Macrocephaly,distinct craniofacial appearance,and spastic paraplegia: a new case and expansion of the phenotype |
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Authors: | Williams Marc S Josephson Kevin D |
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Affiliation: | Department of Pediatrics, Gundersen Lutheran Medical Center LaCrosse, Wisconsin 54601, USA. mswillia@gundluth.org |
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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. |
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