first suggested in 1979 by West and col­
leagues as an alternative to tracheostomy for the treatment
of OSA.181 By the early 1980s, Riley and colleagues further
documented the value of mandibular advancement surgery
that is specifically carried out for the treatment of OSA.297,306
They advocated simultaneous maxillary and mandibular
advancement (MMA) to open the upper airway and to
diminish apnea episodes among appropriate individuals
with OSA. This surgical approach has consistently been
shown to be a highly effective modality for opening the
whole upper airway passage for individuals with OSA* (see
Figs. 26-4 through 26-14).
Prinsell and colleagues stated the following: “MMA
surgery for obstructive sleep apnea syndrome is a highly
successful and potentially definitive primary single-stage
surgery that may result in a significant reduction in OSA-
related health risks, as well as financial savings for the
health care system.”284,285 Li and colleagues reached the
same conclusion and stated the following: “Maxilloman­
dibular advancement surgery is the most effective pro­
cedure for OSA.”197 In a surgical update published by
the American Association of Oral and Maxillofacial Sur­
geons, Moore affirmed these conclusions: “Jaw advance­
ment surgery is better tolerated and has a far more significant
and beneficial effect than most airway soft tissue surgical
procedures [for OSA]. Excellent long-term [5-year] results
have been documented with favorable effects on quality
of life.”238
The abundance of published data now confirms that
those individuals with documented OSA; anatomic find­
ings of minimal tonsillar tissue and minimal redundant
pharyngeal soft tissues; and physical findings of recessive
jaws will not sufficiently respond to surgical procedures that
are less thorough than MMCA. With today’s state of knowl­
edge, a treatment philosophy that suggests that an indi­
vidual with documented OSA must “fail” Phase I soft-tissue
reduction surgery before proceeding to Phase II skeletal
expansion surgery” is like saying that a patient with a
complex tumor defect must first fail a skin graft before
undergoing an effective vascularized flap reconstruction.209
Although an automatic “soft-tissue first” and “step-wise”
surgical approach to OSA made sense during the 1980s, it
*References 3, 17, 24, 29, 55, 56, 59, 62, 82, 83, 109, 123, 131, 141-145,
149, 177, 179, 196, 197, 199, 200, 203, 208, 214, 222, 225, 227, 251,
274, 279, 283, 284, 287, 299, 300-303, 306, 311, 321, 347, 371, 372,
379, 381, 382, 397

1047
CHAPTER 26  Obstructive Sleep Apnea: Evaluation and Treatment
surgery, and the success rate of the Phase I procedures was
only 22.7% (10 of 44 patients). Twenty of the 51 patients
underwent MMA, including 13 patients for whom Phase I
surgery had failed and 7 who underwent MMA as the
primary treatment. On average, the AHI decreased from 59
events/hour to 11 events/hour after the MMA procedure.
Overall, 15 of the 20 individuals undergoing MMA (75%)
were considered to have successful outcomes.
Li and colleagues studied a consecutive series of 12
individuals with OSA that had been documented by PSG
(mean RDI, 75 events/hour) and who had undergone
MMA.197 The authors were able to demonstrate a de­
crease in airway obstruction and collapse after MMA as
documented by lateral cephalometric radiographs and by
fiber-optic nasopharyngoscopy during passive respiration.
Postoperative fiber-optic nasopharyngoscopy with the
Müller maneuver specifically documented a decrease in
airway collapsibility; an improvement in the retro displace­
ment of the tongue base; and an improvement in lateral wall
stability. The mean preoperative RDI was 75 events/hour,
which improved by 6 months after surgery to 10.8 events/
hour. Ten of the 12 patients who had been treated with
MMA (83%) were felt to be cured (RDI <20 events/hour).
Fairburn and colleagues described 20 consecutive
patients with PSG-documented OSA (AHI range, 26
events/hour to 134 events/hour) who had undergone MMA
with at least 10 mm of mandibular advancement.82 Eigh­
teen of the 20 study patients (90%) were successfully
treated. Successful treatment was based on the achievement
of a significant reduction in the AHI. Ten of the 20 study
patients (50%) achieved an AHI of less than 10 events/
hour. There was a mean improvement of 60 events/hour. In
addition, there was a measured enlargement of the upper
airway space (in both the lateral and the anteroposterior
dimensions) for all patients at all levels.
Vicini and colleagues completed a prospective, ran­
domized, controlled trial to assess the effectiveness of surgery
versus ventilation in adults with documented severe OSA
(AHI average of >30 events/hour; range, 31 events/hour to
87 events/hour).376 Fifty consecutive subjects who had
severe OSA were enrolled and randomized into a conserva­
tive treatment group (i.e., auto-titrating positive air pres­
sure) or a surgical treatment group (i.e., MMA). One year
after MMA surgery or continuous auto-titrating positive air
pressure treatment, both groups showed a remarkable
improvement of mean AHI and ESS levels. The degree of
improvement was not statistically different between the two
groups. The MMA group (n = 25) had a mean age of 49
years, with a mean BMI of 32.7 kg/m2 and a mean preop­
erative AHI of 56.8 events/hour. After MMA surgery, the
mean postoperative AHI dropped to 8.1 events/hour ± 7.0.
There were no fatal events, no significant bleeding events,
and no complications that required a surgical revision pro­
cedure. According to a survey questionnaire, the subject’s
personal perception of the overall surgical experience was
highly satisfactory. Twenty-four of the 25 patients stated
they could “go through the operation all over again.” MMA
Riley and colleagues reported on 40 patients with OSA
documented by PSG who underwent maxillomandibular
advancement.302 Thirty-nine of the 40 study patients (97%)
were successfully treated. Successful treatment was based on
achieving a postoperative RDI of less than 20 events/hour
or a more than 50% reduction in RDI and normal or near
normal oxygen saturation. A mean presurgical RDI of 67
events/hour was reduced to 9 events/hour.
Riley and colleagues described 306 consecutively treated
surgical patients with PSG-documented OSA.305 A two-
phase surgical protocol was used to reconstruct the upper
airway. Phase I surgery consisted of UPPP and genioglossus
advancement with hyoid myotomy suspension. Patients for
whom Phase I surgery was unsuccessful were offered Phase
II reconstruction in the form of maxillomandibular advance­
ment. Surgery was considered successful if the postoperative
RDI was less than 20 events/hour with normal oxygenation.
Ninety-one patients who failed Phase I treatment entered
the Phase II protocol. All patients who underwent Phase
II treatment (i.e., maxillomandibular advancement) also
had perioperative orthodontics. The success of Phase II
therapy was 97% (i.e., RDI <20 events/hour with normal
oxygenation).
Hochban and colleagues discussed 38 consecutive
patients with OSA documented by PSG (RDI >20 events/
hour) who underwent MMA (10-mm maxillary advance­
ment); 37 of 38 of the study patients (95%) were success­
fully treated.144 Successful treatment was based on achieving
a postoperative AHI of less than 10 events/hour. This clini­
cal series included only healthy, non-obese patients with a
documented dentofacial skeletal deformity.
Prinsell reported on 50 consecutive patients with PSG-
documented OSA (mean AHI, 59 events/hour) who under­
went MMA, with or without adjunctive procedures.283 All
50 patients were successfully treated. Successful treatment
was based on the achievement of a postoperative AHI of 5
events/hour or less or a more than 60% reduction in RDI.
Li and colleagues described 175 patients with PSG-
documented OSA (mean RDI, 72 events/hour) who under­
went MMA.200 One hundred sixty-six of the 175 patients
(95%) were successfully treated. Successful treatment was
based on achieving a postoperative RDI of less than 20
events/hour or a more than 50% reduction in RDI. The
mean preoperative RDI of 72 events/hour was reduced to
a mean postoperative RDI of 7.2 events/hour. Eighty-six of
the 175 patients (49%) had undergone ineffective Phase I
surgery before MMA. The cure rate for these patients in this
study was 97% (83 out of 86). The mean age of the patients
in this study who underwent Phase II treatment (i.e.,
MMA) was 44 years.
Bettega and colleagues completed a prospective study
of a consecutive series of individuals (n = 51) with severe
OSA (mean AHI, 59 events/hour).29 All of these patients
underwent surgical therapy. The surgery was considered
successful if the postoperative AHI was less than 15 events/
hour with at least a 50% reduction from presurgical rates.
Forty-four of the patients initially underwent Phase I

