Achondroplasia

Case contributed by A.Prof Frank Gaillard

Presentation

Dysmorphic.

Patient Data

Age: 2 years
Gender: Male
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. 

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: 1st Jun 2017
Inclusion in quiz mode: Included

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