Genetic disorder of type I collagen resulting in bone fragility
Classified into 4 types based on clinical, genetic, and radiographic criteria
Severe forms: Bones short, thickened due to multiple fractures in utero and early childhood
Milder forms: Bones thin and gracile
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Ultrasonographic Findings
Nuclear Medicine Findings
Other Modality Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
Kashii M et al: Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy. J Bone Miner Metab. 37(3):545-53, 2019
Gardner A et al: The use of magnetically controlled growing rods in paediatric osteogenesis imperfecta with early onset, progressive scoliosis. J Surg Case Rep. 2018(3):rjy043, 2018
Liu G et al: The genetic implication of scoliosis in osteogenesis imperfecta: a review. J Spine Surg. 3(4):666-78, 2017
Persiani P et al: Association between spondylolisthesis and L5 fracture in patients with osteogenesis imperfecta. Eur Spine J. 26(12):3106-11, 2017
Wallace MJ et al: The spine in patients with osteogenesis imperfecta. J Am Acad Orthop Surg. 25(2):100-9, 2017
Costa FW et al: Clinical aspects, imaging features, and considerations on bisphosphonate-related osteonecrosis risk in a pediatric patient with osteogenesis imperfecta. Case Rep Dent. 2014:384292, 2014
Vardakastani V et al: Increased intra-cortical porosity reduces bone stiffness and strength in pediatric patients with osteogenesis imperfecta. Bone. 69:61-7, 2014
Mesfin A et al: Management of hangman's fractures and a subaxial compression fracture in two children with osteogenesis imperfecta. J Surg Orthop Adv. 22(4):326-9, 2013
Wekre LL et al: Spinal deformities and lung function in adults with osteogenesis imperfecta. Clin Respir J. Epub ahead of print, 2013
Khandanpour N et al: Craniospinal abnormalities and neurologic complications of osteogenesis imperfecta: imaging overview. Radiographics. 32(7):2101-12, 2012
Imagama S et al: Factors related to surgical outcome after posterior decompression and fusion for craniocervical junction lesions associated with osteogenesis imperfecta. Eur Spine J. 20 Suppl 2:S320-5, 2011
Fürstenberg CH et al: The role of kyphoplasty in the management of osteogenesis imperfecta: risk or benefit? Eur Spine J. 19 Suppl 2:S144-8, 2010
Leng LZ et al: Management of acute cervical compression fractures in two patients with osteogenesis imperfecta. Spine (Phila Pa 1976). 35(22):E1248-52, 2010
Rauch F et al: Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta. J Bone Miner Res. 25(6):1367-74, 2010
Sasaki-Adams D et al: Neurosurgical implications of osteogenesis imperfecta in children. Report of 4 cases. J Neurosurg Pediatr. 1(3):229-36, 2008
Ibrahim AG et al: Basilar impression and osteogenesis imperfecta: a 21-year retrospective review of outcomes in 20 patients. J Neurosurg Spine. 7(6):594-600, 2007
Daivajna S et al: Surgical management of severe cervical kyphosis with myelopathy in osteogenesis imperfecta: a case report. Spine (Phila Pa 1976). 30(7):E191-4, 2005
Moore MS et al: The role of dual energy x-ray absorptiometry in aiding the diagnosis of pediatric osteogenesis imperfecta. Am J Orthop. 27(12):797-801, 1998
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Synonyms
Brittle bone disease
Definitions
Genetic disorder of type I collagen resulting in bone fragility
Classified into 4 types based on clinical, genetic, and radiographic criteria
Severe forms: Bones short, thickened due to multiple fractures in utero and early childhood
Milder forms: Bones thin and gracile
IMAGING
General Features
Radiographic Findings
CT Findings
MR Findings
Ultrasonographic Findings
Nuclear Medicine Findings
Other Modality Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
Kashii M et al: Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy. J Bone Miner Metab. 37(3):545-53, 2019
Gardner A et al: The use of magnetically controlled growing rods in paediatric osteogenesis imperfecta with early onset, progressive scoliosis. J Surg Case Rep. 2018(3):rjy043, 2018
Liu G et al: The genetic implication of scoliosis in osteogenesis imperfecta: a review. J Spine Surg. 3(4):666-78, 2017
Persiani P et al: Association between spondylolisthesis and L5 fracture in patients with osteogenesis imperfecta. Eur Spine J. 26(12):3106-11, 2017
Wallace MJ et al: The spine in patients with osteogenesis imperfecta. J Am Acad Orthop Surg. 25(2):100-9, 2017
Costa FW et al: Clinical aspects, imaging features, and considerations on bisphosphonate-related osteonecrosis risk in a pediatric patient with osteogenesis imperfecta. Case Rep Dent. 2014:384292, 2014
Vardakastani V et al: Increased intra-cortical porosity reduces bone stiffness and strength in pediatric patients with osteogenesis imperfecta. Bone. 69:61-7, 2014
Mesfin A et al: Management of hangman's fractures and a subaxial compression fracture in two children with osteogenesis imperfecta. J Surg Orthop Adv. 22(4):326-9, 2013
Wekre LL et al: Spinal deformities and lung function in adults with osteogenesis imperfecta. Clin Respir J. Epub ahead of print, 2013
Khandanpour N et al: Craniospinal abnormalities and neurologic complications of osteogenesis imperfecta: imaging overview. Radiographics. 32(7):2101-12, 2012
Imagama S et al: Factors related to surgical outcome after posterior decompression and fusion for craniocervical junction lesions associated with osteogenesis imperfecta. Eur Spine J. 20 Suppl 2:S320-5, 2011
Fürstenberg CH et al: The role of kyphoplasty in the management of osteogenesis imperfecta: risk or benefit? Eur Spine J. 19 Suppl 2:S144-8, 2010
Leng LZ et al: Management of acute cervical compression fractures in two patients with osteogenesis imperfecta. Spine (Phila Pa 1976). 35(22):E1248-52, 2010
Rauch F et al: Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta. J Bone Miner Res. 25(6):1367-74, 2010
Sasaki-Adams D et al: Neurosurgical implications of osteogenesis imperfecta in children. Report of 4 cases. J Neurosurg Pediatr. 1(3):229-36, 2008
Ibrahim AG et al: Basilar impression and osteogenesis imperfecta: a 21-year retrospective review of outcomes in 20 patients. J Neurosurg Spine. 7(6):594-600, 2007
Daivajna S et al: Surgical management of severe cervical kyphosis with myelopathy in osteogenesis imperfecta: a case report. Spine (Phila Pa 1976). 30(7):E191-4, 2005
Moore MS et al: The role of dual energy x-ray absorptiometry in aiding the diagnosis of pediatric osteogenesis imperfecta. Am J Orthop. 27(12):797-801, 1998
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