Prenatal diagnosis of the Beckwith-Wiedemann syndrome.


We report on the prenatal diagnosis of Beckwith-Wiedemann syndrome (BWS) in a pregnancy monitored because of a previously affected child. The proposita had classical stigmata of BWS including macroglossia, omphalocele, and typical ear creases. Chromosomes were 46,XX. Both parents and the extended maternal family were clinically normal. In a subsequent… (More)