{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T17:00:29Z","timestamp":1787590829648,"version":"build-2736575974"},"reference-count":23,"publisher":"BMJ","issue":"4","license":[{"start":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T00:00:00Z","timestamp":1649808000000},"content-version":"unspecified","delay-in-days":12,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:p>Mutation in SP7, encoding the osteoblast-specific transcription factor SP7 (also known as osterix), has been described to cause osteogenesis imperfecta (OI) type XII. However, the exact dental phenotype has not been well described. We report the detailed dental manifestation of a boy known to have OI type XII, presented with impacted dentition, necessitating combined oral and maxillofacial surgical and orthodontic treatment. This case also highlighted the need of multidisciplinary team assessment in this group of children.<\/jats:p>","DOI":"10.1136\/bcr-2021-246554","type":"journal-article","created":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T17:32:49Z","timestamp":1649871169000},"page":"e246554","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":8,"title":["Dental phenotype in an adolescent with osteogenesis imperfecta type XII"],"prefix":"10.1136","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7897-716X","authenticated-orcid":false,"given":"Joanna Yuet-ling","family":"Tung","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeni Lai-in","family":"Ho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricky","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siu-chung","family":"Fung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2022,4,13]]},"reference":[{"key":"2023030803051131000_15.4.e246554.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36545"},{"key":"2023030803051131000_15.4.e246554.2"},{"key":"2023030803051131000_15.4.e246554.3","doi-asserted-by":"crossref","DOI":"10.1002\/jbm4.10174","article-title":"Osteogenesis imperfecta: new perspectives from clinical and translational research","volume":"3","author":"Tauer","year":"2019","journal-title":"JBMR Plus"},{"key":"2023030803051131000_15.4.e246554.4","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.bone.2018.01.031","article-title":"Novel variant in Sp7\/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment","volume":"110","author":"Fiscaletti","year":"2018","journal-title":"Bone"},{"key":"2023030803051131000_15.4.e246554.5","doi-asserted-by":"crossref","DOI":"10.1186\/s12903-018-0639-7","article-title":"The dental perspective on osteogenesis imperfecta in a Danish adult population","volume":"18","author":"Thuesen","year":"2018","journal-title":"BMC Oral Health"},{"key":"2023030803051131000_15.4.e246554.6","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2018.12.011","article-title":"Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V","volume":"62","author":"Retrouvey","year":"2019","journal-title":"Eur J Med Genet"},{"key":"2023030803051131000_15.4.e246554.7","first-page":"313","article-title":"Orthopaedic and dental abnormalities in osteogenesis imperfecta: a review of the literature","volume":"25","author":"Scaramuzzo","year":"2011","journal-title":"J Biol Regul Homeost Agents"},{"key":"2023030803051131000_15.4.e246554.8","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1080\/00016357.2021.1881160","article-title":"Dental and dentoalveolar dimensions in individuals with osteogenesis imperfecta","volume":"79","author":"Waltimo-Sir\u00e9n","year":"2021","journal-title":"Acta Odontol Scand"},{"key":"2023030803051131000_15.4.e246554.9","doi-asserted-by":"publisher","DOI":"10.1016\/S1079-2104(99)70272-6"},{"key":"2023030803051131000_15.4.e246554.10","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1111\/odi.12568","article-title":"Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes","volume":"23","author":"Malmgren","year":"2017","journal-title":"Oral Dis"},{"key":"2023030803051131000_15.4.e246554.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajodo.2012.10.016"},{"key":"2023030803051131000_15.4.e246554.12","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0176466","article-title":"Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - 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