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.

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Case information

rID: 62650
Published: 30th Aug 2018
Last edited: 30th Aug 2018
Inclusion in quiz mode: Included
Institution: medical university of isfahan

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