Management of Limb Deformities in Skeletal Dysplasia
Volume 11 | Issue 1 | Januar-April 2025 | Page: 44-50 | Binu T Kurian, Aditi Pinto, James A Fernandes
DOI- https://doi.org/10.13107/ijpo.2025.v11.i01.222
Open Access License: CC BY-NC 4.0
Copyright Statement: Copyright © 2025; The Author(s).
Submitted: 29/01/2025; Reviewed: 22/02/2025; Accepted: 17/03/2025; Published: 10/04/2025
Authors: Binu T Kurian MS Ortho [1], Aditi Pinto MS Ortho [1], James A Fernandes FRCS Tr & Ortho [2]
[1] Department of Orthopaedics, St. John’s Medical College, Hospital, Bangalore, Karnataka, India.
[2] Department of Orthopaedics, Sheffield Children’s Hospital NHS Trust Sheffield S10 4 NH United Kingdom
Address of Correspondence
Dr. Binu T Kurian,
Department of Orthopaedics St. John’s Medical College, Hospital, Bangalore, Karnataka, India.
E-mail: binu.k@stjohns.in
Abstract
Skeletal Dysplasia encompasses a diverse group of genetic conditions that predominantly affect bone and cartilage formation. The clinical assessment of these conditions requires a detailed family history to assess the genetic inheritance patterns and physical examination of the limb length discrepancies, joint laxity, spinal alignment, and gait abnormalities to identify deviations from normal skeletal development. Pharmacological therapy consists of Bisphosphonates to improve the bone density in conditions like osteogenesis imperfecta. Surgical procedures include Growth modulation techniques, limb lengthening procedures, corrective osteotomies and joint reconstructions. A Detailed genetic counselling is key to parents with a history of skeletal dysplasia in the family to assess recurrence risks, explore reproductive options, and guide personalized treatment strategies. With advancements in gene therapy, 3D navigation and patient specific implants and prosthesis there is a promising future in the management of limb deformities in Skeletal dysplasia
Keywords: Skeletal Dysplasia, Lower limb deformity, Guided Growth, Limb Lengthening
References
1.Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, et al. Nosology of genetic skeletal disorders: 2023 revision. Am J Med Genet A. 2023 May 1;191(5):1164–209.
2. Barbosa-Buck CO, Orioli IM, da Graça Dutra M, Lopez-Camelo J, Castilla EE, Cavalcanti DP. Clinical epidemiology of skeletal dysplasias in South America. Am J Med Genet A. 2012 May;158 A (5):1038–45.
3. Stevenson DA, Carey JC, Byrne JLB, Srisukhumbowornchai S, Feldkamp ML. Analysis of skeletal dysplasias in the Utah population. Am J Med Genet A. 2012 May;158 A (5):1046–54.
4.Varghese B, Fernandes J, Skeletal dysplasia. A guide to the orthopaedic surgeon, Orthopaedics and Trauma (2016), http://dx.doi.org/10.1016/j.mporth.2016.09.003
5. Mindler GT, Stauffer A, Chiari C, Mladenov K, Horn J. Achondroplasia current concept of orthopaedic management. J Child Orthop. 2024 Aug 27;18(5):461-476. doi: 10.1177/18632521241269340. PMID: 39391573; PMCID: PMC11463089
6. Legare JM. Achondroplasia. 1998 Oct 12 [updated 2023 May 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A (eds.) GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle, 1993–2024
7. Marzin P, Cormier-Daire V. New perspectives on the treatment of skeletal dysplasia. Ther Adv Endocrinol Metab. 2020 Mar 3; 11:2042018820904016. doi: 10.1177/2042018820904016. PMID: 32166011; PMCID: PMC7054735.
8. Cho SY, Jin DK. Guidelines for genetic skeletal dysplasias for pediatricians. Ann Pediatr Endocrinol Metab. 2015 Dec;20(4):187-91. doi: 10.6065/apem.2015.20.4.187. Epub 2015 Dec 31. PMID: 26817005; PMCID: PMC4722157.
