Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy

What's already known? KIAA1109 pathogenic variants are associated with disorders of brain development ranging from major cerebral malformations to moderate cerebral atrophy. The most severe form of tubulinopathies includes microlissencephaly, voluminous germinal matrices and brainstem dysgenesis. What does this study add? The prenatal cerebral pattern of the most severe form of KIAA1109‐related disorder can be similar to the one found in tubulinopathies but was, in our short series, associated with clubfoot and/or arthrogryposis and, in some cases, with cardiac and ophthalmologic anomalies.