{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T09:46:44Z","timestamp":1779184004154,"version":"3.51.4"},"reference-count":37,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,10,19]],"date-time":"2022-10-19T00:00:00Z","timestamp":1666137600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,10,19]],"date-time":"2022-10-19T00:00:00Z","timestamp":1666137600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81970757"],"award-info":[{"award-number":["81970757"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Chinese National Key Technology R & D Program, Ministry of Science and Technology","award":["2021YFC2501700"],"award-info":[{"award-number":["2021YFC2501700"]}]},{"name":"Chinese Academy of Medical Sciences-CAMS Innovation Fund for Medical Sciences","award":["CIFMS-2021\u201312M-1\u2013002"],"award-info":[{"award-number":["CIFMS-2021\u201312M-1\u2013002"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Calcif Tissue Int"],"DOI":"10.1007\/s00223-022-01027-2","type":"journal-article","created":{"date-parts":[[2022,10,20]],"date-time":"2022-10-20T11:06:51Z","timestamp":1666264011000},"page":"13-23","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Evaluation of Volumetric Bone Mineral Density, Bone Microarchitecture, and Bone Strength in Patients with Achondroplasia Caused by FGFR3 c.1138G\u2009&gt;\u2009A Mutation"],"prefix":"10.1007","volume":"112","author":[{"given":"Hanting","family":"Liang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenting","family":"Qi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chenxi","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qianqian","family":"Pang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ou","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoping","family":"Xing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Pan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7768-5536","authenticated-orcid":false,"given":"Weibo","family":"Xia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,10,19]]},"reference":[{"key":"1027_CR1","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1002\/dvdy.24479","volume":"246","author":"DM Ornitz","year":"2017","unstructured":"Ornitz DM, Legeai-Mallet L (2017) Achondroplasia: development, pathogenesis, and therapy. Dev Dyn 246:291\u2013309","journal-title":"Dev Dyn"},{"key":"1027_CR2","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1016\/0092-8674(94)90302-6","volume":"78","author":"R Shiang","year":"1994","unstructured":"Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, Winokur ST, Wasmuth JJ (1994) Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 78:335\u2013342","journal-title":"Cell"},{"key":"1027_CR3","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1038\/371252a0","volume":"371","author":"F Rousseau","year":"1994","unstructured":"Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet JM, Maroteaux P, Le Merrer M, Munnich A (1994) Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature 371:252\u2013254","journal-title":"Nature"},{"key":"1027_CR4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-018-0972-6","volume":"14","author":"RM Pauli","year":"2019","unstructured":"Pauli RM (2019) Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis 14:1","journal-title":"Orphanet J Rare Dis"},{"key":"1027_CR5","doi-asserted-by":"crossref","first-page":"1791","DOI":"10.1002\/ajmg.a.61289","volume":"179","author":"A Coi","year":"2019","unstructured":"Coi A, Santoro M, Garne E, Pierini A, Addor MC, Alessandri JL, Bergman JEH, Bianchi F, Boban L, Braz P, Cavero-Carbonell C, Gatt M, Haeusler M, Klungs\u00f8yr K, Kurinczuk JJ, Lanzoni M, Lelong N, Luyt K, Mokoroa O, Mullaney C, Nelen V, Neville AJ, O\u2019Mahony MT, Perthus I, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wisniewska K, Zymak-Zakutnia N, Bari\u0161i\u0107 I (2019) Epidemiology of achondroplasia: a population-based study in Europe. Am J Med Genet A 179:1791\u20131798","journal-title":"Am J Med Genet A"},{"key":"1027_CR6","volume-title":"GeneReviews(\u00ae)","author":"JM Legare","year":"1993","unstructured":"Legare JM (1993) Achondroplasia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A (eds) GeneReviews(\u00ae). University of Washington, Seattle"},{"key":"1027_CR7","unstructured":"McDonald EJ, De Jesus O (2021) Achondroplasia. In: StatPearls. StatPearls Publishing, Treasure Island"},{"key":"1027_CR8","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1007\/s10354-020-00741-6","volume":"170","author":"W H\u00f6gler","year":"2020","unstructured":"H\u00f6gler W, Ward LM (2020) New developments in the management of achondroplasia. Wien Med Wochenschr 170:104\u2013111","journal-title":"Wien Med Wochenschr"},{"key":"1027_CR9","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1007\/s10067-012-2126-x","volume":"32","author":"ES Arita","year":"2013","unstructured":"Arita ES, Pippa MG, Marcucci M, Cardoso R, Cortes AR, Watanabe PC, Oliveira JX (2013) Assessment of osteoporotic alterations in achondroplastic patients: a case series. Clin Rheumatol 32:399\u2013402","journal-title":"Clin Rheumatol"},{"key":"1027_CR10","doi-asserted-by":"publisher","first-page":"705","DOI":"10.1111\/ped.12890","volume":"58","author":"M Matsushita","year":"2016","unstructured":"Matsushita M, Kitoh H, Mishima K, Kadono I, Sugiura H, Hasegawa S, Nishida Y, Ishiguro N (2016) Low bone mineral density in achondroplasia and hypochondroplasia. Pediatr Int 58:705\u2013708","journal-title":"Pediatr Int"},{"key":"1027_CR11","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0213806","volume":"14","author":"D Sims","year":"2019","unstructured":"Sims D, Onamb\u00e9l\u00e9-Pearson G, Burden A, Payton C, Morse C (2019) Whole-body and segmental analysis of body composition in adult males with achondroplasia using dual X-ray absorptiometry. PLoS ONE 14:e0213806","journal-title":"PLoS ONE"},{"key":"1027_CR12","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1016\/j.bone.2017.05.021","volume":"104","author":"JJ Carey","year":"2017","unstructured":"Carey JJ, Delaney MF (2017) Utility of DXA for monitoring, technical aspects of DXA BMD measurement and precision testing. Bone 104:44\u201353","journal-title":"Bone"},{"key":"1027_CR13","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1038\/nrendo.2012.217","volume":"9","author":"JE Adams","year":"2013","unstructured":"Adams JE (2013) Advances in bone imaging for osteoporosis. Nat Rev Endocrinol 9:28\u201342","journal-title":"Nat Rev Endocrinol"},{"key":"1027_CR14","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1007\/s11914-013-0142-7","volume":"11","author":"KK Nishiyama","year":"2013","unstructured":"Nishiyama KK, Shane E (2013) Clinical imaging of bone microarchitecture with HR-pQCT. Curr Osteoporos Rep 11:147\u2013155","journal-title":"Curr Osteoporos Rep"},{"key":"1027_CR15","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2019.115211","volume":"132","author":"AS Dash","year":"2020","unstructured":"Dash AS, Agarwal S, McMahon DJ, Cosman F, Nieves J, Bucovsky M, Guo XE, Shane E, Stein EM (2020) Abnormal microarchitecture and stiffness in postmenopausal women with isolated osteoporosis at the 1\/3 radius. Bone 132:115211","journal-title":"Bone"},{"key":"1027_CR16","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1111\/cen.14533","volume":"95","author":"DAB Mendes","year":"2021","unstructured":"Mendes DAB, Coelho MCA, Gehrke B, de Pinho LKJ, Cardoso Lima LF, Paranhos-Neto F, de Mendon\u00e7a LMC, Farias MLF, Madeira M (2021) Microarchitectural parameters and bone mineral density in patients with tumour-induced osteomalacia by HR-pQCT and DXA. Clin Endocrinol 95:587\u2013594","journal-title":"Clin Endocrinol"},{"key":"1027_CR17","doi-asserted-by":"publisher","first-page":"2335","DOI":"10.1002\/jbmr.4138","volume":"35","author":"L Folkestad","year":"2020","unstructured":"Folkestad L, Groth KA, Shanbhogue V, Hove H, Kyhl K, \u00d8stergaard JR, J\u00f8rgensen NR, Andersen NH, Gravholt CH (2020) Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with Marfan syndrome assessed by HR-pQCT. J Bone Miner Res 35:2335\u20132344","journal-title":"J Bone Miner Res"},{"key":"1027_CR18","first-page":"487","volume":"47","author":"H Li","year":"2009","unstructured":"Li H, Ji C, Zong X, Zhang Y (2009) Height and weight standardized growth charts for Chinese children and adolescents aged 0 to 18 years. Chin J Pediatr 47:487\u2013492","journal-title":"Chin J Pediatr"},{"key":"1027_CR19","doi-asserted-by":"publisher","first-page":"792","DOI":"10.1016\/j.medengphy.2007.11.003","volume":"30","author":"JA