A Case Report: Colonic Atresia in a Newborn with Presumed Rubinstein-Taybi Syndrome

Abstract

Colonic atresia is an uncommon cause of intestional obstruction. There is a scarcity of cases of colonic atresia described in the literature, and the pathogenesis of the disease remains unknown. Although the clinical presentation of patients with colonic atresia seldom varies, reported co-occurring anomalies vary widely; almost half of the cases involve other congenital defects. We report a case of colonic atresia that appears to have co-occurred with Rubinstein-Taybi syndrome, another rare congenital disease. Based on a literature search, we believe that this might be the first reported case of co-occurrence of these two rare anomalies.