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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

Back to skin conditions

Gaucher's disease physical examination

Introduction

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Overview

Overview

Physical Examination

Physical Examination

Skin

Yellowish-brown skin pigmentation

Abdomen

Extremities

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

Neurologic

Mental retardation
Cognitive impairment
Myoclonus
Convulsions

References

References

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