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Journal of Plastic, Reconstructive & Aesthetic Surgery (2015) xx, 1e7

Long-term orthognathic surgical outcomes in

Treacher Collins patients
P.D. Nguyen a, M.C. Caro b, D.M. Smith b, B. Tompson b,
C.R. Forrest b, J.H. Phillips b,*

a
Division of Plastic and Reconstructive Surgery, Children’s Hospital of Philadelphia, PA, USA
b
Division of Plastic and Reconstructive Surgery, The Hospital for Sick Children, Toronto, ON, Canada

Received 22 June 2015; accepted 21 October 2015

KEYWORDS Summary Introduction: Treacher Collins syndrome is a rare disorder characterized by several
Treacher Collins; orofacial findings including malar deficiency and hypoplastic mandibles. These patients often
Orthognathic; require a combined orthodonticeorthognathic approach to correct their malocclusion. This is
Stability; most often characterized by a short posterior vertical height and an anterior open bite. Orthog-
Craniofacial; nathic correction often requires Le Fort I and bilateral sagittal split osteotomies. No long-term
Cephalometric stability results have been reported after bimaxillary surgery in Treacher Collins patients.
Methods: A retrospective review of all Treacher Collins patients evaluated for orthognathic surgery
by a single surgeon from 1993 to 2007 was performed. Patients were divided into groups who required
surgery and those who did not. Part I analyzed the cephalometric differences between the surgical
(S) and nonsurgical (NS) groups. Part II of the study assessed the preorthodontic treatment (T1), pre-
operative (T2), immediate postoperative (T3), and 1-year postoperative (T4) cephalometric mea-
surement variables to determine the net surgical movement (T3 T2) and relapse (T4 T3).
Results: Twenty-two patients met the inclusion criteria, of which 11 had occlusal relationships
requiring orthognathic surgery. Nine out of 11 chose to have surgery.
At baseline, surgical patients exhibited a statistically significant retruded maxilla as measured by
SNA and midface length compared to the NS group. In addition, the S group also had an increased
gonial angle. There were significant movements in all maxillary and mandibular measurements.
There was a significant relapse in the palatal plane angle when the maxilla was anteriorly impacted,
with a 2.8-mm average relapse of the advancement. Relapse of the counterrotation movement of
the mandible was identified, but this was not significant. Relapse did not affect the final occlusal
result, which may have been compensated with postsurgical orthodontic treatment.
Conclusion: Bimaxillary orthognathic surgery in the Treacher Collins patients may be performed
safely with long-term dental and skeletal stability.
ª 2015 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by
Elsevier Ltd. All rights reserved.

* Corresponding author. 555 University Avenue, Toronto, ON M5G 1X8, Canada.

E-mail addresses: pdnguyendoc@gmail.com (P.D. Nguyen), jphillips0002@gmail.com (J.H. Phillips).

http://dx.doi.org/10.1016/j.bjps.2015.10.036
1748-6815/ª 2015 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

