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Pycnodysostosis
Cheryl A. Petersilge, MD, MBA; Nancy A. Chauvin, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Toulouse-Lautrec syndrome
            • Definitions

              • Lysosomal storage disease resulting in dense, brittle bones

            IMAGING

            • General Features

              • Imaging Recommendations

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              • Treatment

                                Selected References

                                1. Omer Sulaiman H et al: Pycnodysostosis: a growth hormone responsive skeletal dysplasia. AACE Clin Case Rep. 7(4):231-5, 2021
                                2. S R et al: Osteomyelitis in pycnodysostosis - report of 2 clinical cases. J Clin Diagn Res. 9(1):ZD15-7, 2015
                                3. Yates CJ et al: An atypical subtrochanteric femoral fracture from pycnodysostosis: a lesson from nature. J Bone Miner Res. 26(6):1377-9, 2011
                                4. 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
                                5. Vanhoenacker FM et al: Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol. 10(9):1423-33, 2000
                                6. Mills KL et al: Pycnodysostosis. J Med Genet. 25(8):550-3, 1988
                                7. 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

                                            • Toulouse-Lautrec syndrome
                                          • Definitions

                                            • Lysosomal storage disease resulting in dense, brittle bones

                                          IMAGING

                                          • General Features

                                            • Imaging Recommendations

                                              • Radiographic Findings

                                                • CT Findings

                                                  • MR Findings

                                                    DIFFERENTIAL DIAGNOSIS

                                                      PATHOLOGY

                                                      • General Features

                                                        CLINICAL ISSUES

                                                        • Presentation

                                                          • Demographics

                                                            • Treatment

                                                              Selected References

                                                              1. Omer Sulaiman H et al: Pycnodysostosis: a growth hormone responsive skeletal dysplasia. AACE Clin Case Rep. 7(4):231-5, 2021
                                                              2. S R et al: Osteomyelitis in pycnodysostosis - report of 2 clinical cases. J Clin Diagn Res. 9(1):ZD15-7, 2015
                                                              3. Yates CJ et al: An atypical subtrochanteric femoral fracture from pycnodysostosis: a lesson from nature. J Bone Miner Res. 26(6):1377-9, 2011
                                                              4. 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
                                                              5. Vanhoenacker FM et al: Sclerosing bone dysplasias: genetic and radioclinical features. Eur Radiol. 10(9):1423-33, 2000
                                                              6. Mills KL et al: Pycnodysostosis. J Med Genet. 25(8):550-3, 1988
                                                              7. Beighton P et al: A review of the osteopetroses. Postgrad Med J. 53(622):507-16, 1977