{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T12:36:21Z","timestamp":1777293381215,"version":"3.51.4"},"reference-count":16,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2010,8,18]],"date-time":"2010-08-18T00:00:00Z","timestamp":1282089600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Cranial base abnormalities are an important complication of osteogenesis imperfecta (OI), a hereditary bone fragility disorder that in most patients is caused by mutations affecting collagen type I. To elucidate which clinical characteristics are associated with the occurrence of cranial base abnormalities in OI, we compared cephalometric results of 187 OI patients (median age 12.0 years, range 3.4 to 47 years; 96 female) with those of 191 healthy subjects and related findings to clinical descriptors of the disease. Overall, 41 patients (22%) had at least one unambiguously abnormal skull base measure. Multivariate logistic regression analysis in patients with OI types I, III, and IV (n\u2009=\u2009169) revealed that height Z-score [odds ratio (OR)\u2009=\u20090.53, 95% confidence interval (CI) 0.43\u20130.66, p\u2009&amp;lt;\u2009.001]\u2014but not age, gender, scleral hue, lumbar spine areal bone mineral density, or a history of bisphosphonate treatment\u2014was a significant independent determinant of skull base abnormalities. Among patients with a height Z-score below \u20133, 48% had a skull base abnormality regardless of whether they had received bisphosphonate treatment in the first year of life or not. Genotype-phenotype correlations were evaluated in patients with detectable mutations in COL1A1 or COL1A2, the genes coding for collagen type I (n\u2009=\u2009140). Skull base abnormalities were present in 6% of patients with haploinsufficiency (frameshift or nonsense) mutations, in 43% of patients with helical glycine substitutions caused by COL1A1 mutations, in 32% of patients with helical glycine substitutions owing to COL1A2 mutations, and in 17% of patients with splice-site mutations affecting either COL1A1 or COL1A2. However, multivariate logistic regression analysis showed that height Z-score but not the type of collagen type I mutation was independently associated with the prevalence of skull base abnormalities. In conclusion, this study shows that clinical severity of OI, as expressed by the height Z-score, was the strongest predictor of skull base abnormalities. We did not find evidence for the hypothesis that bisphosphonate treatment protects against skull base abnormalities. \u00a9 2011 American Society for Bone and Mineral Research.<\/jats:p>","DOI":"10.1002\/jbmr.220","type":"journal-article","created":{"date-parts":[[2010,8,18]],"date-time":"2010-08-18T17:48:04Z","timestamp":1282153684000},"page":"405-413","source":"Crossref","is-referenced-by-count":54,"title":["Cranial base abnormalities in osteogenesis imperfecta: Phenotypic and genotypic determinants"],"prefix":"10.1093","volume":"26","author":[{"given":"Moira S","family":"Cheung","sequence":"first","affiliation":[{"name":"Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heidi","family":"Arponen","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Institute of Dentistry, University of Helsinki, Helsinki, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Roughley","sequence":"additional","affiliation":[{"name":"Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel E","family":"Azouz","sequence":"additional","affiliation":[{"name":"Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francis H","family":"Glorieux","sequence":"additional","affiliation":[{"name":"Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janna","family":"Waltimo-Sir\u00e9n","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Institute of Dentistry, University of Helsinki, Helsinki, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frank","family":"Rauch","sequence":"additional","affiliation":[{"name":"Genetics Unit, Shriners Hospital for Children, Montreal, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2010,8,18]]},"reference":[{"key":"2024020318045015700_bib1","doi-asserted-by":"crossref","first-page":"1377","DOI":"10.1016\/S0140-6736(04)16051-0","article-title":"Osteogenesis imperfecta","volume":"363","author":"Rauch","year":"2004","journal-title":"Lancet."},{"key":"2024020318045015700_bib2","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1034\/j.1399-0004.2000.580404.x","article-title":"Collagens: building blocks at the end of the development line","volume":"58","author":"Byers","year":"2000","journal-title":"Clin Genet."},{"key":"2024020318045015700_bib3","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/humu.20429","article-title":"Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans","volume":"28","author":"Marini","year":"2007","journal-title":"Hum Mutat."