Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, And Brachytelephalangy

Buttiens et al. (1989) described a brother and 2 sisters with Dandy-Walker malformation, severe mental retardation, macrocephaly, facial dysmorphism, extreme myopia, and brachytelephalangy with short and broad fingernails. The parents were normal and unrelated. The Dandy-Walker malformation resulted in secondary hydrocephalus. The authors suggested that this is a distinct autosomal recessive syndrome.