Tag Archive for: Arthrogryposis

Lower Limb Deformity Management in Arthrogryposis – What to Correct and When

Volume 10 | Issue 2 | May-August 2024 | Page: 00-00 | Ishani P Shah, Sujika Ranmuthuge, Varun Parnami, Anastasios Chytas 

DOI- https://doi.org/10.13107/ijpo.2024.v10.i02.000

Submitted: 18/05/2024; Reviewed: 06/06/2024; Accepted: 16/07/2024; Published: 10/08/2024

Authors: Ishani P Shah DNB Ortho. FRCS (T & O) [1], Sujika Ranmuthuge MD, FRCS (T & O) [1], Varun Parnami DNB Ortho. [1], Anastasios Chytas MD, MSc [1]

[1] Department of Paediatric Orthopaedic Surgery, Royal Manchester Children’s Hospital, Oxford Road, M13 9WL

Address of Correspondence

Dr. Ishani P Shah,
Consultant Paediatric Orthopaedic Surgeon, Royal Manchester Children’s Hospital, Oxford Road, M13 9WL.
E-mail: ishanipshah@gmail.com

Abstract

Arthrogryposis is a descriptive term involving non – progressive joint contractures of two or more joints at birth. It is associated with more than 300 diseases. Lower limb involvement is seen in about 95% of the cases with variable affection of the foot, knee and hip. Management depends on the severity, affection of number of joints and co-morbidities. Multidisciplinary management is crucial with realistic expectations. Prognosis should be discussed with parents prior to undertaking surgical intervention, especially the risk of recurrence as age advances. Deformities include soft tissue contractures, fibrotic hypoplastic muscles and in older children, deformed articular congruity. Foot is most commonly affected and Ponseti casting is the gold standard first line of treatment. Failed correction or late presentations are treated with soft tissue/bony surgery and/or fixator. Knee contractures can be flexion or extension with or without joint subluxation and patella involvement. Options for management are serial casting, soft tissue release, growth modulation, bony surgery, gradual correction with fixator or a combination of these based on the severity and age at presentation. Pterygium management is difficult due to proximity of neurovascular structures to the skin web and higher risk of recurrence. Hip contractures and dislocation when unilateral should be treated surgically. Treatment of bilateral affection is controversial and should be individualised.
Keywords: 

