[Jacobsen syndrome: a case report]

ABSTRACT

The Jacobsen syndrome is a malformatif syndrome characterized by a distal deletion of the long arm of chromosome 11. It associates facial dysmorphism, visceral and skeletal anomalies and thrombocytopenia. We describe a Jacobsen syndrome in an infant. The diagnosis was suspected because of association of facial dysmorphism, interventricular septal defect, a malrotation of the mesenteric axis, toes abnormalities and thrombocytopenia. The disease was confirmed by genetic analysis which shows a terminal deletion 11 q2.4. Jacobsen syndrome is a possible cause on thrombocytopenia. We shall evocate it if a malformatif syndrome is associated