Alobar holoprosencephaly

Case contributed by Dr Ammar Haouimi

Presentation

Increased head circumference with cleft lip and palate

Patient Data

Age: 20 months
Gender: Female
MRI

The MRI demonstrates a large dorsal monoventricle of CSF signal on all sequences with fused thalami and thin frontotemporal cerebral cortex crossing the midline anteriorly. The lateral and third ventricles are absent as well as the midline structures (septum pellucidumcorpus callosum,  interhemispheric fissure, and falx cerebri). 

Associated craniofacial anomalies include:

  • cleft lip and palate
  • hypotelorism  
  • underdeveloped nose

 

Case Discussion

MRI features of an alobar holoprosencephaly with associated craniofacial anomalies

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