Blog Elements - International Journal of Paediatric Orthopaedics

Half Sized Blog Element (Single Author Style)

Half Sized Blog Element (Multi Author Style)

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 […]

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], […]

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

Management of Paediatric Spinal Pathologies in Skeletal Dysplasia

Full Sized Blog Element (Big Preview Pic)

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

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

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.

Half Sized Blog Element (Single Author Style)

Half Sized Blog Element (Multi Author Style)

Full Sized Blog Element (Big Preview Pic)

Abstract

Abstract

License

Publisher