9. Krakow D, Rimoin DL. The skeletal dysplasias. Genet Med 2010; 12:327-41.
10. DL R, RS L. Principles and practice of medical genetics. 3 ed. New York: Churchill Livingstone, 1997
11. Handa A, Grigelioniene G, Nishimura G. Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis. Radiographics. 2023 May;43(5): e220067. doi: 10.1148/rg.220067. PMID: 37053103.
12. Garjian KV, Pretorius DH, Budorick NE, Cantrell CJ, Johnson DD, Nelson TR. Fetal skeletal dysplasia: three dimensional US: initial experience. Radiology 2000; 214:717-23
13. Byers PH, Wallis GA and Willing MC. Osteogenesis imperfecta: translation of mutation to phenotype. J Med Genet 1991; 28: 433–442.
14.Tauer JT, Robinson ME and Rauch F. Osteogenesis imperfecta: new perspectives from clinical and translational research. JBMR Plus 2019; 3: e10174.
15.Simm PJ, Biggin A, Zacharin MR, et al. Consensus guidelines on the use of bisphosphonate therapy in children and adolescents. J Paediatr Child Health 2018; 54: 223–233
16. Wendt DJ, Dvorak-Ewell M, Bullens S, et al. Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism. J Pharmacol Exp Ther 2015; 353: 132–149.
17. Peracha H, Sawamoto K, Averill L, et al. Molecular genetics and metabolism, special edition: diagnosis, diagnosis and prognosis of mucopolysaccharidosis IVA. Mol Genet Metab 2018; 125: 18–37.
18. The Role of Physical Medicine and Rehabilitation in Managing Skeletal Dysplasia. Int J Phys Med Rehabil. S29:004.
19.Inan M, Chan G, Bowen JR. Correction of angular deformities of the knee by percutaneous hemiepiphysiodesis. Clin Orthop Relat Res. 2007;456:164–169.
20 . Stevens PM. Guided growth for angular correction: a preliminary series using a tension band plate. J Pediatr Orthop. 2007;27:253–259.
21. Babu LV, Evans O, Sankar A, Davies AG, Jones S, Fernandes JA. Epiphysiodesis for limb length discrepancy: a comparison of two methods. Strategies Trauma Limb Reconstr. 2014 Apr;9(1):1-3. doi: 10.1007/s11751-013-0180-9. Epub 2013 Nov 23. PMID: 24271553; PMCID: PMC3951623.
22. Lie CW, Chow W. Limb lengthening in short-stature patients using monolateral and circular external fixators. Hong Kong Med J 2009;15:280-4
23.Nicolaou N, Luo Q, Giles SN, Maruthainar K, Kitchen MP, Thomas S, Fernandes JA, Roposch A. Mechanical Analysis of Explanted Telescopic Rods in the Management of Osteogenesis Imperfecta: A Multicenter Study. J Pediatr Orthop. 2021 Jul 1;41(6): e448-e456. doi: 10.1097/BPO.0000000000001796. PMID: 33734203.
24. Fadel M, Hosny G (2005) The Taylor spatial frame for deformity correction in the lower limbs. Int Orthop 29:125–129
25. Hosny GA. Limb lengthening history, evolution, complications and current concepts. J Othop Traumatol. 2020 Mar 5;21(1):3. doi: 10.1186/s10195-019-0541-3. PMID: 32140790; PMCID: PMC7058770.
26. Goiano EO, Akkari M, Costa PH, Makishi MR, Santili C. TREATMENT OF OSTEOGENESIS IMPERFECTA USING THE FASSIER-DUVAL TELESCOPIC ROD. Acta Ortop Bras. 2023 Sep 8;31(spe3): e266775. doi: 10.1590/1413-785220233103e266775. PMID: 37720808; PMCID: PMC10502982.
