Document Detail

CHARGE Syndrome: Diagnosis and Clinical Management in the NICU.
MedLine Citation:
PMID:  23187639     Owner:  NLM     Status:  In-Data-Review    
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.
Tracey Allen
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Advances in neonatal care : official journal of the National Association of Neonatal Nurses     Volume:  12     ISSN:  1536-0911     ISO Abbreviation:  Adv Neonatal Care     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-11-28     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101125644     Medline TA:  Adv Neonatal Care     Country:  United States    
Other Details:
Languages:  eng     Pagination:  336-42     Citation Subset:  IM    
Neonatal Intensive Care Unit, Children's Hospital Colorado, Aurora.
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