[Familial occurence of congenital short bowel (author's transl)].
We report the clinical and post-mortem findings of an infant with inborn short bowel. One sibling died because of the same malformation. The parents are cousins. This malformation is combined with malrotation, often with pylorus-stenosis too, and can cause an intestinal obstruction syndrome. All presently known cases in the pertinent literature are summarized. The occurence of familial cases suggest a rezessive autosomal disease.
D001344:Autopsy; D003241:Consanguinity; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics*; D007410:Intestinal Diseases / Q000235:genetics*; D007415:Intestinal Obstruction / Q000209:etiology; D007422:Intestines / Q000002:abnormalities* / Q000473:pathology; D011707:Pyloric Stenosis / Q000150:complications / Q000235:genetics
Familiäres Vorkommen des angeborenen Kurzdarmes.