Martin L. Gimovsky

Beckwith-Wiedemann Syndrome: Prenatal Ultrasonic Diagnosis and Clinical Implications

The Beckwith-Wiedemann syndrome (BWS) is a complex congenital disorder with omphalocele, macroglossia, and gigantism as its most common neonatal features. However, in individual cases, the phenotypic expression of this condition is variable. Antenatal diagnosis in previously unsuspected cases depends upon the identification of a number of specific ultrasonic findings. We report a case in which the antenatal diagnosis of BWS was made, and review the previously described cases, noting the specific ultrasonic findings that suggest the correct in utero diagnosis.