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Case Report

Treacher Collins Syndrome: A Rare Case Report

S. R. Ashwinirani, Rutuja Sancheti1, Srigiri Surath1, Girish Suragimath2
Departments of Oral Medicine and Radiology, 1Dental Surgery and 2Periodontology, School of Dental Sciences, Karad, Maharashtra, India

Abstract
Treacher Collins syndrome (TCS) is a congenital disorder of craniofacial development characterized by numerous developmental anomalies
confined to head and face. The jaws, ears, and eyes are commonly affected causing respiratory, hearing, and visual disturbances. This report
represents a case report of TCS in an 11‑year‑old male patient.

Keywords: Autosomal, hypoplasia, mandible, palpebral fissures, Treacher Collins syndrome

Introduction appearance [Figure 1]. External ear malformations in the form

Treacher Collins syndrome (TCS) is an autosomal dominant
disorder of craniofacial development. It is also known as
mandibulofacial dysostosis and Franceschetti–Zwahlen–Klein
syndrome. It is named after Edward Treacher Collins, who
has given the essential components of condition in 1900.
TCS occurs with an incidence of 1:50,000 live births, and
both genders are equally affected.[1] It affects structures which
are derivatives of the first and second brachial arches. The
most common features are the antimongoloid slanting of the
palpebral fissures, colobomas of the lower eyelid, hypoplasia
of the zygoma and mandible, and a variety of ear abnormalities.
The present case report illustrates the orofacial features of TCS.
Case Report
An 11‑year‑old male patient reported to the Department of Oral
Medicine and Radiology with a chief complaint of forwardly
placed upper anterior teeth. Previous dental history was
noncontributory. Family history was not significant. Extraoral
examination revealed a narrow face with mandibular and
zygomatic hypoplasia, with antimongoloid face and slanting
of the eyes. The patient’s eyes were remarkable, and there was
partial absence of lower eyelashes. There was hypoplasia of
malar prominence resulting in sunken appearance, causing
the nose to appear very prominent with evident micrognathia.
The maxilla appears to be prognathic; thus, face had bird‑like
Submission: 18-Jul-2019 Revised: 22-Sep-2019
Accepted: 05-Nov-2019 Published: 16-Jul-2020
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of a rudimentary pinna were present bilaterally. The external
ear canals were atresia with the absence of opening from the
external to the internal ear on the left side, with 50% reduction
in hearing [Figure 2]. Another interesting feature was the
presence of tongue‑shaped process of hair on the lateral side
of face [Figure 2]. Intraoral examination revealed narrow
high‑arched palate [Figure 3]. The maxillary incisors were
proclined with anterior open bite and class 2 malocclusion
bilaterally posteriorly. There were decayed 83, 84, 46, 74, and
16. A provisional diagnosis of Angles class 2 malocclusion
with division 1 is considered, and based on the extraoral
and intraoral features, TCS was considered. The differential
diagnoses of Miller’s acrofacial dysostosis, Nager’s acrofacial
dysostosis, oculoauriculovertebral spectrum, and Goldenhar
syndrome were considered.
Orthopantamogram radiograph of the patient revealed
prominent antegonial notch bilaterally and deviated nasal
septum [Figure 4]. The lateral cephalogram has shown
prominent antegonial notch [Figure 5]. These features confirm
the final diagnosis of TCS. The orthodontic treatment for the
patient was planned after a year since the second molars were
not erupted. The restoration of all carious teeth was carried out.
Address for correspondence: Dr. S. R. Ashwinirani,
Department of Oral Medicine and Radiology, School of Dental Sciences,
Karad, Maharashtra, India.
E‑mail: id‑drashwiniranisr@gmail.com
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DOI: How to cite this article: Ashwinirani SR, Sancheti R, Surath S,

10.4103/jdmimsu.jdmimsu_110_19 Suragimath G. Treacher collins syndrome: A rare case report. J Datta Meghe
Inst Med Sci Univ 2019;14:426-8.

426 © 2020 Journal of Datta Meghe Institute of Medical Sciences University | Published by Wolters Kluwer - Medknow
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Ashwinirani, et al.: Treacher collins syndrome
Figure 1: Frontal view of the patient
Figure 3: Intraoral view of the patient showing narrow high-arched palate
Discussion
TCS is an autosomal disorder limited mostly to head and face.
In 40% of cases having a previous family history, the rest 60%
arise as a result of gene mutation.[2] In the present case, the
patient had no family history of syndrome. Many hypotheses
were put forward to explain the pathogenesis of TCS. The
structures affected in TCS are derived from first and second
pharyngeal arch, groove, and pouch. McKenzie and Craig
suggested that the cause of abnormality is a defect of stapedial
artery, which causes maldevelopment in its own field as well
as in the region of first visceral arch.[3] Valdez et al. suggested
that haploinsufficiency of the treacle might cause insufficient
rRNA production in the perfusion neural fold, resulting in
abnormal craniofacial development.
Franceschetti and Klein revived the literature and described
typical features of TCS. [4] After the description was
published, some of the features were regarded as of less
importance; thus Axelsson et al. (1963) gave the obligatory
features: (1) antimongoloid palpebral fissures; (2) anomaly
of the lower lid/deficient lashes, coloboma of outer third, or
Journal of Datta Meghe Institute of Medical Sciences University ¦ Volume 14 ¦ Issue 4 ¦ October-December 2019
Figure 2: Lateral view of the patient showing tongue-shaped process
of hair
Figure 4: Orthopantamogram showing prominent antegonial notches
bilaterally
both; (3) hypoplasia of the malar bone; and (4) hypoplasia
of the mandible. In our case, all the obligatory features
were present.
Nager’s and Miller’s syndrome should be included in the
differential diagnosis of TCS because of similar facial features,
especially in the region of eyes (downward slanting deficiency
of the eye lashes); however, the mandible is more hypoplastic,
lower lid coloboma rare, and preaxial limb abnormalities; these
are consistent features of Nager’s syndrome unlike TCS.[5]
Miller’s syndrome is also similar in the facial features to TCS;
in addition, it has postaxial limb defect and ectropion or out
turning of the lower lids.
Management of individuals affected with TCS requires
a multidisciplinary approach involving craniofacial
surgeons, orthodontists, pedodontists, ophthalmologists,
and otolaryngologists. Depending on clinical manifestation
and severity, management may require tracheostomy at
birth, multiple surgeries to correct eye lid coloboma and
cleft palate.
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Ashwinirani, et al.: Treacher collins syndrome

clinical information to be reported in the journal. The patients

understand that their names and initials will not be published
and due efforts will be made to conceal their identity, but
anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.

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Figure 5: Lateral cephalogram showing prominent antegonial notch
3. McKenzie J, Craig J. Mandibulo‑facial dysostosis
(Treacher Collins syndrome). Arch Dis Child 1955;30:391‑5.
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Declaration of patient consent dysostosis; a new hereditary syndrome. Acta Ophthalmol (Copenh)
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