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Grossly abnormal craniofacial appearances, the most pronounced being turicephaly.
All of the calvarial sutures are prematurely fused.
Non ossification of multiple areas in the skull ( hence the incomplete 3D reconstructions )
Bony spiculations protruding between the cerebral sulci.
Failure of formation of supraorbital ridges with resultant gross proptosis.
Small posterior fossa with cerebellar tonsillar herniation.
Hydrocephalus with transependymal oedema.