Disease definition. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones. Camurati–Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the is also known as. A number sign (#) is used with this entry because of evidence that Camurati- Engelmann disease results from domain-specific heterozygous mutations in the.
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It begins in childhood and follows a progressive course.
Common symptoms include extremity pain, muscle weakness, cranial nerve impairment and waddling gait. A small proportion can be asymptomatic. Patients can have hepatosplenomegaly 5.
In a vast majority of cases, it occurs from a defect in the TGFB1 gene. It is due to osteoblastic overactivity.
Tends to be bilateral and symmetrical. Can affect any bone but has a greater predilection for the long bones femur, tibia, fibula, humerus, ulna and radius.
Other common sites include the skull and pelvis. You can also scroll through stacks with your mouse wheel or the keyboard arrow keys.
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Camurati-Engelmann disease | Radiology Reference Article |
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