Achondroplasia
Case contributed by:
Dr Frank Gaillard
From the case:
Achondroplasia
Modality:
X-ray
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Achondroplasia skull
From the case:
Achondroplasia
Modality:
CT
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Case Discussion:
Multiple radiographs of a 2 year old with characteristic features of achondroplasia.
The skull vault is enlarged, with small skull base and stenosis of the foramen magnum. There is exacerbation of the lumbar-sacral angle and the interpedicular distance gradually diminishes in the lumbar spine. The iliac wings are vertical (so called tombstone iliac wings).
The limbs demonstrate normal density with marked shortening of the long bones.
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