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The revised Ghent nosology for the Marfan syndrome
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  • Published on:
    Re:Comments on the revised Ghent nosology for Marfan syndrome

    We would like to thank Dr. Hennekam for his comments but would like to reply to several points made by him. We agree with Dr. Hennekam that there is a good correlation between the current nosology and the FBN1 mutation uptake, but an important goal for the new nosology is to make it simpler and more easily applicable (which is not always true for the current one). There is also an important focus on the cardiovascular a...

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    Conflict of Interest:
    None declared.
  • Published on:
    Comments on the revised Ghent nosology for Marfan syndrome

    The Ghent criteria as proposed in 1996 are world-wide well accepted to define the diagnostic criteria for Marfan syndrome. The criteria are easy to use and work extremely well, shown by finding causative FBN1 Mutations in 97% of cases. Indeed this specificity of diagnostic criteria is amongst the highest reported in any syndromic entity. A large group of superb Marfan specialists have now suggested a revision of these cr...

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    Conflict of Interest:
    None declared.
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    Reply to: The revised Ghent nosology for the Marfan Syndrome

    To the editor

    In the July issue, Loeys and colleagues present new diagnostic criteria for Marfan Syndrome (MFS) in their manuscript "The revised Ghent nosology for the Marfan Syndrome"[1]. After publication of these Revised Ghent Marfan criteria, a manuscript was published which in part supports their opinions[2]. After complimenting Loeys with the result of their multidisciplinary effort, we would like...

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    Conflict of Interest:
    None declared.