{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T01:46:35Z","timestamp":1793065595803,"version":"4.5.0"},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T00:00:00Z","timestamp":1772236800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"},{"start":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T00:00:00Z","timestamp":1772236800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"funder":[{"name":"BridgeBio Pharma"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Adv Ther"],"published-print":{"date-parts":[[2026,5]]},"DOI":"10.1007\/s12325-026-03526-2","type":"journal-article","created":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T08:28:47Z","timestamp":1772267327000},"page":"2018-2033","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia"],"prefix":"10.1007","volume":"43","author":[{"given":"Melita","family":"Irving","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Greco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Cocca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Dauber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander Augusto de Lima","family":"Jorge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svein","family":"Fredwall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Patterson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Juan","family":"Llerena","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiichi","family":"Ozono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Kelly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Muslimova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tejaswini","family":"Reddi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren\u00e9e","family":"Shediac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ravi","family":"Savarirayan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. Reid","family":"Sutton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Hoover-Fong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moira","family":"Cheung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,2,28]]},"reference":[{"key":"3526_CR1","volume-title":"GeneReviews(\u00ae) [Internet]","author":"MB Bober","year":"1999","unstructured":"Bober MB, Bellus GA, Cheung MS, et al. Hypochondroplasia. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors., et al., GeneReviews(\u00ae) [Internet]. Seattle: University of Washington; 1999."},{"issue":"3","key":"3526_CR2","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1038\/ng0795-357","volume":"10","author":"GA Bellus","year":"1995","unstructured":"Bellus GA, McIntosh I, Smith EA, et al. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet. 1995;10(3):357\u20139. https:\/\/doi.org\/10.1038\/ng0795-357.","journal-title":"Nat Genet"},{"issue":"12","key":"3526_CR3","doi-asserted-by":"publisher","first-page":"1240","DOI":"10.1038\/sj.ejhg.5201700","volume":"14","author":"S Heuertz","year":"2006","unstructured":"Heuertz S, Le Merrer M, Zabel B, et al. Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. Eur J Hum Genet. 2006;14(12):1240\u20137. https:\/\/doi.org\/10.1038\/sj.ejhg.5201700.","journal-title":"Eur J Hum Genet"},{"issue":"12","key":"3526_CR4","doi-asserted-by":"publisher","first-page":"3119","DOI":"10.1002\/ajmg.a.35642","volume":"158a","author":"T Linnankivi","year":"2012","unstructured":"Linnankivi T, M\u00e4kitie O, Valanne L, et al. Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. Am J Med Genet A. 2012;158a(12):3119\u201325. https:\/\/doi.org\/10.1002\/ajmg.a.35642.","journal-title":"Am J Med Genet A"},{"issue":"3","key":"3526_CR5","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1055\/a-1988-9734","volume":"131","author":"HY Kim","year":"2023","unstructured":"Kim HY, Lee YA, Shin CH, et al. Clinical manifestations and outcomes of 20 Korean hypochondroplasia patients with the FGFR3 N540K variant. Exp Clin Endocrinol Diabetes. 2023;131(3):123\u201331. https:\/\/doi.org\/10.1055\/a-1988-9734.","journal-title":"Exp Clin Endocrinol Diabetes"},{"issue":"1","key":"3526_CR6","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1016\/j.braindev.2016.07.004","volume":"39","author":"T Okazaki","year":"2017","unstructured":"Okazaki T, Saito Y, Ueda R, et al. Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis. Brain Dev. 2017;39(1):67\u201371. https:\/\/doi.org\/10.1016\/j.braindev.2016.07.004.","journal-title":"Brain Dev"},{"key":"3526_CR7","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2021.108479","volume":"126","author":"M Ahmadi","year":"2022","unstructured":"Ahmadi M, Herting A, Mueffelmann B, et al. Hypochondroplasia and temporal lobe epilepsy - a series of 4 cases. Epilepsy Behav. 2022;126:108479. https:\/\/doi.org\/10.1016\/j.yebeh.2021.108479.","journal-title":"Epilepsy Behav"},{"issue":"11","key":"3526_CR8","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.1515\/jpem-2018-0046","volume":"31","author":"MA Arenas","year":"2018","unstructured":"Arenas MA, Del Pino M, Fano V. FGFR3-related hypochondroplasia: longitudinal growth in 57 children with the p.Asn540Lys mutation. J Pediatr Endocrinol Metab. 2018;31(11):1279\u201384. https:\/\/doi.org\/10.1515\/jpem-2018-0046.","journal-title":"J Pediatr Endocrinol Metab"},{"issue":"2","key":"3526_CR9","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1002\/ajmg.a.63431","volume":"194","author":"MS Cheung","year":"2024","unstructured":"Cheung MS, Cole TJ, Arundel P, et al. Growth reference charts for children with hypochondroplasia. Am J Med Genet A. 2024;194(2):243\u201352. https:\/\/doi.org\/10.1002\/ajmg.a.63431.","journal-title":"Am J Med Genet A"},{"issue":"1","key":"3526_CR10","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-025-04069-5","volume":"20","author":"G Baujat","year":"2025","unstructured":"Baujat G, Hamandjian MA, Jannot AS, et al. Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis. Orphanet J Rare Dis. 2025;20(1):555. https:\/\/doi.org\/10.1186\/s13023-025-04069-5.","journal-title":"Orphanet J Rare Dis"},{"key":"3526_CR11","first-page":"6","volume":"110","author":"R Lanzafame","year":"2025","unstructured":"Lanzafame R, D\u2019Arco F, Cocca A, et al. Hippocampal malrotation and transverse temporal sulcus abnoramlities: sensitive and specific neuroradiological markers of hypochondroplasia. Endocr Abs. 2025;110:6.","journal-title":"Endocr Abs"},{"issue":"1","key":"3526_CR12","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1002\/ajmg.a.61912","volume":"185","author":"AH Sabir","year":"2021","unstructured":"Sabir AH, Sheikh J, Singh A, et al. Earlier detection of hypochondroplasia: a large single-center UK case series and systematic review. Am J Med Genet A. 2021;185(1):73\u201382. https:\/\/doi.org\/10.1002\/ajmg.a.61912.","journal-title":"Am J Med Genet A"},{"issue":"2","key":"3526_CR13","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1002\/ajmg.a.64266","volume":"200","author":"MS Cheung","year":"2025","unstructured":"Cheung MS, Lanzafame R, Low KJ, et al. The head circumference height index (HCH-I) to\u00a0quantify relative macrocephaly and aid identification of hypochondroplasia in children. Am J Med Genet A. 2025;200(2):353\u20139. https:\/\/doi.org\/10.1002\/ajmg.a.64266.","journal-title":"Am J Med Genet A"},{"key":"3526_CR14","doi-asserted-by":"publisher","DOI":"10.1016\/j.eclinm.2024.102591","volume":"71","author":"A Dauber","year":"2024","unstructured":"Dauber A, Zhang A, Kanakatti Shankar R, et al. Vosoritide treatment for children with hypochondroplasia: a phase 2 trial. EClinicalMedicine. 2024;71:102591. https:\/\/doi.org\/10.1016\/j.eclinm.2024.102591.","journal-title":"EClinicalMedicine"},{"key":"3526_CR15","unstructured":"BioMarin Pharmaceutical. Interventional study of vosoritide for the treatment of children with hypochondroplasia (CANOPY-HCH-3). ClinicalTrials.gov identifier: NCT06873035. Accessed December 11, 2025. https:\/\/clinicaltrials.gov\/study\/NCT06455059."},{"key":"3526_CR16","unstructured":"BioMarin Pharmaceutical. Long-term extension study of vosoritide to treat children with hypochondroplasia (CANOPY-HCH-EXT). ClinicalTrials.gov identifier: NCT07073014 Accessed December 11, 2025. https:\/\/www.clinicaltrials.gov\/study\/NCT07073014."},{"key":"3526_CR17","unstructured":"BioMarin Pharmaceutical. A study of vosoritide versus placebo in children with hypochondroplasia aged 0 to <36 months. ClinicalTrials.gov identifier: NCT07126262. Accessed December 11, 2025. https:\/\/clinicaltrials.gov\/study\/NCT07126262."},{"key":"3526_CR18","unstructured":"QED Therapeutics. An interventional study of infigratinib in children with hypochondroplasia (HCH). ClinicalTrials.gov identifier: NCT06873035. Accessed December 11, 2025. https:\/\/clinicaltrials.gov\/study\/NCT06873035."