Microcephaly - Capillary Malformation Syndrome: A new syndrome with severe epilepsy - the first german patient

Abstract

Microcephaly is a common finding in children with intractable epilepsy and severe developmental delay. Patients with severe microcephaly often have a reduced number of gyri, a pattern that has been designated as microcephaly with simplified gyral pattern. The association with multiple patchy capillary malformations is an uncommon finding, that leads to the identification of a recently described, probably autosomal recessive syndrome.