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166 WeiM.FabrizioP.HuJ.GeH.ChengC.LiL.et al (2008)

Gosselin, M.A

Diagnosis of Neurofibromatosis Type 1 Currently, diagnosis of NF1 is still mainly based on clinical observations.53 However, the timing of development of diagnostic criteria hinders diagnosis in small children and, in fact, only 46% of patients with no family history of the disease are diagnosed before the age of 2 years.54 In recent years, several authors have proposed the inclusion of other cutaneous findings such as NAs and xanthogranulomas in the diagnostic criteria to facilitate diagnosis in this age group,25,7,27 and some authors go as far as to propose a revision and update of the classical clinical criteria.27,55 Genetic diagnosis of NF1 is not generally available

Trials 22(1):231