Journal of the Korean Child Neurology Society 1998;6(1):113-117

A Case of Aase-Smith Syndrome.

Dong Jun KIM 1 ; In Joon SEOL

Affiliations

+expand

Keywords

Aase-Smith syndrome

Country

Republic of Korea

Language

Korean

Abstract

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.