Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation

Marfan syndrome with neonatal progeroid

Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3′ terminus of the FBN1-gene

✍ Luitgard M. Graul-Neumann; Tina Kienitz; Peter N. Robinson; Sevjidmaa Baasanjav; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB 👁 2 views

## 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