The Bannayan syndrome: an autosomal dominant disorder consisting of macrocephaly, lipomas, hemangiomas, and risk for intracranial tumors.
The Bannayan syndrome is a disorder consisting of macrocephaly, alterations of linear growth, and benign mesodermal hamartomas--primarily lipomas and hemangiomas. The purpose of this report is to present a family with the Bannayan syndrome, confirming the genetic etiology of the disorder and demonstrating that affected individuals are at risk for developing intracranial neoplasms. This report brings to seven the number of cases reported in the literature.
D001932:Brain Neoplasms / Q000209:etiology; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006257:Head / Q000002:abnormalities*; D006391:Hemangioma / Q000235:genetics*; D006801:Humans; D008068:Lipomatosis / Q000235:genetics*; D008297:Male; D008577:Meningeal Neoplasms / Q000235:genetics; D008579:Meningioma / Q000235:genetics; D010375:Pedigree; D012306:Risk; D013577:Syndrome