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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
TERMINOLOGY
Abbreviations
Osteogenesis imperfecta (OI)
Synonyms
"Brittle bone" disease
Definitions
Genetically and clinically heterogeneous group of connective tissue disorders presenting with osteoporosis and fractures
90% of cases due to abnormalities in type I collagen (COL1A1, COL1A2)
Historically, OI has been classified into 5 basic phenotypic groups (I-V) with clinical descriptors
Currently 17 different genetic causes of OI are known
Newer OI nomenclature further subdivides classic phenotypes
Phenotypes with mild to moderate severity (previously types I, IV, V)
Phenotypes that are progressively deforming and perinatally lethal (previously types II, III)
IMAGING
General Features
Ultrasonographic Findings
Radiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Ashby E et al: Functional outcome of humeral rodding in children with osteogenesis imperfecta. J Pediatr Orthop. ePub, 2016
Cozzolino M et al: Management of osteogenesis imperfecta type I in pregnancy; a review of literature applied to clinical practice. Arch Gynecol Obstet. ePub, 2016
Reyes C et al: Risks and benefits of bisphosphonate therapies. J Cell Biochem. 117(1):20-8, 2016
Forlino A et al: Osteogenesis imperfecta. Lancet. ePub, 2015
Pereira EM: Clinical perspectives on osteogenesis imperfecta versus non-accidental injury. Am J Med Genet C Semin Med Genet. 169(4):302-6, 2015
Shaker JL et al: Recent developments in osteogenesis imperfecta. F1000Res. 4(F1000 Faculty Rev):681, 2015
Van Dijk FS et al: Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 164A(6):1470-81, 2014
Alanay Y et al: Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 86(4):551-9, 2010
Rauch F et al: Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. Eur J Hum Genet. 18(6):642-7, 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
Cubert R et al: Osteogenesis imperfecta: mode of delivery and neonatal outcome. Obstet Gynecol. 97(1):66-9, 2001
Sarathchandra P et al: A light and electron microscopic study of osteogenesis imperfecta bone samples, with reference to collagen chemistry and clinical phenotype. J Pathol. 192(3):385-95, 2000
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
TERMINOLOGY
Abbreviations
Osteogenesis imperfecta (OI)
Synonyms
"Brittle bone" disease
Definitions
Genetically and clinically heterogeneous group of connective tissue disorders presenting with osteoporosis and fractures
90% of cases due to abnormalities in type I collagen (COL1A1, COL1A2)
Historically, OI has been classified into 5 basic phenotypic groups (I-V) with clinical descriptors
Currently 17 different genetic causes of OI are known
Newer OI nomenclature further subdivides classic phenotypes
Phenotypes with mild to moderate severity (previously types I, IV, V)
Phenotypes that are progressively deforming and perinatally lethal (previously types II, III)
IMAGING
General Features
Ultrasonographic Findings
Radiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Image Interpretation Pearls
Selected References
Ashby E et al: Functional outcome of humeral rodding in children with osteogenesis imperfecta. J Pediatr Orthop. ePub, 2016
Cozzolino M et al: Management of osteogenesis imperfecta type I in pregnancy; a review of literature applied to clinical practice. Arch Gynecol Obstet. ePub, 2016
Reyes C et al: Risks and benefits of bisphosphonate therapies. J Cell Biochem. 117(1):20-8, 2016
Forlino A et al: Osteogenesis imperfecta. Lancet. ePub, 2015
Pereira EM: Clinical perspectives on osteogenesis imperfecta versus non-accidental injury. Am J Med Genet C Semin Med Genet. 169(4):302-6, 2015
Shaker JL et al: Recent developments in osteogenesis imperfecta. F1000Res. 4(F1000 Faculty Rev):681, 2015
Van Dijk FS et al: Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 164A(6):1470-81, 2014
Alanay Y et al: Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 86(4):551-9, 2010
Rauch F et al: Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. Eur J Hum Genet. 18(6):642-7, 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
Cubert R et al: Osteogenesis imperfecta: mode of delivery and neonatal outcome. Obstet Gynecol. 97(1):66-9, 2001
Sarathchandra P et al: A light and electron microscopic study of osteogenesis imperfecta bone samples, with reference to collagen chemistry and clinical phenotype. J Pathol. 192(3):385-95, 2000
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