Achondroplasia

Case contributed by Assoc Prof Frank Gaillard

Presentation

Dysmorphic.

Patient Data

Age: 2 years
Gender: Male

The skull vault is enlarged, with small skull base.
There is exacerbation of the lumbar-sacral angle and the interpedicular distance gradually diminishes in the lumbar spine. The iliac wings are vertical.
The limbs demonstrate normal density with marked shortening of the long bones. 

CT images of the base of skull demonstrate marked stenosis of the foramen magnum.

Case Discussion

Characteristic features of achondroplasia.

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