Pediatric Anterior Cruciate Ligament Tears: Epidemiology, Evaluation, and Evolving Treatment Strategies

Review Article | Volume 11 | Issue 2 | May-August 2025 | Page: 2-10 | Doria L. Weiss, Alexis Carr, Kevin Berardino, Kevin Quindlen, Rachel Talley-Bruns

DOI- https://doi.org/10.13107/ijpo.2025.v11.i02.226

Open Access License: CC BY-NC 4.0

Copyright Statement: Copyright © 2025; The Author(s).

Submitted: 01/06/2025; Reviewed: 30/06/2025; Accepted: 06/07/2025; Published: 10/08/2025


Authors: Doria L. Weiss BS [1] , Alexis Carr BS [1], Kevin Berardino MD [1], Kevin Quindlen MD [1], Rachel Talley-Bruns MD [1]

[1] Westchester Medical Center, Department of Orthopaedic Surgery, Valhalla, NY

Address of Correspondence

Dr. Doria L. Weiss,
Westchester Medical Center, Department of Orthopaedic Surgery, Valhalla, NY.
E-mail: dweiss23@student.nymc.edu


Abstract

Introduction: Anterior cruciate ligament (ACL) tears in pediatric patients are increasingly recognized due to rising sports participation and improved imaging. Given the presence of open physes, treatment decisions must balance the need for knee stability with the risk of growth disturbance. This review outlines current approaches to diagnosis, surgical techniques, graft selection, postoperative rehabilitation, and complications in skeletally immature patients.
Methods: This review summarizes recent literature on pediatric ACL injuries, including epidemiology, injury patterns, surgical management strategies, graft options, rehabilitation protocols, and complication rates. Emphasis is placed on the rationale behind technique selection based on skeletal maturity and long-term outcomes.
Results: Surgical reconstruction has become the preferred treatment for most pediatric ACL injuries to prevent secondary damage and restore knee stability. Several physeal-sparing and transphyseal techniques are available, with selection guided by skeletal age and growth remaining. All-epiphyseal and extraphyseal techniques avoid crossing the physis, while transphyseal reconstruction is safe in adolescents nearing skeletal maturity. Hamstring and quadriceps tendon autografts are most commonly used, while bone–patellar tendon–bone grafts and allografts are generally avoided in younger patients. Graft failure and growth disturbance remain key concerns, with retear rates reaching up to 20% and growth abnormalities occurring in 1–5% of cases. Rehabilitation protocols are evolving toward milestone-based progression, with return to sport typically delayed at least 12 months. However, re-injury rates remain high in this population.
Conclusions: ACL injuries in pediatric patients require a nuanced, age-specific approach. Surgical reconstruction using physeal-respecting or transphyseal techniques offers favorable outcomes when matched to skeletal maturity. Careful graft selection, individualized rehabilitation, and delayed return to sport are essential to optimize results and reduce complications. Ongoing research is needed to refine surgical strategies, compare graft types, and establish evidence-based rehabilitation and return-to-sport guidelines.
Keywords: Paediatrics, Anterior Cruciate Ligament Tears, Epidemiology, Evaluation, Evolving Treatment Strategies


