Aase-Smith Syndrome 1례

A Case of Aase-Smith Syndrome

저자들은 Dandy-Walker 기형, 손의 이상, 관절 구축, 구개열을 동반한 Aase-Smith 증후군 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

The Aase-Smith syndrome is characterized by Dandy-walker malformation, hand abnormalities, joint contractures of the hands, and cleft palate. It is known to be inherited as autosomal dominant trait and to have variable patterns of expression. We experienced a case of a 3 day old male neonate who had cleft palate, joint contractures, long fingers, and Dandy-Walker malformation with a agenesis of cerebellar vermis, partial agenesis of corpus callosum, cerebellar atrophy, lissencephaly, and microcephaly. We reported a case with a brief review of literatures.