Neuropathology of oral-facial-digital syndromes

J. Towfighi, C. M. Berlin, R. L. Ladda, E. E. Frauenhoffer, R. A. Lehman

Research output: Contribution to journalArticlepeer-review

33 Scopus citations


A 3-month-old female infant with oral-facial-digital syndrome (OFD-I) was found to have extensive malformations of the brain and spinal cord. Our review of other case reports indicated that the most common central nervous sytem malformations found in OFD-I include cerebral epithelial (ependymal) cysts, agenesis of the corpus callosum, cerebral micropolygyria, and hypoplasia or dysplasia of the cerebellum, pons, and medulla. It is suggested that the individuals with OFD-I syndrome should be carefully studied clinically and pathologically for complex nervous system anomalies.

Original languageEnglish (US)
Pages (from-to)642-646
Number of pages5
JournalArchives of Pathology and Laboratory Medicine
Issue number7
StatePublished - Dec 4 1985

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology


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