Horton W A, Collins D L, DeSmet A A, Kennedy J A, Schimke R N
Am J Med Genet. 1980;6(3):221-8. doi: 10.1002/ajmg.1320060306.
We describe a family in which many persons have generalized joint laxity frequently complicated by dislocation of major joints. The condition is an autosomal dominant trait, with high penetrance. The disorder observed in this family and in others from the literature appears to be a specific syndrome that can be distinguished from other familial forms of joint laxity such as simple familial joint laxity and the Ehlers-Danlos syndromes. It has been designated the familial joint instability syndrome.
我们描述了一个家族，其中许多人存在全身关节松弛，常伴有主要关节脱位。这种情况是一种常染色体显性性状，具有高外显率。在这个家族以及文献中其他家族所观察到的这种病症似乎是一种特定的综合征，可与其他家族性关节松弛形式（如单纯家族性关节松弛和埃勒斯-当洛综合征）相区分。它已被命名为家族性关节不稳定综合征。
