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KMID : 0361019750180040067
Korean Journal of Otolaryngology - Head and Neck Surgery
1975 Volume.18 No. 4 p.67 ~ p.70
A case of Treacher-Calms syndrome

Abstract
Treacher-Collins Syndrome (Franceschetti-Zwahlen-Klein Syndrome) is very rare, and inherited as an autosomal dominant with incomplete penetrance and variable expressivity.
It is developmental and embryologic malformation of chiefly mandibulo-facial dysostosis. with various anomalies including micrognathia, antimongoloid obliquity of palpebral fissure; coloboma of outer third of lower eyelid, ear malfermations, cleft palate and straight fronto -nasal angle
It was described by Treacher-Collins, in 1900 and by Franceschetti, in 1944.
Author report a case of. 21-years-old male patient with the chief complaints of poor mandibular development, antimongoloid obliquity of palpebral fissure, coloboma of outer third of lower eyelid, bilateral hearing impairment and disturbance of intelligence which was seem to have Treacher-Collins syndrome with the available examination and references.
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