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Adult osteosclerotic metaphyseal dysplasia with progressive osteonecrosis of the jaws and abnormal bone resorption pattern due to a LRRK1 splice site mutation

Journal of Bone and Mineral Research Mar 12, 2020

Howaldt A, Hennig AF, Rolvien T, et al. - In this case report, researchers described a 34-year-old patient with sandwich vertebrae, platyspondyly, osteosclerosis of the tubular bones, pathologic fractures, and anemia. He developed osteonecrosis of the jaws in the third decade which was progressive despite repeated surgical treatment over an 11-year period. The study shows a strong overlap of LRRK1-related osteosclerotic metaphyseal dysplasia (OSMD), a rare autosomal recessive sclerosing skeletal dysplasia, with other forms of intermediate osteopetrosis, but an unusual osteoclast resorption abnormality. Like other osteoclast pathologies in OSMD, an intermediate form of osteopetrosis, an increased risk for progressive osteonecrosis of the jaws should be considered.
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