Raff M L, Byers P H
Department of Medicine, University of Washington, Seattle 98195, USA.
Curr Opin Rheumatol. 1996 Sep;8(5):459-66. doi: 10.1097/00002281-199609000-00012.
Inherited connective tissue disorders, among them Ehlers-Danlos syndrome, osteogenesis imperfecta, Marfan syndrome, and Larsen syndrome, are characterized by generalized joint hypermobility. Others, such as Morquio syndrome or achondroplasia, have hypermobility in a more limited distribution. Recent clinical and molecular genetic studies have defined the range of clinical variation and the underlying molecular defects in several disorders. These studies provide hope that more common varieties of joint hypermobility can be understood and that effective therapies are within reach.
遗传性结缔组织疾病，其中包括埃勒斯-当洛综合征、成骨不全症、马凡综合征和拉森综合征，其特征为全身关节活动过度。其他疾病，如莫尔基奥综合征或软骨发育不全，关节活动过度的分布则较为局限。最近的临床和分子遗传学研究已经明确了几种疾病的临床变异范围和潜在的分子缺陷。这些研究带来了希望，即更常见的关节活动过度类型能够被理解，有效的治疗方法也将指日可待。
