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Review
. 2017 Oct;15(5):419-424.
doi: 10.1007/s11914-017-0392-x.

Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know

Sarah M Nikkel  1
Affiliations
Review

Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know

Sarah M Nikkel. Curr Osteoporos Rep. 2017 Oct.

Abstract

Purpose of review: This review highlights how skeletal dysplasias are diagnosed and how our understanding of some of these conditions has now translated to treatment options.

Recent findings: The use of multigene panels, using next-generation sequence technology, has improved our ability to quickly identify the genetic etiology, which can impact management. There are successes with the use of growth hormone in individuals with SHOX deficiencies, asfotase alfa in hypophosphatasia, and some promising data for c-type natriuretic peptide for those with achondroplasia. One needs to consider that a patient with short stature has a skeletal dysplasia as options for management may be available.

Keywords: C-type natriuretic peptide; Enzyme replacement therapy; Gene panels; Radiographs; Skeletal dysplasias.

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References

    1. Pediatrics. 2005 Sep;116(3):771-83 - PubMed
    1. J Pharmacol Exp Ther. 2015 Apr;353(1):132-49 - PubMed
    1. Ann Radiol (Paris). 1970;13(7):455-64 - PubMed
    1. Cochrane Database Syst Rev. 2016 Oct 19;10 :CD005088 - PubMed
    1. Nat Med. 2004 Jan;10(1):80-6 - PubMed

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