| CHARGE Syndrome: Diagnosis and Clinical Management in the NICU. | |
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MedLine Citation:
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PMID: 23187639 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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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. |
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Authors:
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Tracey Allen |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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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:
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Created Date: 2012-11-28 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101125644 Medline TA: Adv Neonatal Care Country: United States |
Other Details:
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Languages: eng Pagination: 336-42 Citation Subset: IM |
Affiliation:
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Neonatal Intensive Care Unit, Children's Hospital Colorado, Aurora. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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