Lissencephaly: Variant of LIS1 without Cerebellar Hypoplasia: Phenotype vs Genotype
- Magnetic resonance,
- Prenatal diagnosis,
Copyright (c) 2019 Pellegrino et al.
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Classic lissencephaly is a rare and serious brain malformation classified in type 1 and type 2. Type 1 is associated with mutations in the human LIS1 gene, which are numerous and constantly discovered. We present a case of isolated fetal ventriculomegaly with subsequent and unexpected diagnosis of neonatal lissencephaly. The clinical manifestation does not match the genotype, often associated with cerebellar hypoplasia.