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Achondroplasia

Case contributed by Frank Gaillard
Diagnosis certain

Presentation

History withheld.

Patient Data

Age: 35 years
Gender: Male
mri

Typical features of achondroplasia, with the distinctive appearance of the profile on sagittal T1 (frontal bossing and small nasal bone) and relative stenosis at the foramen magnum. The corpus callosum is upwardly convex and the ventricles are enlarged. The brainstem appears relatively elevated and the straight sinus has a more vertical trajectory. 

Case Discussion

This individual is known to have achondroplasia and was being assessed for headaches. 

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