Syndromes and disorders associated with omphalocele (I): Beckwith-Wiedemann syndrome.

Chih-Ping Chen

Journal: Taiwanese journal of obstetrics & gynecology 2007;46(2):96-102

PMID: 17638616

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Abstract

Beckwith-Wiedemann syndrome (BWS, OMIM 130650) is characterized by macrosomia, macroglossia, visceromegaly, hemihypertrophy, abdominal wall defects, ear creases/pits, neonatal hypoglycemia, polyhydramnios, placentomegaly, placental mesenchymal dysplasia, cardiac defects, nevus flammeus, hemangiomata, and an increased frequency of embryonal tumors. This article provides an overview of BWS including the genetics, genetic diagnosis, genotype/epigenotype-phenotype correlations, association with assisted reproductive technology, and prenatal diagnosis. Omphalocele is an important sonographic marker for BWS. Prenatal detection of omphalocele, fetal overgrowth, polyhydramnios, increased abdominal circumference, placentomegaly and/or placental mesenchymal dysplasia should alert one to the possibility of BWS and prompt a genetic investigation and counseling for BWS.

Address: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. [email protected]

DOI: 10.1016/S1028-4559(07)60002-3

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MeSH Terms: Beckwith-Wiedemann Syndrome, Cyclin-Dependent Kinase Inhibitor p57, Female, Genotype, Hernia, Umbilical, Histone Methyltransferases, Histone-Lysine N-Methyltransferase, Humans, Insulin-Like Growth Factor II, Intracellular Signaling Peptides and Proteins, KCNQ1 Potassium Channel, Membrane Proteins, Nuclear Proteins, Potassium Channels, Voltage-Gated, Pregnancy, Prenatal Diagnosis, RNA, Long Noncoding, RNA, Untranslated, Reproductive Techniques, Assisted