References

1. Duart J, Rigamonti L, Bigoni M, Kocher MS. Pediatric anterior cruciate ligament tears and associated lesions: Epidemiology, diagnostic process, and imaging. J Child Orthop. 2023;17(1):4-11. doi:10.1177/18632521231153277
2. Frank JS, Gambacorta PL. Anterior Cruciate Ligament Injuries in the Skeletally Immature Athlete: Diagnosis and Management. JAAOS – J Am Acad Orthop Surg. 2013;21(2):78. doi:10.5435/JAAOS-21-02-78
3. A National Survey of Parents’ Attitudes and Self-Reported Behaviors Concerning Sports Safety (2011). Safe Kids Worldwide. Accessed October 11, 2024. https://www.safekids.org/research-report/national-survey-parents-attitudes-and-self-reported-behaviors-concerning-sports
4. Mohtadi N, Grant J. Managing anterior cruciate ligament deficiency in the skeletally immature individual: a systematic review of the literature. Clin J Sport Med Off J Can Acad Sport Med. 2006;16(6):457-464. doi:10.1097/01.jsm.0000248844.39498.1f
5. Beck NA, Lawrence JTR, Nordin JD, DeFor TA, Tompkins M. ACL Tears in School-Aged Children and Adolescents Over 20 Years. Pediatrics. 2017;139(3):e20161877. doi:10.1542/peds.2016-1877
6. Dodwell ER, LaMont LE, Green DW, Pan TJ, Marx RG, Lyman S. 20 Years of Pediatric Anterior Cruciate Ligament Reconstruction in New York State. Am J Sports Med. 2014;42(3):675-680. doi:10.1177/0363546513518412
7. Bram JT, Magee LC, Mehta NN, Patel NM, Ganley TJ. Anterior Cruciate Ligament Injury Incidence in Adolescent Athletes: A Systematic Review and Meta-analysis. Am J Sports Med. 2021;49(7):1962-1972. doi:10.1177/0363546520959619
8. Samora W, Beran MC, Parikh SN. Intercondylar Roof Inclination Angle: Is It a Risk Factor for ACL Tears or Tibial Spine Fractures? J Pediatr Orthop. 2016;36(6):e71. doi:10.1097/BPO.0000000000000631
9. Read PJ, Oliver JL, De Ste Croix MBA, Myer GD, Lloyd RS. Neuromuscular Risk Factors for Knee and Ankle Ligament Injuries in Male Youth Soccer Players. Sports Med. 2016;46(8):1059-1066. doi:10.1007/s40279-016-0479-z
10. Wiggins AJ, Grandhi RK, Schneider DK, Stanfield D, Webster KE, Myer GD. Risk of Secondary Injury in Younger Athletes After Anterior Cruciate Ligament Reconstruction: A Systematic Review and Meta-analysis. Am J Sports Med. 2016;44(7):1861-1876. doi:10.1177/0363546515621554
11. Ithurburn MP, Paterno MV, Ford KR, Hewett TE, Schmitt LC. Young Athletes With Quadriceps Femoris Strength Asymmetry at Return to Sport After Anterior Cruciate Ligament Reconstruction Demonstrate Asymmetric Single-Leg Drop-Landing Mechanics. Am J Sports Med. 2015;43(11):2727-2737. doi:10.1177/0363546515602016
12. Paterno MV, Kiefer AW, Bonnette S, et al. Prospectively identified deficits in sagittal plane hip-ankle coordination in female athletes who sustain a second anterior cruciate ligament injury after anterior cruciate ligament reconstruction and return to sport. Clin Biomech Bristol Avon. 2015;30(10):1094-1101. doi:10.1016/j.clinbiomech.2015.08.019
13. Sugimoto D, Myer GD, Barber Foss KD, Pepin MJ, Micheli LJ, Hewett TE. Critical components of neuromuscular training to reduce ACL injury risk in female athletes: meta-regression analysis. Br J Sports Med. 2016;50(20):1259-1266. doi:10.1136/bjsports-2015-095596
14. Myer GD, Sugimoto D, Thomas S, Hewett TE. The Influence of Age on the M Effectiveness of Neuromuscular Training to Reduce Anterior Cruciate Ligament Injury in Female Athletes. Am J Sports Med. 2013;41(1):203-215. doi:10.1177/0363546512460637
15. Hewett TE, Myer GD. The Mechanistic Connection Between the Trunk, Knee, and Anterior Cruciate Ligament Injury. Exerc Sport Sci Rev. 2011;39(4):161-166. doi:10.1097/JES.0b013e3182297439
16. Sugimoto D, Myer GD, Bush HM, Klugman MF, McKeon JMM, Hewett TE. Compliance With Neuromuscular Training and Anterior Cruciate Ligament Injury Risk Reduction in Female Athletes: A Meta-Analysis. J Athl Train. 2012;47(6):714-723.
17. Sugimoto D, Myer GD, Foss KDB, Hewett TE. Dosage effects of neuromuscular training intervention to reduce anterior cruciate ligament injuries in female athletes: meta- and sub-group analyses. Sports Med Auckl NZ. 2014;44(4):551-562. doi:10.1007/s40279-013-0135-9
18. Sugimoto D, Myer GD, Foss KDB, Hewett TE. Specific exercise effects of preventive neuromuscular training intervention on anterior cruciate ligament injury risk reduction in young females: meta-analysis and subgroup analysis. Br J Sports Med. 2015;49(5):282-289. doi:10.1136/bjsports-2014-093461
19. Sugimoto D, Myer GD, Micheli LJ, Hewett TE. ABCs of Evidence-based Anterior Cruciate Ligament Injury Prevention Strategies in Female Athletes. Curr Phys Med Rehabil Rep. 2015;3(1):43-49. doi:10.1007/s40141-014-0076-8
20. Mall NA, Paletta GA. Pediatric ACL injuries: evaluation and management. Curr Rev Musculoskelet Med. 2013;6(2):132-140. doi:10.1007/s12178-013-9169-8
21. Fabricant PD, Jones KJ, Delos D, et al. Reconstruction of the anterior cruciate ligament in the skeletally immature athlete: a review of current concepts: AAOS exhibit selection. J Bone Joint Surg Am. 2013;95(5):e28. doi:10.2106/JBJS.L.00772
22. Lee K, Siegel MJ, Lau DM, Hildebolt CF, Matava MJ. Anterior Cruciate Ligament Tears: MR Imaging-based Diagnosis in a Pediatric Population. Radiology. 1999;213(3):697-704. doi:10.1148/radiology.213.3.r99dc26697
23. Prokop-Piotrkowska M, Marszałek-Dziuba K, Moszczyńska E, Szalecki M, Jurkiewicz E. Traditional and New Methods of Bone Age Assessment-An Overview. J Clin Res Pediatr Endocrinol. 2021;13(3):251-262. doi:10.4274/jcrpe.galenos.2020.2020.0091
24. Pruneski JA, Heyworth BE, Kocher MS, et al. Prevalence and Predictors of Concomitant Meniscal and Ligamentous Injuries Associated With ACL Surgery: An Analysis of 20 Years of ACL Reconstruction at a Tertiary Care Children’s Hospital. Am J Sports Med. 2024;52(1):77-86. doi:10.1177/03635465231205556
25. Perkins CA, Christino MA, Busch MT, et al. Rates of Concomitant Meniscal Tears in Pediatric Patients With Anterior Cruciate Ligament Injuries Increase With Age and Body Mass Index. Orthop J Sports Med. 2021;9(3):2325967120986565. doi:10.1177/2325967120986565
26. Vavken P, Tepolt FA, Kocher MS. Concurrent Meniscal and Chondral Injuries in Pediatric and Adolescent Patients Undergoing ACL Reconstruction. J Pediatr Orthop. 2018;38(2):105-109. doi:10.1097/BPO.0000000000000777
27. Kannus P, Järvinen M. Knee ligament injuries in adolescents. Eight year follow-up of conservative management. J Bone Joint Surg Br. 1988;70(5):772-776. doi:10.1302/0301-620X.70B5.3192578
28. Anderson AF, Anderson CN. Correlation of meniscal and articular cartilage injuries in children and adolescents with timing of anterior cruciate ligament reconstruction. Am J Sports Med. 2015;43(2):275-281. doi:10.1177/0363546514559912
29. Moksnes H, Engebretsen L, Eitzen I, Risberg MA. Functional outcomes following a non-operative treatment algorithm for anterior cruciate ligament injuries in skeletally immature children 12 years and younger. A prospective cohort with 2 years follow-up. Br J Sports Med. 2013;47(8):488-494. doi:10.1136/bjsports-2012-092066
30. Duthon VB, Magnussen RA, Servien E, Neyret P. ACL reconstruction and extra-articular tenodesis. Clin Sports Med. 2013;32(1):141-153. doi:10.1016/j.csm.2012.08.013
31. Robson AWM. VI. Ruptured Crucial Ligaments and their Repair by Operation. Ann Surg. 1903;37(5):716-718.
32. Bigoni M, Gaddi D, Gorla M, et al. Arthroscopic anterior cruciate ligament repair for proximal anterior cruciate ligament tears in skeletally immature patients: Surgical technique and preliminary results. The Knee. 2017;24(1):40-48. doi:10.1016/j.knee.2016.09.017
33. Busam ML, Provencher MT, Bach BR. Complications of anterior cruciate ligament reconstruction with bone-patellar tendon-bone constructs: care and prevention. Am J Sports Med. 2008;36(2):379-394. doi:10.1177/0363546507313498
34. Murray MM, Kalish LA, Fleming BC, et al. Bridge-Enhanced Anterior Cruciate Ligament Repair: Two-Year Results of a First-in-Human Study. Orthop J Sports Med. 2019;7(3):2325967118824356. doi:10.1177/2325967118824356
35. Tang C, Kwaees TA, Accadbled F, Turati M, Green DW, Nicolaou N. Surgical techniques in the management of pediatric anterior cruciate ligament tears: Current concepts. J Child Orthop. 2023;17(1):12. doi:10.1177/18632521221149059
36. Fleming BC, Baranker B, Badger GJ, et al. Bridge-Enhanced Anterior Cruciate Ligament Restoration: 6-Year Results From the First-in-Human Cohort Study. Orthop J Sports Med. 2024;12(8):23259671241260632. doi:10.1177/23259671241260632
37. Kocher MS, Garg S, Micheli LJ. Physeal sparing reconstruction of the anterior cruciate ligament in skeletally immature prepubescent children and adolescents. J Bone Joint Surg Am. 2005;87(11):2371-2379. doi:10.2106/JBJS.D.02802
