UNCOMBABLE HAIR, RETINAL PIGMENTARY DYSTROPHY, DENTAL ANOMALIES, AND BRACHYDACTYLY - REPORT OF A NEW PATIENT WITH ADDITIONAL FINDINGS

A new ectodermal dysplasia syndrome was reported by Bork et al. in 198 7 (Hautarzt 38:342-347). The syndrome consisted of hypotrichosis with the typical SEM (scanning electron microscopy) changes of uncombable h air, retinal pigmentary dystrophy, juvenile cataract, oligodontia, bra chydactyly with brachymetacarpia; it was inherited as an autosomal dom inant trait. We describe a sporadic case and add further clinical find ings to expand the spectrum of this rare syndrome. (C) 1993 Wiley-Liss , Inc.