Macrocephaly, distinct craniofacial appearance, and spastic paraplegia: a new case and expansion of the phenotype

Am J Med Genet A. 2003 Sep 1;121A(3):281-2. doi: 10.1002/ajmg.a.20274.

Abstract

An adult female patient is presented with macrocephaly, mental retardation, seizures, spastic paraplegia and distinctive craniofacial appearance. We believe she represents the fourth case of the Fryns macrocephaly, distinct craniofacial appearance and spastic paraplegia syndrome. Cardinal features are discussed and additional phenotypic manifestations are discussed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Craniofacial Abnormalities / genetics*
  • Craniofacial Abnormalities / pathology
  • Female
  • Head / abnormalities*
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Phenotype
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastic Paraplegia, Hereditary / pathology