Presentation
Increased head circumference with cleft lip and palate
Patient Data
Age: 20 months
Gender: Female
From the case:
Alobar holoprosencephaly
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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 pellucidum, corpus 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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