Gorlin R J, Koutlas I G
Department of Oral Science, University of Minnesota School of Dentistry, Minneapolis 55455, USA.
Am J Med Genet. 1998 Jun 16;78(1):76-81. doi: 10.1002/(sici)1096-8628(19980616)78:1<76::aid-ajmg16>3.0.co;2-l.
We report on a family of seven affected with a new syndrome of multiple deep schwannomas, multiple nevi (both intradermal and compound types), and multiple leiomyomas of the vagina. Inheritance is dominant, whether autosomal or X-linked cannot be determined at this time. The nevi, which are congenital, appear to be a marker for the syndrome. Both the schwannomas and leiomyomas do not manifest until adulthood.
我们报告了一个七口之家，他们患有一种新的综合征，其特征为多发深部神经鞘瘤、多发痣（包括皮内痣和复合痣）以及多发阴道平滑肌瘤。遗传方式为显性，目前尚无法确定是常染色体显性还是X连锁显性。这些先天性痣似乎是该综合征的一个标志。神经鞘瘤和平滑肌瘤在成年期之前均不表现出来。