Please cite this article in press as: Nguyen PD, et al., Long-term orthognathic surgical outcomes in Treacher Collins patients, Journal of
Plastic, Reconstructive & Aesthetic Surgery (2015), http://dx.doi.org/10.1016/j.bjps.2015.10.036
 + MODEL
2 P.D. Nguyen et al.
Introduction
Treacher Collins syndrome is a rare autosomal dominant
syndrome affecting the first and second branchial arches,
first described by Edward Treacher Collins in 1900.1,2 The
reported incidence is one in 25,000e50,000 live births.3 The
clinical features of Treacher Collins syndrome consist of a
characteristic appearance including mandibular micro-
gnathia, malar deficiency, down-slanting eyes, and eury-
blepharon with or without coloboma.4 At the severe end of
presentation, there is a complex orbitomalarezygomatic
cleft and class II malocclusion typified by an anterior open
bite. A prominent nasal dorsum with a clockwise-rotated
mandible (as viewed on a standard cephalogram from the
right side) gives a convex profile to the face.2,5,6 In 28% of
patients, maxillary hypoplasia may be accompanied by a cleft
palate.7 This is thought to be secondary to a restricted tongue
position within a diminutive oropharynx, causing glossoptosis
over a retrognathic mandible. Nasopharyngeal volume is also
reduced and may be accompanied by choanal atresia, with
resultant airway issues that present early in the newborn.
Patients presenting with Treacher Collins syndrome at the
Hospital for Sick Children Centre for Craniofacial Care and
Research are evaluated by a multidisciplinary team assess-
ment. These include dental, speech, orthodontic, and plastic
surgical consultations. Procedures such as bimaxillary
advancement, rhinoplasty, genioplasty, and soft tissue
augmentation can deliver a significantly improved facial
aesthetics and quality of life when delivered with a multi-
disciplinary approach to care.8e11 Bimaxillary surgery can
restore facial balance and level the occlusal plane. These
surgical movements can be technically challenging to achieve
in patients with Treacher Collins syndrome due to poor bone
stock and soft tissue deficiency. Previously, we reported that
the mandible and midface in Treacher Collins patients are
expectedly short in the anteroposterior plane compared to
controls.11 The mandibular plane angle is obtuse, affecting
female patients in particular, in whom there is also a poste-
riorly placed chin point. The affected individuals have a high
antegonial notch, which increases the complexity of fixation.
Although anterior lower facial height proportion in the con-
trol and syndromic patients are similar, the posterior facial
height in Treacher Collins syndrome patients is reduced.11
Due to the shortened posterior facial height in Treacher
Collins patients, the orthognathic movements routinely
include an anterior maxillary impaction with posterior
maxillary extrusion. These movements result in correction of
the palatal plane angle and opening of the posterior naso-
pharyngeal airway. Leveling of the maxilla results in an even
greater rotation of the already obtuse mandibular plane
during the sagittal split. Even with these complexities,
bimaxillary orthognathic surgery in Treacher Collins patients
improves facial balance and projection, lessening the stig-
mata of the disease.
To date, there have been no long-term reports of
bimaxillary orthognathic surgery in Treacher Collins pa-
tients. There have only been case reports that suggest
mandibular relapse after 1e2 years following mandibular
surgery in patients with Treacher Collins Syndrome.12,13
The purpose of this study is to examine the long-term
stability of bimaxillary orthognathic surgery in a Treacher
Please cite this article in press as: Nguyen PD, et al., Long-term orthognathic surgical outcomes in Treacher Collins patients, Journal of
Plastic, Reconstructive & Aesthetic Surgery (2015), http://dx.doi.org/10.1016/j.bjps.2015.10.036
Collins population. It is important to counsel patients and
their families effectively on the expected outcomes.
Methods
A retrospective chart review was performed on patients
diagnosed with Treacher Collins syndrome at the Hospital
for Sick Children from 1993 to 2007. Patients were included
only if they had Treacher Collins syndrome confirmed as a
diagnosis by a clinical geneticist, a combined ortho-
donticeorthognathic treatment, pretreatment with lateral
cephalometric radiographs, pre-surgery, immediately
postop, and at least 1 year post-op. Orthognathic surgery
was performed by the senior author (JHP). Patients were
excluded from the study if they had any other genetic
diagnosis in addition to Treacher Collins syndrome, a history
of distraction osteogenesis, or were undergoing active or-
thodontic treatment.
The study was divided into two parts. Part I of the study
analyzed cephalometric differences between the surgical
(S) and nonsurgical (NS) Treacher Collins groups. Jaw posi-
tion, midface and mandibular length, facial plane angles,
facial height ratios, and antegonial notch height were
recorded (Figure 1). Data were obtained from lateral
cephalograms and analyzed using the registered software
Dentofacial Planner 7.2 (Dentofacial Software Inc., Tor-
onto, Ontario, Canada). All cephalometric data were
collected and analyzed by a single trained user (MCC).
Part II of the study analyzed the surgical group using the
same cephalometric parameters. For each parameter,
there was a pretreatment (T1), presurgical (T2), immediate
postoperative (T3), and at least 1-year-postoperative (T4)
measurement (Figure 2). The surgical movement was
calculated as T3 T2. The relapse was calculated as the
change from T3 to T4 (T3 T4), and the total gain was
calculated as the surgical movement minus relapse
(T4 T2). Student’s t-test for paired parametric data was
applied to obtain values for statistical differences across
time for the datasets. Single measurements were recorded
for each patient, and the standard deviation represents the
variation within the patient population.
Results
Sixty-seven patients were identified over the study period
with a diagnosis of Treacher Collins syndrome. Of these, a
total of 22 patients met the inclusion criteria with an
appropriate follow-up. There were 13 male and nine female
patients. Of the 22 patients, 11 were deemed to have
occlusal relationships that required orthognathic surgery
for correction. All patients had a class II malocclusion
relationship. Eleven patients had functional occlusion or
occlusions that could be treated with orthodontics alone.
Of the 11 cases warranting surgery, nine patients under-
went bimaxillary surgery, while two did not wish to pursue
surgical treatment. Of the 11 patients who did not undergo
orthognathic surgery, three patients had some other form
of surgical intervention such as malar augmentation, fat
injections, bilateral canthopexies, or genioplasty. All
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Long-term Treacher Collins orthognathic outcomes 3

