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

1. Leiva-Gea A et al. Achondroplasia: Update on diagnosis, follow-up and treatment. An Pediatr (Engl Ed). 2022 Dec;97(6)
2. 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.