Publication at Faculty of Medicine in Pilsen, Third Faculty of Medicine |
2022
Abstract
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.