Review of Short Phrases and Links|
This Review contains major "Neurofibromatosis"- related terms, short phrases and links grouped together in the form of Encyclopedia article.
- Neurofibromatosis is an autosomal dominant genetic disorder.
- Neurofibromatosis is a neurocutaneous syndrome, it's passed down through the parents' genes, and it affects the brain, spinal cord, nerves, and skin.
- Neurofibromatosis is a genetic disorder of the nerve tissue presenting in two forms.
- Neurofibromatosis is a genetic disorder of the nervous system.
- Neurofibromatosis is a genetic disorder that causes tumors to form on nerves throughout the body.
- Robertson (1979) reported a patient with neurofibromatosis and grotesque, massive overgrowth of one leg.
- Benatar (1994) described a 27-year-old man with neurofibromatosis who presented with 3 intracranial fusiform aneurysms.
- Some people with neurofibromatosis 2 also develop cataracts (clouding of the lens in the eye) at an early age.
- Neurofibromatosis is usually diagnosed based on a combination of findings.
- The gene causes neurofibromatosis.
- Neurofibromatosis Resources - Photographs - Photos of cafe au lait spots and external neurofibroma tumors.
- Riccardi and Eichner (1986) referred to the segmental form as neurofibromatosis type V. Combemale et al.
- Scoliosis The most common feature of Neurofibromatosis I are skin lesions called a cafe au lait spots.
- Neurofibromatosis-Noonan syndrome is characterized by the occurrence of neurofibromatosis type I in association with manifestations of Noonan syndrome.
- The patient had typical skin signs of neurofibromatosis and had had a right below-knee amputation at age 5 for nonunion of a tibial fracture.
- Four other members of their sibship of 8, and members of 2 previous generations, including the mother, had neurofibromatosis.
- They found reports of 34 similar cases and pointed out that of the 67 patients collected by Dent (1952), 2 had neurofibromatosis.
- DESCRIPTION Neurofibromatosis is an autosomal dominant disorder characterized particularly by cafe-au-lait spots and fibromatous tumors of the skin.
- Neurofibromatosis -- a disease characterized by pigmented skin spots.
- She had cafe-au-lait spots and axillary freckling typical of neurofibromatosis and marked hypertelorism characteristic of Noonan syndrome.
- A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.
- In a patient with spinal neurofibromatosis but without cafe-au-lait (L2067P) mutation in exon 33 of the NF1 gene.
- Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas.
- Neurofibromatosis (NF) has been classified into three distinct types: NF1, NF2 and Schwannomatosis.
- A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.
- Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.
- Pheochromocytoma was also present in 6 of the 27 cases with neurofibromatosis and duodenal carcinoid tumor.
- In 9 cases of neurofibromatosis with a carcinoid tumor studied by Griffiths et al.
- In particular, Sakurai (1935) published a beautifully illustrated paper linking characteristic iris nodules with von Recklinghausen neurofibromatosis.
- In addition to the types of neurofibromatosis, the phakomatoses also include tuberous sclerosis, Sturge-Weber syndrome and von Hippel-Lindau disease.
- Other disorders include neurofibromatosis 1 (NF1), von Hippel-Lindau disease (VHL), [ 23] and the hereditary paraganglioma syndromes.
- To the MGH Neurogenetics Homepage for more information on inherited tumors such as neurofibromatosis, Von Hippel Lindau disease, and tuberous sclerosis.
- Neurofibromatosis is associated with a tendency to malignant degeneration of the neurofibromas in an estimated 3 to 15% of cases.
- The more common form of this disorder, neurofibromatosis type 1, usually causes benign tumors outside the CNS.
- Although the benign tumors of neurofibromatosis are multiclonal in nature, the malignant lesion (neurofibrosarcoma) is monoclonal (Friedman et al., 1982).
- Auditory rehabilitation in neurofibromatosis type 2: a case for cochlear implantation.
- Central electrical stimulation of the auditory pathway in neurofibromatosis type 2.
- However, acoustic neuroma is often linked with the genetic disorder neurofibromatosis type 2 (NF2).
- Winter (1991) described dural ectasia in neurofibromatosis causing bony erosion that was sufficiently severe to destroy spinal stability.
