Table 1

Prevalence of common clinical features of NF1 in this study and in previously published studies

Clinical featurePrevalence in this study (%)Prevalence in previous studies (%)References
CAL macules98100 (at 15 years of age) 2, 23, 27
Axillary freckling4185 71, 72
Neurofibromas8198–100 27, 72
Lisch nodules8292–95 27, 73
Macrocephaly4045 27, 74
Short stature5030–40 27, 72
OFC/height ratio⩾95%97UnknownNone
Pectus excavatus12Up to 30 71, 72
Learning difficulty3530–60 75, 76
Plexiform neurofibromas3727 27