Characteristic phenotype of Marfan Syndrome.

Characteristic phenotype of Marfan Syndrome.

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Hintergrund: Bei vielen Patienten mit Marfan- oder Loeys-Dietz-Syndrom wird die Übergewichtigkeit klinisch oft übersehen. Die moderne Bioelektrische Impedanzanalyse scheint den anthropometrischen Routineparametern für die Erfassung einer zuverlässigen nicht-invasiven Bewertung der Körperzusammensetzung von Patienten überlegen zu sein. Ziel der Stud...

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Context 1
... Aortic dilatation / Aortic dissection 2. Eye / Lens (sub)luxation 3. Systemic organ involvement (Table 2) 4. Family Anamnesis 5. Pathogenic mutation in FBN 1 gene Table 1. The major and minor criteria for the diagnosis of MFS according to the revised Ghent criteria for the diagnosis of MFS ( In the presence of a positive family history, at least one of the following three conditions must be met to diagnose MFS ( Figure 3): ...

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