Fig. 2
From: Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene
US coronal section passing through the diencephalon displaying absent third ventricle (white arrow) with major dilatation of the lateral ventricles and rupture of the septum in foetus 1 (a) and with on MRI considerable thinning of the corpus callosum in foetus 2 (black arrow), small vermis with enlarged cisterna magna (white arrow) (b). All foetuses presented characteristic dysmorphic features associating prominent forehead, small nose with large nasal bridge and bulbous tip, small mouth and midface hypoplasia (Foetus 4) (c) short prominent philtrum and micro-retrognathism (d.) On macroscopic section (Foetus 1), the corpus callosum was extremely thinned with undiscernible third ventricle (arrow) (e) and bilateral frontal brain parenchyma loss observed in foetus 2 due to severe intraventricular hyperpressure (arrow) (f) In the mesencephalon, the aqueduct was also undiscernible (arrow) (g) with in foetus 1 severe deformation of the fourth ventricle (h)