ESPE Abstracts

Objective: This case report emphasizes the significance of early clinical examination in a pediatric endocrinology clinic for the diagnosis of Williams-Beuren Syndrome (WBS). WBS is a rare genetic disorder typically caused by a deletion in the chromosomal region 7q11.23. This deletion results in the loss of 25-27 genes, including the elastin gene. It is characterized by growth delay, mild intellectual disability, behavioral issues, cardiac diseases (mainly sup...