|Year : 2019 | Volume
| Issue : 4 | Page : 426-428
Treacher collins syndrome: A rare case report
SR Ashwinirani1, Rutuja Sancheti2, Srigiri Surath2, Girish Suragimath3
1 Department of Oral Medicine and Radiology, School of Dental Sciences, Karad, Maharashtra, India
2 Department of Dental Surgery, School of Dental Sciences, Karad, Maharashtra, India
3 Department of Periodontology, School of Dental Sciences, Karad, Maharashtra, India
|Date of Submission||18-Jul-2019|
|Date of Decision||22-Sep-2019|
|Date of Acceptance||05-Nov-2019|
|Date of Web Publication||16-Jul-2020|
Dr. S R Ashwinirani
Department of Oral Medicine and Radiology, School of Dental Sciences, Karad, Maharashtra
Source of Support: None, Conflict of Interest: None
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
|How to cite this article:|
Ashwinirani S R, Sancheti R, Surath S, Suragimath G. Treacher collins syndrome: A rare case report. J Datta Meghe Inst Med Sci Univ 2019;14:426-8
| Introduction|| |
Treacher Collins syndrome More Details (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. 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 appearance [Figure 1]. External ear malformations in the form 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.
|Figure 2: Lateral view of the patient showing tongue-shaped process of hair|
Click here to view
|Figure 3: Intraoral view of the patient showing narrow high-arched palate |
Click here to view
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.
|Figure 4: Orthopantamogram showing prominent antegonial notches bilaterally|
Click here to view
| 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. 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. 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. 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 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. 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.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other 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
Conflicts of interest
There are no conflicts of interest.
| References|| |
Dunn JT, Crutchfield HE, Gutekunst R, Dunn AD. Two simple methods for measuring iodine in urine. Thyroid 1993;3:119-23.
Jones KL, Smith DW, Harvey MA, Hall BD, Quan L. Older paternal age and fresh gene mutation: Data on additional disorders. J Pediatr 1975;86:84-8.
McKenzie J, Craig J. Mandibulo-facial dysostosis (Treacher Collins syndrome). Arch Dis Child 1955;30:391-5.
Franceschetti A, Klein D. The mandibulofacial dysostosis; a new hereditary syndrome. Acta Ophthalmol (Copenh) 1949;27:143-224.
Chemke J, Mogilner BM, Ben-Itzhak I, Zurkowski L, Ophir D. Autosomal recessive inheritance of Nager acrofacial dysostosis. J Med Genet 1988;25:230-2.
[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]