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Achondroplasia
Cheryl A. Petersilge, MD, MBA
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Synonyms

            • Dwarf; term being replaced by "dysplasia"
            • Little person
          • Definitions

            • Rhizomelic ("root") dwarfism
              • In this dwarfism, shortening is greatest proximally, or at root (meaning humerus, femur)
            • Most common nonlethal short-limbed skeletal dysplasia

          IMAGING

          • General Features

            • Imaging Recommendations

              • Radiographic Findings

                • CT Findings

                  • MR Findings

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              • Natural History & Prognosis

                                • Treatment

                                  DIAGNOSTIC CHECKLIST

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. Bosemani T et al: Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement. Childs Nerv Syst. 31(1):129-33, 2015
                                    2. Chitty LS et al: Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. Prenat Diagn. ePub, 2015
                                    3. Akyol Y et al: Magnetic resonance evaluation of the knee in children and adolescents with achondroplasia. Pediatr Radiol. ePub, 2014
                                    4. Olsen BR: Disease models: Statins give bone growth a boost. Nature. 513(7519):494-5, 2014
                                    5. Panda A et al: Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol. 6(10):808-25, 2014
                                    6. Richette P et al: Achondroplasia: from genotype to phenotype. Joint Bone Spine. 75(2):125-30, 2008
                                    7. Wynne-Davies R et al: Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis. J Bone Joint Surg Br. 63B(4):508-15, 1981
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Pathology

                                          • Clinical Issues

                                            TERMINOLOGY

                                            • Synonyms

                                              • Dwarf; term being replaced by "dysplasia"
                                              • Little person
                                            • Definitions

                                              • Rhizomelic ("root") dwarfism
                                                • In this dwarfism, shortening is greatest proximally, or at root (meaning humerus, femur)
                                              • Most common nonlethal short-limbed skeletal dysplasia

                                            IMAGING

                                            • General Features

                                              • Imaging Recommendations

                                                • Radiographic Findings

                                                  • CT Findings

                                                    • MR Findings

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          • Gross Pathologic & Surgical Features

                                                            CLINICAL ISSUES

                                                            • Presentation

                                                              • Demographics

                                                                • Natural History & Prognosis

                                                                  • Treatment

                                                                    DIAGNOSTIC CHECKLIST

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. Bosemani T et al: Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement. Childs Nerv Syst. 31(1):129-33, 2015
                                                                      2. Chitty LS et al: Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next generation sequencing allows for a safer, more accurate and comprehensive approach. Prenat Diagn. ePub, 2015
                                                                      3. Akyol Y et al: Magnetic resonance evaluation of the knee in children and adolescents with achondroplasia. Pediatr Radiol. ePub, 2014
                                                                      4. Olsen BR: Disease models: Statins give bone growth a boost. Nature. 513(7519):494-5, 2014
                                                                      5. Panda A et al: Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias. World J Radiol. 6(10):808-25, 2014
                                                                      6. Richette P et al: Achondroplasia: from genotype to phenotype. Joint Bone Spine. 75(2):125-30, 2008
                                                                      7. Wynne-Davies R et al: Achondroplasia and hypochondroplasia. Clinical variation and spinal stenosis. J Bone Joint Surg Br. 63B(4):508-15, 1981