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: | , , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
Ltd. “The National Academy of Pediatric Science and Innovation”
2020-03-01
|
| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/1067 |
| _version_ | 1797875204120117248 |
|---|---|
| author | J. G. Leviashvili N. D. Savenkova O. K. Gorkina P. V. Pavlov M. L. Zaharova D. V. Breusenko |
| author_facet | J. G. Leviashvili N. D. Savenkova O. K. Gorkina P. V. Pavlov M. L. Zaharova D. V. Breusenko |
| author_sort | J. G. Leviashvili |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T01:42:51Z |
| format | Article |
| id | doaj.art-d861767f434b4cc1afa0a32ed57e709c |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:42:51Z |
| publishDate | 2020-03-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-d861767f434b4cc1afa0a32ed57e709c2023-03-13T09:12:48ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282020-03-0165111612110.21508/1027-4065-2020-65-1-116-121854CHARGE syndromeJ. G. Leviashvili0N. D. Savenkova1O. K. Gorkina2P. V. Pavlov3M. L. Zaharova4D. V. Breusenko5ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава РоссииФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава РоссииФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава РоссииФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава РоссииФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава РоссииФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава РоссииThe 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.https://www.ped-perinatology.ru/jour/article/view/1067дети, charge-синдром, колобома, нейросенсорная тугоухость, аномалии сердца, почек, ушей, костной системы, гипогонадизм |
| spellingShingle | J. G. Leviashvili N. D. Savenkova O. K. Gorkina P. V. Pavlov M. L. Zaharova D. V. Breusenko CHARGE syndrome Rossijskij Vestnik Perinatologii i Pediatrii дети, charge-синдром, колобома, нейросенсорная тугоухость, аномалии сердца, почек, ушей, костной системы, гипогонадизм |
| title | CHARGE syndrome |
| title_full | CHARGE syndrome |
| title_fullStr | CHARGE syndrome |
| title_full_unstemmed | CHARGE syndrome |
| title_short | CHARGE syndrome |
| title_sort | charge syndrome |
| topic | дети, charge-синдром, колобома, нейросенсорная тугоухость, аномалии сердца, почек, ушей, костной системы, гипогонадизм |
| url | https://www.ped-perinatology.ru/jour/article/view/1067 |
| work_keys_str_mv | AT jgleviashvili chargesyndrome AT ndsavenkova chargesyndrome AT okgorkina chargesyndrome AT pvpavlov chargesyndrome AT mlzaharova chargesyndrome AT dvbreusenko chargesyndrome |