Neuropathological findings in the cerebro-oculo-facio-skeletal (Pena-Shokeir II) syndrome

An autopsy case is described of an infant with cerebro-oculo-facio-skeletal (COFS) (Pena-Shokeir II) syndrome who died of pneumonia al the age of 5 months, and the pathology of the CNS in this case and the cases in literature were reviewed. Neuropathological examination revealed a partial defect of the corpus callosum, lobulation of the caudate nucleus and putamen, polymicrogyria in the parietal lobes and neuronal heterotopia in the cerebral and cerebellar white matter, The migration disorders suggest that the onset stairs in the early fetal period. (C) 1997 Elsevier Science B.V.