Achondroplasia
Presentation
Dysmorphic
Patient Data
Age: 3 months
Gender: Male
From the case:
Achondroplasia
MRI
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Sagittal T2
Foramen magnum stenosis with significant compression of the cervicomedullary junction and resultant high T2 signal in the cord.
From the case:
Achondroplasia
X-ray
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Upper limb
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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