Clinical phenotype of South African children with neurofibromatosis 1.

Abstract excerpt

Forty-eight children with neurofibromatosis 1 presenting between 2000 and 2004 were reviewed for their clinical phenotype, and data were compared with published reports. The median age at presentation was 4 years (range 10 days to 12 years). The male to female ratio was similar (22 male:26 female). There were frequencies of café au lait spots, axillary freckling, Lisch nodules, and new mutations comparable to...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cafe-au-Lait Spots
• Share to Child Behavior Disorders