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KEY FACTS
Terminology
Imaging
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
- Spondyloepiphyseal dysplasia (SED)
- SED congenita (SDC)
Definitions
- Dwarfism with disproportionately short trunk
- Trunk shortening > extremity shortening
- Heterogeneous group of collagenopathies involving spine & epiphyses; divided into congenital & tarda forms
- Dwarfism with disproportionately short trunk
IMAGING
General Features
Imaging Recommendations
Radiographic Findings
CT Findings
MR Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
- Handa A et al: Radiologic features of type II and type XI collagenopathies. Radiographics. 41(1):192-209, 2021
- Terhal PA et al: A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A. 167(3):461-75, 2015
- Mandal SK et al: Spondyloepiphyseal dysplasia tarda with progressive arthropathy associated with subcapsular cataract. BMJ Case Rep. 2014, 2014
- Panda A et al: Skeletal dysplasias: a radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol. 6(10):808-25, 2014
- Rukavina I et al: Mutation in the type II collagen gene (COL2AI) as a cause of primary osteoarthritis associated with mild spondyloepiphyseal involvement. Semin Arthritis Rheum. 44(1):101-4, 2014
- Macpherson RI et al: Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism. Pediatr Radiol. 9(4):217-24, 1980
- Spranger JW et al: Spondyloepiphyseal dysplasia congenita. Radiology. 94(2):313-22, 1970
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
- Spondyloepiphyseal dysplasia (SED)
- SED congenita (SDC)
Definitions
- Dwarfism with disproportionately short trunk
- Trunk shortening > extremity shortening
- Heterogeneous group of collagenopathies involving spine & epiphyses; divided into congenital & tarda forms
- Dwarfism with disproportionately short trunk
IMAGING
General Features
Imaging Recommendations
Radiographic Findings
CT Findings
MR Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
- Handa A et al: Radiologic features of type II and type XI collagenopathies. Radiographics. 41(1):192-209, 2021
- Terhal PA et al: A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A. 167(3):461-75, 2015
- Mandal SK et al: Spondyloepiphyseal dysplasia tarda with progressive arthropathy associated with subcapsular cataract. BMJ Case Rep. 2014, 2014
- Panda A et al: Skeletal dysplasias: a radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol. 6(10):808-25, 2014
- Rukavina I et al: Mutation in the type II collagen gene (COL2AI) as a cause of primary osteoarthritis associated with mild spondyloepiphyseal involvement. Semin Arthritis Rheum. 44(1):101-4, 2014
- Macpherson RI et al: Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism. Pediatr Radiol. 9(4):217-24, 1980
- Spranger JW et al: Spondyloepiphyseal dysplasia congenita. Radiology. 94(2):313-22, 1970
