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Spondyloepiphyseal Dysplasia
Cheryl A. Petersilge, MD, MBA
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Abbreviations

            • Spondyloepiphyseal dysplasia (SED)
            • Spondyloepiphyseal dysplasia congenita (SDC)
          • Definitions

            • Dwarfism with disproportionately short trunk
              • Trunk shortening > extremity shortening
            • Heterogeneous group of disorders involving spine & epiphyses; divided into congenital & tarda forms

          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

                                1. 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
                                2. Mandal SK et al: Spondyloepiphyseal dysplasia tarda with progressive arthropathy associated with subcapsular cataract. BMJ Case Rep. 2014, 2014
                                3. 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
                                4. 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
                                5. Tham E et al: Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia. Clin Genet. ePub, 2014
                                6. Macpherson RI et al: Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism. Pediatr Radiol. 9(4):217-24, 1980
                                7. Spranger JW et al: Spondyloepiphyseal dysplasia congenita. Radiology. 94(2):313-22, 1970
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Pathology

                                      • Clinical Issues

                                        TERMINOLOGY

                                        • Abbreviations

                                          • Spondyloepiphyseal dysplasia (SED)
                                          • Spondyloepiphyseal dysplasia congenita (SDC)
                                        • Definitions

                                          • Dwarfism with disproportionately short trunk
                                            • Trunk shortening > extremity shortening
                                          • Heterogeneous group of disorders involving spine & epiphyses; divided into congenital & tarda forms

                                        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

                                                              1. 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
                                                              2. Mandal SK et al: Spondyloepiphyseal dysplasia tarda with progressive arthropathy associated with subcapsular cataract. BMJ Case Rep. 2014, 2014
                                                              3. 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
                                                              4. 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
                                                              5. Tham E et al: Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia. Clin Genet. ePub, 2014
                                                              6. Macpherson RI et al: Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism. Pediatr Radiol. 9(4):217-24, 1980
                                                              7. Spranger JW et al: Spondyloepiphyseal dysplasia congenita. Radiology. 94(2):313-22, 1970