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

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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

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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.
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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.
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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.
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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 .

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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.
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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.
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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.
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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.
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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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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.
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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

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.
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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 .

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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.

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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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Radiological Diagnosis of Skeletal Dysplasias in Children

Volume 11 | Issue 1 | Januar-April 2025 | Page: 6-16 | Sangeet Gangadharan, Samantha Low, James Fernandes, Ishandeep Singh

DOI- https://doi.org/10.13107/ijpo.2025.v11.i01.214

Open Access License: CC BY-NC 4.0

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

Submitted: Submitted: 02/01/2025; Reviewed: 29/01/2025; Accepted: 23/03/2025; Published: 10/04/2025

Authors: Sangeet Gangadharan MBBS, DNB Orth [1], Samantha Low MBBS, FRCR [2], James Fernandes MBBS, FRCS (Tr & Orth) [3], Ishandeep Singh BSc [4]

[1] Department of Paediatric Orthopaedics, Norfolk and Norwich University Hospitals NHS Foundation Trust, Norwich, UK
[2] Department of Radiology, Norfolk and Norwich University Hospitals NHS Foundation Trust, Norwich, UK
[3] Department of Trauma and Orthopaedics, Sheffield Children’s Hospital NHS Foundation Trust, Sheffield, UK
[4] Norwich Medical School, University of East Anglia, Norwich, UK

Address of Correspondence

Dr. Sangeet Gangadharan,
Department of Paediatric Orthopaedics, Norfolk and Norwich University Hospitals NHS Foundation Trust, Norwich, UK
E-mail: drsangeetgangadharan@gmail.com

Abstract

Radiological diagnosis of skeletal dysplasias in children relies on early recognition of disproportionate growth and characteristic imaging patterns across the skeleton. Skeletal dysplasias are a heterogenous group of genetic disorders of bone and cartilage with a combined birth prevalence of around 1 in 5,000 births. Early radiographic identification guides surveillance for spinal stenosis, craniovertebral anomalies, hip dysplasia and blood disorders. It also supports genetic counselling and, in some conditions, allows targeted therapies such as enzyme replacement or growth-modifying treatment. This chapter outlines key clinical clues that should alert paediatric orthopaedic surgeons to an underlying skeletal dysplasia and summarises indications and techniques for a dedicated dysplasia skeletal survey, including bone age assessment and targeted supplementary views. Furthermore, core radiological terminology and measurements used to describe disproportions and dysplastic change, are received to support systematic pattern recognition. The chapter then describes the principal clinical and radiological hallmarks of common dysplasias relevant to paediatric orthopaedic practice, including achondroplasia and hypochondroplasia, pseudoachondroplasia and multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia congenita, diastrophic dysplasia, osteogenesis imperfecta, sclerosing bone dysplasias, mucopolysaccharidoses and metaphyseal chondrodysplasias, highlighting key differential diagnoses and red flag complications. The role of advanced imaging, particularly at the craniovertebral junction, cervical spine and hips is emphasised where there is risk of cord compression, atlantoaxial instability or early degenerative change. Finally, the importance of multidisciplinary assessment, integrating clinical genetics, endocrinology, radiology, anesthesia and surgical specialties is stressed to minimise misdiagnosis and optimise long-term functional outcomes. Prenatal ultrasound and cross sectional imaging features that raise suspicion of skeletal dysplasia are summarised, underscoring opportunities for early counselling, delivery planning and postnatal evaluation.
Keywords: Skeletal Dysplasia Radiology, Achondroplasia, Hypochondroplasia, MED, Storage disorders Radiology

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How to Cite this Article:  Gangadharan S, Low S, Fernandes J, Singh I. Radiological Diagnosis of Skeletal Dysplasias in Children. International Journal of Paediatric Orthopaedics. January-April 2025; 11(1): 06-16.

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