Title: Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome
Authors: 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 # ×
Issue Date: Jun-2012
Publisher: Karger
Series Title: European Journal of Human Genetics vol:20 issue:6 pages:618-625
Article number: 10.1038/ejhg.2011.275
Abstract: 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 facial features, and had enlarged corneal nerves as well as neuronal migration defects. Comprehensive NF1, NF2 and SMARCB1 mutation analyses revealed no mutation in blood lymphocytes and in schwann cells cultured from plexiform neurofibromas. Furthermore, no mutations in RET, PRKAR1A, PTEN and other RAS-pathway genes were found in blood leukocytes. Collectively, the clinical and pathological findings in these four cases fit no known syndrome and likely represent a new disorder.European Journal of Human Genetics advance online publication, 18 January 2012; doi:10.1038/ejhg.2011.275.
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Neurofibromatosis Research
Translational Cell & Tissue Research
Research Group Experimental Neurosurgery and Neuroanatomy
× corresponding author
# (joint) last author

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