{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,7]],"date-time":"2026-06-07T12:30:08Z","timestamp":1780835408189,"version":"3.54.1"},"reference-count":16,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,1,28]]},"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:p>Oesophageal atresia with or without tracheo-oesophageal fistula, ileal atresia and Hirschsprung\u2019s disease are surgical malformations of the gastrointestinal tract typically diagnosed early in the neonatal period and varying in severity and prognosis. This report describes a full-term male newborn presenting simultaneous oesophageal atresia with distal tracheo-oesophageal fistula, ileal atresia and Hirschsprung\u2019s disease. In addition to the complex types of gastrointestinal malformations involved, the combination of ileal atresia and Hirschsprung\u2019s disease, as well as ganglion cells distal to intestinal atresia, resulted in a challenging diagnosis. Despite a successful outcome, the patient presented increased morbidity and prolonged hospitalisation. We highlight some important findings that may aid the early diagnosis of Hirschsprung\u2019s disease in this clinical setting. To our knowledge, the association of oesophageal atresia\/tracheo-oesophageal fistula, ileal atresia and Hirschsprung\u2019s disease has not been previously reported.<\/jats:p>","DOI":"10.1136\/bcr-2018-226675","type":"journal-article","created":{"date-parts":[[2019,2,23]],"date-time":"2019-02-23T04:15:19Z","timestamp":1550895319000},"page":"e226675","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":7,"title":["Oesophageal atresia with tracheo-oesophageal fistula, ileal atresia and Hirschsprung\u2019s disease: outcome of a rare phenotype"],"prefix":"10.1136","volume":"12","author":[{"given":"Liliana Pimenta","family":"Santos","sequence":"first","affiliation":[{"name":"Department of Paediatric Surgery, Centro Hospitalar e Universit\u00e1rio de Coimbra EPE, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Coimbra","sequence":"additional","affiliation":[{"name":"Department of Paediatric Surgery, Centro Hospitalar e Universit\u00e1rio de Coimbra EPE, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catarina","family":"Cunha","sequence":"additional","affiliation":[{"name":"Department of Paediatric Surgery, Centro Hospitalar e Universit\u00e1rio de Coimbra EPE, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Francelina","family":"Lopes","sequence":"additional","affiliation":[{"name":"Department of Paediatric Surgery, Centro Hospitalar e Universit\u00e1rio de Coimbra EPE, Coimbra, Portugal"},{"name":"Faculty of Medicine, University of Coimbra, Coimbra, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2019,2,22]]},"reference":[{"key":"2025082723572355000_12.2.e226675.1","doi-asserted-by":"crossref","first-page":"3662","DOI":"10.3748\/wjg.v18.i28.3662","article-title":"Current knowledge on esophageal atresia","volume":"18","author":"Pinheiro","year":"2012","journal-title":"World J Gastroenterol"},{"key":"2025082723572355000_12.2.e226675.2","first-page":"240","article-title":"[Antenatal diagnosis and management of ileal atresia]","volume":"24","author":"Dhibou","year":"2016","journal-title":"Pan Afr Med J"},{"key":"2025082723572355000_12.2.e226675.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2016.03.032"},{"key":"2025082723572355000_12.2.e226675.4","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(97)90576-5"},{"key":"2025082723572355000_12.2.e226675.5","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1007\/s00383-011-2967-4","article-title":"Uncommon co-occurrence of ileal atresia and total colonic aganglionosis in two unrelated newborns","volume":"28","author":"Daher","year":"2012","journal-title":"Pediatr Surg Int"},{"key":"2025082723572355000_12.2.e226675.6","doi-asserted-by":"crossref","first-page":"2134","DOI":"10.1016\/j.jpedsurg.2012.09.040","article-title":"Gastroschisis, ileal atresia, and Hirschsprung\u2019s disease in a newborn: the first reported case","volume":"47","author":"Goslin","year":"2012","journal-title":"J Pediatr Surg"},{"key":"2025082723572355000_12.2.e226675.7","doi-asserted-by":"crossref","first-page":"e3","DOI":"10.1016\/j.epsc.2012.12.002","article-title":"Ileal atresia, malrotation and Hirschsprung\u2019s disease: a case report","volume":"1","author":"Wisbach","year":"2013","journal-title":"J Pediatr Surg Case Rep"},{"key":"2025082723572355000_12.2.e226675.8","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2014-307582"},{"key":"2025082723572355000_12.2.e226675.9","doi-asserted-by":"crossref","unstructured":"Mandell GA , Biyyam DR , Jorgensen S , et al . 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