Presentation
Short stature
Patient Data
Age: 3 years
Gender: Male
From the case:
Achondroplasia
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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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