Endocrine Abstracts

Introduction: Williams–Beuren syndrome is a rare genetic condition with clinical manifestations that include a distinct facial appearance, cardiovascular anomalies that may be present at birth or may develop later in life, idiopathic hypercalcemia, and a characteristic neurodevelopmental and behavioral profile.Case report: We present a particular case of a 3.5 years old boy, born SGA at 39 weeks of gestation with neonatal hypoxia, diagnosed at 1.6 y...

Introduction: Di George syndrome is a genetic disorder caused by deletion of chromosome 22. The main features are congenital heart defects, absence or hypoplasia of thymus (with consecutive immunodeficiency and infections), hypoparathyroidism with hypocalcaemia, gastrointestinal problems, delayed psychomotor development, craniofacial abnormalities, tendency to develop seizures and psychiatric disorders.Case report: We present the case of two patients wit...