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Achondroplasia
Christopher G. Anton, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Definitions

            • Mutations of fibroblast growth factor receptor-3 gene (FGFR3) at chromosome location 4p16.3 underlie achondroplasia & related dysplasias (FGFR3 group)
              • Achondroplasia
                • Most common nonlethal skeletal dysplasia
                • Large cranium; small face & chest; short limbs
              • Hypochondroplasia
                • Milder skeletal dysplasia affecting similar sites
                  • Usually not recognized until child > 2 years old
                  • Severe forms overlap with achondroplasia
                • Milder changes of hands & spine
                • Fibular overgrowth
              • Thanatophoric dysplasia
                • Most common lethal bone dysplasia
                • Lungs cannot ventilate due to short ribs; micromelia

          IMAGING

          • Radiographic Findings

            • Ultrasonographic Findings

              • Other Modality Findings

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    • Microscopic Features

                      CLINICAL ISSUES

                      • Presentation

                        • Demographics

                          • Natural History & Prognosis

                            • Treatment

                              Selected References

                              1. Gajarajulu V et al: The radiograph of the pelvis as a window to skeletal dysplasias. Indian J Pediatr. 83(6):543-52, 2016
                              2. Bouali H et al: Achondroplasia: current options and future perspective. Pediatr Endocrinol Rev. 12(4):388-95, 2015
                              3. Donaldson J et al: Achondroplasia and limb lengthening: Results in a UK cohort and review of the literature. J Orthop. 12(1):31-4, 2015
                              4. Everett TR et al: Cell-free fetal DNA: the new tool in fetal medicine. Ultrasound Obstet Gynecol. 45(5):499-507, 2015
                              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. Boulet S et al: Prenatal diagnosis of achondroplasia: new specific signs. Prenat Diagn. 29(7):697-702, 2009
                              7. Ednick M et al: Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy. J Pediatr. 155(4):510-5, 2009
                              8. King JA et al: Neurosurgical implications of achondroplasia. J Neurosurg Pediatr. 4(4):297-306, 2009
                              9. Shirley ED et al: Achondroplasia: manifestations and treatment. J Am Acad Orthop Surg. 17(4):231-41, 2009
                              10. Richette P et al: Achondroplasia: from genotype to phenotype. Joint Bone Spine. 75(2):125-30, 2008
                              11. Horton WA et al: Achondroplasia. Lancet. 370(9582):162-72, 2007
                              12. Haga N: Management of disabilities associated with achondroplasia. J Orthop Sci. 9(1):103-7, 2004
                              13. Stanley G et al: Observations on the cause of bowlegs in achondroplasia. J Pediatr Orthop. 22(1):112-6, 2002
                              14. Tasker RC et al: Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. Arch Dis Child. 79(2):99-108, 1998
                              Related Anatomy
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                              Related Differential Diagnoses
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                              References
                              Tables

                              Tables

                              KEY FACTS

                              • Terminology

                                • Imaging

                                  • Pathology

                                    • Clinical Issues

                                      TERMINOLOGY

                                      • Definitions

                                        • Mutations of fibroblast growth factor receptor-3 gene (FGFR3) at chromosome location 4p16.3 underlie achondroplasia & related dysplasias (FGFR3 group)
                                          • Achondroplasia
                                            • Most common nonlethal skeletal dysplasia
                                            • Large cranium; small face & chest; short limbs
                                          • Hypochondroplasia
                                            • Milder skeletal dysplasia affecting similar sites
                                              • Usually not recognized until child > 2 years old
                                              • Severe forms overlap with achondroplasia
                                            • Milder changes of hands & spine
                                            • Fibular overgrowth
                                          • Thanatophoric dysplasia
                                            • Most common lethal bone dysplasia
                                            • Lungs cannot ventilate due to short ribs; micromelia

                                      IMAGING

                                      • Radiographic Findings

                                        • Ultrasonographic Findings

                                          • Other Modality Findings

                                            DIFFERENTIAL DIAGNOSIS

                                              PATHOLOGY

                                              • General Features

                                                • Microscopic Features

                                                  CLINICAL ISSUES

                                                  • Presentation

                                                    • Demographics

                                                      • Natural History & Prognosis

                                                        • Treatment

                                                          Selected References

                                                          1. Gajarajulu V et al: The radiograph of the pelvis as a window to skeletal dysplasias. Indian J Pediatr. 83(6):543-52, 2016
                                                          2. Bouali H et al: Achondroplasia: current options and future perspective. Pediatr Endocrinol Rev. 12(4):388-95, 2015
                                                          3. Donaldson J et al: Achondroplasia and limb lengthening: Results in a UK cohort and review of the literature. J Orthop. 12(1):31-4, 2015
                                                          4. Everett TR et al: Cell-free fetal DNA: the new tool in fetal medicine. Ultrasound Obstet Gynecol. 45(5):499-507, 2015
                                                          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. Boulet S et al: Prenatal diagnosis of achondroplasia: new specific signs. Prenat Diagn. 29(7):697-702, 2009
                                                          7. Ednick M et al: Sleep-related respiratory abnormalities and arousal pattern in achondroplasia during early infancy. J Pediatr. 155(4):510-5, 2009
                                                          8. King JA et al: Neurosurgical implications of achondroplasia. J Neurosurg Pediatr. 4(4):297-306, 2009
                                                          9. Shirley ED et al: Achondroplasia: manifestations and treatment. J Am Acad Orthop Surg. 17(4):231-41, 2009
                                                          10. Richette P et al: Achondroplasia: from genotype to phenotype. Joint Bone Spine. 75(2):125-30, 2008
                                                          11. Horton WA et al: Achondroplasia. Lancet. 370(9582):162-72, 2007
                                                          12. Haga N: Management of disabilities associated with achondroplasia. J Orthop Sci. 9(1):103-7, 2004
                                                          13. Stanley G et al: Observations on the cause of bowlegs in achondroplasia. J Pediatr Orthop. 22(1):112-6, 2002
                                                          14. Tasker RC et al: Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study. Arch Dis Child. 79(2):99-108, 1998