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Progeroide Variante eines Marfan-Syndroms

✍ Scribed by Dr. L.M. Graul-Neumann, K. Hoffmann, P. Robinson, D. Horn

Book ID: 118818828
Publisher: Springer-Verlag
Year: 2012
Tongue: German
Weight: 761 KB
Volume: 24
Category: Article
ISSN: 0936-5931
DOI: 10.1007/s11825-012-0361-9

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## Abstract We report on a 25‐year‐old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ectasia, bilateral subluxation of the lens, and severe