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Pycnodysostosis
Cheryl A. Petersilge, MD, MBA
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Maroteaux-Lamy
            • Definitions

              • Lysosomal storage disease resulting in dense bones

            IMAGING

            • General Features

              • Imaging Recommendations

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              Selected References

                              1. S R et al: Osteomyelitis in pycnodysostosis - report of 2 clinical cases. J Clin Diagn Res. 9(1):ZD15-7, 2015
                              2. Yates CJ et al: An atypical subtrochanteric femoral fracture from pycnodysostosis: a lesson from nature. J Bone Miner Res. 26(6):1377-9, 2011
                              3. Bathi RJ et al: Pyknodysostosis—a report of two cases with a brief review of the literature. Int J Oral Maxillofac Surg. 29(6):439-42, 2000
                              4. Vanhoenacker FM et al: Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol. 10(9):1423-33, 2000
                              5. Mills KL et al: Pycnodysostosis. J Med Genet. 25(8):550-3, 1988
                              6. Beighton P et al: A review of the osteopetroses. Postgrad Med J. 53(622):507-16, 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

                                          • Maroteaux-Lamy
                                        • Definitions

                                          • Lysosomal storage disease resulting in dense bones

                                        IMAGING

                                        • General Features

                                          • Imaging Recommendations

                                            • Radiographic Findings

                                              • CT Findings

                                                • MR Findings

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      CLINICAL ISSUES

                                                      • Presentation

                                                        • Demographics

                                                          Selected References

                                                          1. S R et al: Osteomyelitis in pycnodysostosis - report of 2 clinical cases. J Clin Diagn Res. 9(1):ZD15-7, 2015
                                                          2. Yates CJ et al: An atypical subtrochanteric femoral fracture from pycnodysostosis: a lesson from nature. J Bone Miner Res. 26(6):1377-9, 2011
                                                          3. Bathi RJ et al: Pyknodysostosis—a report of two cases with a brief review of the literature. Int J Oral Maxillofac Surg. 29(6):439-42, 2000
                                                          4. Vanhoenacker FM et al: Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol. 10(9):1423-33, 2000
                                                          5. Mills KL et al: Pycnodysostosis. J Med Genet. 25(8):550-3, 1988
                                                          6. Beighton P et al: A review of the osteopetroses. Postgrad Med J. 53(622):507-16, 1977