CHARGE syndrome
https://doi.org/10.21508/1027-4065-2020-65-1-116-121
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.
About the Authors
J. G. Leviashvili
St. Petersburg State Pediatric Medical University
Russian Federation
St. Petersburg
Russian Federation
St. Petersburg
N. D. Savenkova
St. Petersburg State Pediatric Medical University
Russian Federation
St. Petersburg
Russian Federation
St. Petersburg
O. K. Gorkina
St. Petersburg State Pediatric Medical University
Russian Federation
St. Petersburg
Russian Federation
St. Petersburg
P. V. Pavlov
St. Petersburg State Pediatric Medical University
Russian Federation
St. Petersburg
Russian Federation
St. Petersburg
M. L. Zaharova
St. Petersburg State Pediatric Medical University
Russian Federation
St. Petersburg
Russian Federation
St. Petersburg
D. V. Breusenko
St. Petersburg State Pediatric Medical University
Russian Federation
St. Petersburg
Russian Federation
St. Petersburg
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Review
For citations:
Leviashvili J.G., Savenkova N.D., Gorkina O.K., Pavlov P.V., Zaharova M.L., Breusenko D.V. CHARGE syndrome. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2020;65(1):116-121. (In Russ.) https://doi.org/10.21508/1027-4065-2020-65-1-116-121
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