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Bilateral choanal atresia in two members of one family
Journal of Pediatric Surgery
|April 1, 1983
Insights
Bilateral choanal atresia can occur with or without Treacher Collins syndrome. This suggests a potential link to defective first visceral arch mesenchyme ossification, impacting craniofacial development.
Area of Science:
- Medical Genetics
- Developmental Biology
- Otolaryngology
Background:
- Bilateral choanal atresia is a congenital condition affecting newborns.
- Treacher Collins syndrome is a genetic disorder characterized by craniofacial abnormalities.
Abstract:
Two children are presented with bilateral choanal atresia: a girl with the typical features of the Treacher Collins syndrome, and a boy, a third cousin of the girl, without mandibulo-facial dysostosis. Simultaneous occurrence of choanal atresia and the Treacher Collins syndrome may be based on a defective ossification of the mesenchyme of the first visceral arch. Choanal atresia may be due to nonabsorption of the bucconasal membrane and/or extension of the sphenoid or palate bone.