38. Claes S, Vereecke E, Maes M, Victor J, Verdonk P, Bellemans J. Anatomy of the anterolateral ligament of the knee. J Anat. 2013;223(4):321-328. doi:10.1111/joa.12087
39. Parsons EM, Gee AO, Spiekerman C, Cavanagh PR. The biomechanical function of the anterolateral ligament of the knee. Am J Sports Med. 2015;43(3):669-674. doi:10.1177/0363546514562751
40. Vincent JP, Magnussen RA, Gezmez F, et al. The anterolateral ligament of the human knee: an anatomic and histologic study. Knee Surg Sports Traumatol Arthrosc Off J ESSKA. 2012;20(1):147-152. doi:10.1007/s00167-011-1580-3
41. Willimon SC, Jones CR, Herzog MM, May KH, Leake MJ, Busch MT. Micheli Anterior Cruciate Ligament Reconstruction in Skeletally Immature Youths: A Retrospective Case Series With a Mean 3-Year Follow-up. Am J Sports Med. 2015;43(12):2974-2981. doi:10.1177/0363546515608477
42. Kocher MS, Heyworth BE, Fabricant PD, Tepolt FA, Micheli LJ. Outcomes of Physeal-Sparing ACL Reconstruction with Iliotibial Band Autograft in Skeletally Immature Prepubescent Children. J Bone Joint Surg Am. 2018;100(13):1087-1094. doi:10.2106/JBJS.17.01327
43. Anderson AF. Transepiphyseal replacement of the anterior cruciate ligament using quadruple hamstring grafts in skeletally immature patients. J Bone Joint Surg Am. 2004;86-A Suppl 1(Pt 2):201-209. doi:10.2106/00004623-200409001-00010
44. McCarthy MM, Graziano J, Green DW, Cordasco FA. All-epiphyseal, all-inside anterior cruciate ligament reconstruction technique for skeletally immature patients. Arthrosc Tech. 2012;1(2):e231-239. doi:10.1016/j.eats.2012.08.005
45. Lawrence JTR, Bowers AL, Belding J, Cody SR, Ganley TJ. All-epiphyseal anterior cruciate ligament reconstruction in skeletally immature patients. Clin Orthop. 2010;468(7):1971-1977. doi:10.1007/s11999-010-1255-2
46. Cruz AI, Fabricant PD, McGraw M, Rozell JC, Ganley TJ, Wells L. All-Epiphyseal ACL Reconstruction in Children: Review of Safety and Early Complications. J Pediatr Orthop. 2017;37(3):204-209. doi:10.1097/BPO.0000000000000606
47. Nawabi DH, Jones KJ, Lurie B, Potter HG, Green DW, Cordasco FA. All-Inside, Physeal-Sparing Anterior Cruciate Ligament Reconstruction Does Not Significantly Compromise the Physis in Skeletally Immature Athletes: A Postoperative Physeal Magnetic Resonance Imaging Analysis. Am J Sports Med. 2014;42(12):2933-2940. doi:10.1177/0363546514552994
48. Ford LT, Key JA. A study of experimental trauma to the distal femoral epiphysis in rabbits. J Bone Joint Surg Am. 1956;38-A(1):84-92.
49. Calvo R, Figueroa D, Gili F, et al. Transphyseal anterior cruciate ligament reconstruction in patients with open physes: 10-year follow-up study. Am J Sports Med. 2015;43(2):289-294. doi:10.1177/0363546514557939
50. Kohl S, Stutz C, Decker S, et al. Mid-term results of transphyseal anterior cruciate ligament reconstruction in children and adolescents. The Knee. 2014;21(1):80-85. doi:10.1016/j.knee.2013.07.004
51. Houle JB, Letts M, Yang J. Effects of a tensioned tendon graft in a bone tunnel across the rabbit physis. Clin Orthop. 2001;(391):275-281. doi:10.1097/00003086-200110000-00032
52. Cruz AI, Lakomkin N, Fabricant PD, Lawrence JTR. Transphyseal ACL Reconstruction in Skeletally Immature Patients. Orthop J Sports Med. 2016;4(6):2325967116650432. doi:10.1177/2325967116650432
53. Petersen W, Bierke S, Stöhr A, Stoffels T, Häner M. A systematic review of transphyseal ACL reconstruction in children and adolescents: comparing the transtibial and independent femoral tunnel drilling techniques. J Exp Orthop. 2023;10(1):7. doi:10.1186/s40634-023-00577-0
54. Kocher MS, Smith JT, Zoric BJ, Lee B, Micheli LJ. Transphyseal anterior cruciate ligament reconstruction in skeletally immature pubescent adolescents. J Bone Joint Surg Am. 2007;89(12):2632-2639. doi:10.2106/JBJS.F.01560
55. Guzzanti V, Falciglia F, Stanitski CL. Physeal-Sparing Intraarticular Anterior Cruciate Ligament Reconstruction in Preadolescents. Am J Sports Med. 2003;31(6):949-953. doi:10.1177/03635465030310063401
56. Todd DC, Ghasem AD, Xerogeanes JW. Height, weight, and age predict quadriceps tendon length and thickness in skeletally immature patients. Am J Sports Med. 2015;43(4):945-952. doi:10.1177/0363546515570620
57. Cordasco FA, Hidalgo Perea S, Uppstrom TJ, et al. Quadriceps Tendon Anterior Cruciate Ligament Reconstruction in Skeletally Immature Patients: 3-Year Clinical and Patient-Reported Outcomes. Am J Sports Med. 2024;52(9):2230-2236. doi:10.1177/03635465241255641
58. Engelman GH, Carry PM, Hitt KG, Polousky JD, Vidal AF. Comparison of Allograft Versus Autograft Anterior Cruciate Ligament Reconstruction Graft Survival in an Active Adolescent Cohort. Am J Sports Med. 2014;42(10):2311-2318. doi:10.1177/0363546514541935
59. Kaeding CC, Aros B, Pedroza A, et al. Allograft Versus Autograft Anterior Cruciate Ligament Reconstruction: Predictors of Failure From a MOON Prospective Longitudinal Cohort. Sports Health. 2011;3(1):73-81. doi:10.1177/1941738110386185
60. Lohmander LS, Ostenberg A, Englund M, Roos H. High prevalence of knee osteoarthritis, pain, and functional limitations in female soccer players twelve years after anterior cruciate ligament injury. Arthritis Rheum. 2004;50(10):3145-3152. doi:10.1002/art.20589
61. Greenberg EM, Greenberg ET, Ganley TJ, Lawrence JTR. Strength and functional performance recovery after anterior cruciate ligament reconstruction in preadolescent athletes. Sports Health. 2014;6(4):309-312. doi:10.1177/1941738114537594
62. Mercurio AM, Scott EJ, Sugimoto D, et al. Assessing the Impact of Psychological Readiness on Performance and Symmetry in Functional Testing After ACL Reconstruction in Pediatric and Adolescent Patients. Orthop J Sports Med. 2024;12(9):23259671241274768. doi:10.1177/23259671241274768
63. Ardern CL, Ekås G, Grindem H, et al. 2018 International Olympic Committee consensus statement on prevention, diagnosis and management of paediatric anterior cruciate ligament (ACL) injuries. Knee Surg Sports Traumatol Arthrosc. 2018;26(4):989-1010. doi:10.1007/s00167-018-4865-y
64. Lorange JP, Senécal L, Moisan P, Nault ML. Return to Sport After Pediatric Anterior Cruciate Ligament Reconstruction: A Systematic Review of the Criteria. Am J Sports Med. 2024;52(6):1641-1651. doi:10.1177/03635465231187039
65. Cooper S, Adsit LR, Schmitz M, et al. Factors Associated with Stiffness Following Pediatric and Adolescent ACL Reconstruction: Early Results from Score: A Multi-Center Quality Improvement Registry. Orthop J Sports Med. 2022;10(5 suppl2):2325967121S00387. doi:10.1177/2325967121S00387
66. Bu N, Ed M, A N, et al. Arthrofibrosis after anterior cruciate ligament reconstruction in children and adolescents. J Pediatr Orthop. 2011;31(8). doi:10.1097/BPO.0b013e31822e0291
67. Murphy J, LaVigne C, Rush A, Pendleton A. Risk Factors for the Development of Arthrofibrosis After Anterior Cruciate Ligament Reconstruction in Children and Adolescents. Orthopedics. 2024;47(4):e161-e166. doi:10.3928/01477447-20240520-04
68. Wang B, Zhong JL, Xu XH, Shang J, Lin N, Lu HD. Incidence and risk factors of joint stiffness after Anterior Cruciate Ligament reconstruction. J Orthop Surg. 2020;15:175. doi:10.1186/s13018-020-01694-7
69. Kaeding CC, Pedroza AD, Reinke EK, Huston LJ, MOON Consortium, Spindler KP. Risk Factors and Predictors of Subsequent ACL Injury in Either Knee After ACL Reconstruction: Prospective Analysis of 2488 Primary ACL Reconstructions From the MOON Cohort. Am J Sports Med. 2015;43(7):1583-1590. doi:10.1177/0363546515578836
70. Nester JR, Torino D, Sylvestre D, et al. Risk of reoperation after primary anterior cruciate ligament reconstruction in children and adolescents. J Orthop Surg. 2022;30(2):10225536221122340. doi:10.1177/10225536221122340
71. Cordasco FA, Black SR, Price M, et al. Return to Sport and Reoperation Rates in Patients Under the Age of 20 After Primary Anterior Cruciate Ligament Reconstruction: Risk Profile Comparing 3 Patient Groups Predicated Upon Skeletal Age. Am J Sports Med. 2019;47(3):628-639. doi:10.1177/0363546518819217
72. Yabroudi MA, Björnsson H, Lynch AD, et al. Predictors of Revision Surgery After Primary Anterior Cruciate Ligament Reconstruction. Orthop J Sports Med. 2016;4(9):2325967116666039. doi:10.1177/2325967116666039
73. Accadbled F, Gracia G, Laumonerie P, Thevenin-Lemoine C, Heyworth BE, Kocher MS. Paediatric anterior cruciate ligament tears: management and growth disturbances. A survey of EPOS and POSNA membership. J Child Orthop. 2019;13(5):522-528. doi:10.1302/1863-2548.13.190074
74. Patil V, Rajan P, Hayter E, Bartlett J, Symons S. Growth Disturbances Following Paediatric Anterior Cruciate Ligament Reconstruction: A Systematic Review. Cureus. 15(6):e40455. doi:10.7759/cureus.40455