},{"key":"2024020318045015700_bib4","doi-asserted-by":"crossref","first-page":"594","DOI":"10.3171\/SPI-07\/12\/594","article-title":"Basilar impression and osteogenesis imperfecta: a 21-year retrospective review of outcomes in 20 patients","volume":"7","author":"Ibrahim","year":"2007","journal-title":"J Neurosurg Spine."},{"key":"2024020318045015700_bib5","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1007\/s00381-008-0602-z","article-title":"Specific entities affecting the craniocervical region: osteogenesis imperfecta and related osteochondrodysplasias\u2014medical and surgical management of basilar impression","volume":"24","author":"Menezes","year":"2008","journal-title":"Childs Nerv Syst."},{"key":"2024020318045015700_bib6","doi-asserted-by":"crossref","first-page":"361","DOI":"10.3171\/jns.2006.105.3.361","article-title":"Skull base abnormalities in osteogenesis imperfecta: a cephalometric evaluation of 54 patients and 108 control volunteers","volume":"105","author":"Kovero","year":"2006","journal-title":"J Neurosurg."},{"key":"2024020318045015700_bib7","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1080\/000163501750157072","article-title":"Emergence of permanent teeth and dental age in a series of Finns","volume":"59","author":"Nystrom","year":"2001","journal-title":"Acta Odontol Scand."},{"key":"2024020318045015700_bib8","first-page":"121","article-title":"Osteogenesis imperfecta: clinical, cephalometric, and biochemical investigations of OI types I, III, and IV","volume":"17","author":"Jensen","year":"1997","journal-title":"J Craniofac Genet Dev Biol."},{"key":"2024020318045015700_bib9","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1007\/s00381-009-1058-5","article-title":"Dimensions of the craniocervical junction in longitudinal analysis of normal growth","volume":"26","author":"Arponen","year":"2010","journal-title":"Childs Nerv Syst."},{"key":"2024020318045015700_bib10","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1111\/j.1651-2227.1992.tb12152.x","article-title":"Lumbar bone mineral content measured by dual energy X-ray absorptiometry in newborns and infants","volume":"81","author":"Salle","year":"1992","journal-title":"Acta Paediatr."},{"key":"2024020318045015700_bib11","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1086\/301689","article-title":"Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations","volume":"62","author":"Korkko","year":"1998","journal-title":"Am J Hum Genet."},{"key":"2024020318045015700_bib12","volume-title":"The metabolic and molecular bases of inherited diseases","author":"Byers","year":"2002"},{"key":"2024020318045015700_bib13","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1542\/peds.109.1.45","article-title":"Centers for Disease Control and Prevention 2000 growth charts for the United States: improvements to the 1977 National Center for Health Statistics version","volume":"109","author":"Ogden","year":"2002","journal-title":"Pediatrics."},{"key":"2024020318045015700_bib14","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/S0720-048X(02)00179-1","article-title":"Osteogenesis imperfecta in childhood: MR imaging of basilar impression","volume":"47","author":"Janus","year":"2003","journal-title":"Eur J Radiol."},{"key":"2024020318045015700_bib15","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1007\/BF02011910","article-title":"Craniocervical abnormalities in osteogenesis imperfecta: genetic and molecular correlation","volume":"24","author":"Sillence","year":"1994","journal-title":"Pediatr Radiol."},{"key":"2024020318045015700_bib16","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/s00223-008-9113-x","article-title":"Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations","volume":"82","author":"Roschger","year":"2008","journal-title":"Calcif Tissue Int."}],"container-title":["Journal of Bone and Mineral Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjbmr.220","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/26\/2\/405\/56559116\/220_ftp.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/26\/2\/405\/56559116\/220_ftp.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T14:51:40Z","timestamp":1710341500000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmr\/article\/26\/2\/405-413\/7598121"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,18]]},"references-count":16,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2010,8,18]]},"published-print":{"date-parts":[[2011,2,1]]}},"URL":"https:\/\/doi.org\/10.1002\/jbmr.220","relation":{},"ISSN":["0884-0431","1523-4681"],"issn-type":[{"value":"0884-0431","type":"print"},{"value":"1523-4681","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2011,2,1]]},"published":{"date-parts":[[2010,8,18]]}}}