假性肥大型肌营养不良症(Ducherme muscu-lar dystrophy,DMD)是一种性联隐性遗传病,因此绝大多数患者为男性,有比较一致的临床表现。自1979年后由于遗传学研究的进展,学者们陆续报告典型假性肥大型肌营养不良症的女性患者。但对常染色体隐性遗传的类似假性肥大型的女性患者报告很少,现将我们见到两例类似假性肥大型肌营养不良症的女性患者的临床及遗传学研究报告如下,并略加讨论。病例报告例1.其父母为近亲结婚,患者系第三胎足月顺产, Ducherme muscu-lar dystrophy (DMD) is a sex-linked recessive disorder, so the vast majority of patients are male and have a consistent clinical presentation. Since 1979, due to the progress of genetics research, scholars have successively reported the female patients with typical Pseudo muscular dystrophy. However, there are few reports of autosomal recessive pseudo-hypertrophic female patients. We now report the following clinical and genetic studies of two female patients with pseudo-hypertrophic muscular dystrophy. Add discussion. Case report 1. His parents were married, the third trimester of patients with full-term follow-up,