{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T03:05:44Z","timestamp":1792551944359,"version":"4.5.0"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,10,21]],"date-time":"2022-10-21T00:00:00Z","timestamp":1666310400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Developmental abnormalities provide a unique opportunity to seek for the molecular mechanisms underlying human organogenesis. Esophageal development remains incompletely understood and elucidating causes for esophageal atresia (EA) in humans would contribute to achieve a better comprehension. Prenatal detection, syndromic classification, molecular diagnosis, and prognostic factors in EA are challenging. Some syndromes have been described to frequently include EA, such as CHARGE, <jats:italic>EFTUD2<\/jats:italic>\u2010mandibulofacial dysostosis, Feingold syndrome, trisomy 18, and Fanconi anemia. However, no molecular diagnosis is made in most cases, including frequent associations, such as Vertebral\u2010Anal\u2010Cardiac\u2010Tracheo\u2010Esophageal\u2010Renal\u2010Limb defects (VACTERL). This study evaluates the clinical and genetic test results of 139 neonates and 9 fetuses followed\u2010up at the Necker\u2010Enfants Malades Hospital over a 10\u2010years period. Overall, 52 cases were isolated EA (35%), and 96 were associated with other anomalies (65%). The latter group is divided into three subgroups: EA with a known genomic cause (9\/148, 6%); EA with Vertebral\u2010Anal\u2010Cardiac\u2010Tracheo\u2010Esophageal\u2010Renal\u2010Limb defects (VACTERL) or VACTERL\/Oculo\u2010Auriculo\u2010Vertebral Dysplasia (VACTERL\/OAV) (22\/148, 14%); EA with associated malformations including congenital heart defects, duodenal atresia, and diaphragmatic hernia without known associations or syndromes yet described (65\/148, 44%). Altogether, the molecular diagnostic rate remains very low and may underlie frequent non\u2010Mendelian genetic models.<\/jats:p>","DOI":"10.1002\/ajmg.a.62989","type":"journal-article","created":{"date-parts":[[2022,10,22]],"date-time":"2022-10-22T04:30:44Z","timestamp":1666413044000},"page":"77-83","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2131-5744","authenticated-orcid":false,"given":"Emmanuelle","family":"Ranza","sequence":"first","affiliation":[{"name":"Service de m\u00e9decine g\u00e9nomique des maladies rares H\u00f4pital Necker\u2010Enfants Malades (AP\u2010HP centre)  Paris France"},{"name":"Service de M\u00e9decine g\u00e9n\u00e9tique H\u00f4pitaux Universitaires de Gen\u00e8ve  Gen\u00e8ve 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