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Arthrogryposis, Akinesia Sequence
Janice L. B. Byrne, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Diagnostic Checklist

          TERMINOLOGY

          • Synonyms

            • Multiple congenital contractures
            • Fetal akinesia/hypokinesia deformation sequence
            • Arthrogryposis multiplex congenita
            • Pena-Shokeir phenotype
          • Definitions

            • Arthrogryposis refers to symptom complex caused by multiple different etiologies
              • Abnormalities related to lack of fetal movement in utero
            • Multiple congenital joint contractures/ankyloses involving 2 or more body areas
            • Pena-Shokeir phenotype
              • Heterogeneous group of disorders with micrognathia, multiple contractures, camptodactyly (persistent finger flexion), polyhydramnios
              • Many are autosomal recessive
              • Lethal due to pulmonary hypoplasia
            • Distal arthrogryposis
              • Subset of nonprogressive contractures without associated primary neurologic or muscle disease

          IMAGING

          • General Features

            • Ultrasonographic Findings

              • MR Findings

                • Imaging Recommendations

                  DIFFERENTIAL DIAGNOSIS

                    PATHOLOGY

                    • General Features

                      • Microscopic Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Image Interpretation Pearls

                                  Selected References

                                  1. Cao Q et al: Fetal akinesia: the application of clinical exome sequencing in cases with decreased fetal movement. Eur J Obstet Gynecol Reprod Biol. 260:59-63, 2021
                                  2. Filges I et al: Fetal arthrogryposis: challenges and perspectives for prenatal detection and management. Am J Med Genet C Semin Med Genet. 181(3):327-36, 2019
                                  3. Hall JG: Fetal cervical hyperextension in arthrogryposis. Am J Med Genet C Semin Med Genet. 181(3):354-62, 2019
                                  4. Hall JG et al: Classification of arthrogryposis. Am J Med Genet C Semin Med Genet. 181(3):300-3, 2019
                                  5. Niles KM et al: Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-aetiology, diagnosis, and management. Prenat Diagn. 39(9):720-31, 2019
                                  6. Yamaguchi T et al: PIEZO2 deficiency is a recognizable arthrogryposis syndrome: a new case and literature review. Am J Med Genet A. 179(6):948-57, 2019
                                  7. Hall JG et al: Genetics and classifications. J Pediatr Orthop. 37 Suppl 1:S4-8, 2017
                                  8. Hall JG et al: Summary of the 2nd International Symposium on Arthrogryposis, St. Petersburg, Russia, September 17-19, 2014. Am J Med Genet A. 167(6):1193-5, 2015
                                  9. Beck AE et al: Genotype-phenotype relationships in Freeman-Sheldon syndrome. Am J Med Genet A. 164A(11):2808-13, 2014
                                  10. Bamshad M et al: Arthrogryposis: a review and update. J Bone Joint Surg Am. 91 Suppl 4:40-6, 2009
                                  11. Fassier A et al: Arthrogryposis multiplex congenita. Long-term follow-up from birth until skeletal maturity. J Child Orthop. 3(5):383-90, 2009
                                  12. Coelho KE et al: Misoprostol embryotoxicity: clinical evaluation of fifteen patients with arthrogryposis. Am J Med Genet. 95(4):297-301, 2000
                                  Related Anatomy
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                                  Related Differential Diagnoses
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                                  References
                                  Tables

                                  Tables

                                  KEY FACTS

                                  • Terminology

                                    • Imaging

                                      • Top Differential Diagnoses

                                        • Diagnostic Checklist

                                          TERMINOLOGY

                                          • Synonyms

                                            • Multiple congenital contractures
                                            • Fetal akinesia/hypokinesia deformation sequence
                                            • Arthrogryposis multiplex congenita
                                            • Pena-Shokeir phenotype
                                          • Definitions

                                            • Arthrogryposis refers to symptom complex caused by multiple different etiologies
                                              • Abnormalities related to lack of fetal movement in utero
                                            • Multiple congenital joint contractures/ankyloses involving 2 or more body areas
                                            • Pena-Shokeir phenotype
                                              • Heterogeneous group of disorders with micrognathia, multiple contractures, camptodactyly (persistent finger flexion), polyhydramnios
                                              • Many are autosomal recessive
                                              • Lethal due to pulmonary hypoplasia
                                            • Distal arthrogryposis
                                              • Subset of nonprogressive contractures without associated primary neurologic or muscle disease

                                          IMAGING

                                          • General Features

                                            • Ultrasonographic Findings

                                              • MR Findings

                                                • Imaging Recommendations

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      • Microscopic Features

                                                        CLINICAL ISSUES

                                                        • Presentation

                                                          • Demographics

                                                            • Natural History & Prognosis

                                                              • Treatment

                                                                DIAGNOSTIC CHECKLIST

                                                                • Image Interpretation Pearls

                                                                  Selected References

                                                                  1. Cao Q et al: Fetal akinesia: the application of clinical exome sequencing in cases with decreased fetal movement. Eur J Obstet Gynecol Reprod Biol. 260:59-63, 2021
                                                                  2. Filges I et al: Fetal arthrogryposis: challenges and perspectives for prenatal detection and management. Am J Med Genet C Semin Med Genet. 181(3):327-36, 2019
                                                                  3. Hall JG: Fetal cervical hyperextension in arthrogryposis. Am J Med Genet C Semin Med Genet. 181(3):354-62, 2019
                                                                  4. Hall JG et al: Classification of arthrogryposis. Am J Med Genet C Semin Med Genet. 181(3):300-3, 2019
                                                                  5. Niles KM et al: Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-aetiology, diagnosis, and management. Prenat Diagn. 39(9):720-31, 2019
                                                                  6. Yamaguchi T et al: PIEZO2 deficiency is a recognizable arthrogryposis syndrome: a new case and literature review. Am J Med Genet A. 179(6):948-57, 2019
                                                                  7. Hall JG et al: Genetics and classifications. J Pediatr Orthop. 37 Suppl 1:S4-8, 2017
                                                                  8. Hall JG et al: Summary of the 2nd International Symposium on Arthrogryposis, St. Petersburg, Russia, September 17-19, 2014. Am J Med Genet A. 167(6):1193-5, 2015
                                                                  9. Beck AE et al: Genotype-phenotype relationships in Freeman-Sheldon syndrome. Am J Med Genet A. 164A(11):2808-13, 2014
                                                                  10. Bamshad M et al: Arthrogryposis: a review and update. J Bone Joint Surg Am. 91 Suppl 4:40-6, 2009
                                                                  11. Fassier A et al: Arthrogryposis multiplex congenita. Long-term follow-up from birth until skeletal maturity. J Child Orthop. 3(5):383-90, 2009
                                                                  12. Coelho KE et al: Misoprostol embryotoxicity: clinical evaluation of fifteen patients with arthrogryposis. Am J Med Genet. 95(4):297-301, 2000