Figure 1 Cephalometric indices. SNA, SNB, and ANB (Red), Wits appraisal (Blue), Midface and mandibular length (Yellow), and
Mandibular plane and Frankfort horizontal plane angle (Black).

patients had a follow-up of more than 1 year, with the
range between 1 and 3 years.
Part I: Evaluation of the cephalometric differences be-
tween the operated and nonoperated Treacher Collins pa-
tients. The mean age of the NS group was 15.5 years with
nine males and two females. In the S group, the mean age
was 15.2 years, with four males and seven females. Ceph-
alometric measurements were performed for NS and sur-
gical S Treacher Collins patients at the preorthodontic
timepoint (T1). SNA angle (82.4  3.5 vs. 75.8  5.4 ,
p < 0.005), midface length (83.6  4.0 mm vs.
77.5  5.5 mm, p < 0.01), and gonial angle (130.7  6.3 vs.
139.1  11.0 , p < 0.01) proved to be statistically signifi-
cantly different between the NS and S groups, respectively.
Meanwhile, mandibular length (99.8  9.6 mm vs.
94.6  12.9 mm, p Z 0.30), palatal plane angle
( 11.3  9.6 vs. 21.1  9.7 , p Z 0.45), and overjet
(1.1  1.8 mm vs. 2.5  7.5 mm, p Z 0.99) were not
statistically significant, though overbite ( 2.8  2.6 mm vs.
10.8  7.2 mm, p Z 0.06) approached significance. Re-
sults of cephalometric parameters in NS versus S Treacher
Collins patients are summarized in Table 1. Cumulatively,
NS patients demonstrated a more anteriorly projected
maxilla and less obtuse mandibular angle compared to the S

Figure 2 Representative cephalometric landmarks at presurgical (T2), immediate postsurgical (T3), and 1-year follow-up (T4)
timepoints.

Please cite this article in press as: Nguyen PD, et al., Long-term orthognathic surgical outcomes in Treacher Collins patients, Journal of
Plastic, Reconstructive & Aesthetic Surgery (2015), http://dx.doi.org/10.1016/j.bjps.2015.10.036
 + MODEL
4 P.D. Nguyen et al.

