Skip to main content
SpringerLink
Log in

Arthrogryposis

  • Chapter
Book cover Pediatric Lower Limb Deformities

Abstract

Arthrogryposis is a general term that encompasses a multitude of different disorders with the commonality of multiple congenital contractures. Arthrogryposis can be classified into three main groups, according to the presence or absence of associated visceral and central nervous system involvement. Amyoplasia is the most common form of arthrogryposis and typically affects all four extremities. The lower limbs, including the feet, knees, and hips, are often affected, requiring surgical interventions and rehabilitation. Clubfoot deformity or talipes equinovarus is the most common foot deformity in arthrogryposis. The knee is the second joint most commonly affected. Knee contractures can be the most disabling deformity as they impair mobility and impact lower limb alignment. The spine and upper limbs may also be affected. This chapter presents the diagnostic approach for children with arthrogryposis, as well as the general management of the lower limbs, with an emphasis on amyoplasia. Multidisciplinary treatment of the child with arthrogryposis with a focus on early intervention and continued follow-up is warranted to promote functional ambulation and autonomy in performing activities of everyday life.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 99.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 129.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 199.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Hall JG. Overview of arthrogryposis. In: Staheli LT, Hall JG, Jaffe KM, Paholke DO, editors. Arthrogryposis: a text atlas. Cambridge, UK: Cambridge University Press; 1998. p. 1–24.

    Google Scholar 

  2. Hall JG. Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B. 1997;6(3):159–66.

    Article  CAS  PubMed  Google Scholar 

  3. Hall JG. Arthrogryposes (multiple congenital contractures). In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, editors. Emery and Rimoin’s principles and practice of medical genetics, vol. 3. 5th ed. Philadelphia: Churchill Livingstone-Elsevier; 2007. p. 3785–856.

    Google Scholar 

  4. Bamshad M, Van Heest AE, Pleasure D. Arthrogryposis: a review and update. J Bone Joint Surg Am. 2009;91 Suppl 4:40–6.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Fahy MJ, Hall JG. A retrospective study of pregnancy complications among 828 cases of arthrogryposis. Genet Couns. 1990;1(1):3–11.

    CAS  PubMed  Google Scholar 

  6. Navti OB, Kinning E, Vasudevan P, Barrow M, Porter H, Howarth E, et al. Review of perinatal management of arthrogryposis at a large UK teaching hospital serving a multiethnic population. Prenat Diagn. 2010;30(1):49–56.

    CAS  PubMed  Google Scholar 

  7. Lowry RB, Sibbald B, Bedard T, Hall JG. Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. Birth Defects Res A Clin Mol Teratol. 2010;88(12):1057–61.

    Article  CAS  PubMed  Google Scholar 

  8. Beals RK, Weleber RG. Distal arthrogryposis 5: a dominant syndrome of peripheral contractures and ophthalmoplegia. Am J Med Genet A. 2004;131(1):67–70.

    Article  PubMed  Google Scholar 

  9. Coste B, Houge G, Murray MF, Stitziel N, Bandell M, Giovanni MA, et al. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of distal arthrogryposis. Proc Natl Acad Sci U S A. 2013;110(12):4667–72.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Hall JG, Reed SD, Greene G. The distal arthrogryposes: delineation of new entities – review and nosologic discussion. Am J Med Genet. 1982;11(2):185–239.

    Article  CAS  PubMed  Google Scholar 

  11. Sells JM, Jaffe KM, Hall JG. Amyoplasia, the most common type of arthrogryposis: the potential for good outcome. Pediatrics. 1996;97(2):225–31.

    CAS  PubMed  Google Scholar 

  12. Alvarado DM, Buchan JG, Gurnett CA, Dobbs MB. Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. J Bone Joint Surg Am. 2011;93(11):1045–50.

    Article  PubMed  PubMed Central  Google Scholar 

  13. Attali R, Warwar N, Israel A, Gurt I, McNally E, Puckelwartz M, et al. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet. 2009;18(18):3462–9.

