ea0032p818 | Paediatric endocrinology | ECE2013
Coles Diana
, Teleanu Raluca
, Vasile Daniela
, Matei Margarita
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...