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Giant omphalocele and “prune belly” sequence as components of the Beckwith–Wiedemann syndrome
Author(s) -
Sinico Martine,
Touboul Claudine,
Haddad Bassam,
EnchaRazavi Féréchté,
Paniel JeanBernard,
Gicquel Christine,
GérardBlanluet Marion
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30129
Subject(s) - omphalocele , beckwith–wiedemann syndrome , abdominal wall , fetus , medicine , presentation (obstetrics) , anatomy , prune belly syndrome , sequence (biology) , abdominal wall defect , biology , surgery , gene , dna methylation , genetics , pregnancy , gene expression
We report a case of severe Beckwith–Wiedemann syndrome (BWS) in a fetus at 16 weeks of gestation. This presentation, incompatible with life, included a giant omphalocele and absence of abdominal wall musculature with extremely dilated bladder, as in the “prune belly” sequence. Adrenal cytomegaly pointed to BWS. Molecular analysis confirmed the diagnosis of BWS and showed an isolated demethylation of the KCNQ1OT1 gene. This report demonstrates that lethal fetal abdominal wall defects associated with adrenal cytomegaly are linked to epigenetic change of the 11p15 imprinted region. © 2004 Wiley‐Liss, Inc.