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患儿,男,4小时。因四肢活动差、肌张力减弱伴呼吸促入院。患儿为第三胎第三产,足月头位产,生后1分钟Apgar评分5分,出生体重4600g。患儿母亲妊3产3,前二胎均为女孩,均因患婴儿型进行性脊肌萎缩症于生后不久死于“肺炎”。其父母否认近亲婚配,家系其他成员无类似病史。体检:面色青紫,呼吸促,皮肤紫红,双上肢屈曲90°,双下肢呈“蛙腿状”,心肺腹无明显异常,四肢肌张力低下,上肢能屈曲抬起90°,双下肢仅能水平移动,刺激时足趾活动,牵拉反射头完全后垂,膝腱反射减
Children, male, 4 hours. Due to poor limb activity, weakening of muscle tone with respiratory promote hospital. Children with third trimester of third trimester, full-term head production, 1 minute after birth Apgar score 5 points, birth weight 4600g. Pregnant women with 3 pregnancies 3, 3, the first two were girls, were suffering from infantile progressive spinal muscular atrophy died of “pneumonia” soon after birth. Their parents denied the marriage of their cousins, and other members of the pedigree had no similar medical history. Physical examination: bruising, breathing, skin purple, double upper limb flexion 90 °, both lower extremities were “frog legs,” no obvious cardiopulmonary abdominal abnormalities, lower extremity muscle tension, upper limb flexion raised 90 °, both lower extremities only level Move, stimulate the toe activity, pulling the head completely drooping, knee tendon reflex