Review

Calcified Tissue International

, Volume 90, Issue 6, pp 439-449

Recent Advances in Osteogenesis Imperfecta

  • Tim CundyAffiliated withDepartment of Medicine, Faculty of Medical & Health Sciences, University of Auckland Email author 

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Abstract

“Osteogenesis imperfecta” is a term used to describe a group of genetic disorders of variable phenotype usually defined by recurrent fractures, low bone mass, and skeletal fragility. Most cases are associated with mutations in one of the type I collagen genes, but in recent years several other forms have been identified with recessive inheritance. In most instances the latter result from mutations in genes encoding proteins involved in type I collagen’s complex posttranslational modification or in genes regulating bone matrix homeostasis. This article reviews the recent discoveries and an approach to classification and diagnosis. Bisphosphonates are widely used in patients with osteogenesis imperfecta, but some important questions about their optimal usage, their utility in children and adults with milder phenotypes, and their potential adverse effects are not yet resolved.

Keywords

Bisphosphonate Matrix protein Osteogenesis imperfecta Pediatric bone disease Type I collagen