The spine in patients with osteogenesis imperfecta

Maegen J. Wallace, Richard W. Kruse, Suken A. Shah

Research output: Contribution to journalReview article

15 Scopus citations

Abstract

Osteogenesis imperfecta is a genetic disorder of type I collagen. Although multiple genotypes and phenotypes are associated with osteogenesis imperfecta, approximately 90% of the mutations are in the COL1A1 and COL1A2 genes. Osteogenesis imperfecta is characterized by bone fragility. Patients typically have multiple fractures or limb deformity; however, the spine can also be affected. Spinal manifestations include scoliosis, kyphosis, craniocervical junction abnormalities, and lumbosacral pathology. The incidence of lumbosacral spondylolysis and spondylolisthesis is higher in patients with osteogenesis imperfecta than in the general population. Use of diphosphonates has been found to decrease the rate of progression of scoliosis in patients with osteogenesis imperfecta. A lateral cervical radiograph is recommended in patients with this condition before age 6 years for surveillance of craniocervical junction abnormalities, such as basilar impression. Intraoperative and anesthetic considerations in patients with osteogenesis imperfecta include challenges related to fracture risk, airway management, pulmonary function, and blood loss.

Original languageEnglish (US)
Pages (from-to)100-109
Number of pages10
JournalJournal of the American Academy of Orthopaedic Surgeons
Volume25
Issue number2
DOIs
StatePublished - 2017

ASJC Scopus subject areas

  • Surgery
  • Orthopedics and Sports Medicine

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