Tag Archive for: Skeletal dysplasia

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

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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.
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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.

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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

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3. Falk R. Genetic analysis: A history of genetic thinking. Cambridge University Press; 2009 May 14.
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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.
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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.
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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.
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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 .

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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

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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.

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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

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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 .

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Management of Limb Deficiencies

Volume 10 | Issue 2 | May-August 2024 | Page: 48-54 | Sakti Prasad Das, Sankar Ganesh, Prateek Behera

DOI- https://doi.org/10.13107/ijpo.2024.v10.i02.194

Submitted: 11/03/2024; Reviewed: 08/04/2024; Accepted: 25/06/2024; Published: 10/08/2024

Authors: Sakti Prasad Das MS(Ortho.), DNB(PMR) [1], Sankar Ganesh MPT [2], Prateek Behera MS(Ortho.), DNB(Ortho.) [3]

[1] Medical Education & Training, DRIEMS University, Odisha, Tangi, Cuttack, Odisha, India.
[2] Department of Physiotherapy, Composite Regional Centre, Lucknow, Uttar Pradesh, India.
[3] Department of Orthopaedics, AIIMS Bhopal, Madhya Pradesh, India.

Address of Correspondence

Dr. Sakti Prasad Das,
Director, Medical Education & Training, DRIEMS University, Odisha, Tangi, Cuttack, Odisha, India.
E-mail: sakti2663@yahoo.com

Abstract

Limb deficiency disorders encompass a wide variety of congenital anomalies that have a significant underdevelopment or even complete absence of bones in the limbs. Treatment of these conditions must be holistic with the child at the centre. This article provides a review of the current understanding of the management of such conditions. Surgical treatment offers a practical and effective solution for treating many variants of congenital limb abnormalities. Although novel surgical treatments may expand the range of disorders that can be treated, it is crucial for both the surgeon and the family to be aware of the careful prognosis associated with the methods used. Additionally, the importance of an amputation as an option should always be kept under consideration.
Keywords: Amputation, Congenital Abnormalities, Deformity correction, Limb reconstruction, Pediatric skeletal deficiencies, Skeletal dysplasia

References

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3. WHO. International statistical classification of diseases and related health problems (ICD)-11. Geneva WHO. 2023. Available: https://www.who.int/classifications/classification-of-diseases
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17. Johnson CE, Haideri NF. Comparison of functional outcome in fibular deficiency treated by limb salvage versus Syme’s amputation. In: Herring JA, Birch JG, eds. The Child With a Limb Deficiency. Rosemont: American Academy of Orthopaedic Surgeons; 1998: 173–177.
18. Herzenberg J., Shabtai L, Standard SC. Fibular hemimelia: Principles and techniques of management. In: Sabharwal S., editor. Pediatric Lower Limb Deformities, Principles and Techniques of Management. 1st ed. Springer International Publishing; Cham, Switzerland: 2016. pp. 427–454.
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How to Cite this Article:  Das SP, Ganesh S, Behera P | Management of Limb Deficiencies | International Journal of Paediatric Orthopaedics | May-August 2024; 10(2): 48-54. https://doi.org/10.13107/ijpo.2024.v10.i02.194

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Combined Hemiepiphysiodesis Using Tension Band Plate and Osteotomy for Severe Coronal Plane Deformities Around Knee Joint in Children with Skeletal Dysplasia – An Innovative Technique

Volume 8 | Issue 2 | May-August 2022 | Page: 20-23 | Anil Agarwal, Ankit Jain, Ravi Jethwa, Jatin Raj Sareen

DOI- https://doi.org/10.13107/ijpo.2022.v08i02.139

Authors: Anil Agarwal MS Ortho [1], Ankit Jain D Ortho [1], Ravi Jethwa MS Ortho [1], Jatin Raj Sareen MS Ortho [1]

[1] Department of Paediatric Orthopaedics, Chacha Nehru Bal Chikitsalaya, Delhi, India.

Address of Correspondence

Dr. Anil Agarwal
Department of Paediatric Orthopaedics, Chacha Nehru Bal Chikitsalaya, Delhi, India.
E-mail: rachna_anila@yahoo.co.in

Abstract

Skeletal dysplasia in children is sometimes associated with severe coronal plane angulations around the knee. The associated ligament laxity adds to the complexity of surgical correction. Osteotomies require precise surgical planning and execution. Hemiepiphyseodesis is usually employed only in mild and moderate deformity. Distraction osteogenesis method is labour intensive, costly and requires a prolonged treatment course. We describe an innovative surgical technique which combines hemiepiphysiodesis using tension-band plates and a metaphyseal osteotomy. The technique utilises acute bony correction by osteotomy followed by residual correction, if any and soft tissue fine tuning through growth modulation. Growth modulation also addresses recurrence to some extent. The surgical technique is described along with illustrative case examples.
Keywords: Skeletal dysplasia, Osteotomy, Hemiepiphyseodesis

