Bone Dysplasias
A 28-year-old woman presents with progressive pain and stiffness in her left leg. Examination reveals thickened skin overlying the tibia and limited knee range of motion. Radiographs show dense cortical bone flowing down the tibia resembling "dripping candle wax." Regarding melorheostosis:
Mark each as TRUE or FALSE
Melorheostosis is a rare sclerosing bone dysplasia characterized by flowing hyperostosis of cortical...
Melorheostosis typically affects a single limb in a sclerotomal distribution (corresponding to a sin...
Melorheostosis is inherited in an autosomal dominant pattern with complete penetrance; it always pre...
Recent genetic studies have identified somatic (post-zygotic) mutations in MAP2K1 in affected bone t...
Clinical features include pain, joint stiffness, limb length discrepancy, and soft tissue involvemen...
Answer the questions to see explanations
Click T (True) or F (False) for each option