Achondroplasia

Case contributed by Dr Hani Salam

Presentation

Skeletal survey for a skeletal dysplasia.

Patient Data

Age: 3 years
Gender: Male
Modality: X-ray

Numerous abnormalities are noted, including:

  • stenosis of the foramen magnum with a large skull
  • metaphyseal flaring giving a trumpet bone type appearance
  • the femora and humeri are particularly shortened (rhizomelic shortening)
  • the acetabular roof is horizontal, the iliac wings have a tombstone appearance
  • horizontal sacrum
  • progressive decrease in interpedicular distance in lumbar spine
  • trident hands

Case Discussion

The features are characteristic of achondroplasia.

PlayAdd to Share

Case Information

rID: 9294
Case created: 1st Apr 2010
Last edited: 22nd Jun 2016
Inclusion in quiz mode: Included

Updating… Please wait.
Loadinganimation

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.