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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
The features are characteristic of achondroplasia.