How to Cite this Article:  Weiss DL, Carr A, Berardino K, Quindlen K, Bruns RT. Paediatric Anterior Cruciate Ligament Tears: Epidemiology, Evaluation, and Evolving Treatment Strategies. International Journal of Paediatric Orthopaedics . May-August 2025; 11(2): 02-10.

(Article Text HTML)      (Full Text PDF)


Editorial

Volume 11 | Issue 1 | January-April 2025 | Page: 01 | Jayanth S. Sampath

DOI- https://doi.org/10.13107/ijpo.2025.v11.i01.210


Authors: Jayanth S. Sampath FRCSEd (Tr & Orth) [1]

[1] Department of Orthopaedics, Rainbow Children’s Hospital, Bangalore, Karnataka, India.

Address of Correspondence

Dr. Jayanth S. Sampath,
Rainbow Children’s Hospital, Bangalore, Karnataka, India.
E-mail: editor.posi.ijpo@gmail.com


Editorial

The management of skeletal dysplasias in children has transformed in recent years thanks to widespread availability of genetic studies in the developing world and a better understanding of the orthopaedic aspects of these complex multi-system problems. It has become a common experience for orthopaedic surgeons to be presented with a genetic report that lists an obscure skeletal dysplasia. This issue of IJPO is aimed to improve the awareness among orthopaedic surgeons of the common skeletal dysplasias, their typical clinical and radiological features, and management.
We present an overview of the principles and practice of orthopaedic surgery in skeletal dysplasias. The issue kicks off with an introduction by Dr Sukalyan Dey and colleagues regarding the definition and classification of skeletal dysplasias. Dr Sangeet Gangadharan follows with a comprehensive outline of the radiological diagnosis and the need for specialised investigations. Dr Arjun Dhawale and co-workers have provided a broad perspective to the assessment and treatment of spinal disorders. The role of growth modulation in deformities around the knee has been covered in detail with case examples by Dr Akash Kumar Ghosh. Our associate editor, Dr Gaurav Garg has pitched in with an excellent overview of hip problems in skeletal dysplasias. Dr Binu Kurian has detailed the management of limb deformities, an article co-authored by Dr James Fernandes from Sheffield Children’s Hospital, a world authority on the subject.
We are proud that the authors are from institutions across the world, each offering a unique perspective to the management of these difficult problems. Please share the articles with your trainees and fellows. IJPO issues are easily downloadable free of charge and in full-text format from our website www.ijpoonline.com
We invite your suggestions and comments for any improvements to the journal. Kindly write to us editor.ijpo@gmail.com or editor@posi.org.in
It is my pleasure to acknowledge the contributions of authors, reviewers, editors, and the backend team who have been instrumental in bringing out this issue. We acknowledge Dr Easwar T Ramani, POSI Webmaster for the cover page artwork which adds interest to the contents of this issue.


Sincerely


Dr Jayanth S Sampath
Editor,
International Journal of Paediatric Orthopaedics

 

 


How to Cite this Article:  Sampat JS | Editorial | International Journal of Paediatric Orthopaedics | May-August 2025;11(1): 01. https://doi.org/10.13107/ijpo.2025.v11.i01.210

(Article Text HTML)      (Full Text PDF)


Management of Deformities Around the Knee in Skeletal Dysplasia and a Review of Current Literature on Guided Growth in Skeletal Dysplasia

Volume 11 | Issue 1 | Januar-April 2025 | Page: 25-33 | Akash Kumar Ghosh, Puneeth K Pai, Vikas Ellur

DOI- https://doi.org/10.13107/ijpo.2025.v11.i01.218

Open Access License: CC BY-NC 4.0

Copyright Statement: Copyright © 2024; The Author(s).

Submitted: 14/02/2025; Reviewed: 26/02/2025; Accepted: 02/04/2025; Published: 10/04/2025


Authors: Akash Kumar Ghosh M.Ch (Paed. Ortho.) [1], Puneeth K Pai MS Ortho [1], Vikas Ellur MS Ortho [1]

[1] Department of Orthopaedics, Paediatric Orthopaedics Unit, Narayana Healthcity, Bengaluru, Karnataka, India.

Address of Correspondence

Dr. Akash Kumar Ghosh,
Department of Orthopaedics, Paediatric Orthopaedics Unit, Narayana Healthcity, Bengaluru, Karnataka, India.
E-mail: akashgh994@gmail.com


Abstract

Skeletal dysplasias are a heterogeneous group of disorders characterized by abnormal bone and cartilage formation, often presenting with complex lower limb deformities, particularly around the knee. This review provides a comprehensive overview of the current evidence regarding the management of knee deformities in skeletal dysplasias.
Deformities may arise due to asymmetric physeal. involvement, unequal growth of paired bones, or soft tissue contractures. A thorough history, comprehensive examination, and appropriate imaging are, essential for accurate assessment. Instrumented gait analysis provides valuable insights into the dynamic impact of deformities.
Treatment planning should consider the multifocal and multiplanar nature of deformities, unpredictable growth patterns, bone quality, and anesthetic risks. Guided growth is a safe and effective option for correcting coronal and sagittal plane deformities in children with at least two years of growth remaining. Acute correction using osteotomies and internal fixation is preferred when the center of rotation of angulation (CORA) is further from the physis. Gradual correction using external fixators is useful for multiplanar and multifocal deformities with limb length discrepancy. A multidisciplinary collaboration and astute planning are important for ensuring optimal outcomes in the management of knee deformities in skeletal dysplasias.
Keywords: Bone disease, Developmental, Osteotomy, Growth plate, Epiphysis, Guided growth 


