Prenatal diagnosis of Wiedemann-Beckwith syndrome

We report the prenatal diagnosis of Wiedemann-Beckwith syndrome in the 28th week of pregnancy in a primigravida. The cause of hospitalization was severe polyhydramnios with premature labour. Sonography revealed macrosomia, nephromegaly, cysts of adrenal glands and a striking macroglossia with opened mouth in all controls. The combination of all these symptoms suggested the prenatal diagnosis of Wiedemann-Beckwith syndrome, which could be confirmed post partum after a normal delivery in the 33rd week of pregnancy. The newborn (2700 g, 48 cm) exhibited typical features of this syndrome as moderate hypoglycemia and polycythemia in addition to the sonographic finding. Pathogenetic aspects and differential diagnosis of macrosomia are discussed.