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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

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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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

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

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

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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A Case of Osteofibrous Dysplasia Treated with a Hybrid Approach: Clinical and Radiological Outcomes

Volume 10 | Issue 3 | September-December 2024 | Page: 33-38 | Vivek Madankar, K. Ramkumar Reddy, Roshan Kumar Mohanty

DOI- https://doi.org/10.13107/ijpo.2024.v10.i03.208

Open Access License: CC BY-NC 4.0

Submitted: 15/11/2024; Reviewed: 22/11/2024; Accepted: 01/12/2024; Published: 10/12/2024

Authors: Vivek Madankar MS Ortho [1], K. Ramkumar Reddy MS Ortho [1], Roshan Kumar Mohanty MS Ortho [1]

[1] Department of Orthopaedics, Kakatiya Medical College, Warangal, Telangana, India.

Address of Correspondence

Dr. Vivek Madankar,
Department of Orthopaedics, Kakatiya Medical College, Warangal, Telangana, India.
E-mail: vivekmadankar@gmail.com

Abstract

Introduction: Osteofibrous dysplasia (OFD) is a rare, benign, and self-limiting fibro-osseous lesion primarily affecting the cortical bone of the tibia and fibula in children and adolescents. OFD presents diagnostic challenges due to its clinical and radiological resemblance to adamantinoma, a malignant bone tumor. Accurate diagnosis and appropriate treatment are essential to prevent complications and recurrence.
Case Report: We report the case of an 11-year-old boy with a four-month history of pain and a longstanding swelling in his right tibia. Clinical examination revealed a firm, well-circumscribed lesion in the tibial cortex. Imaging demonstrated a mixed sclerotic and lytic lesion with characteristic features, including a multilocular “soap bubble” appearance. Histopathological evaluation confirmed the diagnosis of OFD. The patient underwent a hybrid treatment approach involving surgical excision sparing the posterior cortex, followed by functional cast bracing. This strategy facilitated early mobilization and complete recovery. Radiological evaluation at six weeks demonstrated neo-osteogenesis, with full bone healing achieved by 12 weeks. At the two-year follow-up, the patient exhibited full functional recovery with no signs of recurrence.
Conclusion: This case highlights the successful management of OFD using a hybrid surgical and non-surgical approach, emphasizing the importance of accurate diagnosis and tailored treatment strategies. Combining surgical resection with functional bracing allowed for effective management, early weight-bearing, and prevention of complications. This approach adds to the orthopedic literature by illustrating an alternative, cost-effective treatment protocol for this rare bone disorder.
Keywords: Osteofibrous dysplasia, Tibial lesion, Hybrid treatment, Surgical excision, Functional cast bracing, Pediatric orthopedics

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How to Cite this Article: Madankar V, Reddy KR, Kumar R | A Case of Osteofibrous Dysplasia Treated with a Hybrid Approach: Clinical and Radiological Outcomes | International Journal of Paediatric Orthopaedics | September-December 2024; 10(3): 33-38.

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A New Technique in the Treatment of Congenital Vertical Talus: A Case Series of Four Patients

Volume 10 | Issue 3 | September-December 2024 | Page: 25-32 | Harsharan Singh Oberoi, Baldish Singh Oberoi

DOI- https://doi.org/10.13107/ijpo.2024.v10.i03.206

Open Access License: CC BY-NC 4.0

Submitted: 21/11/2024; Reviewed: 23/11/2024; Accepted: 01/12/2024; Published: 10/12/2024

Authors: Harsharan Singh Oberoi MS, DNB Ortho [1], Baldish Singh Oberoi MS Ortho, MPH [2]

[1] Department of Orthopaedics, Oberoi Hospital, Jalandhar City, Punjab, India.

Address of Correspondence

Dr. Baldish Singh Oberoi
Consultant Orthopaedic Surgeon, Oberoi Hospital, Jalandhar City, Punjab, India.
Email: baldishoberoi@gmail.com

Abstract

Congenital Vertical talus is a rare condition present at birth that occurs in 1 in 10000 live births. We present a case series of four patients that we treated by the minimal invasive procedure followed by serial casting. Satisfactory correction, both cosmetic and functional, was achieved in all the cases. These results indicate that minimal invasive surgery followed by serial casting is a good way to correct the deformity in patients presenting early. Often, Vertical Talus patients are corrected by extensive surgical procedures and wire fixations leading to complications and resulting in a stiff and painful foot. We have devised a minimally invasive procedure without any wire fixation for patients presenting early with satisfactory results.
Keywords: Congenital Vertical talus, Foot abduction Orthosis, Talo-calcaneal angle

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How to Cite this Article: Oberoi HS, Oberoi BS | A New Technique in the Treatment of Congenital Vertical Talus: A Case Series of Four Patients | International Journal of Paediatric Orthopaedics | September-December 2024; 10(3): 25-32.

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