부산대학교 도서관

ABSTRACT Osteosclerotic metaphyseal dysplasia (OSMD) is a very rare autosomal‐recessive disease caused by mutations in the leucine‐rich repeat kinase 1 (LRRK1) gene. It is a sclerosing skeletal dysplasia characterized by osteosclerosis of the long bones, predominantly at the metaphyses and vertebrae. Phenotypic features can be short stature, pathological fractures, delayed development, and hypotonia, but they are not uniformly present, and relatively few cases are known from the literature. A 40‐year‐old man was seen at our bone center because of nonspontaneous multiple peripheral low‐energy trauma fractures since puberty. He had no other complaints and his family history was negative. Except for a relatively short stature (167 cm; −1.5 SD), there were no abnormalities on examination, including laboratory tests. Initially, a suspicion was raised of osteogenesis imperfecta, but bone mineral density was high and X‐rays of the whole skeleton showed osteosclerosis of the metaphyses of long bones and vertebrae. Whole‐exome sequencing showed a homozygous, likely pathogenic, variant (American College of Medical Genetics and Genomics criteria class 4) in the LRRK1 gene, fitting the diagnosis of OSMD. In conclusion, we described a 40‐year‐old patient with osteosclerotic metaphyseal dysplasia caused by a homozygous variant in the LRRK1 gene, resulting in multiple fractures of the long bones without other features of the disease, adding to the phenotypic variation of OSMD. © 2023 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.