Investigations
The diagnosis of achondroplasia is typically made through a combination of clinical findings and X-ray appearance. (1)
Radiology of individuals with this condition show short bones, anteroposterior narrowing of the pelvis and, sometimes changes in the spine.
Specific features include:
- translucent proximal femur
- trident shaped pelvis
- small iliac wings
Note that radiological changes are present from birth.
Cervical cord lesions are observed in around 40% of people with achondroplasia and this are actually not associated with any clinical symptoms (2)
References
- Leiva-Gea A et al. Achondroplasia: Update on diagnosis, follow-up and treatment. An Pediatr (Engl Ed). 2022 Dec;97(6)
- Brouwer PA, Lubout CM, van Dijk JM, et al; Cervical high-intensity intramedullary lesions in achondroplasia: aetiology, prevalence and clinical relevance. Eur Radiol. 2012 Oct;22(10):2264-72.
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