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Treacher Collins syndrome: a case report.

Ravi Prakash Sasankoti Mohan¹, Sankalp Verma, Neha Agarwal

¹Department of Oral Medicine & Radiology, Kothiwal Dental College & Research Center, Moradabad, Uttar Pradesh, India. sasan_ravi@rediffmail.com

BMJ Case Reports

|May 28, 2013

Summary

Treacher Collins syndrome, a rare genetic disorder, affects craniofacial development. This report details a case highlighting its characteristic facial, eye, mandible, and ear abnormalities.

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Area of Science:

Genetics
Developmental Biology
Craniofacial Medicine

Background:

Treacher Collins syndrome is a rare autosomal dominant disorder.
It is characterized by significant craniofacial developmental abnormalities.

Observation:

A case study of a 17-year-old female patient is presented.
The patient exhibited typical orofacial features associated with Treacher Collins syndrome.

Findings:

The syndrome presents with distinct dysmorphic features affecting the face, eyes, mandible, and ears.
This case illustrates the classic phenotype of Treacher Collins syndrome.

Implications:

Understanding the phenotype is crucial for diagnosis and management.
Further research can aid in developing targeted therapies for craniofacial disorders.