References

1. Brown RR, Monsell F. Understanding the skeletal dysplasias. Current Orthopaedics. 2003;17:44–55.
2. Thacker MM, Ditro C, Mackenzie WGS, Mackenzie WG. Limb Lengthening and Deformity Correction in Patients with Skeletal Dysplasias. In: Sabharwal S, Iobst CA, editors. Pediatric Lower Limb Deformities: Principles and Techniques of Management [Internet]. Cham: Springer International Publishing; 2024 [cited 2025 Apr 6]. p. 537–59. Available from: https://doi.org/10.1007/978-3-031-55767-5_26
3. Borgo A, Cossio A, Gallone D, Vittoria F, Carbone M. Orthopaedic challenges for mucopolysaccharidoses. Ital J Pediatr. 2018;44:123.
4. Weiner DS, Tank JC, Jonah D, Morscher MA, Krahe A, Kopits S, et al. An operative approach to address severe genu valgum deformity in the Ellis-van Creveld syndrome. Journal of Children’s Orthopaedics. 2014;8:61–9.
5. Lee ST, Song HR, Mahajan R, Makwana V, Suh SW, Lee SH. Development of genu varum in achondroplasia: RELATION TO FIBULAR OVERGROWTH. The Journal of Bone & Joint Surgery British Volume. 2007;89-B:57–61.
6. Al Kaissi A, Kenis V, Melchenko E, Chehida FB, Ganger R, Klaushofer K, et al. Corrections of Lower Limb Deformities in Patients with Diastrophic Dysplasia. Orthopaedic Surgery. 2014;6:274–9.
7. Cho T-J, Choi IH, Chung CY, Yoo WJ, Park MS, Lee DY. Hemiepiphyseal Stapling for Angular Deformity Correction Around the Knee Joint in Children With Multiple Epiphyseal Dysplasia. Journal of Pediatric Orthopaedics. 2009;29:52.
8. Lachman RS. Neurologic abnormalities in the skeletal dysplasias: A clinical and radiological perspective. American Journal of Medical Genetics. 1997;69:33–43.
9. Horn J, Leardini A, Benedetti MG, Hestnes TM, Mindler G, Wekre LL, et al. Fully instrumented gait analysis in rare bone diseases – A scoping review of the literature. Gait & Posture. 2025;118:168–77.
10. Rego FRQ, Oliveira HFV de, Rolim Filho EL. Three-dimensional Evaluation of Gait: Kinetics, Kinematics, and Electromyographic in Patients with Mucopolysacharidosis Types IV and VI. Rev bras ortop. 2025;59:737–44.
11. Bayhan IA, Er MS, Nishnianidze T, Ditro C, Rogers KJ, Miller F, et al. Gait Pattern and Lower Extremity Alignment in Children With Diastrophic Dysplasia. Journal of Pediatric Orthopaedics. 2016;36:709.
12. Garman CR, Graf A, Krzak J, Caudill A, Smith P, Harris G. Gait Deviations in Children With Osteogenesis Imperfecta Type I. Journal of Pediatric Orthopaedics. 2019;39:e641.
13. Silva MS, Fernandes ARC, Cardoso FN, Longo CH, Aihara AY. Radiography, CT, and MRI of Hip and Lower Limb Disorders in Children and Adolescents. RadioGraphics. 2019;39:779–94.
14. Kraus M, Pertman L, Eshed I. What’s new in pediatric musculoskeletal imaging. Journal of Children’s Orthopaedics. 2025;19:109–18.
15. Meyrignac O, Moreno R, Baunin C, Vial J, Accadbled F, Sommet A, et al. Low-dose biplanar radiography can be used in children and adolescents to accurately assess femoral and tibial torsion and greatly reduce irradiation. Eur Radiol. 2015;25:1752–60.
16. Silva FD, Chemin RN, Ormond Filho AG, Guimarães JB, Zorzenoni FO, Nico MAC. The role of stereoradiography in the evaluation of lower limb deformities. Radiol Bras. 2022;55:104–12.
17. Alman B. Skeletal dysplasias and the growth plate. Clinical Genetics. 2008;73:24–30.
18. Kitoh H, Kamiya Y, Mishima K, Matsushita M, Kaneko H, Kitamura A, et al. Guided growth for coronal lower limb deformities in skeletal dysplasia. Journal of Pediatric Orthopaedics B. 2023;32:157.
19. Halloum A, Kold S, Rölfing JD, Abood AA, Rahbek O. Correction of rotational deformities in long bones using guided growth: a scoping review. 2024 [cited 2025 Apr 1]; Available from: https://eor.bioscientifica.com/view/journals/eor/9/2/EOR-23-0149.xml
20. Ulusaloglu AC, Asma A, Rogers KJ, Thacker MM, Mackenzie WGS, Mackenzie WG. Risk Factors for Rebound After Correction of Genu Valgum in Skeletal Dysplasia Patients Treated by Tension Band Plates. Journal of Pediatric Orthopaedics. 2022;42:190.
21. Zaidman M, Simanovsky N, Goldman V, Weisstub E. Correction of Femoral Torsional Deformities by Rotational Guided Growth. Journal of Clinical Medicine. 2024;13:7514.
22. Martel GA, Holmes L, Sobrado G, Araujo ES, Paley D, Praglia F, et al. Rotational-Guided Growth. Journal of Limb Lengthening & Reconstruction. 2018;4:97.
23. Klatt J, Stevens PM. Guided Growth for Fixed Knee Flexion Deformity. Journal of Pediatric Orthopaedics. 2008;28:626.
24. Trofimova SI, Ивановна ТС, Buklaev DS, Степанович БД, Petrova EV, Владимировна ПЕ, et al. Guided Growth for Correction of Knee Flexion Contracture in Patients with Arthrogryposis: Preliminary Results. Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. 2016;4:64–70.
25. McClure PK, Alrabai HM, Herzenberg JE. Growth modulation for fixed flexion contracture of the knee: a comparison of two techniques. Journal of Pediatric Orthopaedics B. 2021;30:37.
26. Cooper GA, Southorn T, Eastwood DM, Bache CE. Lower Extremity Deformity Management in MPS IVA, Morquio-Brailsford Syndrome: Preliminary Report of Hemiepiphysiodesis Correction of Genu Valgum. Journal of Pediatric Orthopaedics. 2016;36:376.
27. McClure PK, Kilinc E, Birch JG. Growth Modulation in Achondroplasia. Journal of Pediatric Orthopaedics. 2017;37:e384.
28. Yilmaz G, Oto M, Thabet AM, Rogers KJ, Anticevic D, Thacker MM, et al. Correction of Lower Extremity Angular Deformities in Skeletal Dysplasia With Hemiepiphysiodesis: A Preliminary Report. Journal of Pediatric Orthopaedics. 2014;34:336.
29. Sağlam Y, Demirel M, Yildirim AM, Bilgili F, Şen C. CORONAL PLANE GROWTH MODULATION FOR GENU VALGUM IN SKELETAL DYSPLASIA. Acta ortop bras. 2022;30:e249113.
30. Hösl M, Afifi FK, Thamm A, Göttling L, Holzapfel BM, Wagner F, et al. The Effectiveness of Growth Modulation Using Tension Band Plates in Children With Achondroplasia in Comparison to Children With Idiopathic Frontal Axial Deformities of the Knee. Journal of Pediatric Orthopaedics. 2025;45:e84.
31. Ulusaloglu AC, Asma A, Silva LC, Miller F, Mackenzie WG, Mackenzie WGS. Growth Modulation by Tension Band Plate in Achondroplasia With Varus Knee Deformity: Comparison of Gait Analysis Measurements. Journal of Pediatric Orthopaedics. 2023;43:168.
32. Makarewich CA, Zhang E, Stevens PM. Hemiepiphysiodesis for Lower Extremity Coronal Plane Angular Correction in the Distal Femur and Proximal Tibia in Children With Achondroplasia. Journal of Pediatric Orthopaedics. 2023;43:e639.
33. Franzone JM, Wallace MJ, Rogers KJ, Strudthoff EK, Bober MB, Kruse RW, et al. Multicenter Series of Deformity Correction Using Guided Growth in the Setting of Osteogenesis Imperfecta. Journal of Pediatric Orthopaedics. 2022;42:e656.
34. Kang S, Kim JY, Park S-S. Outcomes of Hemiepiphyseal Stapling for Genu Valgum Deformities in Patients With Multiple Hereditary Exostoses: A Comparative Study of Patients With Deformities of Idiopathic Cause. Journal of Pediatric Orthopaedics. 2017;37:265.
35. Bram JT, Li DT, Tracey OC, Lijesen E, Chipman DE, Widmann RF, et al. Hemiepiphysiodesis for Genu Valgum in Patients With Multiple Hereditary Exostoses. Journal of Pediatric Orthopaedics. 2024;44:e406.
36. Ranade AS, Oka GA, Belthur MV, Shah H, Herman MJ, Fernandes JA, et al. An International Consensus on Evaluation and Management of Idiopathic Genu Valgum: A Modified Delphi Survey. Journal of Pediatric Orthopaedics. :10.1097/BPO.0000000000002908.
37. Pacelli LL, Gillard J, McLoughlin SW, Buehler MJ. A Biomechanical Analysis of Donor-Site Ankle Instability Following Free Fibular Graft Harvest. JBJS. 2003;85:597.
38. Myers GJC, Bache CE, Bradish CF. Use of Distraction Osteogenesis Techniques in Skeletal Dysplasias. Journal of Pediatric Orthopaedics. 2003;23:41.


How to Cite this Article:  Ghosh A, Pai PK, Ellur V | Management of Deformities Around the Knee in Skeletal Dysplasia and a Review of Current Literature on Guided Growth in Skeletal Dysplasia | International Journal of Paediatric Orthopaedics | January-April 2025; 11(1): 25-33 .

(Article Text HTML)      (Full Text PDF)


Management of Paediatric Spinal Pathologies in Skeletal Dysplasia

Volume 11 | Issue 1 | Januar-April 2025 | Page: 17-24 | Arjun Dhawale, Bhushan Sagade, Atif Naseem, Abhay Nene

DOI- https://doi.org/10.13107/ijpo.2025.v11.i01.216

Open Access License: CC BY-NC 4.0

Copyright Statement: Copyright © 2025; The Author(s).

