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Familial Treacher-Collins syndrome
P S Murty1, P Hazarika, B Rajshekhar
1Kasturba Medical College & Hospital, Manipal, India.
The Journal of Laryngology and Otology
|July 1, 1988
Summary
Treacher-Collins syndrome, a genetic disorder affecting facial bone development, often involves hearing loss. This study details a multi-generational family with Treacher-Collins syndrome, highlighting its impact on hearing.
Area of Science:
- Genetics and Developmental Biology
- Craniofacial Anomalies
- Otolaryngology
Background:
- Major congenital malformations of the first and second branchial arch derivatives, like mandibulofacial dysostosis, have a known genetic basis.
- Treacher-Collins syndrome (TCS) is an autosomal dominant disorder, frequently arising from spontaneous mutations, characterized by craniofacial hypoplasia.
- Key features include malar, mandibular, and maxillary hypoplasia, antimongoloid palpebral slant, receding chin, and significantural anomalies.