{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:16:10Z","timestamp":1777695370597,"version":"3.51.4"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":5105,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe 2 unique kindreds with familial occurrence of esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) and reviewed the literature on familial EA+\/\u2010TEF. EA+\/\u2010TEF appears to be causally heterogeneous with evidence pointing to the existence of non\u2010genetic developmental and multifactorial forms. The literature suggests that the parents of a single affected child should be given an empiric recurrent risk between \u00bd and 2%, rising to 20% if more than one sib is affected. The empiric risk of an affected child born to an affected parent is 3\u20134%.<\/jats:p><jats:p>Empiric risk figures are useful in counseling families at the present time; however, the 2 kindreds presented here raise the possibility of autosomal dominant transmission in certain families. A third generation of affected offspring, or additional family reports should help to clarify this issue in the future.<\/jats:p>","DOI":"10.1002\/ajmg.1320390403","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:27:42Z","timestamp":1118496462000},"page":"380-384","source":"Crossref","is-referenced-by-count":25,"title":["Familial occurrence of esophageal atresia with and without tracheoesophagel fistula:Report of two unusual kindreds"],"prefix":"10.1002","volume":"39","author":[{"given":"Beth A.","family":"Pletcher","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan S.","family":"Friedes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. Roy","family":"Breg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J.","family":"Touloukian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130215"},{"key":"e_1_2_1_3_1","series-title":"BD:OAS","first-page":"117","volume-title":"Risk, Communication, and Decision Making in Genetic Counseling","author":"Chen H","year":"1979"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.48.12.980"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3468(70)90011-4"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(70)80015-X"},{"key":"e_1_2_1_7_1","first-page":"185","article-title":"Congenital atresia of the oesophagus in two brothers","volume":"41","author":"Grieve JG","year":"1939","journal-title":"Can Med Assoc J"},{"key":"e_1_2_1_8_1","first-page":"542","article-title":"Occurrence of tracheoesophageal fistula in three consecutive siblings","volume":"41","author":"Hausmann PF","year":"1956","journal-title":"Surgery"},{"key":"e_1_2_1_9_1","first-page":"414","volume-title":"Birth Defects Compendium","author":"Holder TM","year":"1979"},{"key":"e_1_2_1_10_1","first-page":"415","volume-title":"Birth Defects Compendium","author":"Johnson DG","year":"1979"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(83)80375-3"},{"key":"e_1_2_1_12_1","first-page":"896","article-title":"Tracheoesophageal fistula in parent and offspring:A rare occurrence","volume":"134","author":"Kiesewetter WB","year":"1980","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1977.tb07989.x"},{"key":"e_1_2_1_14_1","first-page":"329","article-title":"Oesophageal atresia in father and daughter","volume":"20","author":"Lipson AH","year":"1984","journal-title":"Austral Paediatr J"},{"key":"e_1_2_1_15_1","first-page":"301","article-title":"Malformations of the oesophagus","volume":"1","author":"MacKenzie M","year":"1880","journal-title":"Arch Laryngol"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000658-198610000-00013"},{"key":"e_1_2_1_17_1","first-page":"682","volume-title":"Pediatric Surgery","author":"Randolph JG","year":"1986"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(87)80420-7"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00389459"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00286613"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.5.338"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320390403","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320390403","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T12:01:27Z","timestamp":1698062487000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320390403"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,6,15]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1991,6,15]]}},"alternative-id":["10.1002\/ajmg.1320390403"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320390403","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,6,15]]}}}