Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance.
We report two female sibs with the megacystis-microcolon-intestinal hypoperistalsis syndrome. The parents are first cousins. These cases, together with three other published reports of affected sibs, confirm the autosomal recessive inheritance of the syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D003106:Colon / Q000002:abnormalities; D003241:Consanguinity; D005260:Female; D005769:Gastrointestinal Motility; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D001743:Urinary Bladder / Q000002:abnormalities