title: Familial communicating hydrocephalus, posterior cerebellar agenesis, mega cisterna magna, and port-wine nevi. Report on five members of one family.
abstract: This report deals with a family in which the maternal grandmother, the mother, and all three male children have port-wine nevi and mega cisterna magna. Two of the three male children have, in addition, congenital communicating hydrocephalus associated with agenesis of the posterior cerebellar vermis. This case of familial communicating hydrocephalus, posterior cerebellar vermis agenesis, port-wine nevus, and mega cisterna magna represents a new neurocutaneous syndrome, possibly transmitted as an autosomal dominant.
mesh_terms: D000328:Adult; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D002946:Cisterna Magna / Q000000981:diagnostic imaging; D005260:Female; D006391:Hemangioma / Q000151:congenital / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000151:congenital / Q000235:genetics* / Q000601:surgery; D007223:Infant; D008297:Male; D012878:Skin Neoplasms / Q000151:congenital / Q000235:genetics*; D013577:Syndrome; D014057:Tomography, X-Ray Computed