Beckwith-Wiedemann syndrome: antenatal diagnosis.
The Beckwith-Wiedemann syndrome is an unusual complex with variable features. The major findings include abdominal wall defects, macroglossia and visceromegaly. These features should be amenable to antenatal ultrasound detection. Only a few such cases have been reported to date. Antenatal diagnosis allows optimum perinatal care. Hypoglycaemia in the neonatal period is common in these babies and requires early detection and appropriate management to prevent long-term intellectual complications. We present a case where the diagnosis was suggested prior to delivery.
Department of Radiology, Flinders Medical Centre, Bedford Park, Australia.
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Whisson
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Whyte
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Ziesing
D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal