Stoll C, Alembik Y, Dott B
Service de Génétique Médicale, Centre Hospitalo-Universitaire, Strasbourg, France.
Ann Genet. 1996;39(2):75-80.
Distal arthrogryposis type I is defined by congenital joint contractures of hands and feet and is inherited in an autosomal dominant fashion. The hands are most frequently involved than the feet, 98% and 88% of the cases, respectively. The authors report a family with five patients affected over four generations. This family demonstrates the marked intra-familial variability in expression of this condition. Inter-familial variability is also typical of distal arthrogryposis type I.
I型远端关节挛缩症由手足先天性关节挛缩所定义,呈常染色体显性遗传。手部受累的频率高于足部,分别为98%和88%的病例。作者报告了一个四代中有五名患者受累的家族。该家族显示了这种疾病在家族内表达的显著变异性。家族间变异性也是I型远端关节挛缩症的典型特征。