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女,7/2岁。生后2月进行性腹大;乏力,间断性腹泻,间歇鼻衄4月入院。无发作性出汗、面苍白、昏迷及惊厥史。系第二胎,其生长发育史正常。祖父及外祖母系同父异母兄妹。父母健康,兄健康,近亲无类似疾病。 体查:体温37℃脉搏120次,呼吸36次。体重15kg,身长85cm,矮胖。神清,软弱,面容丰满。无黄疸,无皮疹。心肺正常。腹隆起,腹壁静脉不充
Female, 7/2 years old. Birth in February for large abdominal; weakness, intermittent diarrhea, intermittent epistaxis in April hospitalization. No episodes of sweating, pale face, coma and history of convulsions. Department of the second child, whose growth and development history is normal. Grandfather and grandmother are half brothers and sisters. Parents healthy, brother healthy, no relatives close relatives disease. Physical examination: body temperature 37 ℃ pulse 120 times, breathing 36 times. Weight 15kg, length 85cm, Chunbu. Clear, weak, full face. No jaundice, no rash. Cardiopulmonary normal. Abdominal uplift, abdominal wall is not filled