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

Marc S Williams1, Kevin D Josephson

  • 1Department of Pediatrics, Gundersen Lutheran Medical Center LaCrosse, Wisconsin 54601, USA. mswillia@gundluth.org

American Journal of Medical Genetics. Part A
|August 19, 2003
PubMed

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.

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