Case: We present a long-term follow-up on a woman with otospondylomegaepiphyseal dysplasia (OSMED). At the age of 46 years, she is one of the oldest patients with the syndrome in the literature to date. We focus on the musculoskeletal anatomy and orthopaedic interventions over her lifetime.
Conclusion: OSMED is a very rare syndrome. Arthritis and joint pains presented in her early adolescence and progressed to the point of requiring joint replacements by her 20s. Early intervention and monitoring improved the quality of life for this patient.
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| http://dx.doi.org/10.2106/JBJS.CC.20.00140 | DOI Listing |
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Case: We present a long-term follow-up on a woman with otospondylomegaepiphyseal dysplasia (OSMED). At the age of 46 years, she is one of the oldest patients with the syndrome in the literature to date. We focus on the musculoskeletal anatomy and orthopaedic interventions over her lifetime.
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Article Synopsis
- Otospondylomegaepiphyseal dysplasia (OSMED) is a genetic skeletal disorder caused by mutations in the gene encoding α2(XI) collagen chains, which can be inherited in both dominant and recessive forms.
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