    Article  CAS  PubMed  Google Scholar 

  14. Hofmann K, Becker J, Heller R, Boute O, Andrieux J, Hoyer J, et al. 7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). Eur J Med Genet. 2011;54(5):e495–500.

    Article  PubMed  Google Scholar 

  15. Shaheen R, Al-Owain M, Khan A, Zaki M, Hossni H, Al-Tassan R, et al. Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D. Clin Genet. 2013;6.

    Google Scholar 

  16. Spencer HT, Bowen RE, Caputo K, Green TA, Lawrence JF. Bone mineral density and functional measures in patients with arthrogryposis. J Pediatr Orthop. 2010;30(5):514–8.

    Article  PubMed  Google Scholar 

  17. Bernstein RM. Arthrogryposis and amyoplasia. J Am Acad Orthop Surg. 2002;10(6):417–24.

    Article  PubMed  Google Scholar 

  18. Fassier A, Wicart P, Dubousset J, Seringe R. Arthrogryposis multiplex congenita. Long-term follow-up from birth until skeletal maturity. J Child Orthop. 2009;3(5):383–90.

    Article  PubMed  PubMed Central  Google Scholar 

  19. Yang SS, Dahan-Oliel N, Montpetit K, Hamdy RC. Ambulation gains after knee surgery in children with arthrogryposis. J Pediatr Orthop. 2010;30(8):863–9.

    Article  PubMed  Google Scholar 

  20. Eriksson M, Gutierrez-Farewik EM, Broström E, Bartonek A. Gait in children with arthrogryposis multiplex congenita. J Child Orthop. 2010;4(1):21–31.

    Article  PubMed  PubMed Central  Google Scholar 

  21. Staheli LT, Chew DE, Elliott JS, Mosca VS. Management of hip dislocations in children with arthrogryposis. J Pediatr Orthop. 1987;7(6):681–5.

    Article  CAS  PubMed  Google Scholar 

  22. Cassis N, Capdevila R. Talectomy for clubfoot in arthrogryposis. J Pediatr Orthop. 2000;20(5):652–5.

    Article  CAS  PubMed  Google Scholar 

  23. Drummond DS, Cruess RL. The management of the foot and ankle in arthrogryposis multiplex congenita. J Bone Joint Surg Br. 1978;60(1):96–9.

    CAS  PubMed  Google Scholar 

  24. van Bosse HJ, Marangoz S, Lehman WB, Sala DA. Correction of arthrogrypotic clubfoot with a modified Ponseti technique. Clin Orthop Relat Res. 2009;467(5):1283–93.

    Article  PubMed  PubMed Central  Google Scholar 

  25. Zimbler S, Craig CL. The arthrogrypotic foot plan of management and results of treatment. Foot Ankle. 1983;3(4):211–9.

    Article  CAS  PubMed  Google Scholar 

  26. Brunner R, Hefti F, Tgetgel JD. Arthrogrypotic joint contracture at the knee and the foot: correction with a circular frame. J Pediatr Orthop B. 1997;6(3):192–7.

    Article  CAS  PubMed  Google Scholar 

  27. Eidelman M, Katzman A. Treatment of arthrogrypotic foot deformities with the Taylor Spatial Frame. J Pediatr Orthop. 2011;31(4):429–34.

    Article  PubMed  Google Scholar 

  28. Chang CH, Huang SC. Surgical treatment of clubfoot deformity in arthrogryposis multiplex congenita. J Formos Med Assoc. 1997;96(1):30–5.

    CAS  PubMed  Google Scholar 

  29. Iskandar HN, Bishay SN, Sharaf-El-Deen HA, El-Sayed MM. Tarsal decancellation in the residual resistant arthrogrypotic clubfoot. Ann R Coll Surg Engl. 2011;93(2):139–45.

