EP08.02: Cerebral imaging features of a new syndromic entity related to KIAA1109 loss‐of‐function variants.

To describe cerebral imaging features of a new syndromic entity related to KIAA1109 loss-of-function variants. All 6 cases demonstrated complex severe cerebral malformations including major cerebral parenchymal thinning with lissencephalic cortical pattern, voluminous germinal matrix, severe ventriculomegaly, corpus callosum agenesis, as well as cerebellar hypoplasia with a characteristic brainstem dysgenesis. Severe cerebral malformations including lissencephalic cortical pattern, severe parenchymal thinning, voluminous germinal matrix, severe ventriculomegaly and cerebellar and brainstem dysgenesis, associated to clubfoot or/and arthrogryposis and visceral anomalies should lead to look for KIAA1109 gene mutation. [Extracted from the article]