References

1. Bassett GS. Orthopaedic aspects of skeletal dysplasias. Instr Course Lect. 1990;39:381-387.
2. Rosskopf AB, Buck FM, Pfirrmann CW, Ramseier LE. Femoral and tibial torsion measurements in children and adolescents: comparison of MRI and 3D models based on low-dose biplanar radiographs. Skeletal Radiol. 2017;46:469-476.
3. Thacker MM, Davis ED, Ditro CP, Mackenzie W. Limb lengthening and deformity correction in patients with skeletal dysplasias. In: Sabharwal S (eds.). Pediatric Lower Limb Deformities. Springer, Cham; 2016. doi: 10.1007/978-3-319-17097-8_19
4. Bell DF, Boyer MI, Armstrong PF. The use of the Ilizarov technique in the correction of limb deformities associated with skeletal dysplasia. J Pediatr Orthop. 1992;12:283-290. doi: 10.1097/01241398-199205000-00003
5. Pinkowski JL, Weiner DS. Complications in proximal tibial osteotomies in children with presentation of technique. J Pediatr Orthop. 1995;15:307-312.
6. Yilmaz G, Oto M, Thabet AM, Rogers KJ, Anticevic D, Thacker MM, Mackenzie WG. Correction of lower extremity angular deformities in skeletal dysplasia with hemiepiphysiodesis: a preliminary report. J Pediatr Orthop. 2014;34:336-345. doi: 10.1097/BPO.0000000000000089
7. Cho TJ, 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. J Pediatr Orthop. 2009;29:52-56.
8. Shabtai L, Herzenberg JE. Limits of growth modulation using tension band plates in the lower extremities. J Am Acad Orthop Surg. 2016;24):691-701. doi: 10.5435/JAAOS-D-14-00234
9. Masquijo JJ, Artigas C, de Pablos J. Growth modulation with tension-band plates for the correction of paediatric lower limb angular deformity: current concepts and indications for a rational use. EFORT Open Rev. 2021;6:658-668. doi: 10.1302/2058-5241.6.200098
10. Bell DF, Boyer MI, Armstrong PF. The use of the Ilizarov technique in the correction of limb deformities associated with skeletal dysplasia. J Pediatr Orthop. 1992;12:283-290.
11. Myers GJ, Bache CE, Bradish CF. Use of distraction osteogenesis techniques in skeletal dysplasias. J Pediatr Orthop. 2003;23:41-45.

How to Cite this Article: K Agarwal A, Jain A, Jethwa R, Sareen JR |  Combined Hemiepiphysiodesis Using Tension Band Plate and Osteotomy for Severe Coronal Plane Deformities Around Knee Joint in Children with Skeletal Dysplasia – An Innovative Technique | International Journal of Paediatric Orthopaedics | May- August 2022; 8(2): 20-23.
https://doi.org/10.13107/ijpo.2022.v08i02.139

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Dysosteosclerosis – A Rare Sclerosing Bone Dysplasia

Volume 7 | Issue 3 | September-December 2021 | Page: 26-28 | Akanksha Parikh, Vikas Basa

DOI-10.13107/ijpo.2021.v07i03.119

Authors: Akanksha Parikh MD DNB Paediatrics [1], Vikas Basa DNB Ortho. [2]

[1] Department of Paediatrics, Kokilaben Dhirubhai Ambani Hospital, Mumbai, Maharashtra, India.
[2] Department of Orthopaedics, Kokilaben Dhirubhai Ambani Hospital, Mumbai, Maharashtra, India.

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Address of Correspondence
Dr Akanksha Parikh
Consultant Paediatric & Adolescent Endocrinology, Kokilaben Dhirubhai Ambani Hospital, Mumbai, Maharashtra, India.
E-mail: gandhi.akanksha@gmail.com

Abstract

Dysosteosclerosis (DOS) is a rare inherited sclerosing bone disorder caused by lack of osteoclast differentiation. A nine-month-old infant presented with a past history of pathological fracture, developmental delay and facial dysmorphisms. The sclerotic radiographic changes along with histologically observed increased bone deposition on clavicular bone biopsy led to the initial suspicion of osteopetrosis. However, a genetic analysis revealed a mutation in the SLC29A3 gene confirming the diagnosis of DOS. Due to the close clinical and radiological resemblance most infants with DOS are misdiagnosed as osteopetrosis, a related skeletal dysplasia. The presence of purplish skin rash, platyspondyly on radiographs and absence of bone marrow involvement differentiates DOS from the latter. Treatment is supportive and overall prognosis is poor with the eventual neurological deterioration and recurrent fractures.
Keywords: Skeletal dysplasia, Osteopetrosis, Platyspondyly, SLC29A3

References

1. Kobayashi K, Goto Y, Kise H, Kanai H, Kodera K, Nishimura G et al. A case report of dysosteosclerosis observed from the prenatal period. Clin Pediatr Endocrinol 2010;19:57-62.
2. Campeau PM, Lu JT, Sule G, Jiang MM, Bae Y, Madan S et al. Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis. Hum Mol Genet 2012 Nov 15;2:4904-9.
3. Noavar S, Behroozi S, Tatarcheh T, Parvini F, Foroutan M, Fahimi H. A novel homozygous frame-shift mutation in the SLC29A3 gene: A new case report and review of literature. BMC Med Gen 2019;20:147.
4. Boudin E, Van Hul W. Sclerosing bone dysplasias. Best Pract Res Clin Endocrinol Metab 2018;32:707-23.
5. Howaldt A, Nampoothiri S, Quell LM, Ozden A, Fischer-Zirnsak B, Collet C et al. Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1. Bone 2019;120:495-503.
6. Elcioglu NH, Vellodi A, Hall CM. Dysosteosclerosis: A report of three new cases and evolution of the radiological findings. J Med Genet 2002;39:603-7.

How to Cite this Article:  Parikh A, Basa V| Dysosteosclerosis – A Rare Sclerosing Bone Dysplasia | International Journal of Paediatric Orthopaedics | September- December 2021; 7(3): 26-28.

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