MacNeil","year":"2008","unstructured":"MacNeil JA, Boyd SK (2008) Improved reproducibility of high-resolution peripheral quantitative computed tomography for measurement of bone quality. Med Eng Phys 30:792\u2013799","journal-title":"Med Eng Phys"},{"key":"1027_CR20","doi-asserted-by":"publisher","first-page":"2159","DOI":"10.1002\/jbmr.4116","volume":"35","author":"F Yu","year":"2020","unstructured":"Yu F, Xu Y, Hou Y, Lin Y, Jiajue R, Jiang Y, Wang O, Li M, Xing X, Zhang L, Qin L, Hsieh E, Xia W (2020) Age-, site-, and sex-specific normative centile curves for HR-pQCT-derived microarchitectural and bone strength parameters in a Chinese Mainland population. J Bone Miner Res 35:2159\u20132170","journal-title":"J Bone Miner Res"},{"key":"1027_CR21","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1016\/j.bone.2007.07.007","volume":"41","author":"HR Buie","year":"2007","unstructured":"Buie HR, Campbell GM, Klinck RJ, MacNeil JA, Boyd SK (2007) Automatic segmentation of cortical and trabecular compartments based on a dual threshold technique for in vivo micro-CT bone analysis. Bone 41:505\u2013515","journal-title":"Bone"},{"key":"1027_CR22","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1016\/j.bone.2010.05.034","volume":"47","author":"AJ Burghardt","year":"2010","unstructured":"Burghardt AJ, Buie HR, Laib A, Majumdar S, Boyd SK (2010) Reproducibility of direct quantitative measures of cortical bone microarchitecture of the distal radius and tibia by HR-pQCT. Bone 47:519\u2013528","journal-title":"Bone"},{"key":"1027_CR23","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1016\/j.bone.2015.06.006","volume":"79","author":"SL Manske","year":"2015","unstructured":"Manske SL, Zhu Y, Sandino C, Boyd SK (2015) Human trabecular bone microarchitecture can be assessed independently of density with second generation HR-pQCT. Bone 79:213\u2013221","journal-title":"Bone"},{"key":"1027_CR24","doi-asserted-by":"publisher","first-page":"1167","DOI":"10.1359\/jbmr.1999.14.7.1167","volume":"14","author":"T Hildebrand","year":"1999","unstructured":"Hildebrand T, Laib A, M\u00fcller R, Dequeker J, R\u00fcegsegger P (1999) Direct three-dimensional morphometric analysis of human cancellous bone: microstructural data from spine, femur, iliac crest, and calcaneus. J Bone Miner Res 14:1167\u20131174","journal-title":"J Bone Miner Res"},{"key":"1027_CR25","doi-asserted-by":"publisher","first-page":"842","DOI":"10.1016\/S8756-3282(02)00736-6","volume":"30","author":"W Pistoia","year":"2002","unstructured":"Pistoia W, van Rietbergen B, Lochm\u00fcller EM, Lill CA, Eckstein F, R\u00fcegsegger P (2002) Estimation of distal radius failure load with micro-finite element analysis models based on three-dimensional peripheral quantitative computed tomography images. Bone 30:842\u2013848","journal-title":"Bone"},{"key":"1027_CR26","doi-asserted-by":"crossref","unstructured":"Ajmal M, Mir A, Shoaib M, Malik SA, Nasir M (2017) Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family. Diagn Pathol 12:47","DOI":"10.1186\/s13000-017-0642-3"},{"key":"1027_CR27","doi-asserted-by":"publisher","unstructured":"Liang H, Qi W, Jin C, Pang Q, Liu W, Jiang Y, Wang O, Li M, Xing X, Pan H, Xia W. Data from: evaluation of volumetric bone mineral density, bone microarchitecture and bone strength in patients with achondroplasia caused by FGFR3 c.1138G>A mutation. figshare. Dataset. https:\/\/doi.org\/10.6084\/m9.figshare.19071713.v1","DOI":"10.6084\/m9.figshare.19071713.v1"},{"key":"1027_CR28","doi-asserted-by":"publisher","first-page":"R2","DOI":"10.1093\/hmg\/ddv419","volume":"25","author":"KA Klag","year":"2016","unstructured":"Klag KA, Horton WA (2016) Advances in treatment of achondroplasia and osteoarthritis. Hum Mol Genet 25:R2-8","journal-title":"Hum Mol Genet"},{"key":"1027_CR29","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1891\/0730-0832.36.6.337","volume":"36","author":"A Daugherty","year":"2017","unstructured":"Daugherty A (2017) Achondroplasia: etiology, clinical presentation, and management. Neonatal Netw 36:337\u2013342","journal-title":"Neonatal Netw"},{"key":"1027_CR30","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1002\/pd.5653","volume":"40","author":"J Han","year":"2020","unstructured":"Han J, Yang YD, He Y, Liu WJ, Zhen L, Pan M, Yang X, Zhang VW, Liao