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患儿,男,1天,40~(+5)周顺产。Apgar评分10分,体重3900 g。全身皮肤、毛发和眼睛异常脱色。父母非近亲结婚,从事橡胶生意,无外地居留史,家族中无类似病史。查体:精神反应好,全身皮肤淡红色,头发和眉毛细丝状白色,双眼瞳孔红色,虹膜淡蓝色,偶见眼球震颤,畏光。心肺未见异常,肝脾未及。血常规:红细胞5.7×10~(12)/L,血红蛋白183 g/L,白细胞18.9×10~9/L,血小板195×10~9/L。临床诊断:白化病。患儿母乳喂养,住院3天,随
Children, male, 1 day, 40 ~ (+5) weeks of delivery. Apgar scored 10 points and weighed 3900 g. Body skin, hair and eye abnormal decolorization. Parents of non-relatives get married, engage in rubber business, no overseas residence history, no similar family history. Physical examination: good mental reactions, systemic skin pink, hair and eyebrows filamentous white, red eyes pupil, iris pale blue, occasionally nystagmus, photophobia. Heart and lung no abnormalities, liver and spleen not yet. Blood: RBC 5.7 × 10-12 / L, hemoglobin 183 g / L, white blood cells 18.9 × 10 ~ 9 / L, platelet 195 × 10 ~ 9 / L. Clinical diagnosis: albinism. Children breastfeeding, hospitalized 3 days, with