Multiple gastrointestinal atresias, with intraluminal calcifications and cystic dilatation of bile ducts: a newly recognized entity resemblin "a string of pearls".
The siblings reported here represent a new and complex congential anomaly. A genetic basis is strongly suggested. The natural preparation of closed loop duodenal obstruction and cystic dilatation of the bile ducts is a unique finding. The hallmark of this new entity--intraluminal calcifications strung out through small and large intestine like pearls--is a striking radiographic feature and, in the proper clinical setting, pathognomonic. This entity has been uniformly lethal. Once the diagnosis is confirmed, no known therapy is useful.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001659:Biliary Tract / Q000002:abnormalities*; D002114:Calcinosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D011859:Radiography; D013270:Stomach / Q000002:abnormalities*