Patient with Williams-Beuren syndrome in paediatrician’s office

Česká verzia

Authors: Urbanová Wanda ^1,2; Kubíková Hana ¹; Dubovská Ivana ^1,3; Chramosta Petr ^1,4,5; Pelánová Jana ^1,6,7
Authors place of work: Spolek pro Williamsův syndrom, z. s. – Willík ¹; Oddělení ortodoncie a rozštěpových vad, Stomatologická klinika, 3. lékařská fakulta Univerzity Karlovy a FN Královské Vinohrady, Praha 3 Ortodontické oddělení, Klinika zubního lékařství, Univerzita Palackého a FN Olomouc ²; Stomatologická klinika, Lékařská fakulta Univerzity Karlovy v Plzni a FN Plzeň ⁴; Oddělení ústní, čelistní a obličejové chirurgie, Masarykova nemocnice, Ústí nad Labem ⁵; Ordinace PLDD – MUDr. Jana Pelánová ⁶; Oddělení neurofyziologie sluchu, Ústav experimentální medicíny, Akademie věd ČR ⁷
Published in the journal: Čes-slov Pediat 2022; 77 (4): 232-235.
Category:
doi: https://doi.org/10.55095/CSPediatrie2022/038

Summary

Williams-Beuren syndrome is a multisystemic disorder caused by a microdeletion of the long arm of chromosome 7. Characteristic features of this syndrome include distinctive facial dysmorphism, cardiovascular system anomalies, growth retardation, delayed psychomotoric development and mild to moderate mental deficiency. Early diagnosis is essential for targeted treatment. The care of a patient with Williams-Beuren syndrome requires regular check-ups performed by paediatrician together with other specialists.

Keywords:

Williams-Beuren syndrome – microdeletion – chromosome 7 – elfin face – supravalvular aortic stenosis

Zdroje

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