},{"issue":"1","key":"3526_CR19","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1002\/uog.13339","volume":"44","author":"A Khalil","year":"2014","unstructured":"Khalil A, Morales-Rosell\u00f3 J, Morlando M, et al. Widening of the femoral proximal diaphysis--metaphysis angle in fetuses with achondroplasia. Ultrasound Obstet Gynecol. 2014;44(1):69\u201375. https:\/\/doi.org\/10.1002\/uog.13339.","journal-title":"Ultrasound Obstet Gynecol"},{"issue":"7","key":"3526_CR20","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1002\/pd.2280","volume":"29","author":"S Boulet","year":"2009","unstructured":"Boulet S, Althuser M, Nugues F, et al. Prenatal diagnosis of achondroplasia: new specific signs. Prenat Diagn. 2009;29(7):697\u2013702. https:\/\/doi.org\/10.1002\/pd.2280.","journal-title":"Prenat Diagn"},{"issue":"4","key":"3526_CR21","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1007\/s00247-015-3518-2","volume":"46","author":"T Saito","year":"2016","unstructured":"Saito T, Nagasaki K, Nishimura G, et al. Criteria for radiologic diagnosis of hypochondroplasia in neonates. Pediatr Radiol. 2016;46(4):513\u20138. https:\/\/doi.org\/10.1007\/s00247-015-3518-2.","journal-title":"Pediatr Radiol"},{"issue":"9","key":"3526_CR22","doi-asserted-by":"publisher","first-page":"1072","DOI":"10.1080\/713794579","volume":"89","author":"G Grigelionien\u00e9","year":"2000","unstructured":"Grigelionien\u00e9 G, Ekl\u00f6f O, Laurencikas E, et al. Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia. Acta Paediatr. 2000;89(9):1072\u20136. https:\/\/doi.org\/10.1080\/713794579.","journal-title":"Acta Paediatr"},{"issue":"8","key":"3526_CR23","doi-asserted-by":"publisher","first-page":"807","DOI":"10.1136\/adc.2004.050799","volume":"90","author":"AM Fredriks","year":"2005","unstructured":"Fredriks AM, van Buuren S, van Heel WJ, et al. Nationwide age references for sitting height, leg length, and sitting height\/height ratio, and their diagnostic value for disproportionate growth disorders. Arch Dis Child. 2005;90(8):807\u201312. https:\/\/doi.org\/10.1136\/adc.2004.050799.","journal-title":"Arch Dis Child"},{"key":"3526_CR24","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1016\/j.jpeds.2020.06.051","volume":"226","author":"CP Hawkes","year":"2020","unstructured":"Hawkes CP, Mostoufi-Moab S, McCormack SE, et al. Sitting height to standing height ratio reference charts for children in the United States. J Pediatr. 2020;226:221-227.e215. https:\/\/doi.org\/10.1016\/j.jpeds.2020.06.051.","journal-title":"J Pediatr"},{"issue":"3","key":"3526_CR25","doi-asserted-by":"publisher","first-page":"1291","DOI":"10.1007\/s12325-024-03061-y","volume":"42","author":"J Hoover-Fong","year":"2025","unstructured":"Hoover-Fong J, Semler O, Barron B, et al. Considerations for anthropometry specific to people with disproportionate short stature. Adv Ther. 2025;42(3):1291\u2013311. https:\/\/doi.org\/10.1007\/s12325-024-03061-y.","journal-title":"Adv Ther"},{"issue":"3","key":"3526_CR26","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1007\/s002470000398","volume":"31","author":"C Prinster","year":"2001","unstructured":"Prinster C, Del Maschio M, Beluffi G, et al. Diagnosis of hypochondroplasia: the role of radiological interpretation. Italian Study Group for Hypochondroplasia. Pediatr Radiol. 2001;31(3):203\u20138. https:\/\/doi.org\/10.1007\/s002470000398.","journal-title":"Pediatr Radiol"},{"issue":"2","key":"3526_CR27","first-page":"368","volume":"56","author":"GA Bellus","year":"1995","unstructured":"Bellus GA, Hefferon TW, de Ortiz Luna RI, et al. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Am J Hum Genet. 1995;56(2):368\u201373.","journal-title":"Am J Hum Genet"},{"issue":"6494","key":"3526_CR28","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, et al. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature. 1994;371(6494):252\u20134. https:\/\/doi.org\/10.1038\/371252a0.","journal-title":"Nature"},{"issue":"9582","key":"3526_CR29","doi-asserted-by":"publisher","first-page":"162","DOI":"10.1016\/s0140-6736(07)61090-3","volume":"370","author":"WA Horton","year":"2007","unstructured":"Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007;370(9582):162\u201372. https:\/\/doi.org\/10.1016\/s0140-6736(07)61090-3.","journal-title":"Lancet"},{"issue":"2","key":"3526_CR30","doi-asserted-by":"publisher","first-page":"380","DOI":"10.3174\/ajnr.A5468","volume":"39","author":"SA Manikkam","year":"2018","unstructured":"Manikkam SA, Chetcuti K, Howell KB, et al. Temporal lobe malformations in achondroplasia: expanding the brain imaging phenotype associated with FGFR3- Related skeletal dysplasias. AJNR Am J Neuroradiol. 2018;39(2):380\u20134. https:\/\/doi.org\/10.3174\/ajnr.A5468.","journal-title":"AJNR Am J Neuroradiol"},{"issue":"2","key":"3526_CR31","doi-asserted-by":"publisher","DOI":"10.1016\/j.jogoh.2024.102891","volume":"54","author":"AL Vallin","year":"2025","unstructured":"Vallin AL, Gr\u00e9vent D, Bessi\u00e8res B, et al. Foetal achondroplasia: prenatal diagnosis, outcome and perspectives. J Gynecol Obst Human Reprod. 2025;54(2):102891. https:\/\/doi.org\/10.1016\/j.jogoh.2024.102891.","journal-title":"J Gynecol Obst Human Reprod"},{"key":"3526_CR32","volume-title":"GeneReviews\u00ae [Internet]","author":"G Binder","year":"2005","unstructured":"Binder G, Rappold GA. SHOX deficiency disorders. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews\u00ae [Internet]. Seattle: University of Washington; 2005."},{"issue":"6","key":"3526_CR33","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1002\/mgg3.96","volume":"2","author":"Y Xue","year":"2014","unstructured":"Xue Y, Sun A, Mekikian PB, et al. FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. Mol Genet Genomic Med. 2014;2(6):497\u2013503. https:\/\/doi.org\/10.1002\/mgg3.96.","journal-title":"Mol Genet Genomic Med"},{"issue":"3","key":"3526_CR34","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1136\/jmg.37.3.220","volume":"37","author":"G Mortier","year":"2000","unstructured":"Mortier G, Nuytinck L, Craen M, et al. Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. J Med Genet. 2000;37(3):220\u20134. https:\/\/doi.org\/10.1136\/jmg.37.3.220.","journal-title":"J Med Genet"},{"issue":"1","key":"3526_CR35","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1002\/ajmg.a.10238","volume":"119a","author":"C Thauvin-Robinet","year":"2003","unstructured":"Thauvin-Robinet C, Faivre L, Lewin P, et al. Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene. Am J Med Genet A. 2003;119a(1):81\u20134. https:\/\/doi.org\/10.1002\/ajmg.a.10238.","journal-title":"Am J Med Genet A"},{"issue":"4","key":"3526_CR36","doi-asserted-by":"publisher","DOI":"10.1097\/md.0000000000014157","volume":"98","author":"G Yao","year":"2019","unstructured":"Yao G, Wang G, Wang D, et al. Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: A case report and brief literature review. Medicine Baltimore. 2019;98(4):e14157. https:\/\/doi.org\/10.1097\/md.0000000000014157.","journal-title":"Medicine Baltimore"},{"key":"3526_CR37","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1016\/j.cca.2013.04.015","volume":"423","author":"H Wang","year":"2013","unstructured":"Wang H, Sun Y, Wu W, et al. A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing. Clin Chim Acta. 2013;423:62\u20135. https:\/\/doi.org\/10.1016\/j.cca.2013.04.015.","journal-title":"Clin Chim Acta"},{"key":"3526_CR38","doi-asserted-by":"publisher","unstructured":"Deutz-Terlouw PP, Losekoot M, Aalfs CM, et al. Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia. Hum Mutat. 1998;Suppl 1: S62\u201365. https:\/\/doi.org\/10.1002\/humu.1380110122","DOI":"10.1002\/humu.1380110122"},{"issue":"4","key":"3526_CR39","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<333::AID-HUMU17>3.0.CO;2-J","volume":"11","author":"G Grigelionien\u00e9","year":"1998","unstructured":"Grigelionien\u00e9 G, Hagen\u00e4s L, Ekl\u00f6f O, et al. A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online. Hum Mutat. 1998;11(4):333.","journal-title":"Hum Mutat"},{"issue":"5","key":"3526_CR40","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405\u201324. https:\/\/doi.org\/10.1038\/gim.2015.30.","journal-title":"Genet Med"},{"issue":"1","key":"3526_CR41","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-023-03917-2","volume":"23","author":"H Xie","year":"2023","unstructured":"Xie H, Chen Y, Xiong F, et al. Failure to diagnose\u00a0hypochondroplasia\u00a0by prenatal diagnosis: a case report. BMC Pediatr. 2023;23(1):100. https:\/\/doi.org\/10.1186\/s12887-023-03917-2.","journal-title":"BMC Pediatr"},{"issue":"1","key":"3526_CR42","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1002\/uog.19018","volume":"53","author":"AJ Vivanti","year":"2019","unstructured":"Vivanti AJ, Costa JM, Rosefort A, et al. Optimal non-invasive diagnosis of fetal achondroplasia combining ultrasonography with circulating cell-free fetal DNA analysis. Ultrasound Obstet Gynecol. 