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1 病例介绍 患儿 女,6岁。因鼻衄,呕血1次入院。不伴皮肤出血,无血尿、黑便等病史。入院前1周患“上感”。入院血常规检查:血红蛋白(Hb)110 g/L,白细胞(WBC)5.3×10~9/L,中性0.58,淋巴0.42,血小板(BPC)19×10~9/L。以血小板减少性质待查收入院。既往史:3岁时曾出现血小板减少,骨穿结果不详,治疗后血小板恢复正常。家族史:患儿弟为死胎,合并双前臂缺如。父母体健,非近亲结婚,染色体检查正常。入院查体:体重11.5 kg、身长102cm、头围46cm、胸围44 cm、上部量56cm,下部量46 cm。身材矮小,营养差,全身皮肤色素深。未见皮疹及出血点,浅表淋巴结无肿大,毛发浓密,前额短。胸廓窄小,肋骨下垂。心肺未见异常。腹软,肝脾未扪及。左上臂较右上臂短(左前臂7.5 cm,右
1 case description children, 6 years old. Due to epistaxis, hematemesis 1 admission. Not accompanied by skin bleeding, no hematuria, melena and other medical history. One week before admission, he / she felt “feeling”. Admitted to the hospital for examination of blood: hemoglobin (Hb) 110 g / L, WBC 5.3 × 10 ~ 9 / L, neutral 0.58, lymph 0.42, platelet (BPC) 19 × 10 ~ 9 / L. The nature of thrombocytopenia to be admitted to hospital. Past history: 3 years old had thrombocytopenia, bone wear results unknown, platelets returned to normal after treatment. Family history: Children with dead fetus, lack of combined dual forearm. Parents healthy, non-relatives married, normal chromosome examination. Admission examination: weight 11.5 kg, body length 102cm, head circumference 46cm, bust 44cm, the upper amount 56cm, the lower amount 46cm. Short stature, poor nutrition, body skin darker. No rash and bleeding, superficial lymph nodes without swelling, thick hair, short forehead. Small thorax, ribs drooping. Heart and lung no abnormalities. Abdomen soft, liver and spleen not palpable. Left upper arm shorter than the right upper arm (left forearm 7.5 cm, right