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Title: [Familial congenital hypotrichosis with "uncombable hair," retinal pigmentary dystrophy, juvenile cataract and brachymetacarpia: another entity of the ectodermal dysplasia group]. Author: Bork K, Stender E, Schmidt D, Berzas C, Rochels R. Journal: Hautarzt; 1987 Jun; 38(6):342-7. PubMed ID: 3654205. Abstract: A new ectodermal dysplasia syndrome is reported in a family of Caucasian ancestry. The syndrome consists of congenital hypotrichosis with "uncombable hair", juvenile cataract, retinal pigmentary dystrophy, oligodontia and brachymetacarpia, and is inherited as an autosomal dominant trait.[Abstract] [Full Text] [Related] [New Search]