title: Macrocephaly, distinct craniofacial appearance, and spastic paraplegia: a new case and expansion of the phenotype.
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.
authors.affiliation: Department of Pediatrics, Gundersen Lutheran Medical Center LaCrosse, Wisconsin 54601, USA. mswillia@gundluth.org
authors.forename: Marc S
authors.initials: MS
authors.lastname: Williams
authors.forename: Kevin D
authors.initials: KD
authors.lastname: Josephson
mesh_terms: D000328:Adult; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology; D005260:Female; D006257:Head / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology