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Achondroplasia

Case contributed by Frank Gaillard
Diagnosis certain

Presentation

Dysmorphic

Patient Data

Age: 3 months
Gender: Male
  • Note: This case has been tagged as "legacy" as it no longer meets image preparation and/or other case publication guidelines.
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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