Charge syndrome in children

M. S. Savvina,O. N. Ivanova,T. E. Burtseva, I. S. Ivanova

YAKUT MEDICAL JOURNAL(2023)

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摘要
The article presents a clinical case of CHARGE syndrome in a 4-year-old child. Literature data and a description of the clinical observation of CHARGE syndrome are given. CHARGE syndrome (Hall-Hittner syndrome; ICD-10:Q87.8) is a rare hereditary disease. The name of the syndrome is made up of the first letters of the main malformations characteristic of the disease. CHARGE: Coloboma (coloboma - a defect of the membranes of the eye), Heart disease (heart disease), choanal Atresia (hoan atresia - overgrowth of the posterior parts of the nasal cavity), growth and mental Retardation (delay in physical and mental development), Genital anomalies (anomalies of the genitourinary system).
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关键词
CHARGE syndrome,children,coloboma,hoan atresia,congenital heart disease,developmental abnormalities,clinical case.
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