neurofibromatosis, type 1

Von Recklinghausen disease An AD condition affecting ± 100,000–US, due to a mutation of a gene on chromosome 17 Neurofibromatosis, type 1 diagnosis–2+ of following
6 or more 'cafe-au-lait' macules > 5 mm in greatest diameter in a prepubertal, or > 15 mm in greatest diameter in post-pubertal Pts 2 or more histologically-confirmed neurofibromas–or one plexiform neurofibroma Freckling in the axillary or inguinal regions Optic glioma 2 Lisch nodules–iris hamartomas, the most common feature of NF1 in adults Distinct bone lesions, eg sphenoid dysplasia, cortical thinning of long bones, pseudoarthrosis The person has a 1st-degree relative with NF1

单词	neurofibromatosis, type 1
释义	neurofibromatosis, type 1 neurofibromatosis, type 1 Von Recklinghausen disease An AD condition affecting ± 100,000–US, due to a mutation of a gene on chromosome 17 Neurofibromatosis, type 1 diagnosis–2+ of following 6 or more 'cafe-au-lait' macules > 5 mm in greatest diameter in a prepubertal, or > 15 mm in greatest diameter in post-pubertal Pts 2 or more histologically-confirmed neurofibromas–or one plexiform neurofibroma Freckling in the axillary or inguinal regions Optic glioma 2 Lisch nodules–iris hamartomas, the most common feature of NF1 in adults Distinct bone lesions, eg sphenoid dysplasia, cortical thinning of long bones, pseudoarthrosis The person has a 1st-degree relative with NF1
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