Table 1 Mean values before orthodontic treatment (T1) Table 2 Mean values at pre-surgery (T2), post surgery
for nonsurgical (NS) and surgical (S) Treacher Collins (T3), and over 1 year post surgery (T4).
patients. Variable T2 T3 T4
Variable Nonsurgical Surgical p-value SNA 75  5.2
83  3.7
81  3.9
SNA 82.4  3.5 75.77  5.4 0.0028* Palatal plane 13  5.7 18  6.2 12  8.7
Mandibular 99.8  9.6 94.6  12.9 0.3025 Gonial angle 150  12.3 140  11.7 145  13.5
length (mm) Midface 77  10.0 86  9.6 83  10.6
Midface 83.6  4.0 77.5  5.5 0.0076* length (mm)
length (mm) Mandibular 96  11.8 105  5.6 104.6  6.4
Palatal 11.3  9.6 21.1  9.7 0.4453 length (mm)
plane angle
Overjet (mm) 1.1  1.8 2.5  7.5 0.9873
Overbite (mm) 2.8  2.6 10.8  7.2 0.0594 The relapse in the counterrotation of the mandibular plane
Gonial angle 130.7  6.3 139.1  11.0 0.0069* angle was, however, not significant. Lateral cephalometric
*Represents statistically significant p-value. mandibular measurements preoperatively (T2), post-
operatively (T3), and at least 1 year postoperatively (T4)
are shown in Figure 4. Pre- and immediate postoperative
images of a representative female Treacher Collins who
group. These patients also had a normal occlusal relation- underwent bimaxillary orthognathic surgery are shown in
ship without an anterior open bite. Figure 5.
Part II: Skeletal movements and surgical relapse after
orthognathic surgery of Treacher Collins patients (n Z 9).
When comparing the difference between patients’ cepha- Discussion
lometric measurements post- and pre-orthognathic surgery
(T3 T2), SNA increased by 7.6 (83  3.7 vs. 75  5.2 , Although Treacher Collins syndrome is not a progressive
p < 0.001), the palatal plane angle increased by 4.4 entity, definitive bimaxillary surgery should be performed
( 18  6.2 vs. 13  5.7 , p < 0.05), gonial angle as late as possible toward skeletal maturity as growth may
decreased by 10.2 (140  11.7 vs. 150  12.3 , p < 0.005), be unpredictable. It has been observed that mandibular
midface length increased by 8.5 mm (86  9.6 mm vs. growth in these patients remains stunted, with persistent
77  10.0 mm, p < 0.0001), and mandibular length micrognathia compared to other craniofacial syndromic
increased by 9.2 mm (105  5.6 mm vs. 96  11.8 mm, patients.14 In particular, the deformity in the Treacher
p < 0.005). In addition, Wits appraisal advanced by 6.6 mm Collins patients is a persistently deficient ramus and rela-
(p < 0.005), antegonial angle decreased by 3.9 , SNB tively normal mandibular body as compared to a deficient
increased by 2.6 (p < 0.01), and ANB increased by 5.0 body and relatively normal ramus observed more commonly
(p < 0.001). in the Pierre Robin sequence patients.15 A clockwise rota-
When comparing cephalometrics at 1 year after surgical tion of the mandibular body and an obtuse relation be-
movement with immediate postoperative results (T4 T3), tween the ramus and the body are documented.16 The
significant relapse was identified in SNA with a mean change mandibular retrognathism may clinically appear to be even
of 1.9 (81  3.9 vs. 83  3.7 , p < 0.005), palatal plane more pronounced than what cephalograms demonstrate as
angle relapsed by 6 ( 12  8.7 vs. 18  6.2 , p < 0.001), there is a moderate anterior maxillary prognathism in
and midface length decreased by 2.8 mm (83  10.6 mm vs. Treacher Collins patients.14 The goal of bimaxillary surgery
86  9.6 mm, p < 0.001). Figure 2 demonstrates repre-
sentative cephalometric landmarks at T2, T3, and T4.
This amounted to a 25% relapse in SNA, 100% in palatal
Table 3 Mean change of cephalometric measurements for
plane angle, and 33% in midface length, when compared to
surgical movement (T3 T2) and skeletal relapse (T4 T3).
their preoperative measurements. Wits appraisal also
relapsed by 3.5 mm (p < 0.05). Changes that did not prove Variable Surgical Relapse
to be statistically significant included gonial angle with a movement
relapse of 4.9 (145  13.5 vs. 140  11.7 , p Z 0.09), and SNA 7.6 <0.0001* 1.9 0.003*
mandibular length with a relapse of 0.4 mm SNB 2.6 0.0095* 0.8 0.38
(104.6  6.4 mm vs. 105  5.6 mm, p Z 0.81). Though not ANB 5 0.0006* 1.2 0.33
statistically significant, the relapse of gonial angle Pg to NB (mm) 10 <0.0001* 0.2 0.88
approached 50%, while mandibular length maintained its Wits (mm) 6.6 0.0008* 3.5 0.042*
surgical change. Tables 2 and 3 summarize the movements Antegonial angle 3.9 <0.0001* 0.27 0.69
postsurgically and subsequent relapse. Gonial angle 10.2 0.002* 4.9 0.09
The palatal plane angle is positive if the anterior tip is Midface 8.5 <0.0001* 2.8 0.021*
pointed downward relative to the Frankfort Plane and length (mm)
negative if it is tipped upward relative to the Frankfort Mandibular 9.2 0.003* 0.6 0.81
Plane (Figure 3). There was a complete relapse in the length (mm)
change in palatal plane angle. Thus, the anterior impaction
*Represents statistically significant p-value.
and posterior extrusion of the maxilla relapsed by 100%.

