{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:18:22Z","timestamp":1790817502590,"version":"4.1.0"},"reference-count":27,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T00:00:00Z","timestamp":1760054400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T00:00:00Z","timestamp":1760054400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"abstract":"<jats:p>Introduction: Thanatophoric dysplasia type 1 (TD1) is the most severe form of FGFR3-related skeletal dysplasia, with high perinatal mortality and no approved pharmacologic therapies. Vosoritide, a C-type natriuretic peptide analogue that counteracts FGFR3 overactivation, improves growth in achondroplasia, but its effects in TD1 remain unexplored. Case Presentation: We report the response to vosoritide therapy in a 9-year-old girl with genetically confirmed TD1 (c.2420G&gt;T). Vosoritide was initiated at a dose of 15 \u00b5g\/kg\/day subcutaneously and increased to 30 \u00b5g\/kg\/day after 16 months. Growth velocity, anthropometry, pulmonary function, densitometry, and safety were assessed longitudinally over 28 months. At baseline, height was 78.6 cm (\u221210.9 SDS) and annual growth velocity (AGV) 1.6 cm\/year (\u22124.7 SDS). After 28 months, height increased by +1.3 SDS and AGV by +2.0 cm\/year (+3 SDS from baseline). Lung vital capacity improved by 65%. Serial MRI demonstrated persistent severe foramen magnum stenosis without radiological progression. Adverse events were limited to transient injection-site reactions and mild vasovagal episodes; no major safety concerns emerged. Conclusions: Vosoritide was well tolerated and improved growth velocity and lung function in this long-term TD1 survivor, suggesting therapeutic potential even in severe FGFR3 overactivation. Given TD1\u2019s rarity, larger studies and further off-label experience are essential to validate these findings.<\/jats:p>","DOI":"10.1159\/000548836","type":"journal-article","created":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T16:01:05Z","timestamp":1760112065000},"page":"1-8","source":"Crossref","is-referenced-by-count":2,"title":["Thanatophoric Dysplasia Type 1 Treated with Vosoritide: A Case Report"],"prefix":"10.1159","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8579-1048","authenticated-orcid":false,"given":"Rodrigo","family":"Montero-Lopez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Blaschitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Karas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanja","family":"Fritz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabeth","family":"Laurer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uvistra","family":"Naidoo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4328-6304","authenticated-orcid":false,"given":"Wolfgang","family":"H\u00f6gler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2025,10,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/boneres.2014.3"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/386288a0"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21636"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111\/ped.15007"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63132"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111\/ped.13927"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32485"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1813446"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(20)31541-5"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01287-7"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.eclinm.2024.102591"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007\/s40265-021-01623-w"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2003.09.002"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-233"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0003961"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.3109\/03014460.2013.776110"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-1025337"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330420"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.29"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1007\/s10354-020-00741-6"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1038\/nm971"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.014"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1016\/j.eclinm.2023.102258"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1038\/s41574-024-01074-9"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1016\/j.medj.2024.11.019"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1297\/cpe.2023-0068"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1038\/s41372-018-0227-3"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000548836","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T17:02:19Z","timestamp":1763744539000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000548836"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,10]]},"references-count":27,"URL":"https:\/\/doi.org\/10.1159\/000548836","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.30315451","asserted-by":"subject"}]},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,10]]}}}