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Fig. 1 | Acta Neuropathologica Communications

Fig. 1

From: A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis

Fig. 1

Main macroscopic findings. a Left side of the brain showing lissencephaly with no gradient of severity, with a short Sylvian fissure reduced to a dimple (black arrow). b Comparison with an age-matched control brain aged 26WG, where all primary fissures are present, with a posteriorly closed Sylvian fissure (black arrow). c Macroscopic view of the mesencephalon, displaying a punctiform aqueduct of Sylvius (black arrow) beneath the cerebellum, which forms a single non-foliated mass corresponding to an RES. d On a coronal section passing through the cerebral hemispheres at the level of the hippocampi, the third ventricle is severely narrowed, the corpus callosum is present (black arrow) and the hippocampi appear hypoplastic. The circle represents the LGE. e Flow cytometry cell cycle profiles in the LGE at 26WG. Left: control fœtus, middle: ADGRL2 mutated fœtus and right: MCPH1 mutated fœtus. Arrows indicate G2/M phases

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