Neurofibromatosis 1: clinical review and exceptions to the rules.

Abstract:

:Neurofibromatosis 1 is an autosomal dominant, multisystem disorder with myriad clinical manifestations. Between 1991 and 1998, 495 adults and children were diagnosed with neurofibromatosis 1 at a specialized neurogenetics clinic in Sydney, Australia. This review establishes the prevalence of the clinical manifestations of neurofibromatosis 1 in these patients and provides guidelines for assessment and management. In addition, we review in detail patients who had unusual presentations and who represent important "exceptions to the rules" of clinical practice.

journal_name

J Child Neurol

authors

Young H,Hyman S,North K

doi

10.1177/088307380201700812

subject

Has Abstract

pub_date

2002-08-01 00:00:00

pages

613-21; discussion 627-9, 646-51

issue

8

eissn

0883-0738

issn

1708-8283

journal_volume

17

pub_type

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