Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia

Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia

The case presented highlights a unique presentation of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome along with athymia and heterotaxy to establish a possible association between these 2 well-known patterns of multiple malfor...

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Bibliographic Details
Main Authors: Rica Patil, DO, Jacquelyn Hunter, MD, Alan Knutsen, MD, Stephen R. Braddock, MD
Format: Article
Language:English
Published: Elsevier 2025-05-01
Series:Journal of Allergy and Clinical Immunology: Global
Subjects:
CHARGE
coexistence of coloboma
heart defects
atresia choanae
growth retardation
genital abnormalities
Online Access:http://www.sciencedirect.com/science/article/pii/S2772829325000177
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Summary:The case presented highlights a unique presentation of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome along with athymia and heterotaxy to establish a possible association between these 2 well-known patterns of multiple malformations.
ISSN:2772-8293

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