2022-04-212022-04-212003-08Kılıç, S. Ş. vd. (2003). “Esophageal atresia and tracheo-esophageal fistula in a patient with DiGeorge syndrome”. Journal of Pediatric Surgery, 38(8), E21-E23.0022-3468https://doi.org/10.1016/S0022-3468(03)00295-1https://www.sciencedirect.com/science/article/pii/S0022346803002951http://hdl.handle.net/11452/25919DiGeorge 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.eninfo:eu-repo/semantics/closedAccessPediatricsSurgeryDiGeorge syndromeEsophageal atresiaImmunodeficiencyTracheoesophageal fistula22Q11.2 deletion syndromeTransplantationDiagnosisTBX1MLCSMLOWNAbnormalities, multipleDiGeorge syndromeEsophageal atresiaFaceFatal outcomeHeart defects, congenitalHumansInfant, newbornMaleSevere combined immunodeficiencyTracheoesophageal fistulaArticle0001846494000412-s2.0-0142248856E21E23388PediatricsSurgeryPsychotic Disorders; 22Q11 Deletion Syndrome; Chromosome LossArticleCase reportCombined immunodeficiencyCongenital heart malformationCongenital malformationDiGeorge syndromeEsophagus atresiaFaceFatalityHumanMaleMultiple malformation syndromeNewbornTracheoesophageal fistula