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 |