27. Kirane YM, Fragomen AT, Rozbruch SR (2014) Precision of the PRECICE internal bone lengthening nail. Clin Orthop Relat Res 472(12):3869–3878
28. Al-Sayyad MJ (2012) Lower limb lengthening and deformity correction using the fitbone motorized nail system in the adolescent patient. J Pediatr Orthop B 21(2):131–136
29.Kenawey M, Krettek C, Liodakis E, Wiebking U, Hankemeier S (2011) Leg lengthening using intramedullary skeletal kinetic distractor: results of 57 consecutive applications. Injury. 42(2):150–155
30. Metikala S, Kurian BT, Madan SS, Fernandes JA. Pelvic Support Hip Reconstruction with Internal Devices: An Alternative to Ilizarov Hip Reconstruction. Strategies Trauma Limb Reconstr. 2020 May-Aug;15(2):91-97. doi: 10.5005/jp-journals-10080-1459. PMID: 33505525; PMCID: PMC7801897.
31. Kurian BT, Belthur MV, Jones S, et al. Correction of Bowleg Deformity in Achondroplasia through Combined Bony Realignment and Lateral Collateral Ligament Tightening. Strategies Trauma Limb Reconstr 2019;14(3):132–138.
32.Ain MC, Andres BM, Somel DS, Fishkin Z, Frassica FJ. Total hip arthroplasty in skeletal dysplasias: patient selection, preoperative planning, and operative techniques. J Arthroplasty. 2004 Jan;19(1):1-7. doi: 10.1016/s0883-5403(03)00455-8. PMID: 14716642.
33. Song D, Maher CO. Spinal disorders associated with skeletal dysplasias and syndromes. Neurosurg Clin N Am. 2007;18(3):499–514.
34. Savarirayan R, Bompadre V, Bober MB, Cho TJ, Goldberg MJ, Hoover Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SS, White KK. Skeletal Dysplasia Management Consortium. Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders. Genet Med. https://doi.org/10.1038/s41436-019-0446-9
35. White KK, Bompadre V, Shah SA, Redding GJ, Krengel WF, Mackenzie WG. Early-onset spinal deformity in skeletal dysplasias: A multicenter study of growth-friendly systems. Spine Deform. 2018;6(4):478–82.
36.Chilbule SK, Dutt V, Madhuri V. Limb lengthening in achondroplasia. Indian J Orthop. 2016 Jul-Aug;50(4):397-405. doi: 10.4103/0019-5413.185604. PMID: 27512222; PMCID: PMC4964773.
37. Constantinides, C., Landis, S. H., Jarrett, J., Quinn, J., & Ireland, P. J. (2021). Quality of life, physical functioning, and psychosocial function among patients with achondroplasia: a targeted literature review. Disability and Rehabilitation, 44(21), 6166–6178. https://doi.org/10.1080/09638288.2021.1963853
38. Cetin B, Erendor F, Eksi YE, Sanlioglu AD, Sanlioglu S. Advancing CRISPR genome editing into gene therapy clinical trials: progress and future prospects. Expert Rev Mol Med. 2025 Mar 31;27: e16. doi: 10.1017/erm.2025.10. PMID: 40160040; PMCID: PMC12094669.
39. Carpenter TO, Whyte MP, Imel EA, et al. Burosumab therapy in children with X-linked hypophosphatemia. N Engl J Med 2018; 378: 1987–1998.
40. Dhuri K, Bechtold C, Quijano E, Pham H, Gupta A, Vikram A, Bahal R. Antisense Oligonucleotides: An Emerging Area in Drug Discovery and Development. J Clin Med. 2020 Jun 26;9(6):2004. doi: 10.3390/jcm9062004. PMID: 32604776; PMCID: PMC7355792.
41. Otsuru S, Gordon PL, Shimono K, et al. Transplanted bone marrow mononuclear cells and MSCs impart clinical benefit to children with osteogenesis imperfecta through different mechanisms. Blood 2012; 120: 1933–1941.
42. Wewel JT, Godzik J, Uribe JS. The utilization of minimally invasive surgery techniques for the treatment of spinal deformity. J Spine Surg. 2019 Jun;5(Suppl 1): S84-S90. doi: 10.21037/jss.2019.04.22. PMID: 31380496; PMCID: PMC6626752.
| How to Cite this Article: Kurian BT, Pinto A, Fernandes JA. Management of Limb Deformities in Skeletal Dysplasia. International Journal of Paediatric Orthopaedics. January-April 2025; 11(1): 44-50 . |
