1.
Revue Maghrebine de Pediatrie [La]. 2007; 17 (4): 197-200
em Francês
| IMEMR
| ID: emr-180610
RESUMO
The DiGeorge syndrome is a genetic anomaly due to the microdeletion 22q11.2. This syndrome is characterized by a large variability in the clinical features. In this report we describe a DiGeorge syndrome diagnosed in a new born of a diabetic mother. He presented mild dysmorphia, ventricular septal defect and hypocalcaemia due to hypoparathyroidism. The diagnosis was confirmed by the cytogenetic study