title: CHARGE syndrome: diagnosis and clinical management in the NICU.
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.
authors.affiliation: Neonatal Intensive Care Unit, Children's Hospital Colorado, Aurora, CO 80045, USA. traceyanna13@gmail.com
authors.forename: Tracey
authors.initials: T
authors.lastname: Allen
mesh_terms: D058747:CHARGE Syndrome / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D004265:DNA Helicases / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation
chemical_list: D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human