Revised ghent criteria for marfan syndrome diagnosis. Guidelines for the diagnosis and management of marfan syndrome. Marfan syndrome is a multisystem connective tissue disorder usually associated with mutation in fibrillin, and occasionally with mutation in tgfbr1 or 2. Uvadare digital academic repository marfan syndrome. Marfan syndrome, a systemic disorder of connective tissue with a high degree of. I revised ghent criteria for the diagnosis of marfan syndrome mfs. Marfan syndrome is an autosomic dominant genetic disorder of the elastic fibers of connective tissue.
The revised ghent nosology for the marfan syndrome. The diagnosis of mfs is based on recently revised ghent criteria loeys bl et al. Diagnostiek marfan syndroom richtlijn richtlijnendatabase. Marfan syndrome mfs is a genetic disorder of the connective tissue. Marfan syndrome mfs is an autosomal dominant connective tissue disorder. I revised ghent criteria for the diagnosis of marfan syndrome mfs and. 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. Isabel toledo g1, andrea montecinos oa, juan molina p1. Aug 23, 2018 please use one of the following formats to cite this article in your essay, paper or report. The revised ghent nosology for the marfan syndrome pdf. Marfan syndrome marfan syndrome is an autosomic dominant genetic disorder of the elastic fibers of connective tissue. Huisartsenbrochure het marfan syndroom huisarts en genetica.