Ontology highlight
ABSTRACT:
SUBMITTER: Kimura M
PROVIDER: S-EPMC3603612 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Kimura Masato M Kakizaki Shuhei S Kawano Kengo K Sato Shinichi S Kure Shigeo S
Case reports in pediatrics 20130304
Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant genetic disorder with a prevalence of 1 in 3,000 (0.03%) at birth. Clinical features are café-au-lait macules, intertriginous freckling, dermal neurofibroma, iris hamartoma (Lisch nodules), and learning disability. NF1 vasculopathy is a serious but underrecognized complication involving the cerebrovascular and cardiovascular systems. The incidence of hypertension in patients with NF1 is around 1% and is associated mainly wi ...[more]