Multiple atresias and a new syndrome of hereditary multiple atresias involving the gastrointestinal tract from stomach to rectum

Abstract

Ten patients with multiple intestinal atresias were seen at Ste Justine Hospital from 1962–1971. Two of the seven patients with multiple atresia were unusual, presenting a rarely reported association of atresia of the duodenum, jejunum, and ileum. In addition, we recently treated three of five children with a special type of multiple atresia who came from the same area and born to three related French-Canadian families. These five cases of hereditary atresia involved the stomach, duodenum, jejunum, colon and rectum. Genetic investigation revealed common ancestors in these three families going back to the original settlers in 1654–1663. In addition, consanguinity was present in some of the more recent generations. It is proposed that when extensive multiple atresias occur a rare autosomal recessive gene is the responsible agent for this congenital birth defect. The etiology of such multiple septal atresia is difficult to place into any present theory of pathogenesis.