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患儿男,10个月。一周前因咳喘以支气管肺炎伴心衰及手足先天性畸形入院。查体:头颅方、大,且不对称。前额弓稍前突,眼距增宽,双耳下移,低于眼裂,鼻梁低平,鼻孔增大,鼻翼稍扩大,舌稍厚。鸡胸,有郝氏沟及串珠肋,两肺少量湿罗音。腹部膨隆,肝肋下2.5cm,脾肋下1.0cm,脊柱稍后突,双手肥厚,第三、四指等长,第五指向内侧弯曲,双足平。阴茎大,龟头外露,尿道口下裂。血红蛋白85g/L,白细胞8×10~9/L,N52%,L46%。血钾、钠、氯、钙及肝功能、碱性磷酸酶、血尿素氮均正常。总蛋白45.8g/L,白蛋白28g/L,球蛋白17.1g/L,A/G=1.68:1。末梢血:淋巴细胞的胞浆中可见大小
Children male, 10 months. A week ago due to cough and bronchial pneumonia with heart failure and hand-foot congenital malformations admitted. Physical examination: head side, large, and asymmetric. Prefrontal protrusion of the forehead bow, eyes widened, ears down, lower than the eye crack, nasal flat low, nostril increases, slightly expanded nose, slightly thicker tongue. Chicken breast, there are Hao ditch and beaded ribs, a small amount of wet lung rales two lungs. Abdominal bulging, liver ribs 2.5cm, splenic ribs 1.0cm, spine slightly later, his hands hypertrophy, the third and fourth fingers equal length, the fifth point to the medial bending, bipedal flat. Big penis, glans exposed, urethral mouth cracking. Hemoglobin 85g / L, white blood cells 8 × 10 ~ 9 / L, N52%, L46%. Blood potassium, sodium, chlorine, calcium and liver function, alkaline phosphatase, blood urea nitrogen were normal. Total protein 45.8 g / L, albumin 28 g / L, globulin 17.1 g / L, A / G = 1.68: 1. Peripheral blood: the size of lymphocytes visible in the cytoplasm