A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene

Abstract

Abstract Reelinopathies cause a distinctive lissencephaly type associated with cerebellar hypoplasia. To help further management, we wanted to report here the first prenatal diagnosis due to a homozygous inherited reelinopathy.

Keywords

• cerebellar hypoplasia
• lissencephaly
• reelinopathy
• RELN