一种隐性遗传的风车状手指弯曲/鱼鳞病综合征。
A recessively inherited windmill-vane camptodactyly/ichthyosis syndrome.
作者信息
Baraitser M, Burn J, Fixsen J
出版信息
J Med Genet. 1983 Apr;20(2):125-7. doi: 10.1136/jmg.20.2.125.
Abstract
A brother and sister are described with a syndrome, not previously reported, of distal arthrogryposis, facial immobility, and generalised ichthyosis.
摘要
据描述，有一对兄妹患有此前未报道过的综合征，其症状包括远端关节挛缩、面部活动障碍和全身性鱼鳞病。
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