NEUROPATHOLOGY OF ORAL-FACIAL-DIGITAL SYNDROMES

  • 1 January 1985
    • journal article
    • research article
    • Vol. 109  (7) , 642-646
Abstract
A 3 mo. old female infant with oral-facial-digital syndrome (OFD-I) was found to have extensive malformations of the brain and spinal cord. The most common CNS malformations found in OFD-I include cerebral epithelial (ependymal) cysts, agenesis of the corpus callosum, cerebral micropolygyria, and hypoplasia or dysplasis of the cerebellum, pons, and medulla. Individuals with OFD-I syndrome should be carefully studied clinically and pathologically for complex nervous system anomalies.

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