Neurofibromatosis type 1: a multidisciplinary approach to care
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چکیده
منابع مشابه
Neurofibromatosis type 1: a multidisciplinary approach to care
Neurofibromatosis type 1 is a relatively common inherited disorder. Patients have a high predisposition to develop both benign and malignant tumours. Although many manifestations of neurofibromatosis type 1 affect the nervous system, other organs and tissues can also be affected. Because of the varying features and clinical heterogeneity inherent to this disorder, patients can present to differ...
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We read the Review on neurofi bromatosis type 1 (NF1) by Angela Hirbe and David Gutmann with great interest. Although Hirbe and Gutmann precisely described the genetic, phenotypic, and skin features, their focus is on the less frequent clinical manifestations including dysplastic abnormalities of the central and peripheral nervous system, changes to musculoskeletal and respiratory systems, and ...
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Williams syndrome (WS) is a highly distinct genetic syndrome with a unique constellation of medical and developmental problems and an associated characteristic personality profi le. It is a disorder that should be well-known to most pediatricians, in generalities if not in specifi cs. Although the management of certain problems may be best provided by a single specialist, other common challenge...
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Segmental neurofibromatosis type I (SNF-I) is a rare variant of neurofibromatosis (NF). It is classified as NF type V and defined as cafe'-au-lait macules and/or neurofibromas in a single ,unilateral segment of the body .We report two cases with SNF-I with striking similar manifestations.
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ژورنال
عنوان ژورنال: The Lancet Neurology
سال: 2014
ISSN: 1474-4422
DOI: 10.1016/s1474-4422(14)70063-8