1048 SECTION 3  Classic Patterns and Presentations of Dentofacial Deformity
Fifty-six patients from three specific studies reported the
long-term success rates after MMA procedures. With an
average follow-up period of 43.7 months, an 89% success
rate was documented. Univariant and multivariant predic­
tors of MMA surgical success were younger age; lower pre­
operative AHI; lower BMI; and greater degree of maxillary
advancement accomplished. Older age (>60 years) and
higher BMI (>33 kg/m2) were negative predictors of a suc­
cessful outcome. However, according to the study results,
this does not mean that even those patients with negative
predictors cannot experience significant improvement.
Prinsell completed a literature survey and made treat­
ment recommendations regarding both primary and sec­
ondary MMA with or without adjunctive procedures for
adults with OSA.44,285 A critical review of all published
studies that included six or more cases per series of
MMA and other multilevel surgery in adults that also doc­
umented preoperative and postoperative AHI was con­
ducted. The AHI data from the case series were tabulated
into categories of surgery from which the mean percent
reduction of AHI was calculated and used as the primary
measure of PSG therapeutic efficacy. The review of pub­
lished studies indicates a mean percent reduction in AHI
as follows:
• An 88.4% reduction of AHI for primary MMA
• An 86.6% reduction of AHI for secondary MMA
• A 79.4% reduction of AHI for primary MMA with
combined intrapharyngeal procedures
• A 92.1% reduction of AHI for primary MMA with
combined extrapharyngeal procedures
• A 53% reduction of AHI for non-MMA multilevel
surgery
• A 31.3% reduction of AHI for UPPP
• An 89.8% reduction of AHI for nasal CPAP
The authors concluded that both primary and secondary
MMA are highly therapeutic because they are extrapharyn­
geal procedures that open the entire velo-orohypopharyngeal
airway via skeletal advancement with minimal risk of post­
operative airway compromise.
Goodday and Bourque completed a prospective study
to evaluate subjective outcomes and the use of CPAP after
MMA surgery for the treatment of OSA. A self-administered
questionnaire was completed preoperatively and postopera­
tively by the study patients (n = 16) who underwent MMA
for OSA during a 10-year period from 2000 to 2010. The
questionnaire included the ESS as well as questions about
snoring, witnessed apneas, CPAP use, and overall individual
personal satisfaction. Preoperatively, 40% of patients were
very sleepy (ESS scores of ≥16), 32% were sleepy (ESS
scores of 10 to 16), and 28% were not sleepy (ESS scores
of ≤10). After surgery, only one patient (<1%) was very
sleepy, 9% were sleepy, and 90% were not sleepy. Surgery
was also found to decrease snoring by 83%, witnessed
apneas by 94%, and CPAP use by 96% (P < .001). The
surgery was judged to be worthwhile by 89% of patients,
proved to be a valuable alternative therapeutic tool in adults
with severe OSA, with a success rate equivalent to that of
therapeutic ventilation treatment.
Ronchi and colleagues completed a study to evaluate
the effectiveness of MMA in patients with PSG-documented
OSA.311 Two groups with different skeletal patterns were
studied. Group I (n = 11) had moderate or severe OSA and
cephalometrically documented mandibular deficiency (i.e.,
a sella–nasion–A-point angle of ≤78 degrees or a sella–
nasion–B-point angle of <65 degrees and a Class II maloc­
clusion). Group II (n = 11) had moderate or severe OSA
without cephalometrically documented maxillomandibular
hypoplasia (i.e., a sella–nasion–A-point angle of >80 degrees
and a Class I malocclusion). Preoperative and postoperative
data collected included AHI; posterior airway space mea­
surement; sella–nasion–A-point and sella–nasion–B-point
angles; ESS scores; body mass index; and a subjective stan­
dardized questionnaire about facial aesthetics. Results docu­
mented that all patients (Groups I and II) achieved increased
posterior airway space and the remission of OSA and that
both groups were comparable. All patients were satisfied
with the functional and aesthetic results achieved. In Group
I, AHI decreased from 57.9 events/hour to 7.0 events/hour
after surgery. Five patients reported slight improvement and
six reported great improvement in their aesthetic results. In
Group II, AHI decreased from 50.7 events/hour before
surgery to 7.6 events/hour after surgery. Five patients
reported slight improvement, five reported no changed, and
one reported great improvement in facial appearance. No
patients (Group I or II) reported a worsening of the aes­
thetic appearance. The study confirms that MMA is effec­
tive for patients with moderate to severe OSA and even in
those who are considered to have cephalometrically normal
skeletal and Angle-classified occlusions.
Holty and Guilleminault completed an extensive meta-
analysis of the outcomes of MMA surgery. A total of 627
patients from 42 study populations were identified from a
review of 914 reports.149 The mean age was 44.4 years, and
88% of the study subjects were men. The mean postsurgical
follow-up period was 5.3 months, and 67% of patients had
previously undergone less invasive OSA treatment proce­
dures without success. The MMA surgical success rate was
86%. As a result of the MMA procedures, the following
occurred:
1. BMI decreased from 30.4 kg/m2 to 29.4 kg/m2.
2. AHI improved from 63.9 events/hour to 9.5 events/
hour.
3. Oxygen nadir improved from 71.9% to 87.7%.
4. AI improved from 34.7 events/hour to an average of
1.6 events/hour.
5. Quality of life assessments documented a 72% abso­
lute reduction in depression and irritability.
6. Systolic blood pressure improved from 139 mm Hg
to 124 mm Hg.
7. Improvement in rapid eye movement sleep and Stage
III or IV sleep was significant.

1049
CHAPTER 26  Obstructive Sleep Apnea: Evaluation and Treatment
significantly relieve the individual’s apnea events. Achieving
and maintaining a normal BMI and avoiding medications
that negatively affect oropharyngeal muscle tone are also
clear objectives. The concept of soft-tissue (intra pharyn­
geal) surgery being performed first and only later followed
by skeletal (jaw advancement) surgery is antiquated. Con­
temporary thinking aims to tailor treatment to match each
patient’s set of anatomic deformities.
Clinical studies confirm that MMCA—often in combi­
nation with intranasal procedures (septoplasty, inferior tur­
binate reduction, and nasal floor recontouring) and limited
uvulectomy (if indicated)—is relatively safe and highly
effective for the treatment of OSA when multiple sites
of upper airway narrowing are present. Published studies
consistently document that MMCA is the most effective
surgical alternative to tracheostomy, with results that are
comparative to the therapeutic efficacy of nasal CPAP.
and 95% of patients said that they would recommend the
treatment to others with OSA.
Conclusions
The public health burden that is attributable to sleep disor­
ders is undisputed, and the derangements that result from
these disorders are both behavioral and pathophysiologic.
The fundamental problem associated with an OSA event is
the inability to maintain upper airway patency during sleep,
which then results in a reduction (i.e., hypopnea) or a ces­
sation (i.e., apnea) of breathing. The obstruction can occur
at any level of the upper airway. It is critical to diagnose the
sites of obstruction so that effective treatment can proceed.
For the majority of individuals with moderate to severe
OSA, all of the sites are at least partially obstructed. All
areas of obstruction will likely require improvement to
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1059

SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
27
Treacher Collins Syndrome:
Evaluation and Treatment
JEFFREY C. POSNICK, DMD, MD
• Inheritance, Genetic Markers, and Testing
• Considerations during Infancy and into Early
Childhood
• Dysmorphology with Treacher Collins
Syndrome
• Facial Growth Potential with Treacher Collins
Syndrome
• Classification of Temporomandibular Joint
and Mandibular Malformation
• Staging of Skeletal Reconstruction: Timing
and Techniques
• Indications for First-Stage Mandibular
Reconstruction in the Newborn
• Indications for First-Stage Mandibular
Reconstruction during the Mixed Dentition
• Nasal Reconstruction
• Facial Soft-Tissue Reconstruction
• External Ear Reconstruction
• External Auditory Canal and Middle-Ear
Reconstruction
• Conclusions
The adult patient with fully expressed TCS has a convex
horizontally deficient facial profile with a prominent nasal
dorsum above a retrusive lower jaw and chin (Fig. 27-1).
The eye region is characterized by an antimongoloid slant
of the palpebral fissure as a result of colobomata and hypo­
plasia of the lower lids and the lateral canthi, including the
partial absence of the eyelid cilia and inferolateral orbital
hypoplasia and dystopia. Tongue-shaped processes of hair
frequently extend into the preauricular region. The external
ears are absent, malformed, or malposed and hearing is
impaired as a result of variable degrees of hypoplasia of the
external auditory canals and the ossicles of the middle ears.
A characteristic finding is hypoplasia of the malar bones,
often with clefting through the arches and limited forma­
tion of the residual zygomas, including the glenoid fossa
component. The maxilla and mandible bones are also char­
acteristically hypoplastic, with variable effects on the tem­
poromandibular joints (TMJs), the muscles of mastication,
and the muscles of facial expression. Interestingly, hypopla­
sia of the centrally located soft tissues of the face is not seen
with TCS. In general, there is an Angle Class II anterior
open-bite malocclusion and a steep clockwise-rotated max­
illomandibular complex. The posterior facial height is short,
and the anterior lower facial height is long. The A-point–to–
B-point relationship in profile is consistent with the clock­
wise rotation of the jaws. The presence of cleft palate (with
or without cleft lip and choanal atresia of the nasal cavity)
is variable. Dental anomalies are present in 60% of indi­
viduals; these include tooth agenesis (33.3%), enamel opac­
ities (20%), and the ectopic eruption of the maxillary first
molars (13.3%).
Individuals with TCS have a reduced cranial base angle
(i.e., basilar kyphosis). Craniosynostosis is not a feature of
TCS, but the neurocranium may have an abnormal shape
(i.e., decreased anteroposterior length and diminished
bitemporal width) that is evident during childhood and
remains through adulthood. 110 The degree of craniofacial
malformation present at birth is believed to be relatively
stable and non-progressive with age (this is discussed in
more detail later in this chapter). TCS should not be
Treacher Collins syndrome (TCS), which is also known as
mandibulofacial dysostosis, is an autosomal dominant condi­
tion with variable expressivity.* It is generally characterized
by bilaterally symmetric abnormalities of the structures
within the first and second branchial arches. Early descrip­
tions are attributed to Berry,10 Treacher Collins,51 and Fran­
ceschetti and Klein.41 To date, the physical findings of many
hundreds of individuals and families with TCS have been
published in the world literature.
*References 6, 9, 24, 26-28, 38, 41, 42, 46, 50, 51, 56, 57, 65, 78, 79,
84, 96, 116, 117, 126, 128, 138, 157

1060 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
• Figure 27-1  An 11-year-old boy with fully
expressed Treacher Collins syndrome. His eyes are
characterized by an antimongoloid slant of the pal­
pebral fissures as a result of colobomata and hypo­
plasia of the lower lids and the lateral canthi,
including the partial absence of the eyelid cilia and
inferolateral orbital dystopia. The appearance of the
malpositioned adnexal structures is a reflection of
both zygomatic–orbital dystopia and hypoplasia of
the soft tissues. The maxilla and the mandible are
also deficient and malformed. The patient demon­
strates a Type IIA mandibular malformation. The
external ears are malformed and lack antihelical
folds. A, Frontal facial and three-dimensional com­
puted tomography scan views. B, Oblique facial and
three-dimensional computed tomography scan
views. C, Profile facial and three-dimensional com­
puted tomography scan views.
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1061
CHAPTER 27  Treacher Collins Syndrome: Evaluation and Treatment
in an individual with a pathogenic TCOF1 mutation. For
this reason, testing is acceptable for individuals with any
degree of severity of TCS features to confirm or refute the
diagnosis.
Prenatal diagnosis for pregnancies that are at increased
risk for TCS is possible via the analysis of DNA extracted
from fetal cells obtained by amniocentesis; this is usually
performed at about 15 to 18 weeks’ gestation. Chorionic
villus sampling can also be used for diagnosis at about 10
to 12 weeks’ gestation. The malformation-causing allele of
an affected family member must be identified before prena­
tal testing can be performed.
Considerations during Infancy and into
Early Childhood
At the time of the birth of a child with TCS, concerns
will center on the adequacy of the airway, swallowing,
feeding, hearing, vision (corneal protection), the presence
of cleft palate (with or without cleft lip), any other associ­
ated malformations, and the psychosocial well-being of the
family.8,17,27,31,77,94,95,101,103,104,120,160 The airway may be com­
promised as a result of multiple factors. The first is maxillary
hypoplasia, which occurs with a degree of choanal stenosis
or atresia with the blockage of the nasal airway. Second,
mandibular micrognathia with a retropositioned tongue
that at least partially obstructs the oropharyngeal and hypo­
pharyngeal spaces will be present. In addition, tracheoma­
lacia, vocal cord anomalies, or neuromotor involvement
may also negatively affect the upper airway. Depending on
the severity of the anomalies, a spectrum of upper airway
compromise may necessitate, at a minimum, special infant
positioning, an extended hospital stay, and pulse oximetry
monitoring. Surgical considerations for the management of
airway compromise in the infant or young adult may
include tongue–lip adhesion, the use of a custom-made oral
confused with similar entities such as oculo–auriculo–ver­
tebral dysplasia or Goldenhar syndrome. Distinguishing
facial features of patients with TCS often include coloboma
of the lower eyelids; the upper eyelids are more likely
affected among patients with Goldenhar syndrome.
Inheritance, Genetic Markers,
and Testing
The occurrence of TCS is in the range of 1 in 25,000 to 1
in 50,000 live births. Inheritance is autosomal dominant,
and male and female individuals are equally affected.51
About 60% of probands with TCS have the disorder as the
result of a de novo gene mutation. Each child of an indi­
vidual with TCS has a 50% chance of inheriting the muta­
tion (Fig. 27-2). Teber and colleagues identified TCOF1
mutations in 28 out of 36 (78%) individuals with a clini­
cally unequivocal diagnosis of TCS.147 The most frequent
clinical findings were downward-slanting palpebral fissures,
hypoplasia of the zygomatic complex, hypoplasia of the
mandible, conductive deafness, any degree of microtia, and
atresia of the external ear canal. Although there were inter­
familial and intrafamilial variations that ranged from mild
to severe, there were no genotype or phenotype correlations.
Four clinically unaffected parents were heterozygous for the
TCOF1 mutation. The authors concluded that modifying
factors are important for phenotypic expression.
Genetic counseling for TCS is the process of providing
individuals and families with information about the nature,
inheritance, and implications of the syndrome to help them
make informed medical and personal decisions. Molecular
testing should be considered for any individual who pres­
ents with at least two major features or three minor features
of TCS.30,32,34,62,63,72,85,88,89,154,161,165 Until recently, penetrance
in TCS was believed to be complete. Marres and colleagues
confirmed the absence of clinical and radiographic findings
• Figure 27-2  This mother and daughter demonstrate the extent of variation
in the expression of Treacher Collins syndrome within a family. The mother
was not aware that she carried the Treacher Collins gene until after the birth
of her daughter. From Posnick JC: Treacher Collins syndrome: perspectives
in evaluation and treatment, J Oral Maxillofac Surg 55:1120, 1997.
©Elsevier Inc.
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1062 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
appliance, immediate or delayed tracheostomy, or an urgent
mandibular advancement procedure.
As a result of any compromise in nasal and oral breathing
and associated musculoskeletal malformations, the newborn
with TCS may also have difficulty with swallowing and with
achieving an adequate lip seal to the extent that urgent
gavage-assisted feedings or the placement of a gastrostomy
tube may be required to ensure adequate nutrition.
When a cleft of the secondary palate is documented,
potential additive effects on the airway before and after
repair must be considered. When Nager syndrome is
present, the soft palate is both clefted and severely hypo­
plastic to the extent that the achievement of a functioning
palate is not feasible.65,96 A primary pharyngeal flap—
although helpful for velopharyngeal function—is rarely
indicated, because further obstruction of the airway would
likely result. Evaluation by a medical geneticist is indicated
to clarify the diagnosis and all presenting anomalies, to
discuss family planning issues, and to analyze chromosomal
studies.
Within a few days of birth, the results of an examination
by an experienced pediatric otolaryngologist in combination
with formal audiology testing will clarify the extent of con­
ductive hearing loss and allow for the early fitting of hearing
aids to assist the infant with the acquisition of communica­
tion skills and encourage the normal bonding process with
the family.
At some point early in life, a complete craniofacial com­
puted tomography (CT) scanning from the top of the skull
through the cervical spine with three-dimensional reforma­
tion will be useful to document the extent of craniofacial
skeletal anomalies. Special focused cuts through the petrous
temporal bones are also required to document external
auditory canal and middle and inner ear anatomy. Appro­
priate craniofacial, maxillofacial, cleft lip and palate, and
auricular reconstructive surgeons should also be consulted,
as indicated.
An assessment by a pediatric ophthalmologic is necessary
to determine associated eye anomalies, extraocular muscle
function, corneal exposure difficulties, and visual acuity.
Ophthalmologic issues may include vision loss (37%),
amblyopia (33%), refractive errors (58%), anisometropia
(17%), and strabismus (37%). Interestingly, it has been the
impression of many clinicians and scientists that the indi­
vidual with TCS has a tendency toward a short stature, at
least early in life, and that above-average intelligence is
generally observed.
Dysmorphology with Treacher
Collins Syndrome
Cranio–Orbito–Zygomatic Region
In earlier published studies, 14 reproducible cranio-orbito-
zygomatic measurements taken from each of 26 standard
axial CT scans of individuals with symmetric forms of TCS
who had not been operated on were compared with the
measurements of age-matched controls.110 The interorbital
measurements (i.e., medial and lateral orbital wall separa­
tions) of the patients with TCS were at the mean when
compared with their cohort group (i.e., no measurable
orbital hypertelorism or hypotelorism), whereas the zygo­
matic measurements were significantly less than normal,
thereby confirming the extent of malar hypoplasia. The
congenitally deficient lateral aspect of the orbits in individu­
als with TCS was confirmed by the greater than normal
values measured for globe protrusion and medial orbital
wall protrusion in conjunction with diminished lateral
orbital wall lengths. These measurements use the lateral
orbital rim as a reference point and confirm the limited
depth of the lateral orbits as a result of hypoplasia of the
lateral orbital rims. The lateral orbital rims are components
of the hypoplastic zygomatic complex. The abnormal shape
of the anterior cranial vault in patients with TCS was docu­
mented as a diminished intercoronal (bitemporal) distance
(width) and decreased cephalic length as compared with
values for normal age-matched controls. In general, the
CT measurements documented in the described study
agree with the clinically observed morphology of TCS. The
measurements carried out in the zygomatic structures con­
firmed the extent of hypoplasia of the zygomas for the group
as a whole and in each individual patient; they also docu­
mented the extent of globe protrusion and decreased upper
face width in patients with TCS. It appears as though the
bones immediately adjacent to the involved zygomatic
complex also experience a degree of hypoplasia or at least
distortion.4,28,39,87,110,113,125,158,159,167,169
Maxillomandibular Region
In 1975, Roberts and colleagues completed a radiographic
cephalometric study of TCS. Serial cephalometric radio­
graphs were available for eight patients who presented with
the full range of features that are characteristic of this syn­
drome.124 The expected facial convexity in patients with
TCS was substantiated by cephalometric measurements.
The extent of convexity was attributed to the severity of
mandibular retrognathia (i.e., a decreased sella–nasion–B-
point angle). Interestingly, the horizontal projection of the
maxilla to the cranial base (i.e., the sella–nasion–A-point
angle) remained within normal limits in the patients that
were measured. Over time and with growth, the facial con­
vexity remained relatively constant, thus confirming that
the facial profile morphology of the infant with TCS was
remarkably similar to that of the adult. Anterior facial
heights were measured as “upper facial height” (i.e., the
nasion to the anterior nasal spine) and “total facial height”
(i.e., the nasion to the menton). The upper facial height was
found to be relatively normal, whereas the total facial height
was often excessive. This is the result of a combination of
anterior open-bite malocclusion, mandibular retrogna­
thism, and chin dysplasia characterized by increased vertical
length and horizontal retrusion. The angle between the
sella–nasion plane and the mandibular plane was obtuse,

