perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2020-65-1-116-121perinatology-1067Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESCHARGE-синдромCHARGE syndromehttps://orcid.org/0000-0002-5881-0124ЛевиашвилиЖ. Г.LeviashviliJ. G.

Левиашвили Жанна Гавриловна – д.м.н., проф. кафедры факультетской педиатрии  

194100 Санкт-Петербург, ул. Литовская, д. 2

St. Petersburg

jannalevi@Gmail.comhttps://orcid.org/0000-0002-9415-4785СавенковаН. Д.SavenkovaN. D.

Савенкова Надежда Дмитриевна – д.м.н. проф., зав. кафедрой факультетской педиатрии 

194100 Санкт-Петербург, ул. Литовская, д. 2

St. Petersburg

https://orcid.org/0000-0002-2527-9023ГоркинаО. К.GorkinaO. K.

Горкина Оксана Константиновна – асс. кафедры оториноларингологии 

194100 Санкт-Петербург, ул. Литовская, д. 2

St. Petersburg

https://orcid.org/0000-0002-4626-201XПавловП. В.PavlovP. V.

Павлов Павел Владимирович – д.м.н., доц., зав. кафедрой оториноларингологии  

194100 Санкт-Петербург, ул. Литовская, д. 2

St. Petersburg

https://orcid.org/0000-0001-6410-3533ЗахароваМ. Л.ZaharovaM. L.

Захарова Мария Леонидовна – д.м.н., доц. кафедры оториноларингологии 

194100 Санкт-Петербург, ул. Литовская, д. 2

St. Petersburg

https://orcid.org/0000-0003-2983-4124БреусенкоД. В.BreusenkoD. V.

Бреусенко Дмитрий Витальевич – к.м.н., зав. отделением оториноларингологии

194100 Санкт-Петербург, ул. Литовская, д. 2

St. Petersburg

ФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава РоссииРоссияSt. Petersburg State Pediatric Medical UniversityRussian Federation202006032020651116121Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20202020Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/1067

В статье приводятся данные литературы и описание клинического наблюдения CHARGE-синдрома с аутосомно-доминантным типом наследования у ребенка 3 лет 7 мес. Название синдрома – аббревиатура, образованная от терминов, означающих характерные врожденные пороки развития: «C» coloboma – колобома сосудистой оболочки, диска зрительного нерва, «H» heart defects – сердечно-сосудистые аномалии, «A» atresia of choanae – атрезия или стеноз хоан, «R» retardation of growth and development – дефицит роста, отставание в развитии, «G» genital anomalies – аномалии половых органов, «E» ear abnormalities and sensorineural hearing loss – аномалии органа слуха. Особенность представляемого клинического случая состоит в ранней диагностике CHARGE-синдрома, проявляющегося двусторонней колобомой сосудистой оболочки и диска зрительного нерва; односторонним парезом лицевого нерва; врожденным пороком сердца (открытый аортальный проток); задержкой роста, психомоторного и психоречевого развития; крипторхизмом; двусторонней аномалией наружного уха (короткое, широкое, без мочки и внешнего завитка), нейросенсорной тугоухостью; двусторонней гипоплазией почек, хронической болезнью почек.

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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The authors declare that there are no conflicts of interest present.