2019;53(1):87\u201394. https:\/\/doi.org\/10.1002\/uog.19018.","journal-title":"Ultrasound Obstet Gynecol"}],"container-title":["Advances in Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12325-026-03526-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12325-026-03526-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12325-026-03526-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T08:37:21Z","timestamp":1778229441000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12325-026-03526-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,28]]},"references-count":42,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["3526"],"URL":"https:\/\/doi.org\/10.1007\/s12325-026-03526-2","relation":{},"ISSN":["0741-238X","1865-8652"],"issn-type":[{"value":"0741-238X","type":"print"},{"value":"1865-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,28]]},"assertion":[{"value":"24 December 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 February 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 February 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 March 2026","order":5,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Update","order":6,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The original article has updated as there is an update in introduction section.","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Melita Irving has received honoraria and travel-associated expenses from BridgeBio Pharma Inc., BioMarin Pharmaceutical Inc., Ascendis Pharma, and Tyra. Elena Greco and Alessandra Cocca have participated in an advisory board with BridgeBio. Andrew Dauber has served as a consultant for BioMarin, BridgeBio, Novo Nordisk, Ascendis and Pfizer, and has grant funding from Pfizer and BioMarin. Alexander Augusto de Lima Jorge has received honorarium from BridgeBio, consulting fees from Novo Nordisk, and an independent research grant from BioMarin. Svein Fredwall has participated in advisory boards and given presentations for BioMarin, Sanofi, Ascendis Pharma, BridgeBio and Novo Nordic, honoraria have been paid to his institution, and he is a principal investigator in ongoing clinical trials for Bridgebio and Ascendis Pharma. Amy Patterson has participated in advisory boards with BridgeBio. Keiichi Ozono has received speaker fees from Alexion and Kyowa Kirin. Dominique Kelly, Elena Muslimova, Tejaswini Reddi, and Ren\u00e9e Shediac are employees and shareholders of BridgeBio. Ravi Savarirayan has received consulting fees and grants from BioMarin, has participated on advisory boards with Ascendis and BioMarin, and has received consulting fees from BridgeBio. V. Reid Sutton is a paid consultant to BridgeBio and receives salary support from Baylor Genetics diagnostic laboratory. Julie Hoover-Fong has received grants or contracts from clinical trials from BioMarin, BridgeBio Pharma and Pfizer, has received consulting fees from BioMarin, BridgeBio, Ascendis, Tyra, and Novo Nordisk, has received honoraria from Medscape and BioMarin, and has participated on advisory boards with MCDS-Therapy Clinical Trial (unpaid), BioMarin and BridgeBio. Moira Cheung is an investigator for clinical trials for BioMarin in hypochondroplasia and achondroplasia; has received consulting fees and payment or honoraria for lectures, presentations, and manuscript writing from Bridge Bio, Tyra Scientifica and BioMarin, travel support for attending the Achon Network Meeting, participated on a Drug Medical Committee for Ascendis (unpaid), and holds a leadership or fiduciary role in the Skeletal Dysplasia Group, Skeletal Dysplasia Management Consortium and the Achondroplasia Network Meeting (all unpaid). Juan Llerena Jr and Rui Santos declare no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"This article is based on previously conducted studies and expert consensus discussions and does not contain any new studies with human participants or animals performed by any of the authors, therefore formal ethics committee approval was not required. Written consent was obtained to publish the images and clinical information described in illustrative cases.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}}]}}