ea0032p817 | Paediatric endocrinology | ECE2013
Coles Diana
, Teleanu Raluca
, Sandu Magdalena
, Matei Margarita
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...