CHARGE Syndrome
- 1 December 2012
- journal article
- beyond the-basics
- Published by Ovid Technologies (Wolters Kluwer Health) in Advances in Neonatal Care
- Vol. 12 (6), 336-342
- https://doi.org/10.1097/anc.0b013e318276c320
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.Keywords
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