1063
CHAPTER 27  Treacher Collins Syndrome: Evaluation and Treatment
the relationship between hearing loss and external auditory
canal and middle-ear abnormalities in patients with TCS.
Data were available from 29 children who had not yet
undergone any ear interventions and who had undergone
audiometric testing and focused standardized petrous tem­
poral bone CT scans. A review of the CT scans allowed for
the evaluation of the external ear canal and the middle-ear
anatomy. The majority of patients (88%) had largely sym­
metric external auditory canal abnormalities that were
either stenotic (31%), atretic (54%), or normal (15%).
Middle-ear cavity ossicular deformities were generally sym­
metric (96%), and cavities were either hypoplastic (85%)
or missing (4%). Cavities that were hypoplastic were also
deformed and assumed a rectangular rather than an oval
shape. Ossicle deformities were generally completely sym­
metric and consisted largely of hypoplastic (46%) or missing
(46%) ossicles. Ossicles (both the malleus and the incus)
that were hypoplastic also tended to be ankylosed (82%) to
either the lateral or medial wall of the tympanic recess. The
structures of the external auditory canal and the middle ear
are generally related. Increasing degrees of external ear canal
malformations (i.e., normal, stenotic, or atretic) are directly
associated with ossicle and cavity malformations. Of the
patients with atretic canals, 67% had missing ossicles, and
33% had small or ankylosed ossicles. No abnormalities were
noted in the inner-ear structures (i.e., cochlea, vestibule,
canals, and internal auditory meatus) in the patients with
TCS who were studied. According to the study by Pron and
colleagues, hearing loss for the patient with TCS ranges
from mild to severe (average, 58 dB of hearing loss).118 The
majority of individuals (96%) have a moderate or greater
degree of hearing loss.
Relationships exist between the external auditory
canal, the middle-ear ossicles, and the degree and configura­
tion of hearing loss.18,55,58,66,118 There is an association
between the degree of external ear canal malformation and
the degree of hearing loss in patients with TCS. In addition,
hypoplastic, ankylosed, and missing ossicles appear to be
associated with increasing levels of hearing loss; on average,
the hearing loss is 52 dB, 56 dB, and 60 dB of hearing loss,
respectively.
Facial Growth Potential with Treacher
Collins Syndrome
The degree of malformation present at the time of birth
in a newborn with TCS is believed to be relatively
stable and non-progressive with age (Figs. 27-3 through
27-6).53,102,109,114,115,124 Roberts and associates reviewed serial
cephalometric radiographs from individuals who were
known to have TCS.124 They documented the stability of
the mandible, which continued to grow but not to catch
up. Through independent research, Garner reported find­
ings of the cephalometric analysis of three patients of
varied ages who were confirmed to have TCS.49 He also
which confirmed the steepness of the clockwise rotation of
the mandibular plane. The angle between the sella–nasion
plane and the palatal plane was also obtuse, thus confirming
the steepness of the clockwise rotation of the maxillary
plane. The posterior facial height was markedly shorter for
patients with TCS, with values in five of the eight patients
found to be a minimum of four standard deviations less
than those of the normal cohort.
The effective horizontal length of the mandible was
markedly reduced, with values in most of the patients falling
below four standard deviations as compared with those in
the normal cohort. The decreased mandible size was evident
in both the ramus height and the body length. The gonial
angle was confirmed to be obtuse, with values of two stan­
dard deviations from the mean as compared with control
values. The extent of antigonial notching was also docu­
mented in patients with TCS and was found to be similar
to that observed among patients with condylar arrest early
during their lives (e.g., as a result of juvenile rheumatoid
arthritis or TMJ trauma at a young age). The steepness of
the clockwise rotation of the maxillary and mandibular
planes combined with the anterior and posterior vertical
height disproportions and severe horizontal deficiency of
the mandible is also indirectly seen in the A-point–to–B-
point discrepancy. All of these morphologic findings explain
the observed facial dysmorphology.4, 39,49,78,79,87
Facial Soft Tissues
Soft-tissue anomalies in individuals with TCS are mani­
fested primarily in four clinical regions: the external ears;
the eyelid–adnexal structures; the preauricular–cheek skin;
and the temporal fossa (e.g., temporalis muscle hypopla­
sia).10,11,22,35,36,64,76,86,132,133,143,148,156 The extent of deficiency
within the soft-tissue envelope is variable and, to large
extent, reflective of the skeletal involvement. Each patient
is unique and must be evaluated individually. The extent of
soft-tissue anomalies continues to represent the most diffi­
cult obstacle to a favorable reconstruction.
External Auditory Canal, Middle and Inner Ear
Structures, and Audiologic Findings
Relatively symmetric (i.e., from side to side) outer and
middle ear malformations are characteristic of TCS. Middle-
ear abnormalities (e.g., hypoplastic or absent cavities and
ossicles) are an almost universal finding.18,55,58,66,118 The
majority of patients have a unilateral or bilateral moderate
or greater conductive hearing loss, with a flat or reverse
sloping configuration on the audiogram. Most of the
hearing loss in these patients is attributable to middle-ear
malformations. In 1993, Pron and colleagues reported the
results of a detailed CT radiologic and audiologic investiga­
tion of a large series of pediatric patients with TCS.118 The
objectives of the study were 1) to determine the degree and
symmetry of the external auditory canal and middle-ear
abnormalities and evaluate hearing loss; and 2) to explore
Text continued on p. 1069

