Spasticity, mental retardation, macrocephaly and distinct craniofacial appearance: confirmation of a new subtype of complicated spastic paraplegia?

Genet Couns. 1998;9(3):211-3.

Abstract

Spasticity, mental retardation, macrocephaly and distinct craniofacial appearance: confirmation of a new subtype of complicated spastic paraplegia?: In this report, we describe a 30-year-old female with mental retardation, spastic paresis, epilepsy, macrocephaly and distinct craniofacial appearance. Probably, she suffers from the same condition as the two sibs described by Fryns et al., in 1994 (2).

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Craniofacial Abnormalities / pathology*
  • Female
  • Head / abnormalities*
  • Humans
  • Intellectual Disability / pathology*
  • Paraplegia / pathology*