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Unusual prenatal presentation of Beckwith–Wiedemann syndrome
Author(s) -
Mulik V.,
Wellesley D.,
Sawdy R.,
Howe D. T.
Publication year - 2004
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.913
Subject(s) - beckwith–wiedemann syndrome , medicine , presentation (obstetrics) , prenatal diagnosis , pediatrics , obstetrics , genetics , fetus , pregnancy , biology , gene expression , gene , dna methylation
When Beckwith–Wiedemann syndrome (BWS) is detected prenatally, it is usually on the basis of macroglossia, exomphalos or enlarged kidneys. We describe a case that presented as gross hepatomegaly and a suspected enlarged pancreas at 20 weeks' gestation, with none of the usual features. Copyright © 2004 John Wiley & Sons, Ltd.
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