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      Achondroplasia: a comprehensive clinical review

      review-article
      Orphanet Journal of Rare Diseases
      BioMed Central
      Achondroplasia, FGFR3, Skeletal dysplasia, Natural history, Care guidelines

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          Abstract

          Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in which these are best diagnosed and addressed, and whether preventive strategies can ameliorate the problems that can compromise the health and well being of affected individuals. This review provides both an updated discussion of the care needs of those with achondroplasia and an exploration of the limits of evidence that is available regarding care recommendations, controversies that are currently present, and the many areas of ignorance that remain.

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          The dramatic increase in the prevalence of childhood overweight and its resultant comorbidities are associated with significant health and financial burdens, warranting strong and comprehensive prevention efforts. This statement proposes strategies for early identification of excessive weight gain by using body mass index, for dietary and physical activity interventions during health supervision encounters, and for advocacy and research.
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                Author and article information

                Contributors
                pauli@waisman.wisc.edu
                Journal
                Orphanet J Rare Dis
                Orphanet J Rare Dis
                Orphanet Journal of Rare Diseases
                BioMed Central (London )
                1750-1172
                3 January 2019
                3 January 2019
                2019
                : 14
                : 1
                Affiliations
                ISNI 0000 0001 2167 3675, GRID grid.14003.36, Midwest Regional Bone Dysplasia Clinic, Department of Pediatrics, , University of Wisconsin School of Medicine and Public Health, ; 1500 Highland Ave., Madison, WI 53705 USA
                Author information
                http://orcid.org/0000-0003-3471-5154
                Article
                972
                10.1186/s13023-018-0972-6
                6318916
                30606190
                cf091e03-7bbd-4f30-8400-dc5e6e01a9f0
                © The Author(s). 2019

                Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                History
                : 16 September 2018
                : 5 December 2018
                Funding
                Funded by: FundRef http://dx.doi.org/10.13039/100008028, School of Medicine and Public Health, University of Wisconsin-Madison;
                Categories
                Review
                Custom metadata
                © The Author(s) 2019

                Infectious disease & Microbiology
                achondroplasia,fgfr3,skeletal dysplasia,natural history,care guidelines

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