title: Beckwith-Wiedemann syndrome: difficulties with prenatal diagnosis.
abstract: Beckwith-Wiedemann syndrome (BWS), though a well-delineated clinical and morphological entity, can be difficult to diagnose by prenatal ultrasound examination when incomplete forms occur. We present a case with sonographic results including hydronephrosis, cardiomegalia, hepatomegalia, macroglossia, and prominent forehead. No abdominal wall defect was detected. Karyotype was normal. In spite of intensive prenatal diagnostics, BWS could not be diagnosed definitely until birth.
authors.affiliation: Department of Neonatology, Medical Faculty (Charité) of Humboldt University, Berlin, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Nowotny
authors.forename: R
authors.initials: R
authors.lastname: Bollmann
authors.forename: L
authors.initials: L
authors.lastname: Pfeifer
authors.forename: E
authors.initials: E
authors.lastname: Windt
mesh_terms: D000328:Adult; D000649:Amniocentesis; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis / Q000000981:diagnostic imaging*; D017218:Cordocentesis; D003456:Cryptorchidism; D003937:Diagnosis, Differential; D005260:Female; D006554:Hernia, Umbilical / Q000000981:diagnostic imaging; D006801:Humans; D006972:Hypertelorism; D007621:Karyotyping; D008260:Macroglossia; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal