Published online February 29, 2008
PEDIATRICS Vol. 121 No. 3 March 2008, pp. 633-642 (doi:10.1542/peds.2007-3364)
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CLINICAL REPORT

Health Supervision for Children With Neurofibromatosis

Joseph H. Hersh, MD and Committee on Genetics

Neurofibromatosis 1 is a multisystem disorder that primarily involves the skin and nervous system. Its population prevalence is 1 in 3500. The condition usually is recognized in early childhood, when cutaneous manifestations are apparent. Although neurofibromatosis 1 is associated with marked clinical variability, most affected children do well from the standpoint of their growth and development. Some features of neurofibromatosis 1 are present at birth, and others are age-related abnormalities of tissue proliferation, which necessitate periodic monitoring to address ongoing health and developmental needs and to minimize the risk of serious medical complications. This clinical report provides a review of the clinical criteria needed to establish a diagnosis, the inheritance pattern of neurofibromatosis 1, its major clinical and developmental manifestations, and guidelines for monitoring and providing intervention to maximize the growth, development, and health of an affected child.


Key Words: neurofibromatosis • neurofibromatosis 1 • cafe-au-lait spots • neurofibroma • optic glioma

Abbreviations: NF1—neurofibromatosis type 1 • NF2—neurofibromatosis type 2 • NIH—National Institutes of Health • CLS—cafe-au-lait spot • UBO—unidentified bright object



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The following policy statement has been revised:

Health Supervision for Children With Neurofibromatosis

Pediatrics 96: 368-372.



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