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The cases were grouped into Bochdalek types (N = 156), other types (N = 26), unclassified types (N = 55), and multiple congenital anomalies (MCA) cases including those with congenital diaphragmatic defects (N = 96). The sib occurrence in the Bochdalek type was 0.9% (taking into consideration also the unclassified cases or the total material, it was 0.5% or 0.4%, respectively). Specific familial clusters were not found in other types. Neural tube defects were detected in 1.8% of sibs in the total material and 2.4% in MCA cases.<\/jats:p>","DOI":"10.1002\/ajmg.1320210115","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:47:57Z","timestamp":1118537277000},"page":"105-115","source":"Crossref","is-referenced-by-count":44,"title":["A family study of congenital diaphragmatic defects"],"prefix":"10.1002","volume":"21","author":[{"given":"Andrew","family":"Czeizel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1rta","family":"Kov\u00e1cs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(62)92877-5"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1964.tb07230.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(62)92878-7"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320100105"},{"key":"e_1_2_1_6_1","unstructured":"CzeizelA Kov\u00e1csM(1984) Epidemiological study on congenital diaphragmatic defects.Acta Paediatr Acad Sci Hung(in press)."},{"key":"e_1_2_1_7_1","first-page":"299","article-title":"Birth prevalence of five congenital abnormalities of medium frequency in Budapest","volume":"22","author":"Czeizel A","year":"1981","journal-title":"Acta Paediatr Acad Sci Hung"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.4.253"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.157"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1542\/peds.40.3.329","article-title":"Congenital diaphragmatic hernia and hypoplastic left heart","volume":"40","author":"Firestone FN","year":"1967","journal-title":"Pediatrics"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(82)91104-7"},{"key":"e_1_2_1_12_1","first-page":"707","article-title":"Congenital defects in diaphragm","volume":"16","author":"Liebow AA","year":"1940","journal-title":"Am J Pathol"},{"key":"e_1_2_1_13_1","volume-title":"Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X\u2010linked Phenotypes","author":"McKusick VA","year":"1983"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170210"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80337-5"},{"key":"e_1_2_1_16_1","first-page":"226","article-title":"Unilateral agenesis of the diaphragm","volume":"5","author":"Passarge E","year":"1968","journal-title":"Humangenetik"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.1966.tb05134.x"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00279041"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320210115","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320210115","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T18:03:50Z","timestamp":1697825030000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320210115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,5]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1985,5]]}},"alternative-id":["10.1002\/ajmg.1320210115"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320210115","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,5]]}}}