Alobar holoprosencephaly

Case contributed by Mohammad-naser Jalalian
Diagnosis certain

Presentation

Newborn with decreased head circumference, cleft lip and palate and single nostril

Patient Data

Age: 1 day
Gender: Female
ct

Axial non-contrast CT demonstrates:

  • single midline monoventricle with a dorsal cyst of holoprosencephaly
  • fused cerebral hemispheres and thalami
  • absence of midline structures (septum pellucidum, corpus callosum, interhemispheric fissure, and falx cerebri)
  • associated hypotelorism

Case Discussion

This case shows features consistent with alobar holoprosencephaly with associated craniofacial anomalies.

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