Neurologically abnormal and enlarged head.
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Non-contrast CT demonstrates a thin rim of cerebral tissue anteriorly, without midline cleft. There is a large CSF density space posteriorly. There is no evidence of falx cerebri. The cerebellum is malformed with abnormal appearance of the fourth ventricle. Brainstem is visualized.
In addition there are a number of other midline abnormalities:
- bony defect in the occipital bone with an occipital meningiocele
- cleft lip and palate
- under-developed nose and hypoteloresim
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This case demonstrates the typical appearances of alobar holoprosencephaly, incompatible with long term survival.