American Journal of Medical Genetics, Part A 2003-Sep
Macrocephaly, distinct craniofacial appearance, and spastic paraplegia: a new case and expansion of the phenotype.
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Abstracto
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.