CHARGE syndrome
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) – o...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | Russian |
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Ltd. “The National Academy of Pediatric Science and Innovation”
2020-03-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/1067 |
| Summary: | 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. |
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| ISSN: | 1027-4065 2500-2228 |