Syndrome de Jacobsen : à propos d'un cas

The Jacobsen Syndrome is characterized by a distal deletion of the long arm of chromosome 11. Its phenotypical expression is very variable. It associates facial dimorphism, congenital heart defects, digital anomaly, mild to moderate psychomotor retardation, a delay of the language, and a thrombocytopenia. We describe the case of a newborn girl with Jacobsen syndrome. She had facial dimorphism, interventricular septal defect, bilateral syndactyly of the fourth and fifth toes, left pyeloureteral duplication, and thrombocytopenia.