References

1. Bevan, W.P., et al., Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective. J Pediatr Orthop, 2007. 27(5): p. 594-600.
2. Hall, J.G., Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop B, 1997. 6(3): p. 159-66.
3. Sells, J.M., K.M. Jaffe, and J.G. Hall, Amyoplasia, the most common type of arthrogryposis: the potential for good outcome. Pediatrics, 1996. 97(2): p. 225-31.
4. Hall, J.G., K.A. Aldinger, and K.I. Tanaka, Amyoplasia revisited. Am J Med Genet A, 2014. 164A(3): p. 700-30.
5. Hansen-Jaumard, D., et al., A review of the orthopedic interventions and functional outcomes among a cohort of 114 children with arthrogryposis multiplex congenita. J Pediatr Rehabil Med, 2020. 13(3): p. 263-271.
6. Swinyard, C.A. and E.E. Bleck, The etiology of arthrogryposis (multiple congenital contracture). Clin Orthop Relat Res, 1985(194): p. 15-29.
7. Ooishi, T., et al., Congenital dislocation of the knee. Its pathologic features and treatment. Clin Orthop Relat Res, 1993(287): p. 187-92.
8. Hoffer, M.M., et al., Ambulation in severe arthrogryposis. J Pediatr Orthop, 1983. 3(3): p. 293-6.
9. Harold J.P. van Bosse, D.A.Z., The Orthopaedic Management of Arthrogryposis Multiplex Congenita. Journal of the Pediatric Orthopaedic Society of North America, 2021. 3(2): p. 277.
10. Carlson, W.O., et al., Arthrogryposis multiplex congenita. A long-term follow-up study. Clin Orthop Relat Res, 1985(194): p. 115-23.
11. Staheli, L.T., et al., Management of hip dislocations in children with arthrogryposis. J Pediatr Orthop, 1987. 7(6): p. 681-5.
12. St Clair, H.S. and S. Zimbler, A plan of management and treatment results in the arthrogrypotic hip. Clin Orthop Relat Res, 1985(194): p. 74-80.
13. Szoke, G., et al., Medial-approach open reduction of hip dislocation in amyoplasia-type arthrogryposis. J Pediatr Orthop, 1996. 16(1): p. 127-30.
14. van Bosse, H.J.P., et al., Treatment of the Lower Extremity Contracture/Deformities. J Pediatr Orthop, 2017. 37 Suppl 1: p. S16-S23.
15. Wada, A., et al., Surgical treatment of hip dislocation in amyoplasia-type arthrogryposis. J Pediatr Orthop B, 2012. 21(5): p. 381-5.
16. Yau, P.W., et al., Twenty-year follow-up of hip problems in arthrogryposis multiplex congenita. J Pediatr Orthop, 2002. 22(3): p. 359-63.
17. Nema, S.K., et al., Open reduction for hip dislocation in children with arthrogryposis multiplex congenital: Outcomes of a systematic review. J Clin Orthop Trauma, 2024. 53: p. 102434.
18. Sarwark, J.F., G.D. MacEwen, and C.I. Scott, Jr., Amyoplasia (a common form of arthrogryposis). J Bone Joint Surg Am, 1990. 72(3): p. 465-9.
19. Miao, M., et al., Early open reduction of dislocated hips using a modified Smith-Petersen approach in arthrogyposis multiplex congenita. BMC Musculoskelet Disord, 2020. 21(1): p. 144.
20. Hamdy, R.C., et al., Treatment and outcomes of arthrogryposis in the lower extremity. Am J Med Genet C Semin Med Genet, 2019. 181(3): p. 372-384.
21. van Bosse, H.J. and R.E. Saldana, Reorientational Proximal Femoral Osteotomies for Arthrogrypotic Hip Contractures. J Bone Joint Surg Am, 2017. 99(1): p. 55-64.
22. Guidera, K.J., et al., Radiographic changes in arthrogrypotic knees. Skeletal Radiol, 1991. 20(3): p. 193-5.
23. Sodergard, J. and S. Ryoppy, The knee in arthrogryposis multiplex congenita. J Pediatr Orthop, 1990. 10(2): p. 177-82.
24. Murray, C. and J.A. Fixsen, Management of knee deformity in classical arthrogryposis multiplex congenita (amyoplasia congenita). J Pediatr Orthop B, 1997. 6(3): p. 186-91.
25. Brunner, R., F. Hefti, and J.D. Tgetgel, Arthrogrypotic joint contracture at the knee and the foot: correction with a circular frame. J Pediatr Orthop B, 1997. 6(3): p. 192-7.
26. Thomas, B., et al., The knee in arthrogryposis. Clin Orthop Relat Res, 1985(194): p. 87-92.
27. Eriksson, M., et al., Gait in children with arthrogryposis multiplex congenita. J Child Orthop, 2010. 4(1): p. 21-31.
28. Palmer, P.M., et al., Passive motion therapy for infants with arthrogryposis. Clin Orthop Relat Res, 1985(194): p. 54-9.
29. Ponten, E., Management of the knees in arthrogryposis. J Child Orthop, 2015. 9(6): p. 465-72.
30. Drummond DS, S.T., Cruess RL, Management of arthrogryposis multiplex congenita. Instr Course Lect, 1974. 23: p. 79-95.
31. Ho, C.A. and L.A. Karol, The utility of knee releases in arthrogryposis. J Pediatr Orthop, 2008. 28(3): p. 307-13.
32. Palocaren, T., et al., Anterior distal femoral stapling for correcting knee flexion contracture in children with arthrogryposis–preliminary results. J Pediatr Orthop, 2010. 30(2): p. 169-73.
33. Klatt, J. and P.M. Stevens, Guided growth for fixed knee flexion deformity. J Pediatr Orthop, 2008. 28(6): p. 626-31.
34. Herzenberg, J.E., et al., Mechanical distraction for treatment of severe knee flexion contractures. Clin Orthop Relat Res, 1994(301): p. 80-8.
35. DelBello, D.A. and H.G. Watts, Distal femoral extension osteotomy for knee flexion contracture in patients with arthrogryposis. J Pediatr Orthop, 1996. 16(1): p. 122-6.
36. Yang, S.S., et al., Ambulation gains after knee surgery in children with arthrogryposis. J Pediatr Orthop, 2010. 30(8): p. 863-9.
37. Feldman, D.S., T.J. Rand, and A.J. Huser, Novel Approach to Improving Knee Range of Motion in Arthrogryposis with a New Working Classification. Children (Basel), 2021. 8(7).
38. van Bosse, H.J., et al., Treatment of knee flexion contractures in patients with arthrogryposis. J Pediatr Orthop, 2007. 27(8): p. 930-7.
39. Aman, M., et al., Comparative analysis of surgical treatment modalities for a popliteal pterygium: a meta-analysis. Arch Orthop Trauma Surg, 2024. 144(5): p. 2449-2459.
40. Curtis, B.H. and R.L. Fisher, Congenital hyperextension with anterior subluxation of the knee. Surgical treatment and long-term observations. J Bone Joint Surg Am, 1969. 51(2): p. 255-69.
41. Oetgen, M.E., et al., Functional results after surgical treatment for congenital knee dislocation. J Pediatr Orthop, 2010. 30(3): p. 216-23.
42. Shah, N.R., N. Limpaphayom, and M.B. Dobbs, A minimally invasive treatment protocol for the congenital dislocation of the knee. J Pediatr Orthop, 2009. 29(7): p. 720-5.
43. Johnson, E., R. Audell, and W.L. Oppenheim, Congenital dislocation of the knee. J Pediatr Orthop, 1987. 7(2): p. 194-200.
44. Roy, D.R. and A.H. Crawford, Percutaneous quadriceps recession: a technique for management of congenital hyperextension deformities of the knee in the neonate. J Pediatr Orthop, 1989. 9(6): p. 717-9.
45. Fucs, P.M., et al., Quadricepsplasty in arthrogryposis (amyoplasia): long-term follow-up. J Pediatr Orthop B, 2005. 14(3): p. 219-24.
46. Kowalczyk, B. and J. Felus, Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies. Arch Med Sci, 2016. 12(1): p. 10-24.
47. Morcuende, J.A., M.B. Dobbs, and S.L. Frick, Results of the Ponseti method in patients with clubfoot associated with arthrogryposis. Iowa Orthop J, 2008. 28: p. 22-6.
48. Matar, H.E., P. Beirne, and N. Garg, The effectiveness of the Ponseti method for treating clubfoot associated with arthrogryposis: up to 8 years follow-up. J Child Orthop, 2016. 10(1): p. 15-8.
49. van Bosse, H.J.P., Challenging clubfeet: the arthrogrypotic clubfoot and the complex clubfoot. J Child Orthop, 2019. 13(3): p. 271-281.
50. Drummond, D.S. and R.L. Cruess, The management of the foot and ankle in arthrogryposis multiplex congenita. J Bone Joint Surg Br, 1978. 60(1): p. 96-9.
51. Niki, H., L.T. Staheli, and V.S. Mosca, Management of clubfoot deformity in amyoplasia. J Pediatr Orthop, 1997. 17(6): p. 803-7.
52. Guidera, K.J. and J.C. Drennan, Foot and ankle deformities in arthrogryposis multiplex congenita. Clin Orthop Relat Res, 1985(194): p. 93-8.
53. Chergui, S., et al., Talectomy for arthrogrypotic foot deformities: A systematic review. Foot Ankle Surg, 2023. 29(1): p. 15-21.
54. Segal, L.S., et al., Equinovarus deformity in arthrogryposis and myelomeningocele: evaluation of primary talectomy. Foot Ankle, 1989. 10(1): p. 12-6.
55. Eidelman, M. and A. Katzman, Treatment of arthrogrypotic foot deformities with the Taylor Spatial Frame. J Pediatr Orthop, 2011. 31(4): p. 429-34.
56. El Barbary, H., H. Abdel Ghani, and M. Hegazy, Correction of relapsed or neglected clubfoot using a simple Ilizarov frame. Int Orthop, 2004. 28(3): p. 183-6.
57. Chalayon, O., A. Adams, and M.B. Dobbs, Minimally invasive approach for the treatment of non-isolated congenital vertical talus. J Bone Joint Surg Am, 2012. 94(11): p. e73.
58. Bouchard, M., An Algorithmic Approach to the Congenital Vertical Talus. Journal of the Pediatric Orthopaedic Society of North America, 2022. 4(1): p. 398.

