Intracranial lipomas, hydrocephalus and other CNS anomalies in oculoauriculo-vertebral dysplasia (Goldenhar-Gorlin syndrome).
13 cases of Goldenhar-Gorlin syndrome are presented in which numerous central nervous system anomalies have been found. These include occipital encephalocele, hydrocephalus, aqueductal stenosis, agenesis of corpus callosum, multiple congenital lipomas and many others. Pertinent literature has been reviewed. It is concluded that any part of the central nervous system can be involved in this condition and that careful evaluation is indicated in order to rule out a treatable intracranial anomaly.
D000293:Adolescent; D000328:Adult; D001932:Brain Neoplasms / Q000150:complications*; D002490:Central Nervous System / Q000002:abnormalities*; D002675:Child, Preschool; D005260:Female; D006053:Goldenhar Syndrome / Q000150:complications* / Q000503:physiopathology; D006801:Humans; D006849:Hydrocephalus / Q000150:complications* / Q000503:physiopathology; D007231:Infant, Newborn; D008067:Lipoma / Q000150:complications*; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000150:complications*