Treacher Collins Syndrome

Treacher Collins syndrome is a rare autosomal dominant condition, predominantly affecting the orofacial structures. The incidence varies between 1 in 40,000 to 1 in 70,000 per live births. 40% of the cases have a hereditary factor while 60% are due to genetic mutations. The features include antimong...

Full description

Saved in:
Bibliographic Details
Published inJournal of Indian Academy of Oral Medicine and Radiology Vol. 22; no. 1; pp. 49 - 52
Main Authors Alexander, Sherry, Peter
Format Journal Article
LanguageEnglish
Published Mumbai Medknow Publications and Media Pvt. Ltd 01.01.2010
Medknow Publications & Media Pvt. Ltd
Wolters Kluwer Medknow Publications
Subjects
Craniofacial dysostosis
Mandibulofacial dysostosis
Treacher Collins syndrome
Online AccessGet full text

Cover

More Information
Summary:Treacher Collins syndrome is a rare autosomal dominant condition, predominantly affecting the orofacial structures. The incidence varies between 1 in 40,000 to 1 in 70,000 per live births. 40% of the cases have a hereditary factor while 60% are due to genetic mutations. The features include antimongloid slanting of the eyes, deformed or underdeveloped pinna of the ear, retrognathic mandible, microgenia, hypoplasia of the facial bones. In some patients the retrognathic mandible may cause difficulty in breathing and swallowing and may require surgical interventions. The present article describes the clinical features of Treacher Collins syndrome as seen in 3 cases.
ISSN:0972-1363
0975-1572
DOI:10.4103/0972-1363.166907