Familial arthritis and camptodactyly.
Familial arthritis and camptodactyly.
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家族性关节炎和弯曲指。
DOI：
10.1002/art.1780240915
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发表时间：
1981
影响因子：
--
通讯作者：
Pagon,RA
中科院分区：
文献类型：
--
作者：
Malleson,P;Schaller,JG;Dega,F;Cassidy,SB;Pagon,RA
我们研究了一个家庭，其中慢性儿童关节炎和弯曲指（趾）畸形是遗传在一起，显然是一个常染色体显性模式。除了HLA-B27相关的关节炎，家族性关节炎是罕见的，明确的孟德尔遗传模式没有得到很好的认可（1，2）。弯曲指（趾）指（趾）（趾）指）（趾）（趾）指）（趾）（指）（指）（趾）（指）（指）作为一种孤立的异常，弯曲指（趾）畸形通常出现在儿童时期，通常作为常染色体显性遗传，严重程度不同（4）。弯曲指畸形也是约20种多系统疾病的一部分，这些疾病以常染色体显性遗传、常染色体隐性遗传或X连锁遗传（5）;这些疾病中没有一种包括滑膜炎作为表现。
We studied a family in which chronic childhood arthritis and camptodactyly are inherited together in an apparently autosomal dominant pattern. Except for HLA-B27 related arthritis, familial arthritis is rare and clear mendelian inheritance patterns are not well recognized (1, 2). Camptodactyly refers to congenital or acquired permanent flexion contractures of the fingers at the proximal interphalangeal (PIP) joints related to tightening of tissue outside the joints (3); this condition has not been considered to have an inflammatory basis. As an isolated anomaly, camptodactyly usually appears in childhood and is often inherited as an autosomal dominant trait with variable severity (4). Camptodactyly also occurs as part of some 20 various multisystem disorders inherited as autosomal dominant, autosomal recessive, or X-linked conditions (5); none of these disorders has included synovitis as a manifestation.