Gaucher's disease physical examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

• Yellowish-brown skin pigmentation

• Enlarged spleen (splenomegaly)
• Enlarged liver (hepatomegaly)

• Bone pain and fractures
• An Erlenmeyer flask deformity of the distal femur is commonly described.

• Mental retardation
• Cognitive impairment
• Myoclonus
• Convulsions

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