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A multidisciplinary approach to understanding skeletal dysplasias

, , &
Pages 731-743 | Published online: 10 Jan 2014
 

Abstract

The skeletal dysplasias are a heterogeneous group of conditions of abnormal cartilage and bone development, resulting in a wide range of phenotypes of variable severity from perinatal lethality to mild short stature. Elucidation of the molecular mechanisms underlying these disorders is allowing us to understand more about the etiology of these conditions and classify them based upon the underlying gene defect. This article will discuss the development of bone and cartilage in relation to these conditions, present a clinical approach to their diagnosis and management, and consider new avenues of therapy.

Acknowledgements

The authors would like to thank Victoria Murday for her helpful comments on the manuscript.

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.

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