Please cite this article in press as: Nguyen PD, et al., Long-term orthognathic surgical outcomes in Treacher Collins patients, Journal of
Plastic, Reconstructive & Aesthetic Surgery (2015), http://dx.doi.org/10.1016/j.bjps.2015.10.036
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Long-term Treacher Collins orthognathic outcomes 5

Figure 3 Palatal plane angle.

in these patients is to restore occlusion and reduce the
anterior open bite, increase the posterior pharyngeal
airway, and improve facial harmony. Le Fort I osteotomy
corrects the posterior vertical, anteroposterior, and trans-
verse deficiencies. Counterclockwise rotation of the
occlusal plane lengthens the posterior maxilla and impacts
the anterior maxilla to improve the lipeincisor association.
Bilateral sagittal split mandibular osteotomies advance and
rotate the mandible counterclockwise, correcting the
anterior open bite. Some centers have also touted the use
of three-dimensional computed tomography scans for pre-
operative planning allowing for virtual simulation.17
This study quantifies the differences in cephalometric
variables in the Treacher Collins patients who have required
orthognathic surgery compared to their unoperated coun-
terparts. These results reflect the spectrum of severity of
the Treacher Collins syndrome. In patients in whom
orthognathic surgery is not required, there is increased
midface projection and a less obtuse mandibular plane
angle than the S group. Clinically, these unoperated
patients exhibit a normal occlusal relationship not typical
of the operated patients who all had anterior open-bite
malocclusion. In patients who do require orthognathic
surgery, the angle of the mandibular plane is increased with
a concomitant anterior open bite. There is evidence that
this relation persists as the Treacher Collins patient ages,
though in the control population, the mandibular plane
flattens in adolescence.16
Interestingly, there was a male predominance in the
unoperated group (nine of 11, 81.8%) compared to the
group requiring orthogonathic surgical correction, which
had a female predominance (seven of 11, 63.4%). This is
consistent with our previous findings on cephalometric
analysis of the Treacher Collins patients, in which the fe-
male patients exhibited a more severe profile than their
male counterparts.11
The aim of this investigation is to evaluate the stability
of orthognathic movements in the Treacher Collins pa-
tients. It has been observed that when relapse occurs, it
usually does so within a year’s time. In this study, all the

Figure 4 Lateral cephalogram at presurgical (T2), immediate postsurgical (T3), and at least 1-year follow-up (T4).

