Prenatal diagnosis of Beckwith-Wiedemann syndrome by two- and three-dimensional ultrasonography

Beckwith-Wiedemann syndrome is a genetic syndrome characterized by macroglossia, omphalocele, fetal gigantism and neonatal hypoglycemia. The authors report a case of Beckwith-Wiedemann syndrome diagnosed in a 32-year-old primigravida in whom two-dimensional ultrasonography revealed the presence of abdominal wall cyst, macroglossia and polycystic kidneys. Three-dimensional ultrasonography in rendering mode was of great importance to confirm the previous two-dimensional ultrasonography findings.

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Bibliographic Details
Main Authors: Araujo Júnior,Edward, Simioni,Christiane, Nardozza,Luciano Marcondes Machado, Moron,Antonio Fernandes
Format: Digital revista
Language:English
Published: Publicação do Colégio Brasileiro de Radiologia e Diagnóstico por Imagem 2013
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-39842013000600379
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Summary:Beckwith-Wiedemann syndrome is a genetic syndrome characterized by macroglossia, omphalocele, fetal gigantism and neonatal hypoglycemia. The authors report a case of Beckwith-Wiedemann syndrome diagnosed in a 32-year-old primigravida in whom two-dimensional ultrasonography revealed the presence of abdominal wall cyst, macroglossia and polycystic kidneys. Three-dimensional ultrasonography in rendering mode was of great importance to confirm the previous two-dimensional ultrasonography findings.