Display Settings:


Send to:

Choose Destination
See comment in PubMed Commons below
Brain Dev. 1997 Jan;19(1):58-62.

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

Author information

  • 1Department of Biochemistry, Kyorin University School of Medicine, Tokyo, Japan.


An autopsy case is described of an infant with cerebro-oculo-facio-skeletal (COFS) (Pena-Shokeir II) syndrome who died of pneumonia at 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 starts in the early fetal period.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk