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Pseudoachondroplasia
Cheryl A. Petersilge, MD, MBA
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Pseudoachondroplastic dysplasia
              • Pseudoachondroplastic spondyloepiphyseal dysplasia

            IMAGING

            • General Features

              • Radiographic Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            • Treatment

                              Selected References

                              1. Posey KL et al: Chondrocyte-specific pathology during skeletal growth and therapeutics in a murine model of pseudoachondroplasia. J Bone Miner Res. 29(5):1258-68, 2014
                              2. Jackson GC et al: Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat. 33(1):144-57, 2012
                              3. Muensterer OJ et al: Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz. Pediatr Radiol. 42(4):475-80, 2012
                              4. Khungar A et al: Pseudoachondroplastic dysplasia. J Postgrad Med. 39(2):91-3, 1993
                              5. Heselson NG et al: Pseudoachondroplasia, a report of 13 cases. Br J Radiol. 50(595):473-82, 1977
                              Related Anatomy
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                              Related Differential Diagnoses
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                              References
                              Tables

                              Tables

                              KEY FACTS

                              • Terminology

                                • Imaging

                                  • Top Differential Diagnoses

                                    • Pathology

                                      • Clinical Issues

                                        TERMINOLOGY

                                        • Synonyms

                                          • Pseudoachondroplastic dysplasia
                                          • Pseudoachondroplastic spondyloepiphyseal dysplasia

                                        IMAGING

                                        • General Features

                                          • Radiographic Findings

                                            • Imaging Recommendations

                                              DIFFERENTIAL DIAGNOSIS

                                                PATHOLOGY

                                                • General Features

                                                  CLINICAL ISSUES

                                                  • Presentation

                                                    • Demographics

                                                      • Natural History & Prognosis

                                                        • Treatment

                                                          Selected References

                                                          1. Posey KL et al: Chondrocyte-specific pathology during skeletal growth and therapeutics in a murine model of pseudoachondroplasia. J Bone Miner Res. 29(5):1258-68, 2014
                                                          2. Jackson GC et al: Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat. 33(1):144-57, 2012
                                                          3. Muensterer OJ et al: Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz. Pediatr Radiol. 42(4):475-80, 2012
                                                          4. Khungar A et al: Pseudoachondroplastic dysplasia. J Postgrad Med. 39(2):91-3, 1993
                                                          5. Heselson NG et al: Pseudoachondroplasia, a report of 13 cases. Br J Radiol. 50(595):473-82, 1977