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Prenatal Diagnosis and Perinatal Management of the Beckwith-Wiedeman Syndrome: A Case and Review
04 March 2008 (online)
In utero diagnosis of Beckwith-Wiedeman syndrome was made after sonographic identification of an omphalocele and organomegaly in a term fetus. Although not all possible criteria for diagnosis could be antenatally confirmed, the finding of an anterior wall defect associated with macrosomia and possible macroglossia made it very likely. This enabled us to counsel the patient properly and to prepare adequate neonatal support at delivery.