Abuelo D N, Meryash D L
Genetic Counseling Center, Rhode Island Hospital, Brown University Program in Medicine, Providence 02902.
Am J Med Genet. 1988 Apr;29(4):937-41. doi: 10.1002/ajmg.1320290426.
We present an 18-year-old man with neurofibromatosis (NF) and classic manifestations of the Noonan syndrome (NS), including the cardiac findings. His father also has neurofibromatosis but only some of the characteristics of Noonan syndrome. This case lends further support to the notion that the neurofibromatosis-Noonan syndrome (NF-NS) is a discrete entity and demonstrates that the NF-NS can be inherited, with variable expression of the Noonan phenotype within a family.
我们报告一名18岁男性，患有神经纤维瘤病（NF）及努南综合征（NS）的典型表现，包括心脏方面的表现。他的父亲也患有神经纤维瘤病，但仅有一些努南综合征的特征。该病例进一步支持了神经纤维瘤病-努南综合征（NF-NS）是一种独立疾病实体的观点，并表明NF-NS可呈家族性遗传，且家族中努南综合征表型存在可变表达。