- Neurofibromatosis type 2 is a disorder in which noncancerous tumors called vestibular schwannomas or acoustic neuromas develop along nerves in the inner ear.
- In Neurofibromatosis II, there are not as many physical signs of the disease.
- These growths cause a number of problems depending on the type of neurofibromatosis and the number, size and location of the tumours.
- Neurofibromatosis type I (NF1) is caused by mutation in the neurofibromin gene.
- In a patient with neurofibromatosis type I, Upadhyaya et al.
- This appearance is characteristic of that of a plexiform neurofibroma, and pathognomonic for the diagnosis of Neurofibromatosis type I.
- Tuberous sclerosis, along with Neurofibromatosis type I, Neurofibromatosis type II (a.k.a.
- Yvonne Foong was diagnosed with neurofibromatosis type II (also known as NF II) in 2002.
- Among 18 cases of neurofibromatosis with hypertension, Kalff et al.
- Single cases of renovascular hypertension in neurofibromatosis were reported by Allan and Davies (1970), Finley and Dabbs (1988), and others.
- Neurofibromatosis is considered a member of the neurocutaneous syndromes ( phakomatoses).
- Kandt RS. Tuberous sclerosis complex and neurofibromatosis type 1: the two most common neurocutaneous diseases.
- Persons with neurofibromatosis will have caf--au-lait spots and multiple fibromas.
- The first noticeable sign of neurofibromatosis is usually the presence of multiple café-au-lait spots.
- Neurofibromatosis type 2 is due to mutation on chromosome 22q , the gene product is Merlin, a cytoskeletal protein.
- The characteristic symptoms of Neurofibromatosis Type 2 usually develop around the time of puberty or during early adulthood.
- Sexual development may be delayed or may occur early (precocious puberty) in individuals with neurofibromatosis type 1.
- Stephens K. Genetics of neurofibromatosis 1-associated peripheral nerve sheath tumors.
- Neurofibromatosis -often called "elephant man's disease" and results in tumors occurring along peripheral nerves.
- Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis).
- Neurofibromatosis (NF), or von Recklinghausen disease, is a genetic disease in which patients develop multiple soft tumors (neurofibromas).
- The cause of neurofibromatosis, or von Recklinghausen disease, is unknown but there is a genetic predisposition.
- Learning disabilities and even blindness and deafness can result from neurofibromatosis, as well.
- Daniel`s NF page The story of one child dealing with neurofibromatosis, hydrocephalus, optic glioma, blindness and learning difficulties.
- Adornato and Berg (1977) observed the diencephalic syndrome in 2 infants who had neurofibromatosis and hypothalamic tumors.
- Neurofibromatosis Nerve tissue tumors form in the skin, subcutaneous tissue, cranial nerves and spinal root nerves.
- Neurofibromatosis causes tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities.
- Neurofibromatosis Type 2 (NF-2) - group of inherited disorders in which noncancerous tumors grow on several nerves that usually include the hearing nerve.
- Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance.
- Examples of autosomal dominant disorders include: Marfan syndrome, neurofibromatosis, and Waardenburg syndrome.
- Mid-Atlantic (of the United States) Home page of NFMalaysia.org, a Malaysian effort to raise awareness for Neurofibromatosis.
- My book is called Faery Special Romances and will be released in May 2007 to coincide with Neurofibromatosis Awareness Month.
- These spontaneous or sporadic cases account for about one half of neurofibromatosis cases (ibid).
- However, everyone is at risk because 50% of cases result from spontaneous mutation in families with no previous history of neurofibromatosis.
- Von Recklinghausen's disease (neurofibromatosis) --- a genetic disorder of the nervous system.
- Neurofibromatosis patients are also at risk of developing other types of cancerous tumors of the nervous system.
- In Neurofibromatosis II, these tumors can occur anywhere in the body.
- Neurofibromatosis (NF) causes tumours to grow anywhere on or in the body.
- The symptoms of neurofibromatosis type 1 usually appear during childhood.
- Neurofibromatosis 2 is a subtype of neurofibromatosis Signs and symptoms usually appear during adolescence or in the early 20s.
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