How to Cite this Article:  Shah IP, Ranmuthuge S, Parnami V, Chytas A | Lower Limb Deformity Management in Arthrogryposis – What to Correct and When | International Journal of Paediatric Orthopaedics | May-August 2024; 10(2): 09-16.
https://doi.org/10.13107/ijpo.2024.v10.i02.184

(Article Text HTML)      (Full Text PDF)

Bruck Syndrome (Bone Fragility with Congenital Joint Contractures): A Case Report

Volume 7 | Issue 3 | September-December 2021 | Page: 29-34 | Gaurav Gupta, Qaisur Rabbi, Maulin Shah, Vikas Bohra
DOI-10.13107/ijpo.2021.v07i03.120

Authors: Deepika A. Pinto MS DNB Orth. [1], Sandeep V. Vaidya MS DNB Orth. [1]

[1] Department of Paediatric Orthopaedics, Pinnacle Ortho Center, LBS Road, Thane West, Maharashtra, India.

Address of Correspondence
Dr. Deepika A. Pinto,
Clinical Associate in Paediatric Orthopaedics, Pinnacle Ortho Center, LBS Road, Thane West, Maharashtra, India.
E-mail: deepupinto@gmail.com

Abstract

Background: Bruck syndrome is a disorder in which features of osteogenesis imperfecta and arthrogryposis multiplex congenita coexist. It is an extremely rare condition with less than 40 cases reported worldwide.
Case presentation: We describe the case of a girl child, born of a consanguineous marriage, who, at birth, was noted to have flexion contractures of both knees and elbows as well as right clubfoot. Post-natally, she developed repetitive fractures of both femurs occurring with trivial trauma. She presented to us at the age 8.5 years, with short stature and inability to stand due to the severe knee flexion contractures. She also had flexion contractures at bilateral elbows. Intelligence and fine motor skills were normal. Sclerae, teeth and hearing were also normal. Radiographs revealed osteoporosis, severely deformed femora and vertebral body flattening. A diagnosis of Bruck syndrome was made on the basis of clinical findings. Genetic testing was offered, but declined by the child’s parents. She has since undergone osteotomies and rodding for both femurs, and bilateral distal femoral anterior hemi-epiphysiodesis for gradual correction of knee contractures. She is on cyclical pamidronate therapy to address bone fragility.
Conclusion: In this report, we describe the diagnostic features and management of this rare syndrome, and provide a summary of the existing literature on the disorder.
Keywords: Bruck syndrome, Osteogenesis imperfecta, Arthrogryposis, Congenital joint contractures, Bone fragility

References

1. Orpha.net. Bruck Syndrome. https://www.orpha.net/consor/cgibin/OC_Exp.php?lng=en&Expert=2771 Accessed 24th July 2020.
2. Sharma NL, Anand JS. Osteogenesis Imperfecta with Arthrogryposis Multiplex Congenita. J Indian Med Assoc. 1964;43:124–6.
3. Datta V, Sinha A, Saili A, Nangia S. Bruck syndrome. Indian J Pediatr. 2005;72(5):441–2.
4. Viljoen D, Versfeld G, Beighton P. Osteogenesis imperfecta with congenital joint contractures (Bruck Syndrome). Clin Genet. 1989;36(2):122–6.
5. Ha-Vinh R, Alanay Y, Bank RA, Campos-Xavier AB, Zankl A, Superti-Furga A, et al. Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet Part A. 2004;131A(2):115–20.
6. van der Slot AJ, Zuurmond A-M, Bardoel AFJ, Wijmenga C, Pruijs HEH, Sillence DO, et al. Identification of PLOD2 as Telopeptide Lysyl Hydroxylase, an Important Enzyme in Fibrosis. J Biol Chem. 2003;278(42):40967–72.
7. Shaheen R, Al-Owain M, Faqeih E, Al-Hashmi N, Awaji A, Al-Zayed Z, et al. Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. Am J Med Genet Part A. 2011;155(6):1448–52.
8. Bank RA, Robins SP, Wijmenga C, Breslau-Siderius LJ, Bardoel AFJ, Van der Sluijs HA, et al. Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17. Proc Natl Acad Sci. 1999;96(3):1054–8.
9. Mokete L, Robertson A, Viljoen D, Beighton P. Bruck syndrome: congenital joint contractures with bone fragility. J Orthop Sci. 2005;10(6):641–6.
10. Breslau-Siderius EJ, Engelbert RHB, Pals G, van der Sluijs JA. Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures. J Pediatr Orthop B. 1998;7(1):35–8.
11. Moravej H, Karamifar H, Karamizadeh Z, Amirhakimi G, Atashi S, Nasirabadi S. Bruck syndrome – a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation. Endokrynol Pol. 2015;66(2):170–4.
12. Luce L, Casale M, Waldron S. A Rare Case of Bruck Syndrome Type 2 in Siblings With Broad Phenotypic Variability. Ochsner J. 2020;20(2):204–8.
13. Puig-Hervás MT, Temtamy S, Aglan M, Valencia M, Martínez-Glez V, Ballesta-Martínez MJ, et al. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum. Hum Mutat. 2012;33(10):1444–9.
14. Boyce AM, Gafni RI. Approach to the Child with Fractures. J Clin Endocrinol Metab. 2011;96(7):1943–52.
15. Alman B, Goldberg MJ. Syndromes of Orthopaedic Importance. In: Lowell and Winter’s Pediatric Orthopaedics. 7th ed. Lippincott Williams & Wilkins; 2014. p. 266.
16. Otaify GA, Aglan MS, Ibrahim MM, Elnashar M, El Banna RAS, Temtamy SA. Zoledronic acid in children with osteogenesis imperfecta and Bruck syndrome: a 2-year prospective observational study. Osteoporos Int. 2016;27(1):81–92.
17. Santana A, Oleas-Santillán G, Franzone JM, Nichols LR, Bowen JR, Kruse RW. Orthopedic Manifestations of Bruck Syndrome: A Case Series with Intermediate to Long-term Follow-Up. Case Rep Orthop. 2019;2019:8014038.

How to Cite this Article:  Pinto AD, Vaidya SV | Bruck Syndrome (Bone Fragility with Congenital Joint Contractures): A Case Report. | September-December 2021; 7(3): 29-34.

(Article Text HTML)      (Full Text PDF)