CHARGE syndrome

Rossijskij Vestnik Perinatologii i Pediatrii

J. G. Leviashvili¹  M. L. Zaharova¹  P. V. Pavlov¹  O. K. Gorkina¹  N. D. Savenkova¹  D. V. Breusenko¹ 

[1] St. Petersburg State Pediatric Medical University;

关键词: children, charge syndrome, coloboma, sensorineural hearing loss, abnormalities of the heart, kidneys, ears, skeletal system, hypogonadism;   

DOI  :  10.21508/1027-4065-2020-65-1-116-121

来源: DOAJ

【 摘 要 】

The article provides literature data and description of the clinical case of CHARGE syndrome with an autosomal – dominant type of inheritance in a child of 3 years and 7 months. The name of the syndrome is formed by the first letters of the characteristic congenital malformations: “C” (coloboma) – optic disc coloboma, “H” (heart defects) – cardiovascular abnormalities, “A” (atresia of choanae) – atresia or stenosis of choan, “R” (retardation of growth and development) – growth deficit, developmental delay, “G” (genital anomalies) – genital anomalies, “E” (ear abnormalities and sensorineural hearing loss) – hearing organ abnormalities. A feature of the clinical case is the early diagnosis of CHARGE syndrome, manifested by bilateral optic disc coloboma; unilateral paresis of the facial nerve; congenital heart disease (open aortic duct); retardation of growth, psychomotor and psycho-speech development; cryptorchidism; bilateral anomaly of the outer ear (short, wide, absence of the lobe and external curl), sensorineural hearing loss; bilateral renal hypopalasia, chronic kidney disease.

【 授权许可】

Unknown