Clinical manifestations of Williams syndrome in children

Autor: M.D. Shakhnazarova, N.V. Frolkova, A.V. Vitebskaya
Rok vydání: 2021
Předmět:
Zdroj: Voprosy praktičeskoj pediatrii. 16:54-61
ISSN: 2414-9705
1817-7646
Popis: Williams syndrome (WS), also known as Williams–Beuren syndrome, is a rare genetic disorder affecting many organs and caused by hemizygous deletions of the long arm of chromosome 7 (7q11. 23). In this article, we describe typical pathological changes in the cardiovascular, endocrine, urinary, digestive, and nervous systems, as well as phenotypic characteristics and psychological aspects of this disease. We also cover a correlation between clinical manifestations of WS and genes in the remote area. The article contains a summary of the main recommendations for the treatment of individual manifestations, i.e. pathological conditions associated with this syndrome. Key words: children, Williams syndrome, cardiovascular disorder, hypercalcemia, hypothyroidism, growth retardation, mental retardation
Databáze: OpenAIRE