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Advances in Neonatal Care:
doi: 10.1097/ANC.0b013e318276c320
Beyond the Basics

CHARGE Syndrome: Diagnosis and Clinical Management in the NICU

Allen, Tracey BSN, RNC

Section Editor(s): Zukowsky, Ksenia

Continued Education
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Abstract

CHARGE syndrome is a condition that has historically been diagnosed on the basis of the clinical findings of coloboma, heart disease, choanal atresia, restricted growth, and/or central nervous system anomalies, genital hypoplasia, and ear anomalies and/or deafness. Recently, researchers have discovered a genetic link, specifically, a strong association between the CHARGE phenotype and a mutation of the CHD 7 gene on the long arm of chromosome 8. Diagnosis now can be confirmed but not excluded with a positive mutation of this gene. This article offers an explanation of the diagnostic process as well as a description of the physical assessment and corresponding clinical implications of CHARGE syndrome in the neonatal population.

© 2012 National Association of Neonatal Nurses

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