Osteogenesis imperfecta: advancements in genetics and treatment.

ABSTRACT: PURPOSE OF REVIEW:The purpose of this review is to outline the current understanding of the molecular mechanisms and natural history of osteogenesis imperfecta, and to describe the development of new treatments for this disorder. RECENT FINDINGS:The introduction of next-generation sequencing technology has led to better understanding of the genetic cause of osteogenesis imperfecta and enabled cost-effective and timely diagnosis via expanded gene panels and exome or genome sequencing. Clinically, despite genetic heterogeneity, different forms of osteogenesis imperfecta share similar features that include connective tissue and systemic manifestations in addition to bone fragility. Thus, the goals of treatment in osteogenesis imperfecta extend beyond decreasing the risk of fracture, to includ

SUBMITTER: Rossi V 

PROVIDER: S-EPMC7017716 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature