一种新的屈曲指综合征。
A new camptodactyly syndrome.
作者信息
Baraitser M
出版信息
J Med Genet. 1982 Feb;19(1):40-3. doi: 10.1136/jmg.19.1.40.
Abstract
A family is reported in which scoliosis and camptodactyly occurred in members over four generations. Additional features were torticollis, fusion of cervical vertebrae, and occasional limitation of joint movement in the upper limbs. Inheritance is autosomal dominant.
摘要
据报道，有一个家族四代以上成员出现脊柱侧弯和屈曲指。其他特征包括斜颈、颈椎融合以及上肢关节活动偶尔受限。遗传方式为常染色体显性遗传。
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