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Case Report

CHARGE Syndrome

Liza Bulsara* , Liza Bulsara* , Sunil Mhaske** , Bipin Rathod***

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Indian Journal of Trauma and Emergency Pediatrics 7(1):p 29-33, January - March 2015. | DOI: DOI: https://dx.doi.org/10.21088/ijtep.2348.9987.7115.6

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Abstract

The CHARGE association was first described in 1979 by Hall et al., in 17 children with multiple congenital anomalies who were ascertained by choanal atresia. In the same year, Hittner reported this syndrome in 10 children with ocular colobomas and multiple congenital anomalies, hence the syndrome is also called Hall-Hittner syndrome. Pagon et al., in 1981 first coined the acronym CHARGE association (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness) as a non-random association of anomalies occurring together more frequently than one would expect on the basis of chance. The original diagnostic criteria required the presence of four out of six of the CHARGE characteristics. Over the past 15 years the specificity of this pattern of malformations has reached the level that many clinicians now consider it to be a recognizable CHARGE syndrome.

Keywords: CHARGE Syndrome; Choanal Atresia; Coloboma. 

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DOI: DOI: https://dx.doi.org/10.21088/ijtep.2348.9987.7115.6

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