关键词: Ⅰ型神经纤维瘤 家系 常染色体显性遗传病

Abstract: Objective To confirm the hereditary mode and the clinical manifestations of a Neurofibromatosis family with a patient develops a huge plexiform neurofibroma on the face. Methods The clinical manifestations was checked based on the standard diagnostic criteria for NF1 issued by National Institute of Health (NIH) in 1988, then the pedigree analysis and chromosome examination were carried out. Results Four clinical features of Neurofibromatosis type 1 (NF1) was shown in three of the seven members in the family. The chromosome phenotype in is normal, but Pedigree analysis showed NF1 in this family to corresponds autosomal dominant features. Conclusions Neurofibromatosis in this family is a NF1 family，and is autosomal dominant inherited disease.

Key words: Neurofibromatosis type 1 family autosomal dominant disorder