    Article  PubMed  PubMed Central  Google Scholar 

  30. Aroojis AJ, King MM, Donohoe M, Riddle EC, Kumar SJ. Congenital vertical talus in arthrogryposis and other contractural syndromes. Clin Orthop Relat Res. 2005;434:26–32.

    Article  PubMed  Google Scholar 

  31. Alaee F, Boehm S, Dobbs MB. A new approach to the treatment of congenital vertical talus. J Child Orthop. 2007;1(3):165–74.

    Article  PubMed  PubMed Central  Google Scholar 

  32. Hamdy RH. Chapter 4.3: congenital vertical talus. In: Cramer KE, Scherl SA, Tornetta III P, Einhorn TA, editors. Pediatrics (orthopaedic surgery essentials series). Philadelphia: Lippincott Williams & Wilkins; 2003. p. 24–31.

    Google Scholar 

  33. Lampasi M, Antonioli D, Donzelli O. Management of knee deformities in children with arthrogryposis. Musculoskelet Surg. 2012;96(3):161–9.

    Article  PubMed  Google Scholar 

  34. Ho CA, Karol LA. The utility of knee releases in arthrogryposis. J Pediatr Orthop. 2008;28(3):307–13.

    Article  PubMed  Google Scholar 

  35. Murray C, Fixsen J. Management of knee deformity in classical arthrogryposis multiplex congenita (amyoplasia congenita). J Pediatr Orthop B. 1997;6:186–91.

    Article  CAS  PubMed  Google Scholar 

  36. van Bosse HJP, Feldman DS, Anavian J, Sala DA. Treatment of knee flexion contractures in patients with arthrogryposis. J Pediatr Orthop. 2007;27:930–7.

    Article  PubMed  Google Scholar 

  37. Södergård J, Ryöppy S. The knee in arthrogryposis multiplex congenita. J Pediatr Orthop. 1990;10(2):177–82.

    Article  PubMed  Google Scholar 

  38. Al-Aubaidi Z, Lundgaard B, Pedersen NW. Anterior distal femoral hemiepiphysiodesis in the treatment of fixed knee flexion contracture in neuromuscular patients. J Child Orthop. 2012;6(4):313–8.

    Article  PubMed  PubMed Central  Google Scholar 

  39. Palocaren T, Thabet AM, Rogers K, Holmes Jr L, Donohoe M, King MM, et al. Anterior distal femoral stapling for correcting knee flexion contracture in children with arthrogryposis – preliminary results. J Pediatr Orthop. 2010;30(2):169–73.

    Article  PubMed  Google Scholar 

  40. DelBello DA, Watts HG. Distal femoral extension osteotomy for knee flexion contracture in patients with arthrogryposis. J Pediatr Orthop. 1996;16(1):122–6.

    Article  CAS  PubMed  Google Scholar 

  41. Fucs PM, Svartman C, de Assumpção RM, Lima Verde SR. Quadricepsplasty in arthrogryposis (amyoplasia): long-term follow-up. J Pediatr Orthop B. 2005;14(3):219–24.

    Article  PubMed  Google Scholar 

  42. St Clair HS, Zimbler S. A plan of management and treatment results in the arthrogrypotic hip. Clin Orthop Relat Res. 1985;194:74–80.

    PubMed  Google Scholar 

  43. Stilli S, Antonioli D, Lampasi M, Donzelli O. Management of hip contractures and dislocations in arthrogryposis. Musculoskelet Surg. 2012;96(1):17–21.

    Article  PubMed  Google Scholar 

  44. Huurman WW, Jacobsen ST. The hip in arthrogryposis multiplex congenita. Clin Orthop Relat Res. 1985;194:81–6.

    PubMed  Google Scholar 

  45. Sarwark JF, MacEwen GD, Scott Jr CI. Amyoplasia (a common form of arthrogryposis). J Bone Joint Surg Am. 1990;72(3):465–9.

