Neurologically abnormal with an 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 a falx cerebri. The cerebellum is malformed with abnormal appearance of the fourth ventricle. Brainstem is visualised.
In addition there are a number of other midline abnormalities:
- bony defect in the occipital bone with an occipital meningiocoele
- cleft lip and palate
- under-developed nose and hypotelorism
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This case demonstrates the typical appearances of alobar holoprosencephaly, incompatible with long term survival.
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21 public playlists includes this case
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