A Sibship with a Neuronal Migration Defect, Cerebellar Hypoplasia and Congenital Lymphedema

Abstract

We describe a sibship of three males, including monozygous twins, with cerebral and cerebellar malformations and congenital lymphedema. The parents of these children are related, being half second cousins. The clinical, radiologic and histopathologic features do not fit a previously recognized pattern. We feel this sibship represents a syndrome that has not been previously described, though it closely resembles the Walker Warburg syndrome.