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Semin Pediatr Neurol. 2007 Sep;14(3):140-9.

The phakomatoses: dermatologic clues to neurologic anomalies.

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  • 1The National Birth Defects Center, Waltham, MA 02451-1137, USA.


The phakomatoses of particular interest to neurologists including Sturge-Weber syndrome, neurofibromatosis type 1, neurofibromatosis type 2, Bannayan-Riley-Ruvalcaba syndrome, and Proteus syndrome are presented. The physical manifestations required for clinical diagnosis, the neurologic features, and recommendations for management are given. The molecular etiology and genetic aspects of these disorders are briefly discussed as well as future implications of on-going research.

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