[Marfan syndrome and related disorders]
Anne-Cécile Debrach1,2, Magalie Ladouceur3, Andrea Trombetti1,2
1Service des maladies osseuses, Hôpitaux universitaires de Genève, 1211 Genève 14.
Abstract:
Marfan syndrome and related disorders describe a group of rare genetic diseases affecting connective tissue and characterised by cardiovascular, ocular and musculoskeletal manifestations. Marfan syndrome presents with a marfanoid habitus, ectopia lentis, dilatation of the aorta and typical musculoskeletal features. Other related disorders share similar characteristics. Loeys-Dietz syndrome distinguishes itself with generalized arterial tortuosities and aneurysms as well as, occasionally, hypertelorism and bifid uvula; patients with Beals syndrome have congenital articular contractures and craniofacial anomalies. Lujan-Fryns and Shprintzen-Goldberg syndromes, as well as homocystinuria, are often associated with intellectual disability.
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