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For a diagnosis of NF-1, at least 2 of the diagnostic criteria should be present3
NF-1 Diagnostic Criteria Patient 1 Patient 2 Patient 3 Patient 4 Patient 5 Six or more café au lait macules >5 mm in greatest diameter in prepubertal individuals and >15 mm in greatest diameter in postpubertal individuals Yes Yes Yes Yes Yes Two or more neurofibromas of any type or 1 plexiform neurofibroma Yes Freckling in the axillary or inguinal regions Yes Yes Yes Yes Yes Optic glioma Yes Yes Two or more Lisch nodules (iris hamartomas) Yes Yes Yes A distinctive osseous lesion such as sphenoid dysplasia or tibial pseudarthrosis A first-degree relative (parent, sibling, or offspring) with NF-1 as defined by the above criteria Yes Yes Unknown (adopted) MRI findings: focal abnormal signal intensities Yes Yes Yes Yes Yes
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