{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T10:15:58Z","timestamp":1768644958802,"version":"3.49.0"},"reference-count":26,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T00:00:00Z","timestamp":1693267200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Orthod Craniofacial Res"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Cranio\u2010cervical anomalies are significant complications of osteogenesis imperfecta (OI), a rare bone fragility disorder that is usually caused by mutations in collagen type I encoding genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>To assess cranio\u2010cervical anomalies and associated clinical findings in patients with moderate\u2010to\u2010severe OI using 3D cone beam computed tomography (CBCT) scans.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Cross\u2010sectional analysis of CBCT scans in 52 individuals with OI (age 10\u201337\u2009years; 32 females) and 40 healthy controls (age 10\u201332\u2009years; 26 females). Individuals with a diagnosis of OI type III (severe, n\u2009=\u200911), type IV (moderate, n\u2009=\u200933) and non\u2010collagen OI (n\u2009=\u20098) were recruited through the Brittle Bone Disorders Consortium. Controls were recruited through the orthodontic clinic of the University of Missouri\u2010Kansas City (UMKC).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>OI and control groups were similar in mean age (OI: 18.4 [SD: 7.2] years, controls: 18.1 [SD: 6.3] years). The cranial base angle was increased in the OI group (OI: mean 148.6\u00b0 [SD: 19.3], controls: mean 130.4\u00b0 [SD: 5.7], <jats:italic>P<\/jats:italic>\u2009=\u2009.001), indicating a flatter cranial base. Protrusion of the odontoid process into the foramen magnum (n\u2009=\u20097, 14%) and abnormally located odontoid process (n\u2009=\u200919, 37%) were observed in the OI group but not in controls. Low stature, expressed as height <jats:italic>z<\/jats:italic>\u2010score (<jats:italic>P<\/jats:italic>\u2009=\u2009.01), presence of DI (<jats:italic>P<\/jats:italic>\u2009=\u2009.04) and being male (<jats:italic>P<\/jats:italic>\u2009=\u2009.04) were strong predictors of platybasia, whereas height <jats:italic>z<\/jats:italic>\u2010score (<jats:italic>P<\/jats:italic>\u2009=\u2009.049) alone was found as positive predictor for basilar impression as per the Chamberlain measurement.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The severity of the phenotype in OI, as expressed by the height <jats:italic>z<\/jats:italic>\u2010score, correlates with the severity of cranial base anomalies such as platybasia and basilar impression in moderate\u2010to\u2010severe OI. Screening for cranial base anomalies is advisable in individuals with moderate\u2010to\u2010severe OI, with special regards to the individuals with a shorter stature and DI.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ocr.12707","type":"journal-article","created":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T15:38:43Z","timestamp":1693323523000},"page":"237-243","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp>Cranio\u2010cervical<\/scp> abnormalities in moderate\u2010to\u2010severe osteogenesis imperfecta \u2013 Genotypic and phenotypic determinants"],"prefix":"10.1111","volume":"27","author":[{"given":"Juliana","family":"Marulanda","sequence":"first","affiliation":[{"name":"Shriners Hospital for Children  Montreal Quebec Canada"},{"name":"Department of Pediatrics McGill University  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2112-9201","authenticated-orcid":false,"given":"Jean\u2010Marc","family":"Retrouvey","sequence":"additional","affiliation":[{"name":"University of Missouri\u2010Kansas City  Kansas City Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brendan","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V. Reid","family":"Sutton","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Members of the BBDC","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Rauch","sequence":"additional","affiliation":[{"name":"Shriners Hospital for Children  Montreal Quebec Canada"},{"name":"Department of Pediatrics McGill University  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0737-9848","authenticated-orcid":false,"given":"Michelle","family":"Briner","sequence":"additional","affiliation":[{"name":"University of Missouri\u2010Kansas City  Kansas City Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,8,29]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)16051-0"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41390-023-02550-0"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.242"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-016-3723-3"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbm4.10174"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-20-0299"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajodo.2012.10.016"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30523"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbm4.10124"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.220"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.2006.105.3.361"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1080\/02688697.2021.1931811"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02011910"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11916-016-0580-x"},{"issue":"1","key":"e_1_2_9_16_1","first-page":"89","article-title":"Evaluation of platybasia with MR imaging","volume":"26","author":"Koenigsberg RA","year":"2005","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00276-020-02457-z"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.crad.2007.03.008"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.109.1.45"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/8.3.141"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/8.3.149"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-70339-3_1"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nic.2009.06.002"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0045-1"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2021.115917"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10143-017-0830-3"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23147817"}],"container-title":["Orthodontics &amp; Craniofacial Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ocr.12707","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,5]],"date-time":"2024-03-05T08:04:02Z","timestamp":1709625842000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ocr.12707"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,29]]},"references-count":26,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,4]]}},"alternative-id":["10.1111\/ocr.12707"],"URL":"https:\/\/doi.org\/10.1111\/ocr.12707","archive":["Portico"],"relation":{},"ISSN":["1601-6335","1601-6343"],"issn-type":[{"value":"1601-6335","type":"print"},{"value":"1601-6343","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,29]]},"assertion":[{"value":"2023-06-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}