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A RARE CASE REPORT OF CHARGE SYNDROME

Journal: University Journal of Surgery and Surgical Specialities (Vol.5, No. 2)

Publication Date:

Authors : ;

Page : 53-54

Keywords : CHARGE syndrome; Coloboma; CHD7 gene mutation;

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Abstract

CHARGE syndrome is a rare association of hereditary multisystem disorder presenting with ocular coloboma,cardiac anomalies,choanal atresia,retarded growth and development,genital anomalies and ear anomalies. Here we present a case report of CHARGE syndrome in a 2 days old baby.

Last modified: 2019-03-19 16:02:37