1064 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
Orth
r ognathic Sur
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Orth
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A
B
2 months
2 years
2 months
2 years
• Figure 27-3  A child with a severe form of Treacher Collins syndrome was followed up longitudinally without treatment interven­
tion. No progression of the deformity was seen during clinical or computed tomography scan examination. A, Frontal and B, profile
views at 2 months and 2 years of age.

1065
CHAPTER 27  Treacher Collins Syndrome: Evaluation and Treatment
2 years
2 months
Kaban II B
2 years
2 months
Kaban II B
C
D
C and D, Computed tomography scan views of the craniofacial region at 2 months and 2 years, respectively, demonstrat­
ing the consistent growth of the malformed condyles, the coronoid processes, and the ascending rami of the mandible. From Posnick JC: Treacher
Collins syndrome: perspectives in evaluation and treatment, J Oral Maxillofac Surg 55:1120, 1997.
• Figure 27-3, cont’d

1066 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
• Figure 27-4  A girl who was born
with Treacher Collins syndrome was fol­
lowed up longitudinally at 1 and 5 years
of age without treatment intervention.
There is consistent growth of the cra­
niofacial region without progression of
the deformity. As a result of chronic
nasal obstruction and an open-mouth
posture, excess vertical facial growth
can be seen. A, Frontal views at 1 and
5 years of age. B, Profile views at 1 and
5 years of age. C, Computed tomogra­
phy scan views at 5 years of age. There
is severe hypoplasia of the zygomatic
complex with lateroinferior orbital defi­
ciency. The mandible demonstrates a
Type IIA malformation.
C
5 years of age (Kaban type II A)
A
B
5 years
1 year
5 years
1 year
©Elsevier Inc.
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1067
CHAPTER 27  Treacher Collins Syndrome: Evaluation and Treatment
• Figure 27-5  A child who was born with Treacher Collins syndrome was followed up longitudinally without treatment intervention.
No progression of the facial deformity occurred with growth. A, Frontal views at 10 months and 6 years of age. B, Profile views at 10
months and 6 years of age.
Orth
r ognathic Surg
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Orth
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Orth
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Orth
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6 years
10 months
6 years
10 months
A
B
Continued

1068 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
C
6 years of age (Kaban type II A)
6 years of age (Kaban type II A)
D
C, and D, Computed tomography scans.
• Figure 27-5, cont’d

1069
CHAPTER 27  Treacher Collins Syndrome: Evaluation and Treatment
of reconstruction.69,137 A lack of clinically relevant defini­
tions of the presenting glenoid fossa–condyle–ascending
ramus malformations has resulted in confusion and
miscommunication. Kaban and colleagues revised and clari­
fied the previously described Pruzansky classification system
for the degree of TMJ–mandibular malformation observed
in patients with hemifacial microsomia.69,119 This classifica­
tion is also useful to define the presenting anomalies
and then to direct reconstruction in the patient with TCS
(Fig. 27-7).
A Type I TMJ–mandibular malformation involves
minimal hypoplasia of the glenoid fossa and the condyle–
ascending ramus on each side. All of the skeletal compo­
nents are present (see Fig 27-7, A). Mandibular retrognathia
and a mild anterior open bite are likely to be present, but
TMJ function is essentially normal. The muscles of mastica­
tion are intact, and the condyle and the glenoid fossa are
also fully intact. There is no need or advantage to construct­
ing a neo-condyle or neo-glenoid fossa.
A Type IIA TMJ–mandible malformation involves a
moderate degree of glenoid fossa and condyle–ascending
documented the relative stability of the anomalies without
the progression of deformity at various ages.
To date, no convincing evidence demonstrates a clini­
cally significant worsening of the TCS dysmorphology with
facial growth. Early surgical interventions with mandibular
osteotomies involving the use of either osteodistraction or
standard orthognathic techniques are believed to adversely
affect growth, thereby necessitating revision osteotomies at
maturity. For this reason, waiting until the majority of jaw
growth is complete before reconstructing the maxilloman­
dibular components is recommended, if feasible. In any
case, early mandibular surgery should not be expected to
prevent the need for definitive maxillofacial reconstruction
at maturity.
Classification of Temporomandibular
Joint and Mandibular Malformation
The extent of TMJ–mandibular malformation in patients
with TCS will influence the timing and techniques
• Figure 27-6  A child who was born with Treacher Collins syndrome was followed
up longitudinally without treatment intervention. No progression of the craniofacial
deformity has occurred. A, Frontal views at 6 months and 4 years of age. B, Profile
views at 6 months and 4 years of age.
©Elsevier Inc.
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4 years
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6 months

1070 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
• Figure 27-7  Kaban and colleagues described a classification system to define the
degree of temporomandibular joint–mandibular malformation observed in patients with
hemifacial microsomia. By definition, a Type IIB condylar deficiency will require the
construction of a neo-condyle. The Type III malformation will also require neo-glenoid
fossa construction. The same classification system is used for Treacher Collins syn­
drome. Craniofacial computed tomography (CT) scans demonstrate the classification
system. A, CT scan views of a Type I mandibular malformation. B, C, and D, CT scan
views of a Type IIA mandibular malformation.
Kaban I
Kaban II A
A
B
ramus hypoplasia (see Fig. 27-7, B, C, and D). The ana­
tomic location of each joint is anterior and medial, but TMJ
function remains satisfactory. One or more of the paired
muscles of mastication are likely to be hypoplastic. By defi­
nition, in Type IIA malformations, the condyle and the
glenoid fossa have function that is at a level deemed better
than could reliably be achieved through TMJ replacement.
Even in patients with more severe Type IIA malformations,
when applying superior and posterior pressure to the chin,
the condyles can be seated into a consistent location against
the skull base–glenoid fossa. By completing ramus osteoto­
mies, the proximal segments can be positioned into a stable
location against the skull base, and the distal mandible can
then be reoriented into the preferred location. This will
avoid the need to construct neo-condyles (e.g., costochon­
dral grafts). Coronoidectomies may be required to accom­
modate the short condyles.
The Type IIB TMJ–mandibular malformation involves
severe hypoplasia of the condyles. The mandible is without
a stable centric relation. The glenoid fossa may be
hypoplastic, but they are deemed functional. The hypoplas­
tic condyles do not consistently seat in the glenoid fossa,
and the mandible functions within a limited range of
motion. The extent of mandibular retrognathia and anterior
open bite is marked. With Type IIB TMJ–mandibular mal­
formations, the rudimentary condyles are deemed too far
medially and anteriorly displaced to be useful. The con­
struction of a neo-condyle ascending ramus with the use of
a bone graft is required (see discussion to follow). Coro­
noidectomies and recontouring of the surgically advanced
mandible may be required. Fortunately, this pattern of
malformation occurs in only a small percentage of patients
with TCS.
The Type III glenoid fossa–mandibular malformation
involves deficiency to the extent that no posterior stop
of the lower jaw against the cranial base is possible (see
Fig. 27-7, E). The condyles and the ascending rami are
not present. The disc, the TMJ capsule, and the glenoid
fossa on each side are also not developed. Severe man­
dibular dysmorphology is present, including horizontal

