Abstract
Ataxia-telangiectasia is an autosomal recessive disorder characterized by early ataxia, oculocutaneous telangiectasias, sinopulmonary infections, selective immunodeficiency, and a high risk of malignancy. The appearance of the telangiectasias often allows the diagnosis to be made in a child with ataxia.
摘要
共济失调毛细血管扩张症是一种常染色体隐性疾病，其特征为早期共济失调、眼皮肤毛细血管扩张、鼻窦肺部感染、选择性免疫缺陷以及患恶性肿瘤的高风险。毛细血管扩张的出现常有助于对患有共济失调的儿童做出诊断。
Zotero 插件