Treacher Collins syndrome is rare, genetically transmitted congenital malformation syndrome which has an incidence of 1/50,000 live births and involving primarily the facial bones. It is inherited as an autosomal dominant trait with variable
expressivity.
The chief features of this syndrome including the following: hypoplasia of the facial bones especially the malar bones and mandible, antimongoloid slant of the palpebral fissures, coloboma of outer third of lower eyelid, malformation of the
auricles
with external ear canal defects and frequent conductive deafness, cleft palate.
We experienced a case of Treacher Collins syndrome in a male infant with the chief complaints of hypoplastic mandible, antimongoloid palpebral fissue and ear malformation. We report the case with a brief review of literatures.
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