Results 191 to 200 of about 38,110 (241)

Type I neurofibromatosis

Current Opinion in Ophthalmology, 2012
This review will focus on the recent clinical insights into type I neurofibromatosis (NF1), the most common geno-oculo-dermatosis. Advances in the treatment will also be reviewed.NF1 shares phenotypic features with disorders such as Legius syndrome, type 2 neurofibromatosis (NF2), and multiple lentigenes syndrome.
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Type I neurofibromatosis with pheochromocytoma

International Journal of Medical Science and Public Health, 2013
Type 1 neurofibromatosis is a common neurocutaneous syndrome with various common and uncommon associations. The present case represents an uncommon association of type 1 neurofibromatosis and pheochromocytoma, which is probably due to mutation of NF-1 gene.
Saikat Datta, Sharmistha Bhattacherjee
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Neurofibromatosis type I: Spinal neoplasia without symptoms

The Indian Journal of Pediatrics, 2004
Neurofibromatosis1 (NF-1) or von Recklinghausen disease is the most common of the neurocutaneous syndromes. It is characterized by presence of hamartomas in multiple organs. Inheritance is autosomal dominant but spontaneous mutations are seen in half the cases.
Sheffali, Gulati, Surbhi, Leekha, Arun K, Gupta, Veena, Kalra   +3 more
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Chiari I malformation and neurofibromatosis type 1

Pediatric Neurology, 2004
Single case reports exist in the medical literature of patients with tonsillar ectopia, i.e., the Chiari I malformation and neurofibromatosis type 1. However, large series of patients with either of these entities have not been examined for the presence of both defects.
Richard Shane, Tubbs, S Lane, Rutledge, Anna, Kosentka, Alfred A, Bartolucci, Walter Jerry, Oakes   +4 more
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Oral neurofibrosarcoma associated with neurofibromatosis type I

Oral Surgery, Oral Medicine, Oral Pathology, 1991
One of the most feared complications of neurofibromatosis type I (NF-I) is development of cancer, which is estimated to occur in about 5% of cases. The most common associated malignancy is the neurofibrosarcoma (NFS). HOwever, oral NFS in association with NF-I has rarely been reported. We report two cases of oral NFS arising in patients with NF-I. Both
B W, Neville, J, Hann, R, Narang, P, Garen   +3 more
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Molecular genetic diagnosis of neurofibromatosis type I

Orvosi Hetilap, 2011
Type 1 neurofibromatosis is an autosomal dominant hamartosis, caused by mutations of the gene neurofibromin-1. The variable clinical phenotype is characterized by café-au-lait spots, benign neurofibromas, axillary, inguinal hyperpigmentations, iris hamartomas, skeletal deformities and risk of neurofibroma-development.
Noémi, Polgár, Katalin, Komlósi, Kinga, Hadzsiev, Tamás, Illés, Béla, Melegh   +4 more
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Neurofibromatosis Type I: Genetics and Clinical Manifestations

Seminars in Ophthalmology, 2008
Neurofibromatosis type I is multisystem disorder with myriad manifestations, many of which involve the eye. Diagnostic findings include neurofibromas, lisch nodules, café-au-lait macules, freckling, optic pathway gliomas, and skeletal dysplasia. The responsible gene and its protein product, neurofibromin have been identified. Advances have been made in
Aaron, Savar, Dean M, Cestari
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Pediatric brain MRI in neurofibromatosis type I

European Radiology, 2004
Neurofibromatosis (NF) is the most common of the phakomatoses, with a prevalence of 1 in 3-4,000. Many organ systems can be affected. In addition to multiple peripheral neurofibromas, NF I predisposed to CNS tumors including optic glioma, astrocytoma and plexiform neurofibroma.
Hans-J, Mentzel, Jörg, Seidel, Clemens, Fitzek, Annegret, Eichhorn, Susanna, Vogt, Jürgen R, Reichenbach, Felix, Zintl, Werner A, Kaiser   +7 more
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Autism Spectrum Disorder Profile in Neurofibromatosis Type I

Journal of Autism and Developmental Disorders, 2014
Neurofibromatosis Type 1 (NF1) is a common autosomal dominant single-gene disorder, in which the co-occurrence of autism spectrum disorder (ASD) has attracted considerable research interest recently with prevalence estimates of 21-40%. However, detailed characterization of the ASD behavioral phenotype in NF1 is still lacking.
Garg, Shruti, Plasschaert, Ellen, Descheemaeker, Mie-Jef, Huson, Susan, Borghgraef, Martine, Vogels, Annick, Evans, D Gareth, Legius, Eric, Green, Jonathan   +8 more
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Neurofibromatosis type I: Case report

East African Medical Journal, 2015
We present a case of neurofibromatosis type 1 (NF-1) discussing how cutaneous manifestations of disorders or  syndromes can be difficult to identify, especially when they are present since birth, present also in a  percentage of normal population, and especially when these are isolated findings, not accompanied by other  clinical relevant signs or ...
Gaido, G, Lanza, C
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