Article
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 : the official journal of the American Society for Bone and Mineral Research - 1 Jul 2020
Howaldt Antonia, Hennig Anna Floriane, Rolvien Tim, Rössler Uta, Stelzer Nina, Knaus Alexej, Böttger Sebastian, Zustin Jozef, Geißler Sven, Oheim Ralf, Amling Michael, Howaldt Hans-Peter, Kornak Uwe
Abstract excerpt
Osteosclerotic metaphyseal dysplasia (OSMD) is a rare autosomal recessive sclerosing skeletal dysplasia. We report on a 34-year-old patient with sandwich vertebrae, platyspondyly, osteosclerosis of the tubular bones, pathologic fractures, and anemia. In the third decade, he developed osteonecrosis of the jaws, which was progressive in spite of repeated surgical treatment over a period of 11 years. An iliac crest...
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