CHARGE Syndrome: An Indonesian Case Report


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Submitted: 23-05-2017
Published: 23-06-2017
Section: Case Reports
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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. 


CHARGE syndrome, CHD7 gene, clinical criteria

  1. Jessica Juan Pramudita 
    Magister of Genetic Counseling, Faculty of Medicine, Diponegoro University, Semarang, Indonesisa, Indonesia
  2. Agustini Utari 
    Center for Bomedical Research (CEBIOR) Faculty of Medicine, Diponegoro University, Semarang, Indonesia Department of Pediatrics, Faculty of Medicine, Diponegoro Univeristy, Semarang, Indonesia, Indonesia
  3. Tri Indah Winarni 
    Center for Bomedical Research (CEBIOR) Faculty of Medicine, Diponegoro University, Semarang, Indonesia, Indonesia
  4. Sultana MH Faradz 
    Center for Bomedical Research (CEBIOR) Faculty of Medicine, Diponegoro University, Semarang, Indonesia, Indonesia
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