Fractures in Osteogenesis Imperfecta: Pathogenesis, Treatment, Rehabilitation and Prevention

Wouter Nijhuis*, Marjolein Verhoef, Christiaan van Bergen, Harrie Weinans, Ralph Sakkers

*Corresponding author for this work

Research output: Contribution to journalArticleScientificpeer-review

9 Citations (Scopus)
33 Downloads (Pure)

Abstract

Fractures in patients with osteogenesis imperfecta (OI) are caused by a decreased strength of bone due to a decreased quality and quantity of bone matrix and architecture. Mutations in the collagen type 1 encoding genes cause the altered formation of collagen type I, one of the principal building blocks of bone tissue. Due to the complexity of the disease and the high variation of the clinical problems between patients, treatment for these patients should be individually tailored. In general, short immobilization periods with flexible casting material, use of intramedullary implants, and simultaneous deformity correction are preferred. Multidisciplinary care with a broad view of the support needed for the patient and his/her living environment is necessary for the optimal rehabilitation of these patients. Increasing bone strength with exercise, medication, and sometimes alignment surgery is generally indicated to prevent fractures.

Original languageEnglish
Article number268
Number of pages10
JournalChildren
Volume9
Issue number2
DOIs
Publication statusPublished - 2022

Keywords

  • Brittle bone disease
  • Collagen
  • Fracture
  • Osteogenesis imperfecta
  • Rehabilitation
  • Surgery

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