目的 了解发育性髋关节发育不良（developmental dysplasia of the hip，DDH）家系患者的临床表现及其危险因素。方法 对1个DDH家系中的全部成员进行详细的流行病学调查、体格检查、运动功能评定、实验室检查及X线拍片检查。结果 9代218人聚居的家系，现存145人中DDH的发生率为31．03％，患者主要表现为双侧膝关节和髋关节对称性疼痛，髋屈曲、内外旋、活动受限，部分患者出现关节运动功能障碍及畸形而跛行。影像学改变主要以髋臼浅平，倾斜度增加，对股骨头包容不足、股骨头形态失常、关节间隙狭窄呈退行性改变为主。DDH发生的主要危险因素为遗传因素、性别、出生的季节等，家系中双亲或一方为DDH者其子女发生DDH的危险性比非患者双亲高，有一级亲属患DDH者比二、三级亲属者患病的危险性高；女性患病高于男性，冬季出生者高于其它几个季节，但儿童青少年发病率与成人无差异，与家系无血缘关系的迁入者与有血缘关系的家族成员发病率也无差异。结论 遗传因素对发育性髋关节发育不良的发生有一定作用，但后天的一些环境因素也起着重要作用。
Objective To investigate the clinical manifestations and risk factors of the patients from developmental dysplasia of the hip（DDH） family. Methods Detailed epidemiology investigation, physical examination, functional movement assessment, lab test and X-ray examination were applied to the whole members of a DDH family. Results In the family with 9 generations and 218 persons, the incidence of DDH was 31.03% in 145 survivors. Patients mainly manifested bilateral knee and hip joint pain, flexion contracture of hip, limitation in internal and external rotation of hip; a few had arthritic functional disorder, deformation, and limp. The radiography illustrated shallow acetabulum with increased inclination, which encompassed the femoral head badly. Deformation of the femoral bead, narrow joint space and esteephyte were also found by X-ray examinaition. The main risk factors of DDH were genetic factors, gender, birth season etc. The son or daughter with one or two DDH parents had a higher risk for developing DDH than those with no DDH parents. Furthermore, first-degree relatives of the DDH patients also had a greater chance to develop DDH than second- degree relatives and third-degree relatives. The incidence among females was higher than males, and the family member who was given birth in winter had a highest risk for developing DDH. However, there was no difference between incidence of DDH in children and youths and in adults; the incidence of DDH in the immigrants with no blood relationship also did not differ from the incidence of DDH in the family member. Conclusion The genetic factors play an important role in the development of DDH, so do the environmental factors.
Chinese Journal of Medical Genetics
developmental dysplasia of the hip