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J Oral Maxillofac Pathol. 2011 Sep;15(3):348-51. doi: 10.4103/0973-029X.86722.

Treacher Collins syndrome.

Journal of oral and maxillofacial pathology : JOMFP

Prachi Shete, Jv Tupkari, Tabita Benjamin, Aarti Singh

Affiliations

  1. Departments of Oral Pathology and Microbiology, Government Dental College and Hospital, Mumbai, India.

PMID: 22144845 PMCID: PMC3227269 DOI: 10.4103/0973-029X.86722

Abstract

Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder of craniofacial development. It is a congenital malformation of first and second branchial arch which may affect the size and shape of the ears, eyelids, cheek bones, and jaws. The extent of facial deformity varies from one affected individual to another. A case of 20-year-old boy having TCS is briefly described in this article.

Keywords: Autosomal dominance; Treacher Collins syndrome; first arch derivative; genetic disease; orofacial features

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