{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T20:34:22Z","timestamp":1761510862201},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,7,8]],"date-time":"2004-07-08T00:00:00Z","timestamp":1089244800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,8,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a case of severe Beckwith\u2013Wiedemann 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 \u201cprune belly\u201d sequence. Adrenal cytomegaly pointed to BWS. Molecular analysis confirmed the diagnosis of BWS and showed an isolated demethylation of the <jats:italic>KCNQ1OT1<\/jats:italic> gene. This report demonstrates that lethal fetal abdominal wall defects associated with adrenal cytomegaly are linked to epigenetic change of the 11p15 imprinted region. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30129","type":"journal-article","created":{"date-parts":[[2004,7,8]],"date-time":"2004-07-08T22:02:45Z","timestamp":1089324165000},"page":"198-200","source":"Crossref","is-referenced-by-count":13,"title":["Giant omphalocele and \u201cprune belly\u201d sequence as components of the Beckwith\u2013Wiedemann syndrome"],"prefix":"10.1002","volume":"129A","author":[{"given":"Martine","family":"Sinico","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudine","family":"Touboul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bassam","family":"Haddad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F\u00e9r\u00e9cht\u00e9","family":"Encha\u2010Razavi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Bernard","family":"Paniel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Gicquel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"G\u00e9rard\u2010Blanluet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,7,8]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"188","article-title":"Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly","volume":"5","author":"Beckwith J","year":"1969","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200006)20:6<511::AID-PD849>3.0.CO;2-B"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199703)17:3<276::AID-PD52>3.0.CO;2-7"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200649"},{"key":"e_1_2_6_6_1","first-page":"802","article-title":"The cell type\u2010specific IGF2 expression during early human development correlates to the pattern of overgrowth and neoplasia in the Beckwith\u2013Wiedemann syndrome","volume":"145","author":"Hedborg F","year":"1994","journal-title":"Am J Pathol"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992288001900709"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981002)79:4<253::AID-AJMG5>3.0.CO;2-N"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10143"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200210000-00012"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03605.x"},{"key":"e_1_2_6_12_1","first-page":"223","article-title":"Complexe malformatif familial avec hernie ombilicale et macroglossie: Un syndrome nouveau?","volume":"13","author":"Wiedemann HR","year":"1964","journal-title":"J Genet Hum"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30129","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30129","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T22:48:31Z","timestamp":1696978111000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30129"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,7,8]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,8,30]]}},"alternative-id":["10.1002\/ajmg.a.30129"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30129","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,7,8]]}}}