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Cleidocranial Dysplasia
Caroline D. Robson, MBChB
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Cleidocranial dysplasia (CCD)
            • Synonyms

              • Cleidocranial dysostosis
            • Definitions

              • Rare autosomal dominant skeletal dysplasia due to defective intramembranous & endochondral ossification

            IMAGING

            • General Features

              • Radiographic Findings

                • CT Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            Selected References

                            1. Gonzalez GE et al: Craniofacial and temporal bone CT findings in cleidocranial dysplasia. Pediatr Radiol. 38(8):892-7, 2008
                            2. Visosky AM et al: Otolaryngological manifestations of cleidocranial dysplasia, concentrating on audiological findings. Laryngoscope. 113(9):1508-14, 2003
                            3. Otto F et al: Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat. 19(3):209-16, 2002
                            4. Dhooge I et al: Hearing loss as a presenting symptom of cleidocranial dysplasia. Otol Neurotol. 22(6):855-7, 2001
                            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

                                      • Abbreviations

                                        • Cleidocranial dysplasia (CCD)
                                      • Synonyms

                                        • Cleidocranial dysostosis
                                      • Definitions

                                        • Rare autosomal dominant skeletal dysplasia due to defective intramembranous & endochondral ossification

                                      IMAGING

                                      • General Features

                                        • Radiographic Findings

                                          • CT Findings

                                            • Imaging Recommendations

                                              DIFFERENTIAL DIAGNOSIS

                                                PATHOLOGY

                                                • General Features

                                                  CLINICAL ISSUES

                                                  • Presentation

                                                    • Demographics

                                                      Selected References

                                                      1. Gonzalez GE et al: Craniofacial and temporal bone CT findings in cleidocranial dysplasia. Pediatr Radiol. 38(8):892-7, 2008
                                                      2. Visosky AM et al: Otolaryngological manifestations of cleidocranial dysplasia, concentrating on audiological findings. Laryngoscope. 113(9):1508-14, 2003
                                                      3. Otto F et al: Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Hum Mutat. 19(3):209-16, 2002
                                                      4. Dhooge I et al: Hearing loss as a presenting symptom of cleidocranial dysplasia. Otol Neurotol. 22(6):855-7, 2001