Achondroplasia

Achondroplasia - Head MRI

Radiological findings:

-Large cranial vault with small skull base.

-Prominent forehead with depressed nasal bridge.

-Narrowed foramen magnum.

-Cervico-medullary kink.

-Relative elevation of the brain stem give rise to a large supra-sellar cistern.

-Hydro-cephalus and surface CSF dilatation consistent with communicating hydrocephalus.

References
Kao SCS, et al. MR Imaging of the Craniovertebral Junction, Cranium and Brain in Children with Achondroplasia. AJR 153:565-569, 1989.
Achondroplasia, eMedicine June 2006