[An unusual syndrome: colobomatous disorder of the eyeball, anal atresia, multiple congenital anomalies and presence of an extra chromosome].
D000015:Abnormalities, Multiple; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities*; D002869:Chromosome Aberrations; D003103:Coloboma; D003394:Craniofacial Dysostosis / Q000150:complications*; D004423:Ear / Q000002:abnormalities; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D014564:Urogenital Abnormalities
Un syndrome rare: atteinte colobomateuse du globe oculaire, atrésie anale, anomalies congénitales multiples et présence d'un chromosome surnuméraire.