一种鱼鳞病、肝脾肿大和小脑变性综合征。
A syndrome of ichthyosis, hepatosplenomegaly and cerebellar degeneration.
作者信息
Dykes P J, Marks R, Harper P S
出版信息
Br J Dermatol. 1979 May;100(5):585-90. doi: 10.1111/j.1365-2133.1979.tb05585.x.
Abstract
Two brothers are described with ichthyosis, hepatosplenomegaly and signs of cerebellar degeneration. The ichthyosis was similar to autosomal dominant ichthyosis both clinically and biochemically. No metabolic abnormality has yet been identified to account for this previously undescribed triad of abnormalities.
摘要
本文描述了两兄弟患有鱼鳞病、肝脾肿大及小脑变性体征。其鱼鳞病在临床和生化方面均与常染色体显性鱼鳞病相似。目前尚未发现代谢异常来解释这一此前未被描述的三联征异常。
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