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Table 1 General autopsy findings and brain macroscopic characteristics in the five foetuses mutated in the MPDZ gene

From: Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene

Case number and sex TOP Body weight Head circumference Brain weight External examination Coronal sections Third ventricle Aqueduct of Sylvius Infratentorial structures
Fœtus 1 female (Family 1) 30 WG 1350 g (50th p) 32 cm (>95th p) 210 g (50th p) Secondary sulci present Enlarged gyri Opened SF Biventricular dilatation Thin CC rupture of the septum Atresia with collapse of the thalami Atresia Vermis hypoplasia Diamond-shaped fourth ventricle Normal brainstem
Fœtus 2 female (Family 1) 29 WG 1688 g (>95th p) 35 cm (> > 95th p) 181 g (50th p) Secondary sulci present Enlarged gyri Opened SF Biventricular dilatation Atresia with collapse of the thalami Atresia Vermis hypoplasia Normal brainstem
Fœtus 3 male (Family 2) 25 WG 990 g (>95th p) 25 cm (>95th p) 147.5 g (50th p) Largely opened SF No other fissures Biventicular and anterior dilatation of the 3rd ventricle Posterior atresia Atresia Asymmetric pyramids and olivary nuclei
Fœtus 4 male (family 3) 29 WG 800 g (10th p) 27 cm (75th p) NA (autolysis) Secondary sulci present Enlarged gyri Opened SF Biventricular dilatation NA Atresia NA
Fœtus 5 male (Family 3) 25 WG 786 g (50th p) 24 cm (>95th p) NA Largely opened SF No other fissures Biventricular dilatation Thin CC Atresia Atresia Normal
Fœtus 6 male (Family 3) 23 WG 482 g (50th p) 21 cm (>95th p) NA No fissures Biventricular dilatation Thin CC Narrowed 3rd ventricle Atresia Normal
  1. TOP Termination of the pregnancy, WG weeks of gestation, p percentile, SF Sylvian fissure, CC corpus callosum, NA not available