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Achondroplasia
Kevin R. Moore, MD; Jeffrey S. Ross, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Achondroplastic dwarfism
              • Definitions

                • Autosomal dominant dwarfism affecting spine and extremities
                • OMIM #100800

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Nonvascular Interventions

                        • Imaging Recommendations

                          • Ultrasonographic Findings

                            DIFFERENTIAL DIAGNOSIS

                              PATHOLOGY

                              • General Features

                                • Gross Pathologic & Surgical Features

                                  CLINICAL ISSUES

                                  • Presentation

                                    • Demographics

                                      • Natural History & Prognosis

                                        • Treatment

                                          DIAGNOSTIC CHECKLIST

                                          • Consider

                                            • Image Interpretation Pearls

                                              Selected References

                                              1. Ceroni JRM et al: Natural history of 39 patients with Achondroplasia. Clinics (Sao Paulo). 73:e324, 2018
                                              2. Yecies D et al: Safety of dynamic magnetic resonance imaging of the cervical spine in children performed without neurosurgical supervision. World Neurosurg. 116:e1188-e93, 2018
                                              3. Calandrelli R et al: Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia. Neuroradiology. 59(10):1031-41, 2017
                                              4. Ahmed M et al: The natural history of thoracolumbar kyphosis in achondroplasia. Eur Spine J. ePub, 2016
                                              5. Khan BI et al: Prevalence of scoliosis and thoracolumbar kyphosis in patients with achondroplasia. Spine Deform. 4(2):145-8, 2016
                                              6. Mukherjee D et al: Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series. J Neurosurg Pediatr. 14(3):238-44, 2014
                                              7. Borkhuu B et al: Factors related to progression of thoracolumbar kyphosis in children with achondroplasia: a retrospective cohort study of forty-eight children treated in a comprehensive orthopaedic center. Spine (Phila Pa 1976). 34(16):1699-705, 2009
                                              8. Srikumaran U et al: Pedicle and spinal canal parameters of the lower thoracic and lumbar vertebrae in the achondroplast population. Spine (Phila Pa 1976). 32(22):2423-31, 2007
                                              9. Keny SM et al: Morphometric determinants of the sagittal dimensions of the cervical spinal canal in achondroplasia: an analysis of the reliability of the Torg ratio. J Spinal Disord Tech. 19(7):523-7, 2006
                                              10. Park HW et al: Correction of lumbosacral hyperlordosis in achondroplasia. Clin Orthop. (414):242-9, 2003
                                              11. Tanaka N et al: The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. Endocr J. 50(1):69-75, 2003
                                              12. Thomeer RT et al: Surgical treatment of lumbar stenosis in achondroplasia. J Neurosurg. 96(3 Suppl):292-7, 2002
                                              13. Gordon N: The neurological complications of achondroplasia. Brain Dev. 22(1):3-7, 2000
                                              14. Keiper GL Jr et al: Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. Pediatr Neurosurg. 31(2):78-83, 1999
                                              15. Lemyre E et al: Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. Can Assoc Radiol J. 50(3):185-97, 1999
                                              16. Lachman RS: Neurologic abnormalities in the skeletal dysplasias: a clinical and radiological perspective. Am J Med Genet. 69(1):33-43, 1997
                                              17. Taybi H et al: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 4th ed. St. Louis: Mosby. 748-55, 1996
                                              18. Hall JG: Information update on Achondroplasia. Pediatrics. 95(4):620, 1995
                                              19. Ryken TC et al: Cervicomedullary compression in achondroplasia. J Neurosurg. 81(1):43-8, 1994
                                              20. Hecht JT et al: Neurologic morbidity associated with achondroplasia. J Child Neurol. 5(2):84-97, 1990
                                              21. Fortuna A et al: Narrowing of thoraco-lumbar spinal canal in achondroplasia. J Neurosurg Sci. 33(2):185-96, 1989
                                              22. Kao SC et al: MR imaging of the craniovertebral junction, cranium, and brain in children with achondroplasia. AJR Am J Roentgenol. 153(3):565-9, 1989
                                              23. Thomas IT et al: Magnetic resonance imaging in the assessment of medullary compression in achondroplasia. Am J Dis Child. 142(9):989-92, 1988
                                              24. Beighton P et al: Gibbal achondroplasia. J Bone Joint Surg Br. 63-B(3):328-9, 1981
                                              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

                                                            • Achondroplastic dwarfism
                                                          • Definitions

                                                            • Autosomal dominant dwarfism affecting spine and extremities
                                                            • OMIM #100800