Submitted: 29/01/2025; Reviewed: 13/02/2025; Accepted: 08/03/2025; Published: 10/04/2025


Authors: Arjun Dhawale MS Ortho [1, 2], Bhushan Sagade MS Ortho [1], Atif Naseem MS Ortho [1], Abhay Nene MS Ortho [1, 2]

[1] Department of Orthopaedics, B.J. Wadia Hospital for Children, Parel, Mumbai, Maharashtra, India.
[2] Department of Orthopaedics, Sir H.N. Reliance Foundation Hospital, Girgaon, Mumbai, Maharashtra, India.

Address of Correspondence

Dr. Arjun Dhawale,
Department of Orthopaedics , B.J. Wadia Hospital For Children, Parel, Mumbai 400012, Maharashtra, India.
E-mail: arjundhawale@hotmail.com


Abstract

Treatment of spinal deformities in skeletal dysplasia is challenging. There should be a low threshold for imaging the cervical spine for instability at the craniovertebral junction. A thorough evaluation by a multidisciplinary is necessary before deciding upon any surgery. Deformity, spinal stenosis, and neurological deficit can occur. Medical optimization should be considered. Treatment should be tailored to each patient based on the symptoms, signs, the curve magnitude, and overall prognosis of survival in these patients. Implant failure, intraoperative neuromonitoring signal alerts, and junctional kyphosis are common complications . Most literature is based on expert consensus and small series, there are few long-term outcomes studies.
Keywords: Kyphosis, Scoliosis, Craniovertebral instability, Skeletal Dysplasia, Spinal Fusion, Achondroplasia, Mucopolysaccharidosis


References

1. Hall CM. International nosology and classification of constitutional disorders of bone (2001). American journal of medical genetics. 2002 Nov 15;113(1):65-77.
2. White KK, Bober MB, Cho TJ, Goldberg MJ, Hoover-Fong J, Irving M, Kamps SE, Mackenzie WG, Raggio C, Spencer SA, Bompadre V. Best practice guidelines for management of spinal disorders in skeletal dysplasia. Orphanet J Rare Dis. 2020 Dec;15:1-1.
3. Sanders JO. Spinal deformity in skeletal dysplasias. Spine Deformity. 2012 Sep;1:101-6.
4. White KK, Sucato DJ. Spinal deformity in the skeletal dysplasias. Current Opinion in Orthopaedics. 2006 Dec 1;17(6):499-510.
5. White KK, Bompadre V, Goldberg MJ, Bober MB, Cho TJ, Hoover‐Fong JE, Irving M, Mackenzie WG, Kamps SE, Raggio C, Redding GJ. Best practices in peri‐operative management of patients with skeletal dysplasias. Am J Med Genet Part A. 2017 Oct;173(10):2584-95.
6. Tetreault TA, Andras LM, Tolo VT. Spinal Manifestations of Skeletal Dysplasia: A Practical Guide for Clinical Diagnosis. J Am Acad Orthop Surg. 2022 May 13:10-5435.
7. Mackenzie WG, Dhawale AA, Demczko MM, Ditro C, Rogers KJ, Bober MB, Campbell JW, Grissom LE. Flexion-extension cervical spine MRI in children with skeletal dysplasia: is it safe and effective?. J Pediatr Ortho. 2013 Jan 1;33(1):91-8.
8. Wynne-Davies R, Hall CM, Howell CJ, Baker GW, Crossan J, Evans GA. Instability of the upper cervical spine. Arch Dis Child. 1989;64(2):283-8.
9. Cheung MS, Irving M, Cocca A, Santos R, Shaunak M, Dougherty H, Siddiqui A, Gringras P, Thompson D. Achondroplasia foramen magnum score: screening infants for stenosis. Arch Dis Child. 2021 Feb 1;106(2):180-4.
10. Remes V, Poussa M, Peltonen J. Scoliosis in patients with diastrophic dysplasia: a new classification. Spine. 2001 Aug 1;26(15):1689-97.
11. Xu L, Li Y, Sheng F, Xia C, Qiu Y, Zhu Z. The efficacy of brace treatment for thoracolumbar kyphosis in patients with achondroplasia. Spine. 2018 Aug 1;43(16):1133-8.
12. Sciubba DM, Noggle JC, Marupudi NI, Bagley CA, Bookland MJ, Carson BS, Ain MC, Jallo GI. Spinal stenosis surgery in pediatric patients with achondroplasia. J Neurosurg: Pediatrics. 2007 May 1;106(5):372-8.
13. Jeong ST, Song HR, Keny SM, Telang SS, Suh SW, Hong SJ. MRI study of the lumbar spine in achondroplasia: a morphometric analysis for the evaluation of stenosis of the canal. J Bone Joint Surg Br. 2006 Sep 1;88(9):1192-6.
14. Yap P, Savarirayan R. Emerging targeted drug therapies in skeletal dysplasias. Am J Med Genet Part A. 2016 Oct;170(10):2596-604.
15. Terai H, Nakamura H. Surgical management of spinal disorders in people with mucopolysaccharidoses. Int J Mol Sci. 2020 Feb 10;21(3):1171.
16. McGill JJ, Inwood AC, Coman DJ, Lipke ML, De Lore D, Swiedler SJ, Hopwood JJ. Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age–a sibling control study. Clin Genet. 2010 May;77(5):492-8.
17. White KK, Bompadre V, Shah SA, Redding GJ, Krengel III WF, Mackenzie WG, Children’s Spine Study Group, Growing Spine Study Group. Early-onset spinal deformity in skeletal dysplasias: a multicenter study of growth-friendly systems. Spine deformity. 2018 Jul 1;6(4):478-82.
18. Helenius IJ, Saarinen AJ, White KK, McClung A, Yazici M, Garg S, Thompson GH, Johnston CE, Pahys JM, Vitale MG, Akbarnia BA. Results of growth-friendly management of early-onset scoliosis in children with and without skeletal dysplasias: a matched comparison. Bone Joint J. 2019 Dec 1;101(12):1563-9.
19. Bekmez S, Demirkiran HG, Dede O, Ismayilov V, Yazici M. Surgical management of progressive thoracolumbar kyphosis in mucopolysaccharidosis: is a posterior-only approach safe and effective?. J Pediatr Orthop. 2018 Aug 1;38(7):354-9.
20. Ain MC, Browne JA. Spinal arthrodesis with instrumentation for thoracolumbar kyphosis in pediatric achondroplasia. Spine. 2004 Sep 15;29(18):2075-80.
21. Ain MC, Shirley ED, Pirouzmanesh A, Hariri A, Carson BS. Postlaminectomy kyphosis in the skeletally immature achondroplast. Spine. 2006 Jan 15;31(2):197-201.
22. Ain MC, Chaichana KL, Schkrohowsky JG. Retrospective study of cervical arthrodesis in patients with various types of skeletal dysplasia. Spine. 2006 Mar 15;31(6):E169-74.
23. Roberts SB, Dryden R, Tsirikos AI. Thoracolumbar kyphosis in patients with mucopolysaccharidoses: clinical outcomes and predictive radiographic factors for progression of deformity. Bone Joint J. 2016 Feb 1;98(2):229-37.
24. Abelin Genevois K, Garin C, Solla F, Guffon N, Kohler R. Surgical management of thoracolumbar kyphosis in mucopolysaccharidosis type 1 in a reference center. Journal Inherited Metab Dis. 2014 Jan;37:69-78.
25. Dalvie SS, Noordeen MH, Vellodi A. Anterior instrumented fusion for thoracolumbar kyphosis in mucopolysaccharidosis. Spine. 2001 Dec 1;26(23):E539-41.
26. Yasin MN, Sacho R, Oxborrow NJ, Wraith E, Williamson BJ, Siddique I. Thoracolumbar Kyphosis in Treated Mucopolysaccharidosis 1 (Hurler Syndrome). Spine. 2014; 39(5):318-387
27. Ilharreborde B, Helenius I, Studer D, Hasler C, Kruyt M, Mineiro J, Ovadia D, Farrington D, Pesenti S, Yazici M, EPOS Spine Study Group. What’s new in the pediatric spine?. J Child Orthop. 2025 Feb;19(1):3-13.
28. Chaudhary K, Dhawale A, Shah A, Nene A. The technique of using three-dimensional and multiplanar reformatted computed tomography for preoperative planning in pediatric craniovertebral anomalies. N Am Spine Soc J. 2021 Jul 14;7:100073.
29. Ansorge A, Sarwahi V, Bazin L, Vazquez O, De Marco G, Dayer R. Accuracy and safety of pedicle screw placement for treating adolescent idiopathic scoliosis: a narrative review comparing available techniques. Diagnostics. 2023 Jul 18;13(14):2402.


