In Brief: Achondroplasia

1. William B. Stratbucker, MD, MS 1. Helen DeVos Children's Hospital Michigan State University Grand Rapids, Mich Health Supervision for Children With Achondroplasia. American Academy of Pediatrics: Clinical Report . Pediatrics. 2005;116 :771– 783[OpenUrl][1][Abstract/FREE Full Text][2] Achondroplasia . Horton WA, Hall JG, Hecht JT. Lancet. 2007;370 :162– 172[OpenUrl][3][CrossRef][4][PubMed][5][Web of Science][6] Mortality in Achondroplasia Study: A 42-Year Follow-Up . Wynn J, King TM, Gambello MJ, et al. Am J Med Genet. 2007;143A :2502– 2511[OpenUrl][7] Weight for Age Charts for Children with Achondroplasia . Hoover-Fong JE, McGready J, Schulze KJ, et al. Am J Med Genet. 2007;143A :2227– 2235[OpenUrl][8] Achondroplasia is the most common of the skeletal dysplasias and the most common condition associated with disproportionate short stature. The incidence is 1 in 10,000 to 1 in 30,000 live births, with more than 250,000 people affected worldwide. The disorder is transmitted as an autosomal dominant trait with complete penetrance. However, in more than 75% of affected infants, achondroplasia results from a new mutation. The genetic defect in more than 95% of cases is an arginine-for-glycine substitution in amino acid 380 in the gene, mapped to band 4p16.3, that codes for fibroblast growth receptor 3 (FGFR3). … [1]: {openurl}?query=rft.jtitle%253DPediatrics%26rft.stitle%253DPediatrics%26rft.issn%253D0031-4005%26rft.aulast%253DTrotter%26rft.auinit1%253DT.%2BL.%26rft.volume%253D116%26rft.issue%253D3%26rft.spage%253D771%26rft.epage%253D783%26rft.atitle%253DHealth%2BSupervision%2Bfor%2BChildren%2BWith%2BAchondroplasia%26rft_id%253Dinfo%253Adoi%252F10.1542%252Fpeds.2005-1440%26rft_id%253Dinfo%253Apmid%252F16140722%26rft.genre%253Darticle%26rft_val_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Ajournal%26ctx_ver%253DZ39.88-2004%26url_ver%253DZ39.88-2004%26url_ctx_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Actx [2]: /lookup/ijlink?linkType=ABST&journalCode=pediatrics&resid=116/3/771&atom=%2Fpedsinreview%2F30%2F3%2F114.atom [3]: {openurl}?query=rft.jtitle%253DLancet%26rft.stitle%253DLancet%26rft.aulast%253DHorton%26rft.auinit1%253DW.%2BA.%26rft.volume%253D370%26rft.issue%253D9582%26rft.spage%253D162%26rft.epage%253D172%26rft.atitle%253DAchondroplasia.%26rft_id%253Dinfo%253Adoi%252F10.1016%252FS0140-6736%252807%252961090-3%26rft_id%253Dinfo%253Apmid%252F17630040%26rft.genre%253Darticle%26rft_val_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Ajournal%26ctx_ver%253DZ39.88-2004%26url_ver%253DZ39.88-2004%26url_ctx_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Actx [4]: /lookup/external-ref?access_num=10.1016/S0140-6736(07)61090-3&link_type=DOI [5]: /lookup/external-ref?access_num=17630040&link_type=MED&atom=%2Fpedsinreview%2F30%2F3%2F114.atom [6]: /lookup/external-ref?access_num=000248091600031&link_type=ISI [7]: {openurl}?query=rft.jtitle%253DAm%2BJ%2BMed%2BGenet.%26rft.volume%253D143%26rft.spage%253D2502%26rft.genre%253Darticle%26rft_val_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Ajournal%26ctx_ver%253DZ39.88-2004%26url_ver%253DZ39.88-2004%26url_ctx_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Actx [8]: {openurl}?query=rft.jtitle%253DAm%2BJ%2BMed%2BGenet.%26rft.volume%253D143%26rft.spage%253D2227%26rft.genre%253Darticle%26rft_val_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Ajournal%26ctx_ver%253DZ39.88-2004%26url_ver%253DZ39.88-2004%26url_ctx_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Actx