{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T19:54:16Z","timestamp":1789847656005,"version":"4.0.1"},"reference-count":25,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2008,4,3]],"date-time":"2008-04-03T00:00:00Z","timestamp":1207180800000},"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":[[2008,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The etiology of gastroschisis and omphalocele is unclear and their pathogenesis is controversial. Because previous reports have inconsistently noted the type and frequency of malformations associated with omphalocele and gastroschisis, we assessed these associated malformations ascertained between 1979 and 2003 in 334,262 consecutive births. Of the 86 patients with omphalocele, 64 (74.4%) had associated malformations. These included patients with chromosomal abnormalities (25, 29.0%); non\u2010chromosomal syndromes including Beckwith\u2013Wiedemann syndrome, Goltz syndrome, Marshall\u2013Smith syndrome, Meckel\u2013Gruber syndrome, Oto\u2010palato\u2010digital type II syndrome, CHARGE syndrome, and fetal valproate syndrome; malformation sequences, including ectopia cordis, body stalk anomaly, exstrophy of bladder, exstrophy of cloaca, and OEIS (Omphalocele, Exstrophy of bladder, Imperforate anus, Spinal defect); malformation complexes including Pentalogy of Cantrell, and non\u2010syndromic multiple congenital anomalies (MCA) (26, 30.2%). Malformations of the musculoskeletal system (31, 23.5%), urogenital system (27, 20.4%), cardiovascular system (20, 15.1%), and central nervous system (12, 9.1%) were the most common other congenital malformations in patients with omphalocele and non\u2010syndromic MCA. Of the 60 patients with gastroschisis, 10 (16.6%) had associated malformations. In contrast to omphalocele, gastroschisis was rarely associated with a complex pattern of malformation, that is, one each (1.7%) with a chromosomal abnormality (trisomy 21), sequence (amyoplasia congenita), unspecified dwarfism, and 7 (11.7%) with MCA. We observed a striking difference in the prevalence of total malformations (74.4% vs. 16.6%, <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001) and specific patterns of malformations associated with omphalocele and gastroschisis which emphasizes the need to evaluate all patients with omphalocele and gastroschisis for possible associated malformations. Malformation surveillance programs should be aware that the malformations associated with omphalocele can be often classified into a recognizable malformation syndrome or pattern (44.2%). \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32297","type":"journal-article","created":{"date-parts":[[2008,4,3]],"date-time":"2008-04-03T20:46:34Z","timestamp":1207255594000},"page":"1280-1285","source":"Crossref","is-referenced-by-count":135,"title":["Omphalocele and gastroschisis and associated malformations"],"prefix":"10.1002","volume":"146A","author":[{"given":"Claude","family":"Stoll","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Alembik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatrice","family":"Dott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Paule","family":"Roth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,4,3]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jp.7211616"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-2115(99)00078-0"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0960-7692.2001.00534.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/fn.78.3.F209"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420470109"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580218"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-994356"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-9260(05)83107-1"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(96)90491-1"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199605)16:5<411::AID-PD869>3.0.CO;2-W"},{"key":"e_1_2_5_12_1","first-page":"924","volume-title":"Smith's recognizable patterns of human malformations","author":"Jones KL","year":"2006"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-3016.2007.00820.x"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31607"},{"key":"e_1_2_5_15_1","first-page":"112","article-title":"Gastroschisis; report of two cases treated by a modification of the gross operation for omphalocele","volume":"33","author":"Moore TC","year":"1953","journal-title":"Surgery"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1520-6661(199707\/08)6:4<225::AID-MFM8>3.0.CO;2-L"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000263657"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.1998.tb10095.x"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199907)19:7<662::AID-PD607>3.0.CO;2-C"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.10012"},{"key":"e_1_2_5_21_1","first-page":"157","volume-title":"Prevention of physical and mental congenital defects. 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