CHARGE Syndrome: An Indonesian Case Report
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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.
Conclusion: Based on clinical diagnostic criteria this case is fulfilling with definite CHARGE syndrome.
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