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Characteristic features are CMD in combination with cobblestone (Type II) lissencephaly, cerebellar malformations, and retinal malformation.
Lissencephaly is a rare congenital developmental disease that can be caused by, amongst other anomalies, a mutation of the DCX gene.
However, it demonstrated significant findings of delayed myelination of cerebral cortex, hypoplastic cerebellum, and cobblestone lissencephaly (Figures 1(a)-1(c)), all of which are well-characterized in WWS.
Pollen et al., "Human iPSC-derived cerebral organoids model cellular features of lissencephaly and reveal prolonged mitosis of outer radial glia," Cell Stem Cell, vol.
MNRR1 was further connected to neurological development when it was shown to be downregulated in iPS cells derived from patients with lissencephaly, a congenital brain malformation caused by defects in neuronal migration [60].
Lissencephaly is a malformation of the telencephalon that occurs due to neuronal migration disorder and leads to the failure of the formation of the cerebral convolutions, which results in a smooth appearance of brain surface.
Postterm Newborn with lissencephaly presented with seizure: case report and review of literature.
Sixty-nine percent showed evidence of malformations of cortical development, including lissencephaly (relative smoothness of the brain surface) associated with pachygyria (poorly formed, broad cortical folds), agyria (no cortical folds), or both (Figure 2, panel B).
For example, one could misinterpret a normal premature infant brain as lissencephaly because the post-conception age of the child is not known.
Throughout December, the youngster is dressing up in a different festive outfit every day with money being raised for Felix Forbes, from Cardiff, who suffers from lissencephaly and miller-dieker syndrome.