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Facial dysmorphism in patient with mevalonic aciduria

Patient with mevalonic aciduria at the age of 21 months displaying the characteristic facial dysmorphism. (Reproduced with permission from: Haas D, Kelley RI, Hoffmann GF. Inherited disorders of cholesterol biosynthesis. Neuropediatrics 2001;32(3):113-22.)

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  • Hyperimmunoglobulinemia D and periodic fever syndrome
  • Periodic fever, Dutch type