{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T17:40:16Z","timestamp":1696700416696},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,9,8]],"date-time":"2014-09-08T00:00:00Z","timestamp":1410134400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Bladder exstrophy is a rare malformation. Prenatal diagnosis is usually an incidental finding on routine ultrasound examination. Triple\u2010X syndrome (karyotype 47,XXX) is the most frequent sex chromosome aneuploidy in live\u2010born females (approximately 1 in 1000). The diagnosis is often not made because women with 47,XXX karyotype have no or hardly any clinical symptoms during life.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Prenatal diagnosis of triple X karyotype is usually an incidental finding when an invasive prenatal diagnosis is performed for other reasons.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Here, we report on two cases with bladder exstrophy and triple\u2010X syndrome, one in a fetus and one in an adult. In view of two previous reports of this association in literature, causality of these two conditions should be considered.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A gene dosage effect as possible underlying mechanisms will be discussed. Birth Defects Research (Part A) 100:797\u2013800, 2014. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23299","type":"journal-article","created":{"date-parts":[[2014,9,8]],"date-time":"2014-09-08T15:17:58Z","timestamp":1410189478000},"page":"797-800","source":"Crossref","is-referenced-by-count":0,"title":["Bladder exstrophy\u2013epispadias complex and triple\u2010X syndrome: Incidental finding or causality?"],"prefix":"10.1002","volume":"100","author":[{"given":"Paul","family":"Ramaekers","sequence":"first","affiliation":[{"name":"Department of Gynaecology &amp; Obstetrics Antwerp University Hospital, University of Antwerp Antwerp Belgium"},{"name":"Department of Gynaecology &amp; Obstetrics Ghent University Hospital Ghent Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bart","family":"Loeys","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Hospital Antwerp, University of Antwerp Edegem Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catharina","family":"von Lowtzow","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heiko","family":"Reutter","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Bonn Bonn Germany"},{"name":"Department of Neonatology Children's Hospital, University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Leroy","sequence":"additional","affiliation":[{"name":"Department of Gynaecology &amp; Obstetrics Antwerp University Hospital, University of Antwerp Antwerp Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9cile","family":"Colpaert","sequence":"additional","affiliation":[{"name":"Department of Pathology University Hospital Antwerp, University of Antwerp Antwerp Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bettina","family":"Blaumeiser","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Hospital Antwerp, University of Antwerp Edegem Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrien","family":"Janssens","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University Hospital Antwerp, University of Antwerp Edegem Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maxim","family":"Parizel","sequence":"additional","affiliation":[{"name":"Department of Pathology University Hospital Antwerp, University of Antwerp Antwerp Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Jacquemyn","sequence":"additional","affiliation":[{"name":"Department of Gynaecology &amp; Obstetrics Antwerp University Hospital, University of Antwerp Antwerp Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,9,8]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-4-23"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb00443.x"},{"key":"e_1_2_5_4_1","first-page":"566","volume-title":"Oxford desk reference. Clinical genetics","author":"Hurst JA","year":"2012"},{"key":"e_1_2_5_5_1","first-page":"494","volume-title":"Oxford desk reference. 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