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Orofaciodigital syndrome type II (coronal MR)

In this coronal MR-section from a 1-month-old female with oral-facial-digital syndrome, the red arrow indicates the site of a Probst bundle that replaces the absent corpus callosum. Overlying the third ventricle a huge interhemispheric cyst can be seen. The signal from the fluid of the cyst is higher than the CSF in the ventricles and the leptomeninges, resulting from complete compartmental separation. The cyst is located to the left of the falx and causes mass shift of both hemispheres in opposite directions. (Contributed by Dr. Peter Barth.)

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Associated Disorders

  • Aicardi syndrome
  • Callosal dysgenesis
  • Neuronal heterotopia
  • Orofaciodigital syndromes, especially types I and II
  • Polymicrogyria
  • Trisomy-18