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Achondroplasia
Bernadette L. Koch, MD; Caroline D. Robson, MBChB
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Definitions

              • Most common form of skeletal dysplasia resulting in short-limbed dwarfism
              • Most common nonlethal skeletal dysplasia

            IMAGING

            • General Features

              • Radiographic Findings

                • CT Findings

                  • MR Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              • Treatment

                                Selected References

                                1. Hoover-Fong JE et al: Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States. Genet Med. 23(8):1498-505, 2021
                                2. Khalid K et al: Pictorial review: imaging of the spinal manifestations of achondroplasia. Br J Radiol. 94(1123): ePub, 2021
                                3. Shim Y et al: Predictors of cervical myelopathy and hydrocephalus in young children with achondroplasia. Orphanet J Rare Dis. 16(1):81, 2021
                                4. Shoda K et al: Endoscopic third ventriculostomy for hydrocephalus in a patient with achondroplasia: a case report and literature review. Childs Nerv Syst. ePub, 2021
                                5. Kashanian A et al: Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis. Am J Med Genet A. 182(8):1896-905, 2020
                                6. Sarioglu FC et al: Neuroimaging and calvarial findings in achondroplasia. Pediatr Radiol. 50(12):1669-79, 2020
                                7. Pauli RM: Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 14(1):1, 2019
                                8. Manikkam SA et al: Temporal lobe malformations in achondroplasia: expanding the brain imaging phenotype associated with FGFR3-related skeletal dysplasias. AJNR Am J Neuroradiol. 39(2):380-4, 2018
                                9. Collins WO et al: Otolaryngologic manifestations of achondroplasia. Arch Otolaryngol Head Neck Surg. 133(3):237-44, 2007
                                10. Shohat M et al: Hearing loss and temporal bone structure in achondroplasia. Am J Med Genet. 45(5):548-51, 1993
                                11. Cobb SR et al: CT of the temporal bone in achondroplasia. AJNR Am J Neuroradiol. 9(6):1195-9, 1988
                                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

                                          • Definitions

                                            • Most common form of skeletal dysplasia resulting in short-limbed dwarfism
                                            • Most common nonlethal skeletal dysplasia

                                          IMAGING

                                          • General Features

                                            • Radiographic Findings

                                              • CT Findings

                                                • MR Findings

                                                  • Imaging Recommendations

                                                    DIFFERENTIAL DIAGNOSIS

                                                      PATHOLOGY

                                                      • General Features

                                                        CLINICAL ISSUES

                                                        • Presentation

                                                          • Demographics

                                                            • Treatment

                                                              Selected References

                                                              1. Hoover-Fong JE et al: Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States. Genet Med. 23(8):1498-505, 2021
                                                              2. Khalid K et al: Pictorial review: imaging of the spinal manifestations of achondroplasia. Br J Radiol. 94(1123): ePub, 2021
                                                              3. Shim Y et al: Predictors of cervical myelopathy and hydrocephalus in young children with achondroplasia. Orphanet J Rare Dis. 16(1):81, 2021
                                                              4. Shoda K et al: Endoscopic third ventriculostomy for hydrocephalus in a patient with achondroplasia: a case report and literature review. Childs Nerv Syst. ePub, 2021
                                                              5. Kashanian A et al: Improvement in ventriculomegaly following cervicomedullary decompressive surgery in children with achondroplasia and foramen magnum stenosis. Am J Med Genet A. 182(8):1896-905, 2020
                                                              6. Sarioglu FC et al: Neuroimaging and calvarial findings in achondroplasia. Pediatr Radiol. 50(12):1669-79, 2020
                                                              7. Pauli RM: Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 14(1):1, 2019
                                                              8. Manikkam SA et al: Temporal lobe malformations in achondroplasia: expanding the brain imaging phenotype associated with FGFR3-related skeletal dysplasias. AJNR Am J Neuroradiol. 39(2):380-4, 2018
                                                              9. Collins WO et al: Otolaryngologic manifestations of achondroplasia. Arch Otolaryngol Head Neck Surg. 133(3):237-44, 2007
                                                              10. Shohat M et al: Hearing loss and temporal bone structure in achondroplasia. Am J Med Genet. 45(5):548-51, 1993
                                                              11. Cobb SR et al: CT of the temporal bone in achondroplasia. AJNR Am J Neuroradiol. 9(6):1195-9, 1988