{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T05:35:55Z","timestamp":1768455355428,"version":"3.49.0"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,6,7]],"date-time":"2021-06-07T00:00:00Z","timestamp":1623024000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,6,7]],"date-time":"2021-06-07T00:00:00Z","timestamp":1623024000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"the Distinguished Professor at the Educational Department of Liaoning Province","award":["[2015]153"],"award-info":[{"award-number":["[2015]153"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Musculoskelet Disord"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by increased bone fragility and a series of extraskeletal manifestations. Approximately 90\u2009% of OI cases are caused by type I collagen variants encoded by the collagen type I alpha 1 (<jats:italic>COL1A1<\/jats:italic>) or type I alpha 2 (<jats:italic>COL1A2<\/jats:italic>) gene. Lumbar Scheuermann\u2019s disease is an atypical type of Scheuermann\u2019s disease accompanied by Schmorl\u2019s nodes and irregular endplates but without pronounced kyphosis. Although the etiology of Scheuermann\u2019s disease is unclear, genetic and environmental factors are likely.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>Here, we report a 32-year-old male patient who experienced multiple brittle fractures. Gene sequencing revealed a heterozygous mutation, c.4048G\u2009&gt;\u2009A (p.G1350S), in the <jats:italic>COL1A2<\/jats:italic> gene, and the patient was diagnosed with OI. Magnetic resonance imaging of his thoracolumbar spine revealed multiple Schmorl\u2019s nodes.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This is the first reported case of OI coexisting with the spinal presentation of Scheuermann\u2019s disease. It is speculated that the <jats:italic>COL1A2<\/jats:italic> gene mutation might be an underlying novel genetic cause of Scheuermann\u2019s disease. In conclusion, this case demonstrates the relationship between Scheuermann\u2019s disease and OI for the first time and enriches the genotype-phenotype spectrum of OI.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12891-021-04401-7","type":"journal-article","created":{"date-parts":[[2021,6,7]],"date-time":"2021-06-07T17:03:39Z","timestamp":1623085419000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Lumbar Scheuermann\u2019s disease found in a patient with osteogenesis imperfecta (OI) caused by a heterozygous mutation in COL1A2 (c.4048G\u2009&gt;\u2009A): a case report"],"prefix":"10.1186","volume":"22","author":[{"given":"Shiwei","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoli","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaochun","family":"Teng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Songbai","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanyi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhongyan","family":"Shan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yushu","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,6,7]]},"reference":[{"key":"4401_CR1","doi-asserted-by":"publisher","first-page":"17052","DOI":"10.1038\/nrdp.2017.52","volume":"3","author":"JC Marini","year":"2017","unstructured":"Marini JC, Forlino A, B\u00e4chinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, et al. 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