Hydrocephalus With Cerebellar Agenesis

Clinical Features

Riccardi and Marcus (1978) reported a kindred in which 2 brothers and probably a maternal great-uncle had hydrocephalus, cerebellar agenesis, and absence of the foramina of Luschka and Magendie. The authors emphasized the nonspecificity of the Dandy-Walker anomaly, which the findings in this case represent. The same X-linked disorder may have been present in the 3 males in 1 family (2 brothers and maternal uncle) reported by Renier et al. (1983).

Stratton and Bluestone (1991) described a family in which a male infant had features of otopalatodigital syndrome type II (OPD2; 304120) as well as hydrocephalus and cerebellar hypoplasia; 2 maternal uncles died neonatally with congenital hydrocephalus and digital abnormalities consistent with OPD II. Stratton and Bluestone (1991) suggested that the 2 entities are determined by mutations at neighboring loci on the X chromosome.