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本文报告同一家族中3例罕见的肌营养不良,并结合文献进行讨论。例1:男性20岁,出生9个月才会翻身,14个月能站立,18个月会行走(趾行),智力及言语发育较晚。2岁出现肘挛缩,肌无力呈缓慢进展,18岁后病情停止发展。由于肌无力经常跌倒,不能从仰卧位坐起。检查身高155cm,前额隆起,两耳低位,胸脊柱轻度向右侧凸,脊柱弯曲受限。肘呈屈曲挛缩其伸展限于90°,双膝关节挛缩屈曲约70°。双足马
This article reports three rare cases of muscular dystrophy in the same family and discusses them in combination with the literature. Example 1: Male 20 years old, 9 months after birth will stand up, 14 months to stand, 18 months will walk (toe line), mental and speech development later. 2-year-old elbow contracture occurred, muscle weakness was slow progress, the disease stopped growing after the age of 18. Due to muscle weakness often fall, can not sit from supine position. Check height 155cm, forehead uplift, ears low, mild thoracic spine convex to the right, limited curvature of the spine. Elbow flexion contracture its extension is limited to 90 °, double knee contracture flexion of about 70 °. Bipedal