Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know

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.