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Campomelic Dysplasia
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Camptomelic dysplasia
            • Definitions

              • Campomelia = bowed limbs
              • Rare, semilethal osteochondrodystrophy
              • Characterized by bowed extremities with absence of fractures, cutaneous dimpling, hypoplastic scapulae, sex reversal in male patients

            IMAGING

            • Ultrasonographic Findings

              • Postnatal Radiographic Findings

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    CLINICAL ISSUES

                    • Presentation

                      • Demographics

                        • Natural History & Prognosis

                          • Treatment

                            DIAGNOSTIC CHECKLIST

                            • Image Interpretation Pearls

                              Selected References

                              1. Gilligan LA et al: Fetal magnetic resonance imaging of skeletal dysplasias. Pediatr Radiol. 50(2):224-33, 2020
                              2. Csukasi F et al: Dominant-negative SOX9 mutations in campomelic dysplasia. Hum Mutat. 40(12):2344-52, 2019
                              3. Higeta D et al: Familial campomelic dysplasia due to maternal germinal mosaicism. Congenit Anom (Kyoto). 58(6):194-7, 2018
                              4. Patel B et al: When standard genetic testing does not solve the mystery: a rare case of preimplantation genetic diagnosis for campomelic dysplasia in the setting of parental mosaicism. Fertil Steril. 110(4):732-6, 2018
                              5. von Bohlen AE et al: A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia. Mol Genet Genomic Med. 5(3):261-8, 2017
                              6. Jo A et al: The versatile functions of Sox9 in development, stem cells, and human diseases. Genes Dis. 1(2):149-61, 2014
                              7. Akiyama H et al: Unraveling the transcriptional regulatory machinery in chondrogenesis. J Bone Miner Metab. 29(4):390-5, 2011
                              8. Lee YH et al: Sox9 function in craniofacial development and disease. Genesis. 49(4):200-8, 2011
                              9. Wada Y et al: Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia. Am J Med Genet A. 149A(12):2882-5, 2009
                              10. Massardier J et al: Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. Fetal Diagn Ther. 24(4):452-7, 2008
                              11. Smyk M et al: Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. Am J Med Genet A. 143A(8):866-70, 2007
                              12. Zhou G et al: Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci U S A. 103(50):19004-9, 2006
                              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

                                          • Camptomelic dysplasia
                                        • Definitions

                                          • Campomelia = bowed limbs
                                          • Rare, semilethal osteochondrodystrophy
                                          • Characterized by bowed extremities with absence of fractures, cutaneous dimpling, hypoplastic scapulae, sex reversal in male patients

                                        IMAGING

                                        • Ultrasonographic Findings

                                          • Postnatal Radiographic Findings

                                            DIFFERENTIAL DIAGNOSIS

                                              PATHOLOGY

                                              • General Features

                                                CLINICAL ISSUES

                                                • Presentation

                                                  • Demographics

                                                    • Natural History & Prognosis

                                                      • Treatment

                                                        DIAGNOSTIC CHECKLIST

                                                        • Image Interpretation Pearls

                                                          Selected References

                                                          1. Gilligan LA et al: Fetal magnetic resonance imaging of skeletal dysplasias. Pediatr Radiol. 50(2):224-33, 2020
                                                          2. Csukasi F et al: Dominant-negative SOX9 mutations in campomelic dysplasia. Hum Mutat. 40(12):2344-52, 2019
                                                          3. Higeta D et al: Familial campomelic dysplasia due to maternal germinal mosaicism. Congenit Anom (Kyoto). 58(6):194-7, 2018
                                                          4. Patel B et al: When standard genetic testing does not solve the mystery: a rare case of preimplantation genetic diagnosis for campomelic dysplasia in the setting of parental mosaicism. Fertil Steril. 110(4):732-6, 2018
                                                          5. von Bohlen AE et al: A mutation creating an upstream initiation codon in the SOX9 5' UTR causes acampomelic campomelic dysplasia. Mol Genet Genomic Med. 5(3):261-8, 2017
                                                          6. Jo A et al: The versatile functions of Sox9 in development, stem cells, and human diseases. Genes Dis. 1(2):149-61, 2014
                                                          7. Akiyama H et al: Unraveling the transcriptional regulatory machinery in chondrogenesis. J Bone Miner Metab. 29(4):390-5, 2011
                                                          8. Lee YH et al: Sox9 function in craniofacial development and disease. Genesis. 49(4):200-8, 2011
                                                          9. Wada Y et al: Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia. Am J Med Genet A. 149A(12):2882-5, 2009
                                                          10. Massardier J et al: Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases. Fetal Diagn Ther. 24(4):452-7, 2008
                                                          11. Smyk M et al: Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father. Am J Med Genet A. 143A(8):866-70, 2007
                                                          12. Zhou G et al: Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci U S A. 103(50):19004-9, 2006