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dc.contributor.authorEvans, D Gareth Ren
dc.contributor.authorHuson, S Men
dc.contributor.authorDonnai, Den
dc.contributor.authorNeary, Wen
dc.contributor.authorBlair, Valen
dc.contributor.authorNewton, Ven
dc.contributor.authorStrachan, Ten
dc.contributor.authorHarris, Ren
dc.date.accessioned2010-08-16T14:52:49Z
dc.date.available2010-08-16T14:52:49Z
dc.date.issued1992-12
dc.identifier.citationA genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. 1992, 29 (12):847-52 J. Med. Genet.en
dc.identifier.issn0022-2593
dc.identifier.pmid1479599
dc.identifier.doi10.1136/jmg.29.12.847
dc.identifier.urihttp://hdl.handle.net/10541/109661
dc.description.abstractThe major defining features, age at onset of symptoms, and survival in 150 patients with type 2 neurofibromatosis (NF2) have been studied. The mean age at onset was 21.57 years (n = 110) and no cases presented after 55 years of age. Patients presented with symptoms attributable to vestibular schwannomas (acoustic neuroma), cranial meningiomas, and spinal tumours. In 97 cases studied personally by the authors, skin and eye examination were found to be useful to detect early signs of the condition. Examination of the skin is likely to assist in early diagnosis in at least 10% of cases and examination of the eye for a lens opacity or cataract in at least as many again. There are marked interfamilial differences in disease severity and tumour susceptibility. Vestibular schwannomas are not fully penetrant, but the condition is usually expressed in another way. Alteration to the current diagnostic criteria is advocated to cover the lack of provision for new mutations. A screening protocol is proposed and the effect of disease heterogeneity on management is discussed.
dc.language.isoenen
dc.subjectSkin Canceren
dc.subject.meshAdolescent
dc.subject.meshAdult
dc.subject.meshAge Factors
dc.subject.meshAged
dc.subject.meshCataract
dc.subject.meshGenes, Neurofibromatosis 2
dc.subject.meshGenetic Counseling
dc.subject.meshGenetic Testing
dc.subject.meshGenetic Variation
dc.subject.meshGreat Britain
dc.subject.meshHumans
dc.subject.meshLife Tables
dc.subject.meshMiddle Aged
dc.subject.meshNeurofibromatosis 2
dc.subject.meshSkin Neoplasms
dc.titleA genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling.en
dc.typeArticleen
dc.contributor.departmentDepartment of Medical Genetics, St Mary's Hospital, Manchester.en
dc.identifier.journalJournal of Medical Geneticsen
html.description.abstractThe major defining features, age at onset of symptoms, and survival in 150 patients with type 2 neurofibromatosis (NF2) have been studied. The mean age at onset was 21.57 years (n = 110) and no cases presented after 55 years of age. Patients presented with symptoms attributable to vestibular schwannomas (acoustic neuroma), cranial meningiomas, and spinal tumours. In 97 cases studied personally by the authors, skin and eye examination were found to be useful to detect early signs of the condition. Examination of the skin is likely to assist in early diagnosis in at least 10% of cases and examination of the eye for a lens opacity or cataract in at least as many again. There are marked interfamilial differences in disease severity and tumour susceptibility. Vestibular schwannomas are not fully penetrant, but the condition is usually expressed in another way. Alteration to the current diagnostic criteria is advocated to cover the lack of provision for new mutations. A screening protocol is proposed and the effect of disease heterogeneity on management is discussed.


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