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例1,男,6个月。因间歇性发热5个月伴面色苍白入院。患儿系第二胎足月顺产。其母妊娠期体健,父母系姨表兄妹婚配,祖父母系姑表兄妹婚配。体检:T37.8℃。皮肤粘膜苍白,无皮疹及出血点。方颅,两眼凝视,轻度突出,偶见眼球水平震颤。胸廓见赫氏沟及肋串珠,心肺(-)。腹膨隆,肝于右肋下8cm、剑下6cm,脾于左肋下12cm扪及。眼底检查:两眼视神经萎缩。红细胞227万/mm~3,血红蛋白
Example 1, male, 6 months. Intermittent fever for 5 months with pale pale hospitalization. Children with second-term full-term fetus. His mother’s health during pregnancy, parents aunt cousin marriage, grandparents and grandchildren cousin marriage. Physical examination: T37.8 ℃. Skin mucosal pale, no rash and bleeding points. Square cranial eyes staring, slightly prominent, and occasionally tremor eye level. Thoracic see Hirschness groove and rib beaded, cardiopulmonary (-). Abdominal bulge, the right rib in the liver 8cm, 6cm under the sword, spleen in the left rib 12cm palpable. Fundus examination: optic atrophy of both eyes. 2.27 million erythrocytes / mm ~ 3, hemoglobin