Familial imperforate anus.
A boy, 2 years 5 months of age, was admitted for examination and was found to be mentally retarded. He had a history of low birth weight, covered anus, and perineal fistula. Investigation revealed ventricular septal defect and persistent left superior vena cava, left upper lobe atelectasis, hand and foot anomalies, agenesis or nonfunctioning right kidney and large left kidney with double pelves and double ureters, and large sigmoid colon. Family history revealed consanguineous parents and a mentally retarded elder sister who had anorectal atresia with introital fistula and perineal ectopic stenotic anus. This family demonstrates two extremes of the same syndrome, most probably inherited as an autosomal-recessive entity.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics*; D001846:Bone Development; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003241:Consanguinity; D005385:Fingers / Q000002:abnormalities; D005808:Genes, Recessive; D006130:Growth Disorders / Q000150:complications; D006343:Heart Septal Defects / Q000150:complications; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D007668:Kidney / Q000002:abnormalities; D008297:Male; D001261:Pulmonary Atelectasis / Q000150:complications / Q000151:congenital