Achondroplasia

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Relevant Article Depot:

Dwarfism Short stature

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

Anaesthesia for Paediatric Patients with Achondroplastic short stature

Atlanto-axial instability in achondroplastic dwarfs: a report of two cases and literature review

Three Billboards' portrayal of dwarfism is reductive and ableist, and I would know

New treatments for children with achondroplasia

White KK, Bompadre V, Goldberg MJ, et al. Best practices in peri-operative management of patients with skeletal dysplasias. Am J Med Genet A 2017;173(10):2584-2595. (In eng). DOI: 10.1002/ajmg.a.38357.

4. Ornitz DM, Legeai-Mallet L. Achondroplasia: Development, pathogenesis, and therapy. Dev Dyn 2017;246(4):291-309. (In eng). DOI: 10.1002/dvdy.24479.

5. Hisado-Oliva A, Ruzafa-Martin A, Sentchordi L, et al. Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature. Genet Med 2018;20(1):91-97. (In eng). DOI: 10.1038/gim.2017.66.

6. Bocciardi R, Giorda R, Buttgereit J, et al. Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation. Hum Mutat 2007;28(7):724-31. (In eng). DOI: 10.1002/humu.20511.

7. Savarirayan R, Tofts L, Irving M, et al. Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study. Genet Med 2021;23(12):2443-2447. (In eng). DOI: 10.1038/s41436-021-01287-7.