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先证者Ⅲ_(25),男,2~+岁,生后第一天即出现发热,体温高达40℃,以后常易发热,以夏季更甚,高热时需醇浴或冷水浴方可退热,从不出汗,头发稀少,喜冷水浴,喜赤脚。系第3胎第3产,足月顺产,出生体重2500g。1岁半后开始叫爸爸,至今只能发单音,不会短语。1岁多会扶站,现仅能扶走,2岁开始长牙。体查:T39.6℃,P140次/分,R40次/分,身高72cm,体重9kg,头围43cm,胸围45cm,表情呆
Proximals Ⅲ_ (25), male, 2 ~ + years old, that is, the first day after birth, fever, body temperature up to 40 ℃, after the usual fever, even more in summer, high fever when alcohol or cold water baths can be retreat Hot, never sweating, scarce hair, hi cold bath, like barefoot. Department of the first 3 births, full-term birth, birth weight 2500g. After 1 and a half years old, she started to call her father, so far she can only play singletons without any phrases. 1-year-old will help station, are only able to walk away, 2-year-old began to teeth. Physical examination: T39.6 ℃, P140 beats / min, R40 beats / min, height 72cm, weight 9kg, head circumference 43cm, chest circumference 45cm, expression stay