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Cleidocranial Dysplasia
Brad J. Potter, DDS, MS; Margot L. Van Dis, DDS, MS
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Formerly known as cleidocranial dysostosis
              • Scheuthauer-Marie-Sainton syndrome
            • Definitions

              • Developmental defect with skeletal and dental abnormalities

            IMAGING

            • General Features

              • Radiographic Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Gross Pathologic & Surgical Features

                        CLINICAL ISSUES

                        • Presentation

                          • Treatment

                            Selected References

                            1. Lubinsky M et al: Syndromes with supernumerary teeth. Am J Med Genet A. 170(10):2611-6, 2016
                            2. Yamasaki S et al: Generation of cleidocranial dysplasia-specific human induced pluripotent stem cells in completely serum-, feeder-, and integration-free culture. In Vitro Cell Dev Biol Anim. 52(2):252-64, 2016
                            3. Schnutenhaus S et al: Histological examination and clinical evaluation of the jawbone of an adult patient with cleidocranial dysplasia: a case report. Int J Clin Exp Pathol. 8(7):8521-31, 2015
                            4. Cardoso BM et al: Cleidocranial dysplasia with severe parietal bone dysplasia: a new (p.Val124Serfs) RUNX2 mutation. Clin Dysmorphol. 19(3):150-2, 2010
                            5. D'Alessandro G et al: Cleidocranial dysplasia: etiology and stomatognathic and craniofacial abnormalities. Minerva Stomatol. 59(3):117-27, 2010
                            6. Marchisella C et al: Identification of a novel RUNX2 gene mutation in an Italian family with cleidocranial dysplasia. Eur J Orthod. Epub ahead of print, 2010
                            7. Suda N et al: Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia. Orthod Craniofac Res. 13(4):197-202, 2010
                            8. Broad Spectrum of Skeletal Malformation Complex in Patients with Cleidocranial Dysplasia Syndrome: Radiographic and Tomographic Study
                            9. Molecular genetics of supernumerary tooth formation.
                            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

                                        • Formerly known as cleidocranial dysostosis
                                        • Scheuthauer-Marie-Sainton syndrome
                                      • Definitions

                                        • Developmental defect with skeletal and dental abnormalities

                                      IMAGING

                                      • General Features

                                        • Radiographic Findings

                                          • Imaging Recommendations

                                            DIFFERENTIAL DIAGNOSIS

                                              PATHOLOGY

                                              • General Features

                                                • Gross Pathologic & Surgical Features

                                                  CLINICAL ISSUES

                                                  • Presentation

                                                    • Treatment

                                                      Selected References

                                                      1. Lubinsky M et al: Syndromes with supernumerary teeth. Am J Med Genet A. 170(10):2611-6, 2016
                                                      2. Yamasaki S et al: Generation of cleidocranial dysplasia-specific human induced pluripotent stem cells in completely serum-, feeder-, and integration-free culture. In Vitro Cell Dev Biol Anim. 52(2):252-64, 2016
                                                      3. Schnutenhaus S et al: Histological examination and clinical evaluation of the jawbone of an adult patient with cleidocranial dysplasia: a case report. Int J Clin Exp Pathol. 8(7):8521-31, 2015
                                                      4. Cardoso BM et al: Cleidocranial dysplasia with severe parietal bone dysplasia: a new (p.Val124Serfs) RUNX2 mutation. Clin Dysmorphol. 19(3):150-2, 2010
                                                      5. D'Alessandro G et al: Cleidocranial dysplasia: etiology and stomatognathic and craniofacial abnormalities. Minerva Stomatol. 59(3):117-27, 2010
                                                      6. Marchisella C et al: Identification of a novel RUNX2 gene mutation in an Italian family with cleidocranial dysplasia. Eur J Orthod. Epub ahead of print, 2010
                                                      7. Suda N et al: Correlation between genotype and supernumerary tooth formation in cleidocranial dysplasia. Orthod Craniofac Res. 13(4):197-202, 2010
                                                      8. Broad Spectrum of Skeletal Malformation Complex in Patients with Cleidocranial Dysplasia Syndrome: Radiographic and Tomographic Study
                                                      9. Molecular genetics of supernumerary tooth formation.