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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. 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
                                  2. Beck AE et al: Genotype-phenotype relationships in Freeman-Sheldon syndrome. Am J Med Genet A. 164A(11):2808-13, 2014
                                  3. Hall JG: Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. Eur J Med Genet. 57(8):464-72, 2014
                                  4. Rink BD: Arthrogryposis: a review and approach to prenatal diagnosis. Obstet Gynecol Surv. 66(6):369-77, 2011
                                  5. Navti OB et al: Review of perinatal management of arthrogryposis at a large UK teaching hospital serving a multiethnic population. Prenat Diagn. 30(1):49-56, 2010
                                  6. Attali R et al: Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet. 18(18):3462-9, 2009
                                  7. Bamshad M et al: Arthrogryposis: a review and update. J Bone Joint Surg Am. 91 Suppl 4:40-6, 2009
                                  8. Dane B et al: Arthrogryposis multiplex congenita: analysis of twelve cases. Clin Exp Obstet Gynecol. 36(4):259-62, 2009
                                  9. Fassier A et al: Arthrogryposis multiplex congenita. Long-term follow-up from birth until skeletal maturity. J Child Orthop. 3(5):383-90, 2009
                                  10. Burke G et al: Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. Neurology. 61(6):826-8, 2003
                                  11. Sung SS et al: Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 72(3):681-90, 2003
                                  12. Sung SS et al: Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet. 73(1):212-4, 2003
                                  13. Witters I et al: Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses. Am J Med Genet. 113(1):23-8, 2002
                                  14. Hausmanowa-Petrusewicz I: Phenotype and genotype correlation in childhood spinal muscular atrophy. Neurol Neurochir Pol. 35 Suppl 3:29-35, 2001
                                  15. Witters I et al: Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence. Genet Couns. 12(1):91-4, 2001
                                  16. Coelho KE et al: Misoprostol embryotoxicity: clinical evaluation of fifteen patients with arthrogryposis. Am J Med Genet. 95(4):297-301, 2000
                                  17. Krakowiak PA et al: Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B). Am J Med Genet. 76(1):93-8, 1998
                                  18. Bamshad M et al: A revised and extended classification of the distal arthrogryposes. Am J Med Genet. 65(4):277-81, 1996
                                  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. 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
                                                                  2. Beck AE et al: Genotype-phenotype relationships in Freeman-Sheldon syndrome. Am J Med Genet A. 164A(11):2808-13, 2014
                                                                  3. Hall JG: Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. Eur J Med Genet. 57(8):464-72, 2014
                                                                  4. Rink BD: Arthrogryposis: a review and approach to prenatal diagnosis. Obstet Gynecol Surv. 66(6):369-77, 2011
                                                                  5. Navti OB et al: Review of perinatal management of arthrogryposis at a large UK teaching hospital serving a multiethnic population. Prenat Diagn. 30(1):49-56, 2010
                                                                  6. Attali R et al: Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet. 18(18):3462-9, 2009
                                                                  7. Bamshad M et al: Arthrogryposis: a review and update. J Bone Joint Surg Am. 91 Suppl 4:40-6, 2009
                                                                  8. Dane B et al: Arthrogryposis multiplex congenita: analysis of twelve cases. Clin Exp Obstet Gynecol. 36(4):259-62, 2009
                                                                  9. Fassier A et al: Arthrogryposis multiplex congenita. Long-term follow-up from birth until skeletal maturity. J Child Orthop. 3(5):383-90, 2009
                                                                  10. Burke G et al: Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes. Neurology. 61(6):826-8, 2003
                                                                  11. Sung SS et al: Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 72(3):681-90, 2003
                                                                  12. Sung SS et al: Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet. 73(1):212-4, 2003
                                                                  13. Witters I et al: Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses. Am J Med Genet. 113(1):23-8, 2002
                                                                  14. Hausmanowa-Petrusewicz I: Phenotype and genotype correlation in childhood spinal muscular atrophy. Neurol Neurochir Pol. 35 Suppl 3:29-35, 2001
                                                                  15. Witters I et al: Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence. Genet Couns. 12(1):91-4, 2001
                                                                  16. Coelho KE et al: Misoprostol embryotoxicity: clinical evaluation of fifteen patients with arthrogryposis. Am J Med Genet. 95(4):297-301, 2000
                                                                  17. Krakowiak PA et al: Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B). Am J Med Genet. 76(1):93-8, 1998
                                                                  18. Bamshad M et al: A revised and extended classification of the distal arthrogryposes. Am J Med Genet. 65(4):277-81, 1996