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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

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