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BMJ Case Reports 2013; doi:10.1136/bcr-2013-009341
  • CASE REPORT

Treacher Collins syndrome: a case report

  1. Udita Singh
  1. Department of Oral Medicine & Radiology, Kothiwal Dental College & Research Center, Moradabad, Uttar Pradesh, India
  1. Correspondence to Dr Ravi Prakash Sasankoti Mohan, sasan_ravi{at}rediffmail.com

Summary

Treacher Collins syndrome is a rare autosomal dominant disorder of craniofacial development. The fully expressed phenotype exhibits characteristic dysmorphic features involving the face, eyes, mandible and ears. We report a case of a 17-year-old woman presenting with the typical orofacial implications of this syndrome.

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