Familial congenital hypotrichosis with "uncombable hair," retinal pigmentary dystrophy, juvenile cataract and brachymetacarpia: another entity of the ectodermal dysplasia group
Bork, K.; Stender, E.; Schmidt, D.; Berzas, C.; Rochels, R.
Der Hautarzt; Zeitschrift für Dermatologie Venerologie und verwandte Gebiete 38(6): 342-347
1987
ISSN/ISBN: 0017-8470 PMID: 3654205 Document Number: 295952
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.