CONGENITAL CONTRACTURES, ECTODERMAL DYSPLASIA, CLEFT-LIP PALATE, AND DEVELOPMENTAL IMPAIRMENT - A DISTINCT SYNDROME

Brothers were affected with severe congenital-contractures, multiple c utaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. High resolution prometaphase chrom osomes were normal. Molecular studies of DNA markers, closely flanking the X-linked hypohidrotic ectodermal dysplasia locus, did not show ev idence of a submicroscopic deletion from the Xq12-q13 region. The pare nts and a normal sister exhibited none of these findings. This constel lation of anomalies appears to represent a unique AR or XLR syndrome. (C) 1993 Wiley-Liss, Inc.