Results 151 to 160 of about 24,057 (201)
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Orthopaedic Manifestations of Neurofibromatosis Type I
Journal of the American Academy of Orthopaedic Surgeons, 2022Neurofibromatosis type 1 (NF1) is a congenital disease which is caused by mutations in the NF1 gene on chromosome 17, resulting in an altered function of the neurofibromin protein. Owing to the ubiquitous expression of this protein, this syndrome is associated with pathology in many organ systems of the body, especially the central and peripheral ...
Timothy J. Evans +2 more
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Hemothorax in type I neurofibromatosis
The Annals of Thoracic Surgery, 1998We report a case of life-threatening hemothorax caused by rupture of a left thyrocervical trunk aneurysm and arteriovenous fistula in a patient with type I neurofibromatosis. This lesion was treated with endovascular coil embolization.
G P, Teitelbaum +2 more
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Hepatoblastoma in a child with neurofibromatosis type I
Pediatric Blood & Cancer, 2005AbstractA major hallmark of NF1 is the development of benign tumors, including peripheral neurofibromas, plexiform neurofibromas, gliomas of the optic tract, other low grade gliomas, and pheochromocytomas. Hepatoblastoma have not been previously reported in patients with neurofibromatosis type 1.
Ucar, Canan +3 more
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Intracerebral Haemorrhage in Neurofibromatosis Type I
Acta Neurochirurgica, 2001Neurofibromatosis type I patients usually present themselves with multiple neurofibromas and cafe-au-lait spots. We report a case with an intracerebral haemorrhage as an uncommon feature of the disease. The clinical, radiological, neurosurgical and histological features of this case are discussed and a review of the literature on the broad spectrum of ...
A V, Nijenhuis +3 more
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Type I neurofibromatosis with pheochromocytoma
International Journal of Medical Science and Public Health, 2013Type 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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Is there an association between neurofibromatosis type I and vitiligo?
Italian Journal of Dermatology and Venereology, 2017non ...
Miraglia, Emanuele +2 more
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Chiari I malformation and neurofibromatosis type 1
Pediatric Neurology, 2004Single 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 +4 more
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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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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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Is A Plexiform Neurofibroma Pathognomonic of Neurofibromatosis Type I?
The Laryngoscope, 2004AbstractObjectives/Hypothesis: Several prominent textbooks have claimed that a plexiform neurofibroma is pathognomonic for neurofibromatosis type I. This is not in agreement with the National Institutes of Health criteria, which require two signs to be present, one of which can be a plexiform neurofibroma.
Vincent, Lin, Sam, Daniel, Vito, Forte
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Neurofibromatosis Type I: Genetics and Clinical Manifestations
Seminars in Ophthalmology, 2008Neurofibromatosis 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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