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CASE REPORT
Year : 2008  |  Volume : 20  |  Issue : 1  |  Page : 32-35 Table of Contents   

Treacher Collins syndrome


1 Department of Oral Medicine and Radiology, Sibar Institute of Dental Sciences, Takkellapadu, Guntur, Andra Pradesh, India
2 Department of Oral Medicine and Radiology, The Oxford Dental College, Hospital and Research Centre, Bangalore, Karnataka, India
3 Department of Oral Medicine and Radiology, Darshan Dental College, Udaipur, Rajasthan, India

Correspondence Address:
Y Samata
Dept of Oral Medicine and Radiology, Sibar Institute of Dental Sciences, Takkellapadu, Guntur - 522509
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-1363.44359

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   Abstract 

Treacher Collin's syndrome is a rare syndrome that is characterized primarily by defects of the structures derived from first and second branchial arches. It is a group of closely related defects of head and face; often hereditary/familial in pattern. We report a case of a 20 year old female patient who presented with features of this syndrome.

Keywords: Treacher Collin′s syndrome, branchial arches


How to cite this article:
Samata Y, Ganapathy K S, Latha S, Padmavathi B N. Treacher Collins syndrome. J Indian Acad Oral Med Radiol 2008;20:32-5

How to cite this URL:
Samata Y, Ganapathy K S, Latha S, Padmavathi B N. Treacher Collins syndrome. J Indian Acad Oral Med Radiol [serial online] 2008 [cited 2020 Jan 22];20:32-5. Available from: http://www.jiaomr.in/text.asp?2008/20/1/32/44359


   Introduction Top


Treacher Collin's syndrome was first described in 1846 and was given its name in 1900 by a British opthmologist named Dr. Treacher Collins. This syndrome is otherwise known as Mandibulofacial dysostosis/Franceshetti syndrome. [1] Treacher Collin's syndrome is a low incidence disorder. This genetic disorder is autosomal dominant and the risk of transmitting the disease from an affected parent to a child is about 50%. [2] This disorder appears to affect both males and females equally.

Treacher Collin's syndrome results from a retardation/failure of differentiation of the maxillary mesoderm at the 50 mm stage of intrauterine development (at about 2 months). [3] A defect in the stapedial artery during embryogenesis may be responsible for the anatomic defects seen. Stapedial artery dysfunction gives rise to defects of the stapes and incus and the first arch vessels supplying the maxilla. Failure of the inferior alveolar artery to develop an ancillary vascular supply gives rise to mandibular abnormalities. [4]

Individuals have a convex profile with a prominent nose and retrusive chin. It is generally a bilateral anamoly with a characteristic facies, including downward sloping of the palpebral fissures, colobomas of the lower eyelids, mandibular and midface hypoplasia and deformed pinnas. [5],[6]

Improper orientation and hypoplasia of the mandibular elevator muscles, resulting from an aplastic/hypoplastic zygomatic arch, may also be contributory. Mandibular retrognathia and midface vertical excess may be accentuated by the pull of abnormally oriented mandibular elevator muscles causing a backward rotation in the mandibular growth pattern.

Great emphasis is placed on the genetic causes of Treacher Collin's syndrome, the specific gene associated has been identified as the 'Treacle gene' and has been located on the long arm of (q) of chromosome 5(5q32-33.1). [7],[8]

Recent animal experiments suggest a possible teratogenic role of hypervitaminosis A in the causation of facial defects in this syndrome.


   Case Report Top


A 20-year-old female patient reported with a chief complaint of malaligned teeth and a desire to get the same corrected. Patient's family history revealed that her brother and father also have similar malalignment.

The patient presented with atypical facial features, she had a relatively large/prominent nose and a characteristic fish like mouth with incompetent lips. Her eyes had laterally downward sloping palpebral fissures (antimongoloid obliquity).

Notching of outer part of lower eyelids (colobomas) was seen and a deficiency of the lower eyelashes (medial to colobomas) was present [Figure 1]. She had a convex profile due to a severely retruded mandible. There were bilateral atypical tongue shaped processes of the hairline (hairlick) extending towards the cheek [Figure 3] and [Figure 4]. Overall facial appearance could be described as 'bird-like' or 'fish-like'. Ear abnormalities were not seen in the above-mentioned case.

Intraoral examination revealed a high arched palate and malocclusion with anterior open bite [Figure 2].

A provisional diagnosis of Treacher Collin's syndrome was given and an orthopantomograph was advised.

Orthopantomograph revealed a short mandibular ramii with a steep mandibular angle and an accentuation of the antegonial notch. The zygomatic arch was directed superiomedially. Cupid bow shaper occlusal plane was present [Figure 5].

Correlating the clinical and radiological findings a diagnosis of Treacher Collin's syndrome was made. The patient's father and sibling were subjected to clinical and radiological examination and both showed similar findings [Figure 6],[Figure 7],[Figure 8],[Figure 9],[Figure 10].


   Discussion Top


 Treacher Collins syndrome More Details classically presents with: [9]

  • Breathing problems because of unusually narrow nasal passages.
  • Eating difficulties because of an enlarged mouth and malformed jaw and chin.
  • Hearing loss due to abnormality of the outer and middle ear, which conduct sound to nerve endings.
  • Strabismus may also be seen; eyes have a tendency to dry out which can lead to infection.
  • Abnormally small/absent thumb.
  • Cleft palate often occurs with Treacher Collin's syndrome.


The management of Treacher Collin's syndrome requires co-ordinated efforts of a team of specialists including pediatricians, surgeons, ENT specialists, speech therapists, oral surgeons and orthodontists to plan effective rehabilitation procedures. [10]

Due to the recent discovery of the defective gene that causes Treacher Collins, researchers are developing tests that will aid in more than accurate prenatal diagnosis of affected individuals. A prenatal diagnosis may be done by chorionic villus sampling at 10.5-12 weeks of pregnancy/amniocentesis between 14 and 18 weeks, thus providing a chance to eliminate the gene from future generations' altogether.

 
   References Top

1.Gorlin RJ, Cohen MM Jr, Levin LS. Mandibulofacial dysostosis. In: Syndromes of the head and neck. 3 rd ed. New York: Oxford University Press; 1990. p. 649-52.   Back to cited text no. 1    
2.Rovin S, Dachi SF. Mandibular dysostosis: A familial study of five generations. J Pediatr 1964;64:215-21.  Back to cited text no. 2    
3.Idem. The pathogenesis of the Treacher Collins Syndrome (mandibulofacial dysostosis). Br J Oral Surg 1975;13:1.  Back to cited text no. 3    
4.Regezi JA, Sciubba JJ. Oral Pathologic correlations. W.B. Saunders Company; 1989.  Back to cited text no. 4    
5.Rajsekhar S, Govilla V, Mythili R. Treacher Collin's syndrome: A case report. IDA 1998;69:224-5.  Back to cited text no. 5    
6.Shafer WG, Hine MK, Levy BM. A textbook of oral pathology. 4 th ed. Philadelphia PA: Saunders; 1997. p. 681-2.  Back to cited text no. 6    
7.Dixon MJ. Treacher collins syndrome. Hum Molec Genet 1996;1391-6.  Back to cited text no. 7    
8.Neville, Damm, Allen, Bouquot. A textbook of oral and maxillofacial pathology. 2 nd ed. Saunders; 2002. p. 42-3.  Back to cited text no. 8    
9.Bhatia R, Deka RC. Treacher Collin's Syndrome with deviated nasal septum. Indian J Pediatr 1984;51:739-41.  Back to cited text no. 9    
10.Posnick JC. Treacher Collin's Syndrome: Perspectives in evaluation and treatment. J Oral Maxillofac Surg 1997;55:1120-33.  Back to cited text no. 10    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10]



 

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