Article Text

Download PDFPDF
Von Recklinghausen neurofibromatosis and genetic linkage studies: clinical considerations.
  1. V M Riccardi,
  2. J C Carey
  1. NF Program, Baylor College of Medicine, Houston, Texas 77030.


    For genetic linkage purposes, a subject at risk for Von Recklinghausen neurofibromatosis (VRNF) is one who has a first degree relative with independently documented VRNF. The presence of one or more of the designated criteria establishes the phenotypic diagnosis of VRNF in a subject at risk regardless of age. The absence of all of these criteria excludes the phenotypic diagnosis for all at risk subjects over five years of age. The absence of all the criteria in subjects at risk below five years of age or the presence of equivocal or merely suggestive findings neither excludes nor substantiates the phenotypic diagnosis of VRNF; rather, that subject should be removed from the preliminary scoring and analyses of the data.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.