| Popis: |
We present different cases of cardiovascular abnormalities in 3 patients with WS aged between 8months and 7 years. Williams-Beuren Syndrome is characterized by specific facial dysmorphism that may look like an “elfin face”, congenital heart diseases, cognitive disorder, social personality disorder and endocrinological abnormalities. WBS is generally sporadic, it is caused by de novo deletions, and has a recurrence risk lower than 5%. Early diagnosis of this syndrome is important to start therapy for other medical problems that may develop. Lifelong cardiac follow up is necessary because of the risks of developing vasculopathy or arterial hypertension. The importance of research during the neonatal period is pointed up in order to reduce morbidity and mortality rates and ensure a better quality of life during the development of these children. |
