Abstract
Three of four siblings born to nonconsanguineous unaffected parents had various manifestations of a multiple malformation syndrome. All three had hypohidrotic ectodermal dysplasia and partial anodontia. A 20 year old white woman had cleft lip and palate, ectrodactyly and syndactyly of the hands and mild to moderate conductive hearing loss. A 13 year old boy had cleft lip and palate, syndactyly, moderate hearing loss and an ilial bladder. He had had a hydrocele and urethral obstruction. A 12 year old girl had absence of the labia minora. Absence of the right kidney and ureterovesical obstruction on the left were detected roentgenographically. The obstruction was corrected surgically. The disorder in this family is similar to that described previously by Rosselli and Gulienetti and by Bowen and Armstrong. It would appear to be of autosomal recessive inheritance.
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