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Metaphyseal Chondrodysplasia
Brian L. Shaffer, MD; Roya Sohaey, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Metaphyseal dysplasia, Jansen type
                • Jansen metaphyseal chondrodysplasia
              • Definitions

                • Severe skeletal dysplasia with metaphyseal involvement and abnormal mineral metabolism

              IMAGING

              • Ultrasonographic Findings

                • Radiographic Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  Selected References

                                  1. Schipani E et al: NORD National Organization for Rare Disorders - Jansen type metaphyseal chondrodysplasia. Accessed January 31, 2021. https://rarediseases.org/rare-diseases/jansen-type-metaphyseal-chondrodysplasia/
                                  2. de França M et al: Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis. Radiol Case Rep. 15(12):2554-6, 2020
                                  3. Jee YH et al: Genetics of short stature. Endocrinol Metab Clin North Am. 46(2):259-81, 2017
                                  4. Nampoothiri S et al: Jansen metaphyseal chondrodysplasia due to heterozygous H223R-PTH1R mutations with or without overt hypercalcemia. J Clin Endocrinol Metab. 101(11):4283-9, 2016
                                  5. Savoldi G et al: Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. Am J Med Genet A. 161A(10):2614-9, 2013
                                  6. Schipani E et al: Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. N Engl J Med. 335(10):708-14, 1996
                                  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

                                            • Diagnostic Checklist

                                              TERMINOLOGY

                                              • Synonyms

                                                • Metaphyseal dysplasia, Jansen type
                                                • Jansen metaphyseal chondrodysplasia
                                              • Definitions

                                                • Severe skeletal dysplasia with metaphyseal involvement and abnormal mineral metabolism

                                              IMAGING

                                              • Ultrasonographic Findings

                                                • Radiographic Findings

                                                  • Imaging Recommendations

                                                    DIFFERENTIAL DIAGNOSIS

                                                      PATHOLOGY

                                                      • General Features

                                                        CLINICAL ISSUES

                                                        • Presentation

                                                          • Demographics

                                                            • Natural History & Prognosis

                                                              • Treatment

                                                                DIAGNOSTIC CHECKLIST

                                                                • Consider

                                                                  Selected References

                                                                  1. Schipani E et al: NORD National Organization for Rare Disorders - Jansen type metaphyseal chondrodysplasia. Accessed January 31, 2021. https://rarediseases.org/rare-diseases/jansen-type-metaphyseal-chondrodysplasia/
                                                                  2. de França M et al: Schmid metaphyseal chondrodysplasia: an example of radiology guidance to molecular diagnosis. Radiol Case Rep. 15(12):2554-6, 2020
                                                                  3. Jee YH et al: Genetics of short stature. Endocrinol Metab Clin North Am. 46(2):259-81, 2017
                                                                  4. Nampoothiri S et al: Jansen metaphyseal chondrodysplasia due to heterozygous H223R-PTH1R mutations with or without overt hypercalcemia. J Clin Endocrinol Metab. 101(11):4283-9, 2016
                                                                  5. Savoldi G et al: Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R. Am J Med Genet A. 161A(10):2614-9, 2013
                                                                  6. Schipani E et al: Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. N Engl J Med. 335(10):708-14, 1996