Article
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.
European journal of human genetics : EJHG - 1 Jun 2012
Babovic-Vuksanovic D, Messiaen Ludwine, Nagel Christoph, Brems Hilde, Scheithauer Bernd, Denayer Ellen, Mao Rong, Sciot Raf, Janowski Karen M, Schuhmann Martin U, Claes Kathleen, Beert Eline, Garrity James A, Spinner Robert J, Stemmer-Rachamimov Anat, Gavrilova Ralitza, Van Calenbergh Frank, Mautner Victor, Legius Eric
Abstract excerpt
Four unrelated patients having an unusual clinical phenotype, including multiple peripheral nerve sheath tumors, are reported. Their clinical features were not typical of any known familial tumor syndrome. The patients had multiple painful neurofibromas, including bilateral orbital plexiform neurofibromas, and spinal as well as mucosal neurofibromas. In addition, they exhibited a marfanoid habitus, shared similar...
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