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 language||English (US)|
|Number of pages||5|
|Journal||Archives of Pathology and Laboratory Medicine|
|State||Published - Dec 4 1985|
All Science Journal Classification (ASJC) codes
- Pathology and Forensic Medicine
- Medical Laboratory Technology