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We retrospectively reviewed the EA\/TEF cases evaluated at Rady Children's Hospital San Diego (San Diego, CA) between 2007 and 2016. Data were collected for 157 patients. The majority of patients (105, 66.8%) had an associated major malformation present, and 52 patients (33.1%) had isolated EA\/TEF. The patients with associated malformations were distributed as follows: 16 patients (10.2%) had a known genetic syndrome (the most common being Trisomy 21 in 11 patients); six patients (3.8%) had a suspected genetic syndrome; one patient had a suspected teratogenic syndrome (diabetic embryopathy); 30 patients had VACTERL association (19.1%); 32 patients had a \u201cpartial VACTERL\u201d association (only two VACTERL\u2010type defects without other malformation); nine patients (5.7%) had one additional non\u2010VACTERL\u2010type birth defect, two patients had VACTERL\u2010type defects plus auricular malformations; and nine patients (5.7%) were classified as \u201cunknown syndrome.\u201d A classification of the patterns of malformation of patients with congenital EA\/TEF is proposed based on reviewing the data of this relatively large and phenotypically diverse patient group.<\/jats:p>","DOI":"10.1002\/ajmg.a.61582","type":"journal-article","created":{"date-parts":[[2020,4,6]],"date-time":"2020-04-06T13:30:01Z","timestamp":1586179801000},"page":"1351-1363","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Patterns of malformation associated with esophageal atresia\/tracheoesophageal fistula: A retrospective single center study"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9702-6108","authenticated-orcid":false,"given":"Carolina I.","family":"Galarreta","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Dysmorphology UC San Diego\/Rady Children's Hospital  San Diego California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florin","family":"Vaida","sequence":"additional","affiliation":[{"name":"Department of Family Medicine and Public Health UC San Diego  San Diego California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lynne M.","family":"Bird","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Dysmorphology UC San Diego\/Rady Children's Hospital  San Diego California"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,6]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2011.09.003"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2004.03.048"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000449241"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-012-3100-z"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000477429"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1597946"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970711)71:1<8::AID-AJMG2>3.0.CO;2-V"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.295"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.05.009"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20432"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.64.3.364"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23205"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33859"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2018.00401"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11894-010-0108-1"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20437"},{"issue":"5","key":"e_1_2_8_19_1","first-page":"502","article-title":"Analysis of morbidity and mortality in 227 cases of esophageal atresia and\/or tracheoesophageal fistula over two decades","volume":"130","author":"Engum S. 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