1. Esophageal atresia and tracheo-esophageal fistula in a patient with digeorge syndrome
- Author
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Arif Gürpınar, Sara Sebnem Kilic, Tahsin Yakut, Hasan Doğruyol, Unal Egeli, Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Kılıç, Sara Şebnem, Gürpınar, Arif Nuri, Yakut, Tahsin, Egeli, Ünal, Doğruyol, Hasan, and AAH-1420-2021
- Subjects
Male ,TBX1 ,Pathology ,medicine.medical_specialty ,Heart defects, congenital ,Tracheoesophageal fistula ,Fatal outcome ,Pediatrics ,Article ,Infant, newborn ,Psychotic Disorders ,22Q11 Deletion Syndrome ,Chromosome Loss ,Multiple malformation syndrome ,Abnormalities, multiple ,DiGeorge syndrome ,Diagnosis ,Case report ,medicine ,Immunodeficiency ,Humans ,Transplantation ,business.industry ,22Q11.2 deletion syndrome ,Esophagus atresia ,Fatality ,General Medicine ,Anatomy ,Newborn ,medicine.disease ,Congenital heart malformation ,MLCS ,Hypoplasia ,Combined immunodeficiency ,MLOWN ,medicine.anatomical_structure ,Severe combined immunodeficiency ,Face ,Atresia ,Esophageal atresia ,Pediatrics, Perinatology and Child Health ,Congenital malformation ,Surgery ,business ,Pharyngeal arch ,Human ,Congenital disorder - 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 and 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.
- Published
- 2003
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