Abstract
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.
Highlights
В статье приводятся данные литературы и описание клинического наблюдения CHARGE-синдрома с аутосомно-доминантным типом наследования у ребенка 3 лет 7 мес
The name of the syndrome is formed by the first letters of the characteristic congenital malformations: “C” – optic disc coloboma, “H” – cardiovascular abnormalities, “A” – atresia or stenosis of choan, “R” – growth deficit, developmental delay, “G” – genital anomalies, “E” – 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; retardation of growth, psychomotor and psycho-speech development; cryptorchidism; bilateral anomaly of the outer ear, sensorineural hearing loss; bilateral renal hypopalasia, chronic kidney disease
Summary
В статье приводятся данные литературы и описание клинического наблюдения CHARGE-синдрома с аутосомно-доминантным типом наследования у ребенка 3 лет 7 мес. Ключевые слова: дети, CHARGE-синдром, колобома, нейросенсорная тугоухость, аномалии сердца, почек, ушей, костной системы, гипогонадизм. Название синдрома – аббревиатура, образованная от терминов, означающих характерные аномалии развития [1, 2, 6,7,8]: – «C» (coloboma) – одно- или двусторонняя колобома радужки, сетчатки, сосудистой оболочки, диска зрительного нерва с микрофтальмией или без таковой; – «H» (heart defects) – аномалии сердечно-сосудистой системы; – «A» (atresia of choanae) – одно- или двусторонняя атрезия либо 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.
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