DOI: https://doi.org/10.14710/jbtr.v3i1.1225

CHARGE Syndrome: An Indonesian Case Report

Faculty of Medicine Diponegoro University, Indonesia

Received: 23 May 2017; Published: 23 Jun 2017.
Open Access Copyright (c) 2017 Journal of Biomedicine and Translational Research

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Abstract

Background: CHARGE syndrome is an autosomal dominant congenital and rare genetic disease.The prevalence of CHARGE syndrome approximately 1:12,000 births.In the previous study, the CHD7 gene mutation is responsible in about 2/3 cases of CHARGE syndrome.  The syn­drome associations consist of C-coloboma of the eyes, H-heart disease, A-atresia of the choanae, R-retarded growth and development, G-genital hypoplasia/genitourinary anomalies and E-ear anomalies and/or hearing loss. All defects are not seen in every case and a different spectrum of associations is seen in most of the cases.

Method: Case was undergone physical examination by experience pediatricians, pedigree construction, and other diagnostic procedure (X-ray, echo­cardiography, and multi slice computer tomography (MSCT) scan).

Results: A boy aged 2 years 9 months with clinical features with match major and minor criterias of CHARGE syndrome.

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Keywords: CHARGE syndrome; CHD7 gene; clinical criteria

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Section: Case Reports
Language : EN
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  1. Issekutz, K.A., Graham, J.M., Prasad, C., Smith, I.M. et al. An epidemiological analysis of CHARGE syndrome : preliminary results from a Canadian study. Am. J. Med. Genet. 2005; 133A: 309-17
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