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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)
- Genetically and clinically heterogeneous group of connective tissue disorders presenting with osteoporosis and fractures
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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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)
- Genetically and clinically heterogeneous group of connective tissue disorders presenting with osteoporosis and fractures
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