How to Cite this Article:  Dhawale A, Sagade B, Naseem A, Abhay Nene A. Management of Paediatric Spinal Pathologies in Skeletal Dysplasia. International Journal of Paediatric Orthopaedics. January-April 2025; 11(1): 17-24.

(Article Text HTML)      (Full Text PDF)


Skeletal Dysplasia: Introduction, Definition & Classification

Volume 11 | Issue 1 | Januar-April 2025 | Page: 2-5 | Sukalyan Dey, Kashif Akhtar Ahmed, Mudit Shah, Bansi Khaunte, Abhishek Kayal

DOI- https://doi.org/10.13107/ijpo.2025.v11.i01.212

Open Access License: CC BY-NC 4.0

Copyright Statement: Copyright © 2025; The Author(s).

Submitted: 27/01/2025; Reviewed: 10/02/2025; Accepted: 13/03/2025; Published: 10/04/2025


Authors: Sukalyan Dey MS Ortho [1, 2], Kashif Akhtar Ahmed MS Ortho [3], Mudit Shah MS Ortho [4], Bansi Khaunte MS Ortho [5, 6], Abhishek Kayal MS Ortho [7]

[1] Division of Pediatric Orthopaedics, CORAS Pratiksha Hospital, VIP Road , Borbari, Guwahati, 781036, Assam, India.
[2] Superkidz Pediatric Orthopaedics, Trinitas Medharbor, Paramount Square, VIP Road, Borbari, Guwahati -781036, Assam, India.
[3] Department of Orthopaedics, All India Institute of Medical Sciences, Guwahati, Assam, India.
[4] Consultant, Paediatric Orthopedic Surgeon, Mumbai, Maharashtra, India.
[5] Department of Orthopaedics, South Goa District Hospital, Goa.
[6] Paediatric Orthopaedic Surgery Department, Goa Medical College, North Goa District Hospital, Goa.
[7] Department of Orthopaedics, SRCC Children’s Hospital , Mumbai, Maharashtra, India.

Address of Correspondence

Dr. Sukalyan Dey,
Chief Consultant, Division of Pediatric Orthopaedics, CORAS Pratiksha Hospital, VIP Road , Borbari, Guwahati, 781036, Director, Superkidz Pediatric Orthopaedics, Trinitas Medharbor, Paramount Square, VIP Road, Borbari, Guwahati -781036, Assam, India.
E-mail : sukalyan.gmch@gmail.com


Abstract

Skeletal dysplasias comprise a wide-ranging and intricate category of inherited conditions that interfere with the normal formation, growth, and structural upkeep of bones and cartilage. Historically, their rarity and phenotypic heterogeneity have posed significant diagnostic and classification challenges. This article provides a comprehensive overview of the evolution of skeletal dysplasia nosology, tracing its development from Mendelian principles of inheritance to modern molecular taxonomies.
Early nosological frameworks were primarily clinico-radiological; however, the current paradigm emphasizes molecular and functional classification, reflecting the broader trend toward precision medicine. The International Skeletal Dysplasia Society (ISDS) has played a pivotal role in this shift, with its 2023 Nosology incorporating over 750 distinct disorders grouped by genetic and molecular criteria. The adoption of a dyadic taxonomy—linking gene variants with specific phenotypic descriptors—has enhanced clarity and consistency, besides facilitating better interdisciplinary communication among clinicians, radiologists, and geneticists.
While the nosological framework has considerable utility, it must strike a careful equilibrium between conventional terminology and advancing scientific knowledge. Frequently, it retains historical classifications to ensure continuity in clinical practice and maintain practitioner familiarity. The article also discusses the Bone Dysplasia Ontology as a community-driven alternative to static classifications, promoting dynamic and collaborative knowledge curation.
The purpose of nosology in skeletal dysplasia is not only academic but profoundly clinical: to assist in diagnosis, guide genetic testing, and facilitate research into novel disorders and therapies. While a perfect classification system remains elusive, the trajectory of nosological development mirrors the rapid advancements in genomic medicine and reflects a growing commitment to systematic, inclusive, and adaptive frameworks in the study of skeletal disorders
Keywords: Skeletal Dysplasia, Osteochondrodystrophy, Nosology, Bone Dysplasia Ontology


References

1. Birchler JA. Mendel, mechanism, models, marketing, and more. Cell. 2015 Sep 24;163(1):9-11.
2. Stern C. Mendel and human genetics. Proceedings of the American Philosophical Society. 1965 Aug 18;109(4):216-26.
3. Falk R. Genetic analysis: A history of genetic thinking. Cambridge University Press; 2009 May 14.
4. A Nomenclature for Constitutional (Intrinsic) Diseases of Bones. (1971). The Journal of Pediatrics, 78, 177–179.
5. Mortier GR, Cohn DH, Cormier‐Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D. Nosology and classification of genetic skeletal disorders: 2019 revision. American journal of medical genetics Part A. 2019 Dec;179(12):2393-419.
6. Unger, S., Ferreira, C. R., Mortier, G. R., et al. (2007). Skeletal dysplasias: A overview. Endocrine Development, 11, 24–32.
7. Warman, M. L., Cormier-Daire, V., Hall, C., et al. (2011). Nosology and classification of genetic skeletal disorders: 2010 revision. American Journal of Medical Genetics Part A, 155(5), 943–968.
8. Superti-Furga, A., Bonafé, L., & Rimoin, D. L. (2001). Molecular-pathogenetic classification of genetic disorders of the skeleton. American Journal of Medical Genetics, 106(4), 282–293.
9. Groza T, Hunter J, Zankl A. The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain. BMC bioinformatics. 2012 Dec;13:1-3.
10. Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD. A dyadic approach to the delineation of diagnostic entities in clinical genomics. The American Journal of Human Genetics. 2021 Jan 7;108(1):8-15.
11. Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier‐Daire V, Girisha KM, Hall C, Krakow D. Nosology of genetic skeletal disorders: 2023 revision. American Journal of Medical Genetics Part A. 2023 May;191(5):1164-209.
12. Fratzl-Zelman N, Misof BM, Roschger P, Klaushofer K. Klassifikation der Osteogenesis imperfecta. Wiener Medizinische Wochenschrift. 2015 Jul;165:264-70.
13. Greally MT. Shprintzen-Goldberg Syndrome. PMID: 20301454


How to Cite this Article:  Dey S, Ahmed KA, Shah M, Khaunte B, Kayal A. Skeletal Dysplasia: Introduction, Definition & Classification. International Journal of Paediatric Orthopaedics. January-April 2025; 11(1): 02-05 .

(Article Text HTML)      (Full Text PDF)


The Hip in Skeletal Dysplasia: Evaluation & Management

Volume 11 | Issue 1 | Januar-April 2025 | Page: 34-43 | Gaurav Gupta, Easwar T R, Hitesh Shah, Mohan V Belthur

DOI- https://doi.org/10.13107/ijpo.2025.v11.i01.220

Open Access License: CC BY-NC 4.0

Copyright Statement: Copyright © 2025; The Author(s).

Submitted: 13/01/2025; Reviewed: 08/02/2025; Accepted: 15/03/2025; Published: 10/04/2025


Authors: Gaurav Gupta MS Ortho [1], Easwar T R MS Ortho [2], Hitesh Shah MS Ortho [3], Mohan V Belthur MS Ortho, FRCS (Tr & Orth), FRCSC [4, 5]

[1] Department of Orthopaedics, Child Ortho Clinic, Delhi-NCR, India.
[2] Department of Orthopaedics, Baby Memorial Hospital, Kozhikode, Kerala, India.
[3] Department of Orthopaedics, Kasturba Medical College, Manipal, Karnataka, India.
[4] Department of Orthopaedics, Phoenix Children’s Hospital, Phoenix, Arizona, USA.
[5] Department of Child Health & Orthopaedics, University of Arizona College of Medicine – Phoenix.

