The Spine in Patients With Osteogenesis ImperfectaWallace, Maegen J. MD; Kruse, Richard W. DO, MBA; Shah, Suken A. MDJAAOS - Journal of the American Academy of Orthopaedic Surgeons: February 2017 - Volume 25 - Issue 2 - p 100-109 doi: 10.5435/JAAOS-D-15-00169 Review Article Abstract Author InformationAuthors Article MetricsMetrics 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. From the Department of Orthopedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE. Dr. Kruse or an immediate family member serves as an unpaid consultant to DePuy Synthes and serves as a board member, owner, officer, or committee member of the American Academy of Orthopaedic Surgeons and the Pediatric Orthopaedic Society of North America. Dr. Shah or an immediate family member has received royalties from Arthrex and DePuy Synthes; serves as a paid consultant to DePuy Synthes and Stryker; has stock or stock options held in Globus Medical; has received research or institutional support from DePuy Synthes; and serves as a board member, owner, officer, or committee member of the American Academy of Orthopaedic Surgeons, the Scoliosis Research Society, the Pediatric Orthopaedic Society of North America, and the Setting Scoliosis Straight Foundation. Neither Dr. Wallace nor any immediate family member has received anything of value from or has stock or stock options held in a commercial company or institution related directly or indirectly to the subject of this article. Copyright 2016 by the American Academy of Orthopaedic Surgeons.