Williams syndrome in a child with a multiple organ pathology
https://doi.org/10.21508/1027-4065-2017-62-5-106-110
Abstract
The article describes the clinical case of Williams syndrome with the combined pathology of many systems and organs: mental retardation, congenital heart disease (supravalvular aortic stenosis), arterial hypertension, hypercalcemia, hypercalciuria complicated by nephrocalcinosis, gastrointestinal tract injury, facial and eye anomalies, hernia of anterior abdominal wall, kyphoscoliosis. Microsatellite analysis of the loci of the critical region of chromosome 7 revealed a deletion of the investigated loci (D7S1870, D7S613, D7S2476, D7SEln), which led to the diagnosis of Williams syndrome.
About the Authors
T. V. Mihajlova
Kazan state medical Academy
Russian Federation
Russian Federation
D. I. Sadykova
Kazan state medical Academy
Russian Federation
Russian Federation
T. V. Pudovik
City Children hospital №2
Russian Federation
Russian Federation
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Review
For citations:
Mihajlova T.V., Sadykova D.I., Pudovik T.V. Williams syndrome in a child with a multiple organ pathology. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2017;62(5):106-110. (In Russ.) https://doi.org/10.21508/1027-4065-2017-62-5-106-110
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