Treacher Collins Syndrome: A Case Report and Review

Treacher Collins syndrome is an autosomal dominant genetic disorder that results from improper development of the first and second pharyngeal arches. Disruption in the formation and migration of neural crest cells leads to facial malformation. Face shows a convex profile with hypoplastic malar bones...

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Bibliographic Details
Published in:GAIMS Journal of Medical Sciences 2024-08, Vol.4 (2), p.133-136
Main Authors: Sagnik Roy, Nivedita Roy
Format: Article
Language:English
Subjects:
downslanting palpebral fissure
malar hypoplasia
micrognathia
neural crest cells
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Summary:Treacher Collins syndrome is an autosomal dominant genetic disorder that results from improper development of the first and second pharyngeal arches. Disruption in the formation and migration of neural crest cells leads to facial malformation. Face shows a convex profile with hypoplastic malar bones as well as mandibular hypoplasia. Eyes typically have antimongoloid slant often with lower lid coloboma. External ear is deformed and patients often suffer from conductive deafness. Respiratory distress is common due to hypoplastic facial bones. Though intelligence remains unaffected, such patients are susceptible to depression. Management of these patients require multidisciplinary approach to ensure a decent quality of life.
ISSN:2583-1763
DOI:10.5281/zenodo.13268158