Oral-facial-digital syndrome with vaginal atresia, hydronephrosis and congenital cardiac defect.

Abstract

Orofaciodigital syndromes (OFDS) are a group of diseases classified according to the phenotype and the mode of inheritance. We report on a female patient with ocular hypertelorism, broad nasal root, midline cleft of the upper lip, lobulated tongue, polydactyly of both hands, polysyndactyly of the right big toe and fifth toe, and polydactyly of the left foot. These clinical manifestations resembled OFDS type I. Other associated features included congenital heart defect, bilateral hydronephrosis, and vaginal atresia. To our knowledge, this is the first reported case of OFDS with vaginal atresia.