The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition.
We report the cases of two sibs with the megacystis-microcolon-intestinal hypoperistalsis syndrome. The parents are first cousins. These cases further support the view that this syndrome is inherited in an autosomal recessive fashion.
Penman
D G
DG
Department of Obstetrics and Gynaecology, St James's University Hospital, Leeds.
Lilford
R J
RJ
D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003106:Colon / Q000002:abnormalities*; D005260:Female; D005769:Gastrointestinal Motility; D005808:Genes, Recessive; D006801:Humans; D006869:Hydronephrosis / Q000235:genetics; D007231:Infant, Newborn; D011247:Pregnancy; D011296:Prenatal Diagnosis; D001743:Urinary Bladder / Q000002:abnormalities*