Achondroplasia

Case contributed by A.Prof Frank Gaillard

Presentation

Dysmorphic.

Patient Data

Age: 2 years
Gender: Male
Modality: X-ray

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. 

Modality: CT

There is evidence of stenosis of the foramen magnum.

Case Discussion

Characteristic features of achondroplasia.

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Case Information

rID: 5867
Case created: 25th Mar 2009
Last edited: 28th Sep 2015
Inclusion in quiz mode: Included

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