1071
CHAPTER 27  Treacher Collins Syndrome: Evaluation and Treatment
Kaban II A
Kaban II A
Kaban III
Kaban III
C
D
E
F
E and F, CT scan views of a Type
III glenoid fossa–mandibular malformation.
• Figure 27-7, cont’d

1072 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
*References 1-3, 5, 16, 21, 25, 81, 97-100, 105-107, 109, 110, 112, 114,
115, 121, 122, 127, 153, 151
retrognathia and decreased posterior ramus height. A tra­
cheostomy is generally required shortly after birth to manage
the airway. Eventual construction of both a neo-glenoid
fossa and a neo-condyle ascending ramus will be required
on each side. Reconstruction with bone grafts (e.g., cranial
grafts for the zygomatic complex and either costochondral
or a vascularized fibula flap for the mandible) will be
required (see discussion to follow).
Staging of Skeletal Reconstruction:
Timing and Techniques
The reconstruction and rehabilitation of the Treacher
Collins malformation must address unique and specific
components of the anomalies, including the following: 1)
the zygomatic and orbital region; 2) the maxillomandibular
region; 3) the nasal region; 4) the soft-tissue envelope; 5)
the external ears; 6) the external auditory canals; and 7) the
middle-ear structures (Figs. 27-8 through 27-10).*
Zygomatic and Orbital Reconstruction
In previously published studies, we have documented the
efficacy of reconstructing the malar and orbital deficiencies
for moderate to severe forms of TCS with the use of full-
thickness calvarial bone grafts that have been contoured
three-dimensionally to form a new zygomatic complex (see
Figs. 27-8 and 27-9 through 27-13).113 The neo-zygoma is
then inset and stabilized with microplate and screw fixation.
Exposure for the reconstruction is provided by a coronal
scalp incision without the need for additional periorbital
incisions. Orbital floor defects are reconstructed with fixed
split-thickness autogenous cranial bone. Cranial vault donor
sites are repaired either with autogenous split cranial grafts
or artificial material. For non-autogenous reconstruction of
the small skull donor sites, we prefer the use of a titanium
mesh base fixed to the adjacent skull. The mesh is then filled
in with a bone substitute. Lateral canthopexies are com­
pleted through the coronal scalp incision and secured to
each new lateral orbital rim. In our study, computed tomog­
raphy scanning that was performed before surgery and
immediately afterward demonstrated significant increases in
lateral orbital wall length (depth), lateral orbital (rim)
width, interzygomatic arch width, and zygomatic arch
length for patients with TCS. The late (i.e., ≥1 year) post­
operative scans document that these changes were main­
tained. No complications occurred during surgery, and
repaired skull donor sites healed without clinical defect.
Zygomatic and orbital morphologic improvement was
achieved in all patients, with follow-up intervals ranging
from 24 to 50 months (mean, 35 months) at the close of
the study. Unfortunately, over time, I have observed that
partial resorption of the zygomatic complex graft occurs in
some patients.
We believe that reconstructing the malar and orbital
deficiencies before the patient is 7 years old is not advisable
unless severe corneal exposure problems occur and skeletal
deficiency is believed to be the cause. By this age, the
cranio–orbito–zygomatic bony maturation is nearly com­
plete. Therefore, adult-sized cheekbones may be constructed
and placed with limited concern about how further growth
will effect the initial result. In addition, skull donor-site
reconstruction is simpler than it is at a younger age, because
the presence of bicortical cranial bone in those who are more
than 7 years old allows for the splitting of adjacent bone to
assist with reconstruction (see Figs. 27-11 and 27-12).
Other surgeons have recommended various methods and
time frames for the zygomatic and orbital deformities asso­
ciated with TCS.20,45,60,113,125,149,150,152,167,169 We believe that
the construction of the complete zygomatic complex from
full-thickness autogenous cranial bone maintains volume
and shape better than onlay grafts, which have been univer­
sally disappointing. Over time, onlay autogenesis bone
grafts that have been placed in the craniofacial region (e.g.,
supraorbital ridge, zygoma, anterior maxilla, angle of man­
dible, chin) from all tried donor sites (e.g., skull, hip, rib)
have demonstrated significant and unpredictable resorp­
tion. Furthermore, no commensurate growth (i.e., volume
expansion) of the graft with the underlying bone (e.g.,
zygoma) should be expected. The belief that “even if the
graft partially resorbs, at least something has been gained”
should be abandoned; surface irregularities routinely result,
which further detract from the baseline malformation.
Maxillomandibular Reconstruction
A primary consideration for the timing and technique of
jaw reconstruction is to clarify any special airway needs.
This will influence whether or not first-stage early mandibu­
lar reconstruction is necessary prior to growth maturity.
The second consideration is to define the extent of TMJ–
mandibular malformation. With Type I and IIA malforma­
tions, there is no need for glenoid fossa or condyle
construction. In patients with these conditions, adequate
TMJ anatomy is present so that mandibular reconstruction
can be achieved through ramus osteotomies (e.g., sagittal
split, inverted L, distraction [DO]) with the preservation of
the working TMJ.
The basic dysmorphologies of the maxillomandibular
complex that require reconstruction in patients with TCS
are as follows: 1) altered facial heights (increased anterior
lower facial height and decreased posterior facial height);
2) horizontal jaw deficiency (primarily in the mandible but
also in the maxilla); and 3) chin dysplasia (increased vertical
length and horizontal retrusion).29,43,44,54,61,70,150,152,168 These
malformations result in an excessive clockwise rotation
of the maxillomandibular complex and an unfavorable
A-point–to–B-point relationship when viewed in profile. In
general, there is an Angle class II anterior open-bite maloc­
clusion. Interestingly, some individuals will present with
Text continued on p. 1081

1073
CHAPTER 27  Treacher Collins Syndrome: Evaluation and Treatment
• Figure 27-8  A, A child who was born with Treacher Collins syndrome is shown during the mixed dentition. She has severe zygomatic complex
and orbital deficiency as well as a Type IIA condylar malformation. B, Illustration of the location of the full-thickness cranial bone graft donor site
for zygomatic complex reconstruction. The zygomatic complex graft is also shown inset at the recipient site. C, Illustrations of a maxillofacial
complex seen in a teenager with Treacher Collins syndrome (Type IIA mandibular malformation). The cheekbone orbital reconstruction has previ­
ously been completed. The proposed maxillary, mandibular, and chin osteotomies are marked out and then completed. Counterclockwise rotation
of the maxillomandibular complex is demonstrated as part of the reconstruction.
©Elsevier Inc.
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• Figure 27-9  Additional images of the patient from Fig. 27-8 showing the stigmata of Treacher Collins syndrome. At the age of 17 years, the
patient was referred to this surgeon and agreed to a staged reconstruction that included three operations. The initial preoperative orthodontic
treatment included the extraction of mandibular first premolars with the retraction of the anterior dentition to remove compensations. Orthognathic
surgery included a Le Fort I osteotomy (counterclockwise rotation and anterior maxillary intrusion); bilateral sagittal split ramus osteotomies (advance­
ment and counterclockwise rotation); and an osseous genioplasty (vertical reduction and advancement). During a second operation, the patient
underwent zygomatic complex reconstruction with fixed full-thickness autogenous cranial bone grafts as described in this chapter and as illustrated
in Fig. 27-8. This was followed a third operation: septorhinoplasty (open approach) to in-fracture the nasal bones, reduce the dorsal hump (bone
and cartilage), and reshape the tip, including septal (caudal strut) grafting (see Chapter 38). A, Right profile views before and after reconstruction.
B, Left profile views before and after reconstruction.

