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Achondroplasia: Update on diagnosis, follow-up and treatment.
Leiva-Gea A, Martos Lirio MF, Barreda Bonis AC, Marín Del Barrio S, Heath KE, Marín Reina P, Guillén-Navarro E, Santos Simarro F, Riaño Galán I, Yeste Fernández D, Leiva-Gea I. Leiva-Gea A, et al. An Pediatr (Engl Ed). 2022 Dec;97(6):423.e1-423.e11. doi: 10.1016/j.anpede.2022.10.004. Epub 2022 Nov 5. An Pediatr (Engl Ed). 2022. PMID: 36347803 Free article. Review.
Achondroplasia requieres multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of life of people who suffer from it and favoring their independence and social inclusion. ...Different guidelines and recommendations have be
Achondroplasia requieres multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of
Vosoritide: First Approval.
Duggan S. Duggan S. Drugs. 2021 Nov;81(17):2057-2062. doi: 10.1007/s40265-021-01623-w. Drugs. 2021. PMID: 34694597 Review.
Vosoritide (VOXZOGO()) is a modified recombinant human C-type natriuretic peptide (CNP) analogue, being developed by BioMarin Pharmaceutical for the treatment of achondroplasia. Achondroplasia is caused by a gain-of-function mutation in the fibroblast growth factor …
Vosoritide (VOXZOGO()) is a modified recombinant human C-type natriuretic peptide (CNP) analogue, being developed by BioMarin Pharmaceutical …
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela WAR, Betts J, Bober MB, Boero S, Briddell J, Campbell J, Campeau PM, Carl-Innig P, Cheung MS, Cobourne M, Cormier-Daire V, Deladure-Molla M, Del Pino M, Elphick H, Fano V, Fauroux B, Gibbins J, Groves ML, Hagenäs L, Hannon T, Hoover-Fong J, Kaisermann M, Leiva-Gea A, Llerena J, Mackenzie W, Martin K, Mazzoleni F, McDonnell S, Meazzini MC, Milerad J, Mohnike K, Mortier GR, Offiah A, Ozono K, Phillips JA 3rd, Powell S, Prasad Y, Raggio C, Rosselli P, Rossiter J, Selicorni A, Sessa M, Theroux M, Thomas M, Trespedi L, Tunkel D, Wallis C, Wright M, Yasui N, Fredwall SO. Savarirayan R, et al. Nat Rev Endocrinol. 2022 Mar;18(3):173-189. doi: 10.1038/s41574-021-00595-x. Epub 2021 Nov 26. Nat Rev Endocrinol. 2022. PMID: 34837063 Review.
Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. ...The primary purpose of this first International Consensus Statement is to facilitate the improvement and standardiza
Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges
New treatments for children with achondroplasia.
Savarirayan R, Hoover-Fong J, Yap P, Fredwall SO. Savarirayan R, et al. Lancet Child Adolesc Health. 2024 Apr;8(4):301-310. doi: 10.1016/S2352-4642(23)00310-3. Lancet Child Adolesc Health. 2024. PMID: 38485412 Review.
In this Review, we outline the clinical and genetic hallmarks of achondroplasia and related FGFR3 conditions, the natural history and impact of achondroplasia over a patient's lifespan, and diagnosis and management options. ...These new options are changing the natu …
In this Review, we outline the clinical and genetic hallmarks of achondroplasia and related FGFR3 conditions, the natural history and …
Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review.
Wrobel W, Pach E, Ben-Skowronek I. Wrobel W, et al. Int J Mol Sci. 2021 May 25;22(11):5573. doi: 10.3390/ijms22115573. Int J Mol Sci. 2021. PMID: 34070375 Free PMC article. Review.
Achondroplasia (ACH) is a disease caused by a missense mutation in the FGFR3 (fibroblast growth factor receptor 3) gene, which is the most common cause of short stature in humans. The treatment of ACH is necessary and urgent because untreated achondroplasia has many
Achondroplasia (ACH) is a disease caused by a missense mutation in the FGFR3 (fibroblast growth factor receptor 3) gene, which is the
Advances in the management of achondroplasia.
Savarirayan R. Savarirayan R. Nat Rev Endocrinol. 2024 Aug;20(8):443-444. doi: 10.1038/s41574-024-00994-w. Nat Rev Endocrinol. 2024. PMID: 38740894 No abstract available.
Burden and Treatment of Achondroplasia: A Systematic Literature Review.
Murton MC, Drane ELA, Goff-Leggett DM, Shediac R, O'Hara J, Irving M, Butt TJ. Murton MC, et al. Adv Ther. 2023 Sep;40(9):3639-3680. doi: 10.1007/s12325-023-02549-3. Epub 2023 Jun 29. Adv Ther. 2023. PMID: 37382866 Free PMC article. Review.
Included management guidelines varied widely in their scope, with the first global effort to standardise achondroplasia management represented by the International Achondroplasia Consensus Statement published at the end of 2021. Current evidence gaps include a lack …
Included management guidelines varied widely in their scope, with the first global effort to standardise achondroplasia management re …
Novel therapies for growth disorders.
Galetaki DM, Merchant N, Dauber A. Galetaki DM, et al. Eur J Pediatr. 2024 Mar;183(3):1121-1128. doi: 10.1007/s00431-023-05239-y. Epub 2023 Oct 13. Eur J Pediatr. 2024. PMID: 37831302 Review.
Conclusion: The review focuses on long-acting growth hormone formulations, a novel growth hormone oral secretagogue, novel treatments for children with achondroplasia, and targeted therapies for rare forms of skeletal dysplasias. What is Known: Recombinant human growth hor …
Conclusion: The review focuses on long-acting growth hormone formulations, a novel growth hormone oral secretagogue, novel treatments for ch …
Lethal and life-limiting skeletal dysplasias: Selected prenatal issues.
Stembalska A, Dudarewicz L, Śmigiel R. Stembalska A, et al. Adv Clin Exp Med. 2021 Jun;30(6):641-647. doi: 10.17219/acem/134166. Adv Clin Exp Med. 2021. PMID: 34019743 Free article. Review.
Less frequent dysplasias, such as asphyxiating thoracic dystrophy, fibrochondrogenesis, atelosteogenesis, and homozygous achondroplasia, are also discussed....
Less frequent dysplasias, such as asphyxiating thoracic dystrophy, fibrochondrogenesis, atelosteogenesis, and homozygous achondroplasia
New Drug Treats Pediatric Achondroplasia.
Aschenbrenner DS. Aschenbrenner DS. Am J Nurs. 2022 Mar 1;122(3):18. doi: 10.1097/01.NAJ.0000822964.26069.7e. Am J Nurs. 2022. PMID: 35200181
The Food and Drug Administration has granted accelerated approval to vosoritide (Voxzogo) to treat children ages five years and older with achondroplasia who still have open epiphyses.Children prescribed vosoritide should have a meal and 240 to 300 mL of fluid in the hour …
The Food and Drug Administration has granted accelerated approval to vosoritide (Voxzogo) to treat children ages five years and older with …
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