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
ABSTRACT
Anhidrotic ectodermal dysplasia [AED] is a rare, hereditary genodermatosis classically X-linked recessive disorder. Autosomic transmission is exceptional. The prolonged non-explicated fever could be a circumstance of diagnosis. Salsabil is a 14 month-old-girl. She was admitted with fever at the age of 29 days. Physical examination and bacteriogical findings were normal. Salsabil was admitted several times for "prolonged fever". In the last counseling Salsabil had a discrete facial dismorphy, desquamated dry skin, sparse, fine and slowly growing hair. Inflammatory assessment was normal. Salsabil's mother history taking revealed that Salsabil never sweats. The absence of sweat glands in skin biopsy leaded to the diagnosis of AED. Salsabil had no immunity disorder. The non explicated prolonged fever with a normal inflammatory assessment could be a circumstance of the diagnosis of AED. It is classically X-linked disease but autosomic transmission exists