Biliary atresia splenic malformation syndrome - Is it a result of embryonically midline rotational defects? A case report

The authors present a case of biliary atresia splenic malformation (BASM) syndrome in a 34-week gestational age boy who died shortly after birth. Autopsy results showed polysplenia, short pancreas, extrahepatic biliary atresia, heterotaxy of liver, tracheoesophageal and duodenal atresia, right lung hypoplasia, cardiac defects with tetralogy of Fallot, axial skeletal defects, and minor genitourinary disorders. Additional histopathologic findings were congenital hepatic fibrosis and bronchopulmonary dysplasia. The authors consider that the abnormalities of this case are possibly a unique combination. Midline defects, which are the most notable features of the presented case, may be closely related to pathogenesis of BASM syndrome. J Pediatr Surg 35:1377-1380. Copyright (C) 2000 by W.B. Saunders Company.