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

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Cleidocranial dysostosis
              • Scheuthauer-Marie-Sainton disease
            • Definitions

              • Delayed ossification of midline structures, which are formed through intramembranous ossification

            IMAGING

            • General Features

              • Imaging Recommendations

                • Radiographic Findings

                  • MR Findings

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          Selected References

                          1. Berkay EG et al: Skeletal and molecular findings in 51 cleidocranial dysplasia patients from Turkey. Am J Med Genet A. 185(8):2488-95, 2021
                          2. Hardy A et al: Cleidocranial dysplasia with bilateral posterior glenohumeral dislocation: a case-report. Orthop Traumatol Surg Res. 101(1):119-22, 2015
                          3. Pawłowska E et al: Expression of RUNX2 and its signaling partners TCF7, FGFR1/2 in cleidocranial dysplasia. Acta Biochim Pol. 62(1):123-6, 2015
                          4. Bhargava P et al: Cleidocranial dysplasia with autosomal dominant inheritance pattern. Ann Med Health Sci Res. 4(Suppl 2):S152-4, 2014
                          5. Martins RB et al: Cleidocranial dysplasia: report of six clinical cases. Spec Care Dentist. 34(3):144-50, 2014
                          6. Singh S et al: Cleidocranial dysplasia: a case report illustrating diagnostic clinical and radiological findings. J Clin Diagn Res. 8(6):ZD19-20, 2014
                          7. Al Kaissi A et al: Broad spectrum of skeletal malformation complex in patients with cleidocranial dysplasia syndrome: radiographic and tomographic study. Clin Med Insights Arthritis Musculoskelet Disord. 6:45-55, 2013
                          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

                                      • Cleidocranial dysostosis
                                      • Scheuthauer-Marie-Sainton disease
                                    • Definitions

                                      • Delayed ossification of midline structures, which are formed through intramembranous ossification

                                    IMAGING

                                    • General Features

                                      • Imaging Recommendations

                                        • Radiographic Findings

                                          • MR Findings

                                            DIFFERENTIAL DIAGNOSIS

                                              PATHOLOGY

                                              • General Features

                                                CLINICAL ISSUES

                                                • Presentation

                                                  Selected References

                                                  1. Berkay EG et al: Skeletal and molecular findings in 51 cleidocranial dysplasia patients from Turkey. Am J Med Genet A. 185(8):2488-95, 2021
                                                  2. Hardy A et al: Cleidocranial dysplasia with bilateral posterior glenohumeral dislocation: a case-report. Orthop Traumatol Surg Res. 101(1):119-22, 2015
                                                  3. Pawłowska E et al: Expression of RUNX2 and its signaling partners TCF7, FGFR1/2 in cleidocranial dysplasia. Acta Biochim Pol. 62(1):123-6, 2015
                                                  4. Bhargava P et al: Cleidocranial dysplasia with autosomal dominant inheritance pattern. Ann Med Health Sci Res. 4(Suppl 2):S152-4, 2014
                                                  5. Martins RB et al: Cleidocranial dysplasia: report of six clinical cases. Spec Care Dentist. 34(3):144-50, 2014
                                                  6. Singh S et al: Cleidocranial dysplasia: a case report illustrating diagnostic clinical and radiological findings. J Clin Diagn Res. 8(6):ZD19-20, 2014
                                                  7. Al Kaissi A et al: Broad spectrum of skeletal malformation complex in patients with cleidocranial dysplasia syndrome: radiographic and tomographic study. Clin Med Insights Arthritis Musculoskelet Disord. 6:45-55, 2013