Congenital bilateral absence of the fifth ray and vaginal atresia.
We have studied an infant with respiratory distress, absent fifth rays of the hands, and hydrometrocolpos. Congenital absence of the fifth ray of the hand is a rare malformation. In some syndromes the ulnar defects are symmetrical; however, as an isolated anomaly the defects are usually asymmetric. This patient's malformations appear to be unique in that the ulnar ray was affected bilaterally, with an associated genital malformation.
D000015:Abnormalities, Multiple / Q000473:pathology*; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D007231:Infant, Newborn; D008663:Metacarpus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities*