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Achondroplasia
Jeffrey S. Ross, MD
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KEY FACTS

  • Imaging

    • Top Differential Diagnoses

      • Pathology

        • Clinical Issues

          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. 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
                                          2. 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
                                          3. 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
                                          4. 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
                                          5. Park HW et al: Correction of lumbosacral hyperlordosis in achondroplasia. Clin Orthop. (414):242-9, 2003
                                          6. 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
                                          7. Thomeer RT et al: Surgical treatment of lumbar stenosis in achondroplasia. J Neurosurg. 96(3 Suppl):292-7, 2002
                                          8. Gordon N: The neurological complications of achondroplasia. Brain Dev. 22(1):3-7, 2000
                                          9. Keiper GL Jr et al: Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. Pediatr Neurosurg. 31(2):78-83, 1999
                                          10. Lemyre E et al: Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. Can Assoc Radiol J. 50(3):185-97, 1999
                                          11. Lachman RS: Neurologic abnormalities in the skeletal dysplasias: a clinical and radiological perspective. Am J Med Genet. 69(1):33-43, 1997
                                          12. Taybi H et al: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 4th ed. St. Louis: Mosby. 748-55, 1996
                                          13. Hall JG: Information update on Achondroplasia. Pediatrics. 95(4):620, 1995
                                          14. Ryken TC et al: Cervicomedullary compression in achondroplasia. J Neurosurg. 81(1):43-8, 1994
                                          15. Hecht JT et al: Neurologic morbidity associated with achondroplasia. J Child Neurol. 5(2):84-97, 1990
                                          16. Fortuna A et al: Narrowing of thoraco-lumbar spinal canal in achondroplasia. J Neurosurg Sci. 33(2):185-96, 1989
                                          17. 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
                                          18. Thomas IT et al: Magnetic resonance imaging in the assessment of medullary compression in achondroplasia. Am J Dis Child. 142(9):989-92, 1988
                                          19. 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

                                          • Imaging

                                            • Top Differential Diagnoses

                                              • Pathology

                                                • Clinical Issues

                                                  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. 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
                                                                                  2. 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
                                                                                  3. 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
                                                                                  4. 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
                                                                                  5. Park HW et al: Correction of lumbosacral hyperlordosis in achondroplasia. Clin Orthop. (414):242-9, 2003
                                                                                  6. 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
                                                                                  7. Thomeer RT et al: Surgical treatment of lumbar stenosis in achondroplasia. J Neurosurg. 96(3 Suppl):292-7, 2002
                                                                                  8. Gordon N: The neurological complications of achondroplasia. Brain Dev. 22(1):3-7, 2000
                                                                                  9. Keiper GL Jr et al: Achondroplasia and cervicomedullary compression: prospective evaluation and surgical treatment. Pediatr Neurosurg. 31(2):78-83, 1999
                                                                                  10. Lemyre E et al: Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update. Can Assoc Radiol J. 50(3):185-97, 1999
                                                                                  11. Lachman RS: Neurologic abnormalities in the skeletal dysplasias: a clinical and radiological perspective. Am J Med Genet. 69(1):33-43, 1997
                                                                                  12. Taybi H et al: Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 4th ed. St. Louis: Mosby. 748-55, 1996
                                                                                  13. Hall JG: Information update on Achondroplasia. Pediatrics. 95(4):620, 1995
                                                                                  14. Ryken TC et al: Cervicomedullary compression in achondroplasia. J Neurosurg. 81(1):43-8, 1994
                                                                                  15. Hecht JT et al: Neurologic morbidity associated with achondroplasia. J Child Neurol. 5(2):84-97, 1990
                                                                                  16. Fortuna A et al: Narrowing of thoraco-lumbar spinal canal in achondroplasia. J Neurosurg Sci. 33(2):185-96, 1989
                                                                                  17. 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
                                                                                  18. Thomas IT et al: Magnetic resonance imaging in the assessment of medullary compression in achondroplasia. Am J Dis Child. 142(9):989-92, 1988
                                                                                  19. Beighton P et al: Gibbal achondroplasia. J Bone Joint Surg Br. 63-B(3):328-9, 1981