Esophageal atresia and tracheo-esophageal fistula in a patient with DiGeorge syndrome
dc.contributor.buuauthor | Kılıç, Sara Şebnem | |
dc.contributor.buuauthor | Gürpınar, Arif Nuri | |
dc.contributor.buuauthor | Yakut, Tahsin | |
dc.contributor.buuauthor | Egeli, Ünal | |
dc.contributor.buuauthor | Doğruyol, Hasan | |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı. | tr_TR |
dc.contributor.orcid | 0000-0001-7904-883X | tr_TR |
dc.contributor.orcid | 0000-0001-8571-2581 | tr_TR |
dc.contributor.researcherid | AAH-1420-2021 | tr_TR |
dc.contributor.scopusid | 34975059200 | tr_TR |
dc.contributor.scopusid | 7004350616 | tr_TR |
dc.contributor.scopusid | 6602802424 | tr_TR |
dc.contributor.scopusid | 55665145000 | tr_TR |
dc.contributor.scopusid | 56624750400 | tr_TR |
dc.date.accessioned | 2022-04-21T06:13:06Z | |
dc.date.available | 2022-04-21T06:13:06Z | |
dc.date.issued | 2003-08 | |
dc.description.abstract | DiGeorge Syndrome (DGS) is a congenital disorder that affects the thymus, parathyroid glands, and heart and brain. Thymus involvement in DGS may vary between absence/hypoplasia of thymus to various forms of reduced T cell function. TBX1 deficiency causes a number of distinct vascular and heart defects, suggesting multiple roles in cardiovascular development, specifically, formation an growth of the pharyngeal arch arteries, growth and septation of the outflow tract of the heart, interventricular septation, and conal alignment. Here the authors describe a case of DGS presenting with severe combined immunodeficiency, esophageal atresia, and tracheoesophageal fistula (TEF). DGS is an important differential diagnosis in TEF. | en_US |
dc.identifier.citation | Kılıç, S. Ş. vd. (2003). “Esophageal atresia and tracheo-esophageal fistula in a patient with DiGeorge syndrome”. Journal of Pediatric Surgery, 38(8), E21-E23. | en_US |
dc.identifier.endpage | E23 | tr_TR |
dc.identifier.issn | 0022-3468 | |
dc.identifier.issue | 8 | tr_TR |
dc.identifier.scopus | 2-s2.0-0142248856 | tr_TR |
dc.identifier.startpage | E21 | tr_TR |
dc.identifier.uri | https://doi.org/10.1016/S0022-3468(03)00295-1 | |
dc.identifier.uri | https://www.sciencedirect.com/science/article/pii/S0022346803002951 | |
dc.identifier.uri | http://hdl.handle.net/11452/25919 | |
dc.identifier.volume | 38 | tr_TR |
dc.identifier.wos | 000184649400041 | tr_TR |
dc.indexed.scopus | Scopus | en_US |
dc.indexed.wos | SCIE | en_US |
dc.language.iso | en | en_US |
dc.publisher | W B Saunders Co-Elsevier | en_US |
dc.relation.journal | Journal of Pediatric Surgery | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | tr_TR |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Pediatrics | en_US |
dc.subject | Surgery | en_US |
dc.subject | DiGeorge syndrome | en_US |
dc.subject | Esophageal atresia | en_US |
dc.subject | Immunodeficiency | en_US |
dc.subject | Tracheoesophageal fistula | en_US |
dc.subject | 22Q11.2 deletion syndrome | en_US |
dc.subject | Transplantation | en_US |
dc.subject | Diagnosis | en_US |
dc.subject | TBX1 | en_US |
dc.subject | MLCS | en_US |
dc.subject | MLOWN | en_US |
dc.subject.emtree | Article | en_US |
dc.subject.emtree | Case report | en_US |
dc.subject.emtree | Combined immunodeficiency | en_US |
dc.subject.emtree | Congenital heart malformation | en_US |
dc.subject.emtree | Congenital malformation | en_US |
dc.subject.emtree | DiGeorge syndrome | en_US |
dc.subject.emtree | Esophagus atresia | en_US |
dc.subject.emtree | Face | en_US |
dc.subject.emtree | Fatality | en_US |
dc.subject.emtree | Human | en_US |
dc.subject.emtree | Male | en_US |
dc.subject.emtree | Multiple malformation syndrome | en_US |
dc.subject.emtree | Newborn | en_US |
dc.subject.emtree | Tracheoesophageal fistula | en_US |
dc.subject.mesh | Abnormalities, multiple | en_US |
dc.subject.mesh | DiGeorge syndrome | en_US |
dc.subject.mesh | Esophageal atresia | en_US |
dc.subject.mesh | Face | en_US |
dc.subject.mesh | Fatal outcome | en_US |
dc.subject.mesh | Heart defects, congenital | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Infant, newborn | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Severe combined immunodeficiency | en_US |
dc.subject.mesh | Tracheoesophageal fistula | en_US |
dc.subject.scopus | Psychotic Disorders; 22Q11 Deletion Syndrome; Chromosome Loss | en_US |
dc.subject.wos | Pediatrics | en_US |
dc.subject.wos | Surgery | en_US |
dc.title | Esophageal atresia and tracheo-esophageal fistula in a patient with DiGeorge syndrome | en_US |
dc.type | Article | |
dc.wos.quartile | Q2 | en_US |
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