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. |
