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Indian Journal of Surgical Nursing 3(2):p 51-56, May-Aug 2014. | DOI:
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Management of CHARGE syndrome: An Issue of Great Complexity
Thamarai Selvi P. , Thamarai Selvi P.
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Indian Journal of Surgical Nursing 3(2):p 51-56, May-Aug 2014. | DOI:
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Abstract
CHARGE syndrome was initially defined as a non-random association of anomalies. In 1981, an expert group defined the major (the classical 4 c”s: Choanal atresia, coloboma of the eye, characteristics of ears, cranial nerve anomalies) and minor criteria CHARGE syndrome. Individual with all 4 major characteristics or three major and three minor characteristics are highly like to have CHARGE syndrome. It affects approximately 1:10,000 births world wide. Recently (2004) researchers have discovered a genetic link, specifically, a strong association between the CHARGE phenotype and a mutation of the CHD7. The official name of this gene is “chromadomain helicase DNA binding protein 7” and CHD7 is the gene’s official symbol. The Children with CHARGE syndrome requires intensive medical management as well as numerous surgical interventions.[1]
Keywords: CHARGE; Choanal atresia; Coloboma.
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