1075
CHAPTER 27  Treacher Collins Syndrome: Evaluation and Treatment
E
C
D
Maxillary counter-
clockwise rotation
and anterior intrusion
Mandibular counter-
clockwise rotation
C, Lateral cephalometric radiographs before and after reconstruction. D, Articulated dental casts that indicate
analytic model planning. E, Occlusal views before treatment, early after reconstruction, and 3 years after reconstruction. A degree of
maxillary relapse (skeletal versus dental) has occurred but with a retained functional occlusion and favorable facial aesthetics.
• Figure 27-9, cont’d 
Continued

1076 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
a
a
b
b
G
F
Hypoplastic
temporalis
muscle
F, Crafted autogenous cranial grafts shown before and then after inset into the zygomatic defects. The advancement of
the hypoplastic temporalis muscles is also demonstrated. The soft-tissue hypoplasia involves multiple layers (i.e., skin, subcutaneous tissue, fascia,
and fat tissue) and therefore can not be fully corrected simply by advancing the hypoplastic temporalis muscle. G, Axial computed tomography
scan views shown through the zygomas before and after malar reconstruction indicating the improved interzygomatic buttress width, interzygomatic
arch width, and zygomatic arch length. A, From Posnick JC, Treacher Collins syndrome: Perspectives in evaluation and treatment, J Oral Maxillofac
Surg 55:1120, 1997. F (bottom left, bottom right), G, From Posnick JC, Goldstein JA, Waitzman A: Surgical correction of Treacher Collins malar
deficiency: quantitative CT scan analysis of long-term results, Plast Reconstr Surg 92:12, 1993.
• Figure 27-9, cont’d

1077
CHAPTER 27  Treacher Collins Syndrome: Evaluation and Treatment
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• Figure 27-10  A 16-year-old boy
born with Treacher Collins syndrome
with a Type I mandibular malformation
was followed up longitudinally to
confirm no progression of the defor­
mity. He then underwent two opera­
tions, including orbitozygomatic and
orthognathic
reconstruction,
as
described previously. In preparation
for orthognathic surgery, orthodontic
treatment
included
maxillary
first
bicuspid extractions with the retrac­
tion of the anterior dentition to correct
the arch form. The mandibular second
molars are congenitally absent. The
patient’s orthognathic surgery included
Le Fort I osteotomy (vertical intrusion
and horizontal advancement); bilateral
sagittal split ramus osteotomies (hori­
zontal advancement); and an osseous
genioplasty (horizontal advancement).
He is shown before and after orbitozy­
gomatic and orthognathic surgery.
A, Frontal views before and after
orthognathic surgery. B, Left profile
views before and after orthognathic
surgery. C, Right profile views before
and after reconstruction.
Continued

1078 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
Prior to treatment
After treatment with maxillary bicuspid extractions
D
E
D, Occlusal views before and after orthognathic surgery. Note that, with the upper bicuspid extractions and the
absent mandibular second molars, the maxillary second molars are no longer in occlusion. E, Palatal views before and after orthognathic
surgery.
• Figure 27-10, cont’d

1079
CHAPTER 27  Treacher Collins Syndrome: Evaluation and Treatment
F
G
Mandibular counter-
clockwise rotation
H
F, Articulated dental casts that indicate analytic model planning. G, Axial computed
tomography slices before and after malar reconstruction. H, Three-dimensional computed tomography scans
before and after malar reconstruction (i.e., before orthognathic surgery).
• Figure 27-10, cont’d

1080 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
• Figure 27-11  A 6-year-old boy who was
born with Treacher Collins syndrome and a
Type IIA mandibular malformation is shown
before and after zygomatico–orbital reconstruc­
tion carried out by the technique described.
He also underwent bilateral otoplasty to set the
ears back (see Chapter 39). A, Frontal views
with smile before and after reconstruction.
B, Oblique views before and after reconstruc­
tion. C, Worm’s-eye views before and after
reconstruction.
©Elsevier Inc.
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©Elsevier Inc.
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©Elsevier Inc.
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©Elsevier Inc.
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©Elsevier Inc.
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©Elsevier Inc.
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osnicicicicicicicicicicicicicicicick

1081
CHAPTER 27  Treacher Collins Syndrome: Evaluation and Treatment
D
E
Donor site
Donor site
D and E, Computed tomography scan views before and after reconstruction.
• Figure 27-11, cont’d 
either a Class I or Class III relationship. These aspects must
be addressed with the incorporation of counterclockwise
rotation of the maxillomandibular complex to increase the
posterior airway space, to correct the malocclusion, and to
restore facial balance.
The most favorable aesthetic results are generally achieved
in patients who undergo definitive reconstructive jaw
surgery only after early maxillofacial skeletal maturity (i.e.,
after the age of 13 to 15 years) and when these procedures
are carried out in combination with effective definitive
ortho­dontic treatment during the permanent dentition (see
Figs. 27-8 through 27-10). Mandibular and possibly maxil­
lary premolar extractions are often required to orthodonti­
cally unravel dental root crowding, to normalize the

1082 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
• Figure 27-12  Intraoperative views demonstrate the technique for zygomatico–orbital reconstruction in a 5-year-old child as it would be carried
out for a patient with Treacher Collins syndrome. Working through a coronal (scalp) incision, the rudimentary zygomatic and orbital structures are
exposed. Full-thickness cranial bone grafts are harvested, and each zygoma is crafted from such a graft. Each zygoma graft is inset and stabilized
with microplates and screws. The orbital defects are reconstructed with cranial bone graft, and the orbital rims are reshaped with a rotary drill.
Lateral canthopexies are completed through the coronal scalp incision and fixed to the new frontozygomatic suture regions. A, A view of the dis­
sected rudimentary zygomatic remnant; the periosteal elevation is deep to the remnant. A template of the proposed zygomatic complex has been
made. B, The template is taken to the mid-skull region, and its outline is marked out for craniotomy. The location for graft harvesting is posterior
to the coronal suture, lateral to the sagittal suture, and anterior to the lambdoid suture. Through a craniotomy, the full-thickness cranial bone graft
is harvested for zygomatic complex reconstruction. The exact same procedure is completed on the contralateral side. C, The two full-thickness
cranial bone grafts are then crafted. The two templates and the two full-thickness crafted cranial bone graft–zygomatic complexes are shown.
C
A
B

1083
CHAPTER 27  Treacher Collins Syndrome: Evaluation and Treatment
D
F
G
Fully formed
temporalis
muscle
E
D, The full-thickness cranial bone graft is fixed in place with microscrews. E, The lateral canthus is identified through the
coronal incision and a 28-gauge stainless steel wire is passed through. In the patient shown here, the temporalis muscle has minimal hypoplasia.
Thus, minimal temporal hallowing is expected after zygomatic reconstruction. The lateral canthus is pexed to the new frontozygomatic region.
F, The locations for graft harvesting are outlined. G, The right side cranial graft is shown in place. A,B, From Posnick JC, Goldstein JA, Waitzman
A: Surgical correction of Treacher Collins malar deficiency: Quantitative CT scan analysis of long–term results. Plast Reconstr Surg 92:12, 1993.
• Figure 27-12, cont’d

1084 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
C
©Elsevier Inc.
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©Elsevier Inc.
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©Elsevier Inc.
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• Figure 27-13  A 7-year-old girl who was born
with Treacher Collins syndrome is shown before and
after zygomatico–orbital reconstruction that was
carried out via the technique described in this
chapter. A, Frontal views before and after recon­
struction. B, Oblique views before and after recon­
struction. C, Worm’s-eye views before and after
reconstruction.

