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Achondroplasia
Kevin R. Moore, 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

              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. Brouwer PA et al: Cervical high-intensity intramedullary lesions in achondroplasia: aetiology, prevalence and clinical relevance. Eur Radiol. 22(10):2264-72, 2012
                                              2. Vleggeert-Lankamp C et al: Surgical decompression of thoracic spinal stenosis in achondroplasia: indication and outcome. J Neurosurg Spine. 17(2):164-72, 2012
                                              3. Modi HN et al: Magnetic resonance imaging study determining cord level and occupancy at thoracolumbar junction in achondroplasia - A prospective study. Indian J Orthop. 45(1):63-8, 2011
                                              4. Mohindra S et al: Atlanto-axial instability in achondroplastic dwarfs: a report of two cases and literature review. Pediatr Neurosurg. 47(4):284-7, 2011
                                              5. King JA et al: Neurosurgical implications of achondroplasia. J Neurosurg Pediatr. 4(4):297-306, 2009
                                              6. Jha RM et al: Foramen magnum stenosis from overgrowth of the opisthion in a child with achondroplasia. J Neurosurg Pediatr. 2(2):136-8, 2008
                                              7. Yukata K et al: Os odontoideum in achondroplasia: a case report. J Pediatr Orthop B. 17(2):103-5, 2008
                                              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

                                                          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. Brouwer PA et al: Cervical high-intensity intramedullary lesions in achondroplasia: aetiology, prevalence and clinical relevance. Eur Radiol. 22(10):2264-72, 2012
                                                                                          2. Vleggeert-Lankamp C et al: Surgical decompression of thoracic spinal stenosis in achondroplasia: indication and outcome. J Neurosurg Spine. 17(2):164-72, 2012
                                                                                          3. Modi HN et al: Magnetic resonance imaging study determining cord level and occupancy at thoracolumbar junction in achondroplasia - A prospective study. Indian J Orthop. 45(1):63-8, 2011
                                                                                          4. Mohindra S et al: Atlanto-axial instability in achondroplastic dwarfs: a report of two cases and literature review. Pediatr Neurosurg. 47(4):284-7, 2011
                                                                                          5. King JA et al: Neurosurgical implications of achondroplasia. J Neurosurg Pediatr. 4(4):297-306, 2009
                                                                                          6. Jha RM et al: Foramen magnum stenosis from overgrowth of the opisthion in a child with achondroplasia. J Neurosurg Pediatr. 2(2):136-8, 2008
                                                                                          7. Yukata K et al: Os odontoideum in achondroplasia: a case report. J Pediatr Orthop B. 17(2):103-5, 2008