    CAS  PubMed  Google Scholar 

  46. Canavese F, Sussman MD. Orthopaedic manifestations of congenital myotonic dystrophy during childhood and adolescence. J Pediatr Orthop. 2009;29(2):208–13.

    Article  PubMed  Google Scholar 

  47. Wada A, Yamaguchi T, Nakamura T, Yanagida H, Takamura K, Oketani Y, et al. Surgical treatment of hip dislocation in amyoplasia-type arthrogryposis. J Pediatr Orthop B. 2012;21(5):381–5.

    Article  PubMed  Google Scholar 

  48. Ezaki M. Treatment of the upper limb in the child with arthrogryposis. Hand Clin. 2000;16(4):703–11.

    CAS  PubMed  Google Scholar 

  49. Axt MW, Niethard FU, Döderlein L, Weber M. Principles of treatment of the upper extremity in arthrogryposis multiplex congenita type I. J Pediatr Orthop B. 1997;6(3):179–85.

    Article  CAS  PubMed  Google Scholar 

  50. La Grone M. Spine. In: Staheli LT, Hall JG, Jaffe KM, Paholke DO, editors. Arthrogryposis: a text atlas. Cambridge, UK: Cambridge University Press; 1998. p. 51–3.

    Google Scholar 

  51. Oppenheim WL, Larson KR, McNabb MB, Smith CF, Setoguchi Y. Popliteal pterygium syndrome: an orthopaedic perspective. J Pediatr Orthop. 1990;10(1):58–64.

    CAS  PubMed  Google Scholar 

  52. Staheli LT. Lower extremity management. In: Staheli LT, Hall JG, Jaffe KM, Paholke DO, editors. Arthrogryposis: a text atlas. Cambridge, UK: Cambridge University Press; 1998. p. 55–73.

    Google Scholar 

  53. Sakaura H, Matsuoka T, Iwasaki M, Yonenobu K, Yoshikawa H. Surgical treatment of cervical kyphosis in Larsen syndrome: report of 3 cases and review of the literature. Spine (Phila Pa 1976). 2007;32(1):E39–44.

    Article  Google Scholar 

  54. Amor CJ, Spaeth MC, Chafey DH, Gogola GR. Use of the pediatric outcomes data collection instrument to evaluate functional outcomes in arthrogryposis. J Pediatr Orthop. 2011;31(3):293–6.

    Article  PubMed  Google Scholar 

  55. Dillon ER, Bjornson KF, Jaffe KM, Hall JG, Song K. Ambulatory activity in youth with arthrogryposis: a cohort study. J Pediatr Orthop. 2009;29(2):214–7.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Pediatric Orthopedics, Department of Orthopedics, Shriners Hospital for Children, McGill University, 1529 Cedar Avenue, Montreal, QC, Canada, H3G 1A6

    Reggie Hamdy MD

  2. Clinical Research/Rehabilitation, Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, QC, Canada, H3G 1A6

    Noémi Dahan-Oliel PhD, OT

Authors
  1. Reggie Hamdy MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Noémi Dahan-Oliel PhD, OT
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Reggie Hamdy MD .

Editor information

Editors and Affiliations

  1. Professor, Department of Orthopedics; Chief, Division of Pediatric Orthopedics, Rutgers-New Jersey Medical School, Newark, New Jersey, USA

    Sanjeev Sabharwal

Rights and permissions

Reprints and permissions

Copyright information

© 2016 Springer International Publishing Switzerland

About this chapter

Cite this chapter

Hamdy, R., Dahan-Oliel, N. (2016). Arthrogryposis. In: Sabharwal, S. (eds) Pediatric Lower Limb Deformities. Springer, Cham. https://doi.org/10.1007/978-3-319-17097-8_18

Download citation

  • DOI: https://doi.org/10.1007/978-3-319-17097-8_18

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-17096-1

  • Online ISBN: 978-3-319-17097-8

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation