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3/2017
vol. 92 abstract:
Case report
Congenital atresia of the larynx and esophagus in a girl with 22q11.2 deletion- case
Paulina Komasinska
,
Aleksandra Szczawińska-Popłonyk
,
Katarzyna Jończyk-Potoczna
,
Anna Bręborowicz
PEDIATRIA POLSKA 92 (2017) 335-341
Online publish date: 2018/03/07
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DiGeorge Syndrome (DGS) is the result of microdeletion in the 22q11.2 region, with broad spectrum of clinical manifestations, but the most characteristic features are congenital heart disease, thymic, parathyroid hypoplasia or aplasia, which may cause T-cell immune deficiency and hypocalcemia. We report on the case of 3.5-year-old girl with DGS, esophageal and laryngeal atresia because of the rarity of this combination and for the purpose to underline the role of early endoscopic examination of airways, especially before surgery in this group of patients.
keywords:
DiGeorge syndrome, Esophagus atresia, Structural airway anomalies, Immune deficiency, Atelectasis |
POLSKI
