Alagille syndrome: prenatal sonographic findings

We report a case of Alagille syndrome in which sonographic examination revealed the presence of angulation of the fetal spine due to vertebral fusion as well as tetralogy of Fallot. Histologic examination after pregnancy termination revealed the presence of agenesis of the gallbladder with a paucity of intrahepatic bile ducts, leading to the diagnosis of Alagille syndrome. In the presence of cardiac and axial skeletal anomalies, attention should be paid to the fetal gallbladder, whose absence would signal a diagnosis of Alagille syndrome.