1 results match your criteria: "Gundersen Lutheran Medical Center LaCrosse[Affiliation]"
Macrocephaly, distinct craniofacial appearance, and spastic paraplegia: a new case and expansion of the phenotype.
Am J Med Genet A
September 2003
Department of Pediatrics, Gundersen Lutheran Medical Center LaCrosse, Wisconsin 54601, USA.
Article Synopsis
- The patient is an adult female exhibiting macrocephaly (enlarged head), mental retardation, seizures, and spastic paraplegia (weakness in the legs).
- She has a unique craniofacial appearance, suggesting she may have a rare syndrome known as Fryns syndrome, of which she is believed to be the fourth identified case.
- The text highlights the main features of this syndrome and discusses other possible physical manifestations associated with it.