A Case Report of Treacher Collins Syndrome; an Unusual Case

International Journal of Medical Science

© 2018 by SSRG - IJMS Journal

Volume 5 Issue 6

Year of Publication : 2018

Authors : Dr.Premita Devi Nandeibam, Dr.Abhinav Kumar, Dr.Parag Narayana Kisave, Dr.Shalini Yurembam and Dr.Bharati Lisam

10.14445/23939117/IJMS-V5I6P105

How to Cite?

Dr.Premita Devi Nandeibam, Dr.Abhinav Kumar, Dr.Parag Narayana Kisave, Dr.Shalini Yurembam and Dr.Bharati Lisam, "A Case Report of Treacher Collins Syndrome; an Unusual Case," SSRG International Journal of Medical Science, vol. 5,  no. 6, pp. 22-26, 2018. Crossref, https://doi.org/10.14445/23939117/IJMS-V5I6P105

Abstract:

Treacher Collins syndrome (TCS) also known as Mandibulo facial dysostosis or Treacher Collins-Frances chetti syndrome, is an a typical autosomal dominant disorder of craniofacial development affecting the development of structures derived from the first and second brachial arches during early embryonic development.It is conspicuous at birth and it is caused by a mutation in the TCOF1 (Treacle ribosome biogenesis factor1) gene on chromosome 5. Prevalence of TCS is 1:50,000. Half of cases arise as the sporadic mutation and the rest are familial. Here we present a case report of TCS with their extraoral and intraoral findings, their radiographic findings and treatment plan. We have also discussed about etymological factors, clinical features, differential diagnosis and multidisciplinary approach.

Keywords:

Treacher Collins syndrome, brachial arches, TCOF1, prevalence, chromosome 5, sporadic mutation, multidisciplinary approach.

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