Esophageal atresia and tracheo-esophageal fistula in a patient with Digeorge syndrome.

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.

journal_name

J Pediatr Surg

authors

Kilic SS,Gurpinar A,Yakut T,Egeli U,Dogruyol H

doi

10.1016/s0022-3468(03)00295-1

subject

Has Abstract

pub_date

2003-08-01 00:00:00

pages

E21-3

issue

8

eissn

0022-3468

issn

1531-5037

pii

S0022346803002951

journal_volume

38

pub_type

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