I revised ghent criteria for the diagnosis of marfan syndrome mfs. Marfan syndrome, a systemic disorder of connective tissue with a high degree of. The revised ghent nosology for the marfan syndrome pdf. Guidelines for the diagnosis and management of marfan syndrome. The revised ghent nosology for the marfan syndrome. Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in tgfbr1 or 2. Marfan syndrome mfs is an autosomal dominant connective tissue disorder. Although neonatal and infant forms of the disease exist, the classic marfan syndrome is the most frequent form of presentation in childhood and adolescence, whith a. Algunas personas tienen sintomas leves, y otras tienen problemas graves. Revised diagnostic criteria for the marfan syndrome. I revised ghent criteria for the diagnosis of marfan syndrome mfs and. Diagnostiek marfan syndroom richtlijn richtlijnendatabase. Revised ghent criteria for marfan syndrome diagnosis. Isabel toledo g1, andrea montecinos oa, juan molina p1.
Although neonatal and infant forms of the disease exist, the classic marfan syndrome is the most frequent form of presentation in childhood and adolescence, whith a hereditary background in 70 to 85% of cases. Huisartsenbrochure het marfan syndroom huisarts en genetica. Het bindweefsel is bij het marfan syndroom minder flexibel en vertoont gemakkelijk. The diagnosis of mfs is based on recently revised ghent criteria loeys bl et al. Uvadare digital academic repository marfan syndrome. Isabel toledo g1, andrea montecinos oa, juan molina. Marfan syndrome is an autosomic dominant genetic disorder of the elastic fibers of connective tissue.
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