Macrocephaly, distinct craniofacial appearance and spastic paraplegia: an autosomal recessive subtype of complicated spastic paraplegia

Abstract

In this report we describe two siblings, a 15‐year‐old female and her 8‐year‐old brother, with spastic paraparesis, macrocephaly and distinct craniofacial appearance, as an apparent autosomal recessive subtype of complicated spastic paraplegia.