CAMURATI-ENGELMANN DISEASE PDF

Description Camurati-Engelmann disease is a skeletal condition that is characterized by abnormally thick bones hyperostosis in the arms, legs, and skull. The thick limb bones can lead to bone pain and muscle weakness in the arms and legs and cause individuals with Camurati-Engelmann disease to tire quickly. Bone pain ranges from mild to severe and can increase with stress, activity, or cold weather. Leg weakness can make it difficult to stand up from a seated position and some affected individuals develop a waddling or unsteady walk. Additional limb abnormalities include joint deformities contractures , knock knees, and flat feet pes planus.

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Description Camurati-Engelmann disease is a skeletal condition that is characterized by abnormally thick bones hyperostosis in the arms, legs, and skull. The thick limb bones can lead to bone pain and muscle weakness in the arms and legs and cause individuals with Camurati-Engelmann disease to tire quickly.

Bone pain ranges from mild to severe and can increase with stress, activity, or cold weather. Leg weakness can make it difficult to stand up from a seated position and some affected individuals develop a waddling or unsteady walk.

Additional limb abnormalities include joint deformities contractures , knock knees, and flat feet pes planus. Swelling and redness erythema of the limbs and an abnormal curvature of the spine can also occur. Individuals with Camurati-Engelmann disease may have an unusually thick skull, which can lead to an abnormally large head macrocephaly and lower jaw mandible , a prominent forehead frontal bossing , and bulging eyes with shallow eye sockets ocular proptosis.

These changes to the head and face become more prominent with age and are most noticeable in affected adults. In about a quarter of individuals with Camurati-Engelmann disease, the thickened skull increases pressure on the brain or compresses the spinal cord, which can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness vertigo , ringing in the ears tinnitus , and facial paralysis.

The degree of hyperostosis varies among individuals with Camurati-Engelmann disease as does the age at which they experience their first symptoms. Other, rare features of Camurati-Engelmann disease include abnormally long limbs in proportion to height, a decrease in muscle mass and body fat, delayed teething dentition , frequent cavities, delayed puberty, a shortage of red blood cells anemia , an enlarged liver and spleen hepatosplenomegaly , thinning of the skin, and excessively sweaty hyperhidrotic hands and feet.

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