{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T04:48:14Z","timestamp":1793249294581,"version":"4.5.0"},"reference-count":29,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T00:00:00Z","timestamp":1759881600000},"content-version":"vor","delay-in-days":280,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","award":["111299"],"award-info":[{"award-number":["111299"]}],"id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","award":["684-692"],"award-info":[{"award-number":["684-692"]}],"id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","award":["1070"],"award-info":[{"award-number":["1070"]}],"id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","award":["32891212"],"award-info":[{"award-number":["32891212"]}],"id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","award":["10257"],"award-info":[{"award-number":["10257"]}],"id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","award":["10252"],"award-info":[{"award-number":["10252"]}],"id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","award":["2031541-5"],"award-info":[{"award-number":["2031541-5"]}],"id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","award":["2032074-2"],"award-info":[{"award-number":["2032074-2"]}],"id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008484","name":"BioMarin Pharmaceutical","doi-asserted-by":"publisher","award":["2015-003836-11"],"award-info":[{"award-number":["2015-003836-11"]}],"id":[{"id":"10.13039\/100008484","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["159920"],"award-info":[{"award-number":["159920"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008459","name":"University of Calgary","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008459","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010785","name":"Canada First Research Excellence Fund","doi-asserted-by":"publisher","award":["REB15-1342"],"award-info":[{"award-number":["REB15-1342"]}],"id":[{"id":"10.13039\/501100010785","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010785","name":"Canada First Research Excellence Fund","doi-asserted-by":"publisher","award":["REB14-0340"],"award-info":[{"award-number":["REB14-0340"]}],"id":[{"id":"10.13039\/501100010785","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010785","name":"Canada First Research Excellence Fund","doi-asserted-by":"publisher","award":["2022-00015"],"award-info":[{"award-number":["2022-00015"]}],"id":[{"id":"10.13039\/501100010785","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","award":["1U01DE024440"],"award-info":[{"award-number":["1U01DE024440"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","gimopen.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine Open"],"published-print":{"date-parts":[[2025]]},"DOI":"10.1016\/j.gimo.2025.103463","type":"journal-article","created":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T17:08:42Z","timestamp":1760548122000},"page":"103463","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Three-dimensional craniofacial imaging in children with achondroplasia treated with vosoritide"],"prefix":"10.1016","volume":"3","author":[{"given":"Hanne","family":"Hoskens","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. David","family":"Aponte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cassidy","family":"Da Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Trevor","family":"Coward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7192-9103","authenticated-orcid":false,"given":"Benedikt","family":"Hallgr\u00edmsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melita","family":"Irving","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.gimo.2025.103463_bib1","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1002\/ajmg.a.63132","article-title":"Nosology of genetic skeletal disorders: 2023 revision","volume":"191","author":"Unger","year":"2023","journal-title":"Am J Med Genet A"},{"issue":"9582","key":"10.1016\/j.gimo.2025.103463_bib2","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/S0140-6736(07)61090-3","article-title":"Achondroplasia","volume":"370","author":"Horton","year":"2007","journal-title":"Lancet"},{"issue":"2","key":"10.1016\/j.gimo.2025.103463_bib3","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/0092-8674(94)90302-6","article-title":"Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia","volume":"78","author":"Shiang","year":"1994","journal-title":"Cell"},{"issue":"2","key":"10.1016\/j.gimo.2025.103463_bib4","first-page":"368","article-title":"Achondroplasia is defined by recurrent G380R mutations of FGFR3","volume":"56","author":"Bellus","year":"1995","journal-title":"Am J Hum Genet"},{"issue":"4","key":"10.1016\/j.gimo.2025.103463_bib5","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1002\/dvdy.24479","article-title":"Achondroplasia: development, pathogenesis, and therapy","volume":"246","author":"Ornitz","year":"2017","journal-title":"Dev Dyn"},{"key":"10.1016\/j.gimo.2025.103463_bib6","doi-asserted-by":"crossref","DOI":"10.1016\/j.bone.2022.116472","article-title":"Comprehensive literature review on the prevalence of comorbid conditions in patients with achondroplasia","volume":"162","author":"Stender","year":"2022","journal-title":"Bone"},{"key":"10.1016\/j.gimo.2025.103463_bib7","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1159\/000439334","article-title":"C-type natriuretic peptide analog as therapy for achondroplasia","volume":"30","author":"Legeai-Mallet","year":"2016","journal-title":"Endocr Dev"},{"issue":"1","key":"10.1016\/j.gimo.2025.103463_bib8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13023-018-0972-6","article-title":"Achondroplasia: a comprehensive clinical review","volume":"14","author":"Pauli","year":"2019","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"10.1016\/j.gimo.2025.103463_bib9","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1016\/j.ajhg.2012.10.014","article-title":"Evaluation of the therapeutic potential of a CNP analog in a FGFR3 mouse model recapitulating achondroplasia","volume":"91","author":"Lorget","year":"2012","journal-title":"Am J Hum Genet"},{"issue":"9","key":"10.1016\/j.gimo.2025.103463_bib10","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.141426","article-title":"Phosphatase inhibition by LB-100 enhances BMN-111 stimulation of bone growth","volume":"6","author":"Shuhaibar","year":"2021","journal-title":"JCI Insight"},{"issue":"1","key":"10.1016\/j.gimo.2025.103463_bib11","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1056\/NEJMoa1813446","article-title":"C-type natriuretic peptide analogue