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Current Osteoporosis Reports

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01-10-2017 | Pediatrics (L Ward and E Imel, Section Editors)

Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know

Author: Sarah M. Nikkel

Published in: Current Osteoporosis Reports | Issue 5/2017

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.

Summary

One needs to consider that a patient with short stature has a skeletal dysplasia as options for management may be available.

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Title: Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know
Author: Sarah M. Nikkel
Publication date: 01-10-2017
Publisher: Springer US
Published in: Current Osteoporosis Reports / Issue 5/2017
Print ISSN: 1544-1873
Electronic ISSN: 1544-2241
DOI: https://doi.org/10.1007/s11914-017-0392-x

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know

Abstract

Purpose of Review

Recent Findings

Summary

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose of Review

Recent Findings

Summary

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