Achondroplasia

Case contributed by A.Prof Frank Gaillard
X-ray

Numerous imaging features typical of achondroplasia including shortened long bones, relatively large cranial vault with small skull base, prominent forehead with a depressed nasal bridge, tombstone iliac wings and horizontal acetabular roof, posterior vertebral body scalloping and reduced interpedicular distance in the lower lumbar spine. 

MRI

Stenosis of the foramen magnum with compression of the cervicomedullary junction. CSF flow study demonstrates only flow anterior to the cord/brainstem.

Case Discussion

This child with clinical achondroplasia has typical imaging findings. 

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Case information

rID: 7879
Published: 20th Dec 2009
Last edited: 18th Mar 2018
Inclusion in quiz mode: Included

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