CLINICAL AND GENETIC CHARACTERISTICS AND FEATURES OF MANAGEMENT OF PATIENTS WITH WILLIAMS SYNDROME: DESCRIPTION OF THREE CASES AND LITERATURE REVIEW

Autor:	N. V. Shilova, D.V. Svetlychnaya, V.G. Antonenko, J.G. Markova, T.V. Markova, M.F. Vladimirsky Moscow Oblast Regional Scientific, M.E. Minzhenkova, O.A. Solovova, N.P. Kotlukova
Rok vydání:	2021
Předmět:	Pediatrics medicine.medical_specialty business.industry Pediatrics Perinatology and Child Health Medicine Williams syndrome business medicine.disease
Zdroj:	Pediatria. Journal named after G.N. Speransky. 100:141-147
ISSN:	1990-2182 0031-403X
Popis:	Williams syndrome (OMIM 194050) is a multisystem inherited disorder associated with microdeletion of the long arm of chromosome 7 (q11.23). Typical clinical manifestations of the syndrome are supravalvular aortic stenosis and other congenital anomalies of the heart and blood vessels, facial abnormalities, neonatal hypercalcemia, lag in physical, psychomotor and mental development, unusual cognitive and behavioral profile. Patients with WS require medical supervision and prevention of complications throughout their lives. The paper presents an overview of the results of studies devoted to the study of various aspects of diagnosis and management of patients with WS. The description of the three new cases of WS addresses the main problems and possibilities of diagnosis of the disease in patients with different clinical manifestations.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::bdf6ffc69f1150650e54fbbe747b859c https://doi.org/10.24110/0031-403x-2021-100-4-141-147 Zobrazit plný text záznamu