Total intestinal aganglionosis. An autosomal recessive condition?
A case of total intestinal aganglionosis in a sib of a previously recorded patient is presented. The number of cases now reported is 9 in six families. The possibility that this condition is a distinct entity inherited in an autosomal recessive manner is discussed.
D005725:Ganglia, Autonomic / Q000002:abnormalities*; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007422:Intestines / Q000002:abnormalities*; D008297:Male; D008531:Megacolon / Q000235:genetics*; D010375:Pedigree