Lethal olivopontoneocerebellar hypoplasia with dysmorphic features in sibs.

Abstract

This report describes the clinical and neuropathological features in male and female sibs who died shortly after birth as a result of frequent convulsions and lack of spontaneous respiratory effect. Both sibs had a prominent occiput with mild contractures and the female also had overlapping fingers and rockerbottom feet. The genetic and neuropathological… (More)

3 Figures and Tables

Topics

  • Presentations referencing similar topics