{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T13:38:23Z","timestamp":1770903503423,"version":"3.50.1"},"reference-count":53,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4587,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, omphalocele (OM) and gastroschisis (GA) are considered causally and pathogenetically distinct abdominal wall defects. More than 50% of infants with OM have additional defects, but only about 15% of those with GA do. To evaluate whether there is heterogeneity between isolated and multiply affected cases of OM and GA, we analyzed epidemiologic characteristics and familial risks of major defects for 82 OM and 81 GA cases drawn from a population\u2010based study in the Maryland\u2010Washington, DC\u2010Northern Virginia area and born from 1980 through June 1987. We examined year of birth, sex, race, and maternal age distributions after stratifying the infants into isolated and multiple defect groups. We found significant differences in maternal age between cases with isolated OM and GA, but not between cases with GA or OM who had other defects. Using regressive logistic models, we analyzed familial aggregation of birth defects among relatives of infants with OM and GA. An autosomal recessive model of inheritance was found to be the most parsimonious explanation for the families of infants with isolated OM or GA. However, for families of infants with multiple defects, a sporadic or nongenetic model fit best. These findings are not only useful for estimating familial risk of major birth defects, but they also suggest further heterogeneity of infants with OM and GA according to the presence of other malformations. \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320440528","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:29:22Z","timestamp":1118507362000},"page":"668-675","source":"Crossref","is-referenced-by-count":57,"title":["Genetic\u2010epidemiologic study of omphalocele and gastroschisis: Evidence for heterogeneity"],"prefix":"10.1002","volume":"44","author":[{"given":"Ping","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terri H.","family":"Beaty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muin J.","family":"Khoury","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elsbeth","family":"Chee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Walter","family":"Stewart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leon","family":"Gordis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1109\/TAC.1974.1100705"},{"key":"e_1_2_1_3_1","first-page":"60","volume-title":"Statistical Methods in Medical Research","author":"Armitage P","year":"1988"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.147.5.1047"},{"key":"e_1_2_1_5_1","first-page":"470","article-title":"An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births","volume":"33","author":"Baird PA","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.62.6.576"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.1370030706"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.2307\/2531211"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.39.4.445"},{"key":"e_1_2_1_10_1","series-title":"Lyon Scientific Publication No. 82","first-page":"131","volume-title":"Statistical method in cancer research Vol. II: The design and analysis of cohort studies. 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