Neurofibromatosis type 1--an update and review for the primary pediatrician.
With an incidence of 1 in 3,000, neurofibromatosis type 1 (NF1), or von Recklinghausen disease, is one of the most common genetic disorders encountered by primary care physicians. NF1 is a multisystem disease that affects more than one million people worldwide (more than 80,000 in the United States). Although most pediatricians have patients with NF1 in their practices, many affected individuals go undiagnosed as children. This article is intended to facilitate the diagnosis and management of young patients with NF1.
Goldberg
Y
Y
Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Los Angeles, CA, USA.
Dibbern
K
K
Klein
J
J
Riccardi
V M
VM
Graham
J M
JM
D000328:Adult; D002648:Child; D002675:Child, Preschool; D003695:Delivery of Health Care; D003937:Diagnosis, Differential; D005260:Female; D016514:Genes, Neurofibromatosis 1; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000628:therapy; D011247:Pregnancy; D011296:Prenatal Diagnosis