“ This is typically diagnosed at 3-6 months of age. Expect d ysmorphic facies and enlarged ears. It is fatal by 2 years of age. CT • Hy...
“
This is typically diagnosed at 3-6 months of age.
Expect dysmorphic facies and enlarged ears.
It is fatal by 2 years of age.
CT
• Hyperdense thalami and corona radiata
MRI
• Optic nerve hypertrophy
”
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