Achondroplasia

Case contributed by Professor Ali Hekmatnia

Presentation

Short stature

Patient Data

Age: 3 years
Gender: Male
MRI

There is foramen magnum stenosis with cervicomedullary junction compression and resultant high T2 signal in the cord. J-shaped sella and relatively large cranial vault and small skull base and depressed nasal bridge and prominent forehead and communicating hydrocephalus with large suprasellar cistern are seen.

Case Discussion

These imaging findings are typical features of clinically proved achondroplasia.

How to use cases

You can use Radiopaedia cases in a variety of ways to help you learn and teach.

Creating your own cases is easy.

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.