Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation

Abstract

In our series of 138 cases of CCM, prenatal and postmortem examinations identified a variety of genetic causes. However, no diagnosis could be established in 67% of cases. The classification based on the underlying neurodevelopmental defects paves the way for further genetic studies and genotype-phenotype correlations.