Achondroplasia

Case contributed by A.Prof Frank Gaillard

Presentation

Dysmorphic

Patient Data

Age: 3 months
Gender: Male
MRI

 

Foramen magnum stenosis with significant compression of the cervicomedullary junction and resultant high T2 signal in the cord.

X-ray

Plain radiographs of the upper and lower limbs demonstrate shortened long bones. The lumbar spine has a decreasing transverse diameter. The iliac wings have a tombstone morphology. All features consistent with achondroplasia.

Case Discussion

Fairly typical imaging features of a Three-month-old child with clinically confirmed achondroplasia.

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Case information

rID: 6251
Published: 15th May 2009
Last edited: 18th Mar 2018
Inclusion in quiz mode: Included

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