1085
CHAPTER 27  Treacher Collins Syndrome: Evaluation and Treatment
D
E
Donor site
D, Computed tomography scan views before and after zygomatico–
orbital reconstruction. E, Axial computed tomography scan views through the mid orbits before
and after cranial graft reconstruction.
• Figure 27-13, cont’d 
Continued

1086 SECTION 4  Frequently Seen Malformations with Dentofacial Deformity
G
Hypoplastic
temporalis
muscle
F
F, Intraoperative views of full-thickness crafted zygomatic complex
before inset. G, Left and right intraoperative views of zygomatic complex reconstruction fixed with
microplates and screws. The hypoplastic temporalis muscles will be rotated anteriorly as part of
the reconstruction. A degree of temporal hallowing is to be expected as a result of the congenital
soft-tissue hypoplasia. It is important to not over correct the zygomatic–orbital reconstruction,
because this would accentuate the soft-tissue deficiency. A (left), From Posnick JC, Treacher
Collins syndrome: Perspectives in evaluation and treatment, J Oral Maxillofac Surg 55:1120, 1997.
A (right), From Posnick JC, Goldstein JA, Waitzman A: Surgical correction of Treacher Collins
malar deficiency: quantitative CT scan analysis of long-term results, Plast Reconstr Surg 92:12,
1993.
• Figure 27-13, cont’d 
inclination of the anterior teeth, and to fully decompensate
the occlusion in preparation for the effective aesthetic and
airway repositioning of the jaws (see Fig. 27-7, A, B, C, and
D). The surgical technique involves sagittal ramus osteoto­
mies of the mandible in combination with a Le Fort I
(maxillary) osteotomy and an oblique osteotomy of the
chin. The incorporation of counterclockwise rotation of
the maxil­lomandibular complex is generally required to
success­fully accomplish certain objectives. Any intranasal
airway obstructions are simultaneously managed (e.g.,
septoplasty, inferior turbinate reduction, recontouring of
the nasal floor, widening of the aperture).
Type IIB mandibular malformations will require
surgical construction of the congenitally missing condyle.
Osteotomies alone—with the immediate repositioning
or gradual DO of skeletal segments—will not be adequate.
For the Type IIB malformation, despite inherent limita­
tions, mandibular reconstruction with a costochondral
graft remains the preferred alternative when feasible (i.e.
this will avoid the need to harvest fibula composite flaps).

1087
CHAPTER 27  Treacher Collins Syndrome: Evaluation and Treatment
variation. Hypoplasia of the mandible is one of the constant
but variable components of the syndrome.* Individuals
with TCS are known to be at risk for sleep apnea, which
has been reported to occur in more than 25% of affected
individuals. For those with OSA who are tracheostomy
dependent, an alternative method of treatment may include
the sagittal advancement of the mandible to bring the
tongue forward, to create space in the oral cavity, and to
open up the retromandibular airway. DO techniques to
gradually advance and then hold the mandibular segments
until consolidation occurs have been used to improve the
airway for almost two decades.* The use of this technique
has been reported by several authors as an effective method
of decannulating otherwise tracheostomy-dependent indi­
viduals with TCS. The implications of this early mandibular
advancement approach for long-term airway success and as
a definitive jaw reconstruction option for patients with TCS
have undergone little critical analysis.37
Anderson and colleagues reported the long-term results
of mandibular lengthening with a DO approach that was
carried out during the patient’s childhood for the manage­
ment of airway obstruction in an individual with TCS.2
They documented that the airway improved in a 6-year-old
patient with TCS after DO of the mandible to the extent
that decannulation and the early resolution of airway
obstruction were achieved. They showed that the minimum
cross-sectional airway in this patient increased during the
period of distraction but did not reach age-adjusted normal
values. Subsequent serial scans over 10 progressive years of
growth demonstrated that the minimal cross-sectional
airway did not increase further. Specifically, measurements
of the cross-sectional area that were taken at a fixed point
of the upper airway (i.e., the base of the C2 vertebral body)
demonstrated no increase in the cross-sectional area during
growth. The published longitudinal case study from these
authors demonstrates a failure of a sustained satisfactory
cross-sectional area of the upper airway with chronologic
age. They also used three-dimensional CT scans to docu­
ment that mandibular growth continued in the same dys­
morphic TCS pattern as it had before the distraction
intervention. This resulted in an abnormally steep (clock­
wise rotated) mandibular plane angle. The combination of
an increasingly steep mandibular plane angle and the failure
of the distraction procedure to produce long-term positive
horizontal projection was believed to have created the skel­
etal basis for ongoing upper airway obstruction. The authors
conclude that a mandibular DO procedure carried out in a
child with TCS who is experiencing OSA maybe useful for
opening the retromandibular airway. However, the initial
improvement in the upper airway did not continue during
chronologic growth. The clinical consequences were the
reemergence of the symptoms of OSA that required further
treatment (i.e., continuous positive pressure airway mask at
night or tracheostomy). It is also known that a mandibular
The incorporation of the counterclockwise rotation of the
entire maxillomandibular complex will also be required to
achieve facial balance and an adequate airway. Effective
reconstruction can only be predictably carried out with
neo-condylar construction followed by maxillary and man­
dibular osteotomies at or near skeletal maturity. Intranasal
procedures to open the airway (i.e., septoplasty, inferior
turbinate reduction, recontouring of the nasal floor and
walls) are also carried out at the time of definitive jaw
reconstruction.
The Type III TMJ–mandibular malformation will require
surgical construction of the congenitally missing glenoid
fossa and condyle on each side (see Fig. 27-7, E). Construc­
tion of the neo-glenoid fossa is required and best carried
out as part of the zygomatic and orbital reconstruction (see
the discussion of zygomatic–orbital reconstruction earlier in
this chapter). For the Type III condyle-ascending ramus
malformation, construction of a neo-condyle on each side
is also required. Mandibular osteotomies alone, with the
immediate repositioning or gradual distraction of skeletal
segments, will not be adequate. Despite limitations, neo-
condylar construction with a costochondral graft remains
the preferred alternative when feasible. Occasionally the
combined extent of the deficiency of the skeleton and the
soft tissues will require the microvascular transfer of a
crafted fibula composite flap for each side (i.e., bone and
soft tissue). The advantages of a vascularized fibular com­
posite flap are obvious but the donor site morbidity (i.e.,
need for bilateral lower extremity harvesting) and recipient
site requirements (e.g., need for bilateral neck microvascular
anastomosis) are significant. In either case, at operation, the
distal mandible is repositioned anteriorly to the preferred
position of the maxilla. This is assisted by a prefabricated
interocclusal acrylic splint, with the distal mandible secured
by intermaxillary fixation. The proximal mandible on each
side is then constructed with an autogenous costochondral
graft or a fibula composite microvascular flap. Contouring
of the native mandible with a rotary drill before placing the
rib or fibula graft on the lateral side of or adjacent to the
edge of the distal mandible is generally required to avoid
lateral flaring. Fixation of the graft to the native distal man­
dible is done with an extended titanium plate from the graft
forward along the inferior border of the body of the distal
mandible on each side. Graft placement and fixation are
generally carried out through an extraoral neck incision.
The limited use of intraoral incisions in the ramus regions
during this procedure is preferred to minimize the incidence
of infection and wound breakdown with subsequent graft
loss or TMJ ankylosis.
Indications for First-Stage Mandibular
Reconstruction in the Newborn
TCS is a clefting syndrome that involves both sides of the
face (i.e., the first and second branchial arches) in which
upper airway anomalies occur with both regularity and
*References 17, 21, 47, 48, 53, 59, 61, 67, 70, 71, 90-93, 131, 134, 136,
139, 141, 142, 160, 166