|
Sign In to gain access to subscriptions and/or personal tools.
|
Review Article : Neurofibromatosis 1: Clinical Manifestations and Diagnostic Criteria
J.M. Friedman, MD, PhD
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
Neurofibromatosis 1 occurs in 2 to 3 people per 10,000. The most frequent clinical features are café-au-Iait macules, neurofibromas, intertriginous freckling, Lisch nodules, and learning disabilities, but optic and other gliomas, malignant peripheral nerve sheath tumors, and characteristic osseous lesions also can be present. Two striking aspects of neurofibromatosis 1 are its progressive nature and its extreme variability. This article reviews the natural history and some important clinical manifestations of neurofibromatosis 1, with emphasis on features that constitute the standard diagnostic criteria. The pathogenic implications of these clinical manifestations are also considered. (J Child Neurol 2002;17:548-554).
Journal of Child Neurology, Vol. 17, No. 8,
548-554 (2002)
DOI: 10.1177/088307380201700802

CiteULike Complore Connotea Del.icio.us Digg Reddit Technorati Twitter What's this?
This article has been cited by other articles:

|
 |

|
 |
 
M. G. Slomiany, L. Dai, P. A. Bomar, T. J. Knackstedt, D. A. Kranc, L. Tolliver, B. L. Maria, and B. P. Toole
Abrogating Drug Resistance in Malignant Peripheral Nerve Sheath Tumors by Disrupting Hyaluronan-CD44 Interactions with Small Hyaluronan Oligosaccharides
Cancer Res.,
June 15, 2009;
69(12):
4992 - 4998.
[Abstract]
[Full Text]
[PDF]
|
 |
|

|
 |

|
 |
 
V. C. Williams, J. Lucas, M. A. Babcock, D. H. Gutmann, B. Korf, and B. L. Maria
Neurofibromatosis Type 1 Revisited
Pediatrics,
January 1, 2009;
123(1):
124 - 133.
[Abstract]
[Full Text]
[PDF]
|
 |
|

|
 |

|
 |
 
L. Margari, A. Presicci, P. Ventura, S. M. Bacca, G. Iliceto, N. Medicamento, M. Buttiglione, and T. Perniola
Clinical and Instrumental (Magnetic Resonance Imaging [MRI] and Multimodal Evoked Potentials) Follow-Up of Brain Lesions in Three Young Patients With Neurofibromatosis 1
J Child Neurol,
December 1, 2006;
21(12):
1085 - 1090.
[Abstract]
[PDF]
|
 |
|

|
 |

|
 |
 
K. P. Pummi, H. J. Aho, M. K. Laato, J. T.K. Peltonen, and S. A. Peltonen
Tight Junction Proteins and Perineurial Cells in Neurofibromas
J. Histochem. Cytochem.,
January 1, 2006;
54(1):
53 - 61.
[Abstract]
[Full Text]
[PDF]
|
 |
|

|
 |

|
 |
 
S. A. M. Thomson, L. Fishbein, and M. R. Wallace
Review Article : NF1 Mutations and Molecular Testing
J Child Neurol,
August 1, 2002;
17(8):
555 - 561.
[Abstract]
[PDF]
|
 |
|

|
 |

|
 |
 
D. Viskochil
Review Article : Genetics of Neurofibromatosis 1 and the NF1 Gene
J Child Neurol,
August 1, 2002;
17(8):
562 - 570.
[Abstract]
[PDF]
|
 |
|
|
|