Searchable abstracts of presentations at key conferences in endocrinology

ea0032p818 | Paediatric endocrinology | ECE2013

Case report: two patients with Di George syndrome with different diagnostic peculiarities

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...