                                                          IMAGING

                                                          • General Features

                                                            • Radiographic Findings

                                                              • CT Findings

                                                                • MR Findings

                                                                  • Nonvascular Interventions

                                                                    • Imaging Recommendations

                                                                      • Ultrasonographic Findings

                                                                        DIFFERENTIAL DIAGNOSIS

                                                                          PATHOLOGY

                                                                          • General Features

                                                                            • Gross Pathologic & Surgical Features

                                                                              CLINICAL ISSUES

                                                                              • Presentation

                                                                                • Demographics

                                                                                  • Natural History & Prognosis

                                                                                    • Treatment

                                                                                      DIAGNOSTIC CHECKLIST

                                                                                      • Consider

                                                                                        • Image Interpretation Pearls

                                                                                          Selected References

                                                                                          1. Ceroni JRM et al: Natural history of 39 patients with Achondroplasia. Clinics (Sao Paulo). 73:e324, 2018
                                                                                          2. Yecies D et al: Safety of dynamic magnetic resonance imaging of the cervical spine in children performed without neurosurgical supervision. World Neurosurg. 116:e1188-e93, 2018
                                                                                          3. Calandrelli R et al: Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia. Neuroradiology. 59(10):1031-41, 2017
                                                                                          4. Ahmed M et al: The natural history of thoracolumbar kyphosis in achondroplasia. Eur Spine J. ePub, 2016
                                                                                          5. Khan BI et al: Prevalence of scoliosis and thoracolumbar kyphosis in patients with achondroplasia. Spine Deform. 4(2):145-8, 2016
                                                                                          6. Mukherjee D et al: Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series. J Neurosurg Pediatr. 14(3):238-44, 2014
                                                                                          7. Borkhuu B et al: Factors related to progression of thoracolumbar kyphosis in children with achondroplasia: a retrospective cohort study of forty-eight children treated in a comprehensive orthopaedic center. Spine (Phila Pa 1976). 34(16):1699-705, 2009
                                                                                          8. Srikumaran U et al: Pedicle and spinal canal parameters of the lower thoracic and lumbar vertebrae in the achondroplast population. Spine (Phila Pa 1976). 32(22):2423-31, 2007
                                                                                          9. Keny SM et al: Morphometric determinants of the sagittal dimensions of the cervical spinal canal in achondroplasia: an analysis of the reliability of the Torg ratio. J Spinal Disord Tech. 19(7):523-7, 2006
                                                                                          10. Park HW et al: Correction of lumbosacral hyperlordosis in achondroplasia. Clin Orthop. (414):242-9, 2003
                                                                                          11. Tanaka N et al: The comparison of the effects of short-term growth hormone treatment in patients with achondroplasia and with hypochondroplasia. Endocr J. 50(1):69-75, 2003
                                                                                          12. Thomeer RT et al: Surgical treatment of lumbar stenosis in achondroplasia. J Neurosurg. 96(3 Suppl):292-7, 2002
                                                                                          13. Gordon N: The neurological complications of achondroplasia. Brain Dev. 22(1):3-7, 2000
                                                                                          14. Keiper GL Jr et al: Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. Pediatr Neurosurg. 31(2):78-83, 1999
                                                                                          15. Lemyre E et al: Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. Can Assoc Radiol J. 50(3):185-97, 1999
                                                                                          16. Lachman RS: Neurologic abnormalities in the skeletal dysplasias: a clinical and radiological perspective. Am J Med Genet. 69(1):33-43, 1997
                                                                                          17. Taybi H et al: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 4th ed. St. Louis: Mosby. 748-55, 1996
                                                                                          18. Hall JG: Information update on Achondroplasia. Pediatrics. 95(4):620, 1995
                                                                                          19. Ryken TC et al: Cervicomedullary compression in achondroplasia. J Neurosurg. 81(1):43-8, 1994
                                                                                          20. Hecht JT et al: Neurologic morbidity associated with achondroplasia. J Child Neurol. 5(2):84-97, 1990
                                                                                          21. Fortuna A et al: Narrowing of thoraco-lumbar spinal canal in achondroplasia. J Neurosurg Sci. 33(2):185-96, 1989
                                                                                          22. Kao SC et al: MR imaging of the craniovertebral junction, cranium, and brain in children with achondroplasia. AJR Am J Roentgenol. 153(3):565-9, 1989
                                                                                          23. Thomas IT et al: Magnetic resonance imaging in the assessment of medullary compression in achondroplasia. Am J Dis Child. 142(9):989-92, 1988
                                                                                          24. Beighton P et al: Gibbal achondroplasia. J Bone Joint Surg Br. 63-B(3):328-9, 1981