Achondroplasia: Difference between revisions
No edit summary |
No edit summary |
||
| (2 intermediate revisions by the same user not shown) | |||
| Line 1: | Line 1: | ||
{{Stub Notice}} | {{Stub Notice}} | ||
Dwarfism | |||
Short stature | |||
[https://pubmed.ncbi.nlm.nih.gov/34837063/ International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia] | |||
[https://resources.wfsahq.org/atotw/anaesthesia-for-paediatric-patients-with-achondroplastic-short-stature/ Anaesthesia for Paediatric Patients with Achondroplastic short stature] | [https://resources.wfsahq.org/atotw/anaesthesia-for-paediatric-patients-with-achondroplastic-short-stature/ Anaesthesia for Paediatric Patients with Achondroplastic short stature] | ||
| Line 6: | Line 10: | ||
[https://www.theguardian.com/film/2018/feb/01/three-billboards-portrayal-of-dwarfism-is-reductive-and-ableist-and-i-would-know Three Billboards' portrayal of dwarfism is reductive and ableist, and I would know] | [https://www.theguardian.com/film/2018/feb/01/three-billboards-portrayal-of-dwarfism-is-reductive-and-ableist-and-i-would-know Three Billboards' portrayal of dwarfism is reductive and ableist, and I would know] | ||
[https://pubmed.ncbi.nlm.nih.gov/38485412/ 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. | |||
Latest revision as of 13:35, 15 April 2024
This is a Stub Notice. This page has not been completed. You can work on this page by signing in and going to the Edit tab. Thanks for helping to make PedsAnesthesia.Net Wiki useful.
Go to the Main Page to see the Topic Outline.
Go to the Generalized Suggested Outline for information on case-specific details for each page.
Go to the Test Page for examples on how to use references in the page.
Relevant Article Depot:
Dwarfism Short stature
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.