Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, And Developmental Delay

Ladda et al. (1993) described the cases of 2 brothers with severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. High resolution prometaphase chromosomes were normal, and molecular studies using DNA markers showed no evidence of submicroscopic deletion from the Xq12-q13 region, where the locus for hypohidrotic ectodermal dysplasia is situated. The parents and a sister were normal.