{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T09:35:44Z","timestamp":1790847344060,"version":"4.1.0"},"reference-count":61,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,11,3]],"date-time":"2020-11-03T00:00:00Z","timestamp":1604361600000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteogenesis imperfecta (OI) is a relatively common genetic skeletal disorder with an estimated frequency of 1 in 20\u2009000 worldwide. The manifestations are diverse and although individually rare, the several different forms contribute to the production of a significant number of affected individuals with considerable morbidity and mortality. During the last decade, there have been extensive molecular investigations into the etiology of OI and these advances have direct relevance to the medical management of the disorder, and the purpose of this review is to document the history and evolution of the nosology of OI. The current nosology, based on molecular concepts, which are crucial in the identification of genotype\u2010phenotype correlations in persons with OI, is also outlined. The successive revisions of the nosology and classification of OI have highlighted the importance of the nomenclature of the condition in order for it to be recognized by clinicians, scientists and patient advocacy groups. In this way, improved counseling of patients and individualized, tailored therapeutic approaches based on the underlying pathophysiology of the individual's type of OI have been facilitated.<\/jats:p>","DOI":"10.1111\/cge.13846","type":"journal-article","created":{"date-parts":[[2020,9,18]],"date-time":"2020-09-18T07:32:23Z","timestamp":1600414343000},"page":"42-52","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["The evolution of the nosology of osteogenesis imperfecta"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1176-8539","authenticated-orcid":false,"given":"Manogari","family":"Chetty","sequence":"first","affiliation":[{"name":"Faculty of Dentistry University of the Western Cape  Cape Town South Africa"},{"name":"University of the Western Cape\/University of Cape Town Combined Dental Genetics Clinic Red Cross Childrens' Hospital  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6789-5484","authenticated-orcid":false,"given":"Imaan Amina","family":"Roomaney","sequence":"additional","affiliation":[{"name":"Faculty of Dentistry University of the Western Cape  Cape Town South Africa"},{"name":"University of the Western Cape\/University of Cape Town Combined Dental Genetics Clinic Red Cross Childrens' Hospital  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Beighton","sequence":"additional","affiliation":[{"name":"Faculty of Dentistry University of the Western Cape  Cape Town South Africa"},{"name":"Division of Human Genetics, Faculty of Health Sciences University of Cape Town  Cape Town South Africa"},{"name":"University of the Western Cape\/University of Cape Town Combined Dental Genetics Clinic Red Cross Childrens' Hospital  Cape Town South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,3]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000813"},{"key":"e_1_2_8_3_1","first-page":"281","volume-title":"McKusick's Heritable Disorders of Connective Tissue","author":"Beighton P","year":"1993"},{"key":"e_1_2_8_4_1","first-page":"6","article-title":"Osteogenesis imperfecta: historical background","volume":"159","author":"Weil UH","year":"1981","journal-title":"Clin Orthop Rel Res"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.101"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/bdjopen.2017.21"},{"issue":"1","key":"e_1_2_8_7_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41405-019-0014-z","article-title":"Dentinogenesis imperfecta in osteogenesis imperfecta type XI in South Africa: a genotype\u2010phenotype correlation","volume":"5","author":"Chetty M","year":"2019","journal-title":"BDJ Open"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(78)90763-8"},{"issue":"2","key":"e_1_2_8_9_1","first-page":"279","article-title":"Paris nomenclature of constitutional bone disease","volume":"13","author":"Buttenberg H","year":"1972","journal-title":"Radiol Diagn"},{"key":"e_1_2_8_10_1","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1097\/00003086-198109000-00004","article-title":"Osteogenesis imperfecta: an expanding panorama of variants","volume":"159","author":"Sillence DO","year":"1981","journal-title":"Clin Orthop Rel Res"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1988.tb55311.x"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/304078a0"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440220"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10828"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)16051-0"},{"key":"e_1_2_8_16_1","unstructured":"Steiner R.D. Pepin M.G. Byers P.H.2005. Osteogenesis Imperfecta. GeneReviews NCBI Bookshelf ID: NBK1295PMID:20301472."},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33909"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.011"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr037"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2011.44"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21647"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35938"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-013-9723-9"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22274"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2014.05.028"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.02.010"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-154"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jped.2014.05.003"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2011.81"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36545"},{"key":"e_1_2_8_31_1","first-page":"1","article-title":"Nosology and classification of genetic skeletal disorders: 2015 revision","volume":"9999","author":"Bonafe L","year":"2015","journal-title":"Am J Med Genet Part A"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(15)00728-X"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61366"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31483"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.08.008"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.04.021"},{"key":"e_1_2_8_37_1","doi-asserted-by":"crossref","first-page":"11920","DOI":"10.1038\/ncomms11920","article-title":"MBTPS2 mutations cause defective regulated intramembrane proteolysis in X\u2010linked osteogenesis imperfecta","volume":"7","author":"Lindert U","year":"2017","journal-title":"Nat Commun"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.126180"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep40935"},{"issue":"2","key":"e_1_2_8_40_1","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1530\/EJE-16-0990","article-title":"Mechanisms in endocrinology: genetics of human bone formation","volume":"177","author":"Van Hul B","year":"2017","journal-title":"Eur J Endocrinol"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-45"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1215458"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00774-015-0667-1"},{"issue":"20","key":"e_1_2_8_44_1","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1359\/JBMR.050101","article-title":"Heterozygous mutations in the LDL receptor\u2010related protein 5 (LRP5) gene are associated with primary osteoporosis in children","volume":"5","author":"Hartikka H","year":"2005","journal-title":"J Bone Miner Res"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/boneres.2016.9"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2355"},{"key":"e_1_2_8_47_1","first-page":"1","article-title":"The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort","author":"Fernandes AM","year":"2020","journal-title":"Osteoporos Int"},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.005"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12409"},{"key":"e_1_2_8_50_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-016-3653-0"},{"key":"e_1_2_8_51_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.52"},{"key":"e_1_2_8_52_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2000.15.9.1650"},{"key":"e_1_2_8_53_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-017-4143-8"},{"key":"e_1_2_8_54_1","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1016\/j.cca.2018.05.048","article-title":"Genotype\u2010phenotype correlation among Malaysian patients with osteogenesis imperfecta","volume":"484","author":"MohdNawawi N","year":"2018","journal-title":"Clin Chim Acta"},{"key":"e_1_2_8_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2018.02.029"},{"key":"e_1_2_8_56_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-016-3709-1"},{"key":"e_1_2_8_57_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.81"},{"key":"e_1_2_8_58_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0373-x"},{"key":"e_1_2_8_59_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.331"},{"key":"e_1_2_8_60_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/25.1.181"},{"key":"e_1_2_8_61_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.1.253"},{"issue":"1","key":"e_1_2_8_62_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1471-2350-15-45","article-title":"COL1A1 and miR\u201029b show lower expression levels during osteoblast differentiation of bone marrow stromal cells from Osteogenesis Imperfecta patients","volume":"15","author":"Kaneto CM","year":"2014","journal-title":"BMC medical genetics"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13846","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13846","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13846","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13846","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,3]],"date-time":"2023-09-03T13:44:04Z","timestamp":1693748644000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13846"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,3]]},"references-count":61,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["10.1111\/cge.13846"],"URL":"https:\/\/doi.org\/10.1111\/cge.13846","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,3]]},"assertion":[{"value":"2020-06-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-04","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-03","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}