遗传性神经皮肤血管瘤：一种新的遗传实体？
Hereditary neurocutaneous angioma: a new genetic entity?
作者信息
Zaremba J, Stepień M, Jelowicka M, Ostrowska D
出版信息
J Med Genet. 1979 Dec;16(6):443-7. doi: 10.1136/jmg.16.6.443.
Abstract
A family pedigree with a possible new genetic syndrome characterised by the presence of angiomas, systemic in nature, affecting particularly the skin and the central nervous system, is described. Angiomas of the CNS seem to have a marked tendency to bleed. The condition shows a clearly dominant mode of transmission, four subjects in three generations being affected. Differentiation from other conditions belonging to the vascular abnormalities subgroup of phakomatoses is presented.
摘要
本文描述了一个家系谱系，其可能代表一种新的遗传综合征，特征为存在本质上全身性的血管瘤，尤其影响皮肤和中枢神经系统。中枢神经系统的血管瘤似乎有明显的出血倾向。这种病症呈现出明显的显性遗传模式，三代中有四名患者受影响。文中还介绍了与其他属于错构瘤病血管异常亚组的病症的鉴别。
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