Achondroplasia

Case contributed by Dr Hani Makky Al Salam

Presentation

Skeletal survey for a skeletal dysplasia.

Patient Data

Age: 3 years
Gender: Male
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.

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