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Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.

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Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome. / 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; Frank, Van Calenbergh; Mautner, Viktor Felix; Legius, Eric.

In: EUR J HUM GENET, Vol. 20, No. 6, 6, 2012, p. 618-625.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Babovic-Vuksanovic, D, Messiaen, L, Nagel, C, Brems, H, Scheithauer, B, Denayer, E, Mao, R, Sciot, R, Janowski, KM, Schuhmann, MU, Claes, K, Beert, E, Garrity, JA, Spinner, RJ, Stemmer-Rachamimov, A, Gavrilova, R, Frank, VC, Mautner, VF & Legius, E 2012, 'Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.', EUR J HUM GENET, vol. 20, no. 6, 6, pp. 618-625. <http://www.ncbi.nlm.nih.gov/pubmed/22258529?dopt=Citation>

APA

Babovic-Vuksanovic, D., Messiaen, L., Nagel, C., Brems, H., Scheithauer, B., Denayer, E., Mao, R., Sciot, R., Janowski, K. M., Schuhmann, M. U., Claes, K., Beert, E., Garrity, J. A., Spinner, R. J., Stemmer-Rachamimov, A., Gavrilova, R., Frank, V. C., Mautner, V. F., & Legius, E. (2012). Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome. EUR J HUM GENET, 20(6), 618-625. [6]. http://www.ncbi.nlm.nih.gov/pubmed/22258529?dopt=Citation

Vancouver

Babovic-Vuksanovic D, Messiaen L, Nagel C, Brems H, Scheithauer B, Denayer E et al. Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome. EUR J HUM GENET. 2012;20(6):618-625. 6.

Bibtex

@article{a158553336354ab7900a6d154866daf1,
title = "Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.",
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.",
keywords = "Humans, Male, Female, Adolescent, Young Adult, Mutation, Nerve Sheath Neoplasms/*pathology, Schwann Cells/metabolism, Face/abnormalities, Marfan Syndrome/*pathology, Neurofibromatoses/*pathology, Pain/genetics/pathology, Humans, Male, Female, Adolescent, Young Adult, Mutation, Nerve Sheath Neoplasms/*pathology, Schwann Cells/metabolism, Face/abnormalities, Marfan Syndrome/*pathology, Neurofibromatoses/*pathology, Pain/genetics/pathology",
author = "D Babovic-Vuksanovic and Ludwine Messiaen and Christoph Nagel and Hilde Brems and Bernd Scheithauer and Ellen Denayer and Rong Mao and Raf Sciot and Janowski, {Karen M} and Schuhmann, {Martin U} and Kathleen Claes and Eline Beert and Garrity, {James A} and Spinner, {Robert J} and Anat Stemmer-Rachamimov and Ralitza Gavrilova and Frank, {Van Calenbergh} and Mautner, {Viktor Felix} and Eric Legius",
year = "2012",
language = "English",
volume = "20",
pages = "618--625",
journal = "EUR J HUM GENET",
issn = "1018-4813",
publisher = "NATURE PUBLISHING GROUP",
number = "6",

}

RIS

TY - JOUR

T1 - Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome.

AU - Babovic-Vuksanovic, D

AU - Messiaen, Ludwine

AU - Nagel, Christoph

AU - Brems, Hilde

AU - Scheithauer, Bernd

AU - Denayer, Ellen

AU - Mao, Rong

AU - Sciot, Raf

AU - Janowski, Karen M

AU - Schuhmann, Martin U

AU - Claes, Kathleen

AU - Beert, Eline

AU - Garrity, James A

AU - Spinner, Robert J

AU - Stemmer-Rachamimov, Anat

AU - Gavrilova, Ralitza

AU - Frank, Van Calenbergh

AU - Mautner, Viktor Felix

AU - Legius, Eric

PY - 2012

Y1 - 2012

N2 - 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.

AB - 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.

KW - Humans

KW - Male

KW - Female

KW - Adolescent

KW - Young Adult

KW - Mutation

KW - Nerve Sheath Neoplasms/pathology

KW - Schwann Cells/metabolism

KW - Face/abnormalities

KW - Marfan Syndrome/pathology

KW - Neurofibromatoses/pathology

KW - Pain/genetics/pathology

KW - Humans

KW - Male

KW - Female

KW - Adolescent

KW - Young Adult

KW - Mutation

KW - Nerve Sheath Neoplasms/pathology

KW - Schwann Cells/metabolism

KW - Face/abnormalities

KW - Marfan Syndrome/pathology

KW - Neurofibromatoses/pathology

KW - Pain/genetics/pathology

M3 - SCORING: Journal article

VL - 20

SP - 618

EP - 625

JO - EUR J HUM GENET

JF - EUR J HUM GENET

SN - 1018-4813

IS - 6

M1 - 6

ER -