C, Li DZ (2020) Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: benefit for prenatal counseling and pregnancy management. Prenat Diagn 40:577\u2013584","journal-title":"Prenat Diagn"},{"key":"1027_CR31","first-page":"461","volume":"58","author":"WQ Dai","year":"2020","unstructured":"Dai WQ, Gu XF, Yu YG (2020) Exploring the clinical genetic characteristics and height for age growth curve of 210 patients with achondroplasia in China. Zhonghua Er Ke Za Zhi 58:461\u2013467","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"1027_CR32","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1385\/JCD:2:2:185","volume":"2","author":"GN Rao","year":"1999","unstructured":"Rao GN, Greger NG, Nelson DA (1999) Whole body bone mass and body composition in a girl with achondroplasia, at ages 9 through 12. J Clin Densitom 2:185\u2013190","journal-title":"J Clin Densitom"},{"key":"1027_CR33","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.1002\/ajmg.a.62055","volume":"185","author":"OM de Vries","year":"2021","unstructured":"de Vries OM, Johansen H, Fredwall SO (2021) Physical fitness and activity level in Norwegian adults with achondroplasia. Am J Med Genet A 185:1023\u20131032","journal-title":"Am J Med Genet A"},{"key":"1027_CR34","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1002\/jor.23608","volume":"36","author":"T Okura","year":"2018","unstructured":"Okura T, Matsushita M, Mishima K, Esaki R, Seki T, Ishiguro N, Kitoh H (2018) Activated FGFR3 prevents subchondral bone sclerosis during the development of osteoarthritis in transgenic mice with achondroplasia. J Orthop Res 36:300\u2013308","journal-title":"J Orthop Res"},{"key":"1027_CR35","doi-asserted-by":"publisher","first-page":"1254","DOI":"10.7150\/ijbs.21258","volume":"13","author":"H Chen","year":"2017","unstructured":"Chen H, Sun X, Yin L, Chen S, Zhu Y, Huang J, Jiang W, Chen B, Zhang R, Chen L, Nie M, Xie Y, Deng Z (2017) PTH 1\u201334 ameliorates the osteopenia and delayed healing of stabilized tibia fracture in mice with achondroplasia resulting from gain-of-function mutation of FGFR3. Int J Biol Sci 13:1254\u20131265","journal-title":"Int J Biol Sci"},{"key":"1027_CR36","doi-asserted-by":"publisher","first-page":"e12740","DOI":"10.1111\/ecc.12740","volume":"26","author":"P Katsimbri","year":"2017","unstructured":"Katsimbri P (2017) The biology of normal bone remodelling. Eur J Cancer Care 26:e12740","journal-title":"Eur J Cancer Care"},{"key":"1027_CR37","unstructured":"Rowe P, Koller A, Sharma S (2021) Physiology, bone remodeling. In: StatPearls. StatPearls Publishing, Treasure Island"}],"container-title":["Calcified Tissue International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-022-01027-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00223-022-01027-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-022-01027-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,29]],"date-time":"2023-11-29T08:09:06Z","timestamp":1701245346000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00223-022-01027-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,10,19]]},"references-count":37,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,1]]}},"alternative-id":["1027"],"URL":"https:\/\/doi.org\/10.1007\/s00223-022-01027-2","relation":{},"ISSN":["1432-0827"],"issn-type":[{"value":"1432-0827","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,10,19]]},"assertion":[{"value":"20 April 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 September 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 October 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Hanting Liang, Wenting Qi, Chenxi Jin, Qianqian Pang, Wei Liu, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Hui Pan, and Weibo Xia declares no competing interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The study was performed with the approval of the Ethics Committee of Peking Union Medical College Hospital (JS-1689).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}},{"value":"All of the subjects agreed to participate in this study and signed informed consent forms.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed Consent"}},{"value":"All of the authors agreed to publish the manuscript.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Publication"}}]}}