AN AUTOSOMAL-DOMINANT SYNDROME OF RENAL AND ANOGENITAL MALFORMATIONS WITH SYNDACTYLY

We describe a family with autosomal dominant inheritance of anal anoma lies, renal tract abnormalities, genital malformations, and syndactyly . These clinical manifestations do not clearly fall into any previousl y described syndrome. A mother and daughter had almost identical conge nital malformations, short stature, and unusual facies. The proband wa s born with anal stenosis, a rectovaginal fistula, clitoral hypertroph y, a pelvic right kidney, and syndactyly of both feet. Her daughter ha d the same anal, clitoral, and foot anomalies, a solitary pelvic kidne y, and no fistula. This family is likely to represent autosomal domina nt inheritance of a new combination of malformations, which may overla p with the Townes-Brocks syndrome, but does not fall into a current di agnostic category.