Address of Correspondence

Dr Mohan Belthur,
Department of Child Health & Orthopaedics, University of Arizona College of Medicine – Phoenix.
Director, Paediatric Limb Reconstruction Services
Co-Director, Neuroorthopaedic Services
Co-Director, Bubba Watson & Ping Motion Analysis Laboratory
Department of Orthopaedics, Phoenix Children’s Hospital, Phoenix, Arizona, USA.


Abstract

Skeletal dysplasias represent a heterogeneous group of over 500 genetic disorders affecting the growth, development, and structural integrity of bone and cartilage. Hip deformities in skeletal dysplasia (S.D) represent a significant challenge in pediatric orthopaedic practice. They significantly impact mobility and quality of life in children with S.D. Despite advances in surgical techniques and implant technology, patients with skeletal dysplasia continue to face higher complication rates and more challenging management decisions.
Early identification and intervention can prevent progressive deformity and secondary complications. A multidisciplinary approach combining careful preoperative planning, specialised surgical techniques, and dedicated rehabilitation protocols offers the best opportunity to optimise outcome.
Keywords: Skeletal Dysplasia, Hip deformities, Natural History, Management, Outcomes.


References

1. Handa A, Nishimura G, Zhan MX, Bennett DL, El-Khoury GY. A primer on skeletal dysplasias. Jpn J Radiol. 2022 Mar;40(3):245-261. doi: 10.1007/s11604-021-01206-5. Epub 2021 Oct 25. PMID: 34693503; PMCID: PMC8891206.
2. Osagie L, Figgie M, Bostrom M. Custom total hip arthroplasty in skeletal dysplasia. Int Orthop. 2012 Mar;36(3):527-31. doi: 10.1007/s00264-011-1314-7. Epub 2011 Jul 13. PMID: 21751022; PMCID: PMC3291760.
3. Wyles CC, Panos JA, Houdek MT, Trousdale RT, Berry DJ, Taunton MJ. Total Hip Arthroplasty Reduces Pain and Improves Function in Patients With Spondyloepiphyseal Dysplasia: A Long-Term Outcome Study of 50 Cases. J Arthroplasty. 2019 Mar;34(3):517-521. doi: 10.1016/j.arth.2018.10.028. Epub 2018 Oct 30. PMID: 30528131; PMCID: PMC6786491.
4. Pauli RM, Modaff P, Sipes SL, Whitelock I. (2019). Tailoring care for individuals with skeletal dysplasia: A practice guide. Am J Med Genet C Semin Med Genet, 181(4):545-559.
5. Trotter TL, Hall JG. (2020). Health supervision for children with achondroplasia. Pediatrics, 145(6).
6. Kadakia RJ, Haddad FS, Appleton P, et al. (2019). Hip disease in spondyloepiphyseal dysplasia: A long-term follow-up study. J Bone Joint Surg Br, 101-B(6):732-739.
7. Anthony S, Munk R, Skakun W, Masini M. (2015). Multiple epiphyseal dysplasia: A retrospective review of clinical and radiographic features at presentation. J Pediatr Orthop, 35(2):172-179.
8. Bonafe L, Cormier-Daire V, Hall C, et al. (2015). Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet A, 167A(12):2869-2892.
9. Mathew CJ, Ho-Yan B, Clevidence BA, et al. (2014). Hip pathology in pseudoachondroplasia. J Pediatr Orthop, 34(5):519-523.
10. Mortier GR, Cohn DH, Cormier-Daire V, et al. (2019). Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A, 179(12):2393-2419.
11. Li D, Hu C, Wu Z, et al. (2017). The clinical and radiological outcomes of hip reconstruction in young patients with multiple epiphyseal dysplasia. J Orthop Surg Res, 12(1):123.
12. Wada A, Fujii T, Takamura K, et al. (2018). 3D assessment of hip deformities in skeletal dysplasia using CT imaging. J Pediatr Orthop, 38(9).
13. Zhang H, Yang R, Wang Y, et al. (2021). A comparative study of whole-exome sequencing and targeted panel sequencing in 312 patients with suspected skeletal dysplasia. Mol Genet Genomic Med, 9(1).
14. Moreno-De Luca A, Levin DE, Ortiz-Mantilla S, et al. (2018). Rehabilitation strategies in skeletal dysplasia: A systematic review. Arch Phys Med Rehabil, 99(6):1164-1176.
15. Gül D, Orsçelik A, Akpancar S. Treatment of Osteoarthritis Secondary to Developmental Dysplasia of the Hip with Prolotherapy Injection versus a Supervised Progressive Exercise Control. Med Sci Monit. 2020 Feb 11;26:e919166. doi: 10.12659/MSM.919166. PMID: 32045406; PMCID: PMC7034518.
16. Li Y, Zhou Y, Wang Z, et al. (2020). 3D printed patient-specific instrumentation techniques for complex hip deformity in skeletal dysplasia. J Orthop Surg, 15(1):93.
17. White KK, Bompadre V, Goldberg MJ, et al. (2017). Best practices in perioperative management of patients with skeletal dysplasias. Am J Med Genet A, 173(10):2584-2595.
18. Kanazawa K, Yonetani Y, Nakagawa Y, et al. (2019). Long-term outcome of hip reconstruction in skeletal dysplasia: A minimum 15-year follow-up study. J Pediatr Orthop, 39(9).
19. Laville J.M., Lakermance P., Limouzy F. Larsen’s syndrome: review of the literature and analysis of thirty-eight cases. J Pediatr Orthop. 1994;14:63–19. doi: 10.1097/01241398-199401000-00014. [DOI] [PubMed] [Google Scholar][Ref list]
20. Kishta W, Abduljabbar FH, Gdalevitch M, Rauch F, Hamdy R, Fassier F. Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations. J Pediatr Orthop. 2017 Oct/Nov;37(7):479-483. doi: 10.1097/BPO.0000000000000644. PMID: 26371943; PMCID: PMC5592982.
21. Härkönen H, Loid P, Mäkitie O (2021) SLC26A2-associated diastrophic dysplasia and rMED—clinical features in affected finnish children and review of the literature. Genes 12:714. https://doi.org/10.3390/genes12050714
22. Shapiro F. Review of specific skeletal dysplasias. Pediatric ortho paedic deformities. Academic Press; 2001. p. 733–870.
23. Thacker MM, Ditro C, Mackenzie WS, Mackenzie WG, White KK. Limb lengthening and deformity correction in patients with skeletal dysplasias. InPediatric Lower Limb Deformities: Principles and Techniques of Management 2024 Aug 24 (pp. 537-559). Cham: Springer International Publishing.
24. Bayhan IA, Abousamra O, Rogers KJ, Bober MB, Miller F, Mackenzie WG. Valgus hip osteotomy in children with spondyloepiphyseal dysplasia congenita: midterm results. Journal of Pediatric Orthopaedics. 2019 Jul 1;39(6):282-8.
25. Treble NJ, Jensen FO, Bankier A, Rogers JG, Cole WG. Development of the hip in multiple epiphyseal dysplasia. Natural history and susceptibility to premature osteoarthritis. J Bone Joint Surg Br. 1990;72(6):1061–4.
26. Vaara P, Peltonen J, Poussa M, Merikanto J, Nurminen M, Kaitila I, et al. Development of the hip in diastrophic dysplasia. J Bone Joint Surg Br. 1998;80(2):315–20.
27. Bisht RU, Van Tassel DC, Belthur MV. Spondyloepiphyseal dysplasia congenita: Use of complementary 3D reconstruction imaging for preoperative planning. Clinical imaging. 2022 Jun 1;86:94-7.


How to Cite this Article:  Gupta G, TR Easwar, Shah H, Belthur MV | The Hip in Skeletal Dysplasia: Evaluation & Management | International Journal of Paediatric Orthopaedics | January-April 2025; 11(1): 34-43.

(Article Text HTML)      (Full Text PDF)