Tag Archive for: Achondroplasia

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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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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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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