therapy in children with achondroplasia","volume":"381","author":"Savarirayan","year":"2019","journal-title":"N Engl J Med"},{"issue":"10252","key":"10.1016\/j.gimo.2025.103463_bib12","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1016\/S0140-6736(20)31541-5","article-title":"Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial","volume":"396","author":"Savarirayan","year":"2020","journal-title":"Lancet"},{"issue":"1","key":"10.1016\/j.gimo.2025.103463_bib13","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/S2352-4642(23)00265-1","article-title":"Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial","volume":"8","author":"Savarirayan","year":"2024","journal-title":"Lancet Child Adolesc Health"},{"issue":"3","key":"10.1016\/j.gimo.2025.103463_bib14","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/j.ijporl.2005.07.016","article-title":"Sleep disordered breathing in children with achondroplasia. Part 2. Relationship with craniofacial and airway morphology","volume":"70","author":"Onodera","year":"2006","journal-title":"Int J Pediatr Otorhinolaryngol"},{"issue":"2","key":"10.1016\/j.gimo.2025.103463_bib15","doi-asserted-by":"crossref","first-page":"173","DOI":"10.2334\/josnusd.49.173","article-title":"Surgical treatment for sleep apnea: changes in craniofacial and pharyngeal airway morphology in a child with achondroplasia","volume":"49","author":"Sato","year":"2007","journal-title":"J Oral Sci"},{"issue":"1","key":"10.1016\/j.gimo.2025.103463_bib16","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1186\/s13023-023-02664-y","article-title":"Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients","volume":"18","author":"Morice","year":"2023","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"10.1016\/j.gimo.2025.103463_bib17","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1016\/S0022-3476(84)81092-6","article-title":"Apnea and sudden unexpected death in infants with achondroplasia","volume":"104","author":"Pauli","year":"1984","journal-title":"J Pediatr"},{"issue":"3","key":"10.1016\/j.gimo.2025.103463_bib18","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1038\/s41574-021-00595-x","article-title":"International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia","volume":"18","author":"Savarirayan","year":"2022","journal-title":"Nat Rev Endocrinol"},{"issue":"17","key":"10.1016\/j.gimo.2025.103463_bib19","doi-asserted-by":"crossref","first-page":"2057","DOI":"10.1007\/s40265-021-01623-w","article-title":"Vosoritide: first approval","volume":"81","author":"Duggan","year":"2021","journal-title":"Drugs"},{"issue":"10","key":"10.1016\/j.gimo.2025.103463_bib20","doi-asserted-by":"crossref","first-page":"1682","DOI":"10.1038\/s41436-020-0845-y","article-title":"Automated syndrome diagnosis by three-dimensional facial imaging","volume":"22","author":"Hallgr\u00edmsson","year":"2020","journal-title":"Genet Med"},{"issue":"6","key":"10.1016\/j.gimo.2025.103463_bib21","doi-asserted-by":"crossref","first-page":"e185","DOI":"10.1597\/15-199","article-title":"The 3D facial norms database: part 1. A web-based craniofacial anthropometric and image repository for the clinical and research community","volume":"53","author":"Weinberg","year":"2016","journal-title":"Cleft Palate Craniofac J"},{"issue":"1","key":"10.1016\/j.gimo.2025.103463_bib22","doi-asserted-by":"crossref","first-page":"6085","DOI":"10.1038\/s41598-019-42533-y","article-title":"MeshMonk: open-source large-scale intensive 3D phenotyping","volume":"9","author":"White","year":"2019","journal-title":"Sci Rep"},{"issue":"1","key":"10.1016\/j.gimo.2025.103463_bib23","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.ajhg.2023.11.011","article-title":"An interactive atlas of three-dimensional syndromic facial morphology","volume":"111","author":"Aponte","year":"2024","journal-title":"Am J Hum Genet"},{"issue":"3","key":"10.1016\/j.gimo.2025.103463_bib24","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1136\/jmedgenet-2021-108366","article-title":"Refining nosology by modelling variation among facial phenotypes: the RASopathies","volume":"60","author":"Matthews","year":"2023","journal-title":"J Med Genet"},{"issue":"3","key":"10.1016\/j.gimo.2025.103463_bib25","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1177\/147323000303100311","article-title":"Oral findings in a typical case of achondroplasia","volume":"31","author":"Celenk","year":"2003","journal-title":"J Int Med Res"},{"issue":"8","key":"10.1016\/j.gimo.2025.103463_bib26","first-page":"5","article-title":"Achondroplasia: general description and dental problems","volume":"10","author":"Brewer","year":"1979","journal-title":"Quintessence Int Dent Dig"},{"issue":"1","key":"10.1016\/j.gimo.2025.103463_bib27","doi-asserted-by":"crossref","DOI":"10.1038\/s41467-024-54839-1","article-title":"Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population","volume":"15","author":"Vanneste","year":"2024","journal-title":"Nat Commun"},{"issue":"1630","key":"10.1016\/j.gimo.2025.103463_bib28","first-page":"71","article-title":"The pace of morphological change: historical transformation of skull shape in St Bernard dogs","volume":"275","author":"Drake","year":"2008","journal-title":"Proc Biol Sci"},{"issue":"4","key":"10.1016\/j.gimo.2025.103463_bib29","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/j.ajodo.2015.09.028","article-title":"Facial surface morphology predicts variation in internal skeletal shape","volume":"149","author":"Young","year":"2016","journal-title":"Am J Orthod Dentofacial Orthop"}],"container-title":["Genetics in Medicine Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S294977442501502X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S294977442501502X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T12:57:48Z","timestamp":1778936268000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S294977442501502X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":29,"alternative-id":["S294977442501502X"],"URL":"https:\/\/doi.org\/10.1016\/j.gimo.2025.103463","relation":{},"ISSN":["2949-7744"],"issn-type":[{"value":"2949-7744","type":"print"}],"subject":[],"published":{"date-parts":[[2025]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Three-dimensional craniofacial imaging in children with achondroplasia treated with vosoritide","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine Open","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gimo.2025.103463","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.","name":"copyright","label":"Copyright"}],"article-number":"103463"}}