Fetal neuropathology of proliferative vasculopathy and hydranencephaly-hydrocephaly with multiple limb pterygia

Abstract

We describe the third family in which fetuses have very narrow cerebral cortical mantles, enlarged ventricles, a peculiar proliferation of cerebral cortical arteries, and hypoplasia of muscle. We describe the youngest fetus yet reported. Previously this condition was interpreted as destructive, perhaps due to infection. We believe it is a primary failure of neuroectodermal cells to form in the ventricular zone with too few resulting cells in cerebral cortex and that the abnormal vascular proliferation is part of the malformation. The involvement of both sexes suggests autosomal recessive inheritance.