Syndromes and disorders associated with omphalocele (I): Beckwith-Wiedemann syndrome.
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.
Chen
Chih-Ping
CP
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis* / Q000235:genetics*; D050761:Cyclin-Dependent Kinase Inhibitor p57 / Q000235:genetics; D005260:Female; D005838:Genotype; D006554:Hernia, Umbilical / Q000209:etiology*; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007335:Insulin-Like Growth Factor II / Q000235:genetics; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D051657:KCNQ1 Potassium Channel / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated / Q000235:genetics; D027724:Reproductive Techniques, Assisted / Q000009:adverse effects
C493964:CDKN1C protein, human; D050761:Cyclin-Dependent Kinase Inhibitor p57; C094335:H19 long non-coding RNA; D047908:Intracellular Signaling Peptides and Proteins; D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human; C485621:KCNQ1OT1 long non-coding RNA, human; D008565:Membrane Proteins; D009687:Nuclear Proteins; D024642:Potassium Channels, Voltage-Gated; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D007335:Insulin-Like Growth Factor II; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human