Please cite this article in press as: Nguyen PD, et al., Long-term orthognathic surgical outcomes in Treacher Collins patients, Journal of
Plastic, Reconstructive & Aesthetic Surgery (2015), http://dx.doi.org/10.1016/j.bjps.2015.10.036
 + MODEL
6 P.D. Nguyen et al.
Figure 5 Pre- and above 1 year postoperative image of female Treacher Collins patient who underwent bimaxillary orthognathic
surgery.
patients had a follow-up of at least 1 year, with a range of
1e3 years. Longer follow-up is challenging at our institu-
tion, as patients are discharged from continued care at this
pediatric hospital at the age of 22, while bimaxillary sur-
gery is only performed at skeletal maturity.
Superior repositioning of the maxilla is the most stable
orthognathic procedure, closely followed by mandibular
advancement. These procedures are defined as highly sta-
ble, with a >90% chance of <2-mm change and almost no
chance of >4-mm change during the first postsurgical year
in movements of <10 mm.18 In this regard, although there
was some relapse of SNA and midface length, this was
within the described expectation, with SNA relapsing by 2
and midface length by 2.8 mm. Wits appraisal also only
relapsed by 3.5 mm. Wits appraisal is based on the occlusal
plane and serves as supplementary information as it does
not use cranial or pericranial landmarks. It has been
described as giving a more accurate picture of any antero-
posterior skeletal disharmonies between the maxilla and
the mandible.19
This relapse did not affect the final occlusal result as
postoperative orthodontic treatment also likely provided
compensatory movements. The orthognathic setup for the
treatment of these patients invariably involved advance-
ment of the maxilla with anterior maxillary impaction and
posterior extrusion. This would clinically have been ex-
pected to result in increase in anterior open bite occlusion.
The sagittal split rotates the mandible counterclockwise to
attain occlusion. Relapse in the palatal plane is compen-
sated by some mandibular plane angle relapse at the same
time, keeping occlusion intact. Any posterior open bite
related to the relapse of the palatal plane angle may also
have been further compensated by further eruption of the
posterior teeth.
From a technical aspect, the short ramal height and high
antegonial notch make sagittal split technically challenging
Please cite this article in press as: Nguyen PD, et al., Long-term orthognathic surgical outcomes in Treacher Collins patients, Journal of
Plastic, Reconstructive & Aesthetic Surgery (2015), http://dx.doi.org/10.1016/j.bjps.2015.10.036
as sufficient bony contact may be difficult with large ad-
vancements. In addition, a restrictive soft tissue profile of
the lower jaw may also add to the propensity for relapse
after the patient has been placed into occlusion. The
greater the required surgical advancement and counter-
clockwise rotation, the greater the restricting forces of the
soft tissues. Although we did not observe significant relapse
in the mandibular length in our series, significant palatal
plane relapse was found with relapse in gonial angle
approaching significance. The senior surgical authors
(J.H.P. and C.R.F.) use lag screws or fixation screws,
respectively, for bony fixation of the mandible after sagittal
split. This requires adequate apposition of bony contact of
the distal and proximal segments. Additional strategies
include rigid plate fixation in combination with cancellous
bone graft. The reduced bone stock of Treacher Collins
patients for large advancements remains a clinical orthog-
nathic surgical challenge.
Maintaining surgical changes in this population of pa-
tients is difficult and well documented.10,20,21 Tessier has
documented that the midfacial segment combined with
mandibular lengthening have a strong tendency to relapse
due to the backward pull of the soft tissues, as compared to
the stability of orbital movements in this population.12
Others have proposed staged procedures beginning early
in the second decade of life with chin advancement com-
bined with malar osteotomies at the first stage, followed by
further chin advancement, vertical movement of the
maxilla, and sagittal split osteotomy.22 In addition, there
has been suggestion that genioplasty distraction may be
associated with greater advancement and decreased
relapse than acute procedures alone.23 Distraction may also
potentially lower the mandibular plane allowing descent
and growth of the posterior maxilla. However, this
compensation is not enough to close a residual posterior
open bite. These procedures may be a useful adjunct in
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Long-term Treacher Collins orthognathic outcomes
airway management, though often require secondary
orthognathic surgery to establish occlusions.
In summary, our series shows that bimaxillary surgery in
the Treacher Collins patients may be performed with skel-
etal and dental stability, within the accepted relapse rate
for Class II malocclusion movements. Le Fort I osteotomy to
correct maxillary clockwise rotation tends to relapse;
however, mandibular counterclockwise rotation and bilat-
eral sagittal split osteotomies remain stable over time.
Knowledge of these patterns of movement over time sets
up expectations and is useful to counsel patients.
Statement of financial interest
We hereby certify that, to the best of our knowledge, no
financial support or benefits have been received by any co-
author, by any member of our immediate family or any
individual or entity with whom or with which we have a
significant relationship from any commercial source which
is related directly or indirectly to the work which is re-
ported in the article.
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