CHARGE Syndrome: An Indonesian Case Report
| Main Authors: | Pramudita, Jessica Juan, Utari, Agustini, Winarni, Tri Indah, Faradz, Sultana MH |
|---|---|
| Format: | Article info application/pdf Journal |
| Bahasa: | eng |
| Terbitan: |
Faculty of Medicine, Diponegoro University
, 2017
|
| Subjects: | |
| Online Access: |
https://ejournal2.undip.ac.id/index.php/jbtr/article/view/1225 https://ejournal2.undip.ac.id/index.php/jbtr/article/view/1225/998 https://ejournal2.undip.ac.id/index.php/jbtr/article/downloadSuppFile/1225/234 https://ejournal2.undip.ac.id/index.php/jbtr/article/downloadSuppFile/1225/235 |
Daftar Isi:
- 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.