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例1.女,10岁.该儿初生时一般状况良好,1周岁前发育正常.之后发育逐渐落后于同龄儿,年龄愈增,差距越大.步态蹒跚,渐加剧至不能独立行走;智力进行性减退,不能数1～10位数,构音困难,语词单调.父母非近亲结婚,家族中无类似患者.查体;发育落后,智力低下.血压12/8kPa,身高110cm,体重15kg.颜面及手部皮肤有红色皮疹,忠儿对光敏感,面容早老,呈鸟样外貌(头小、钩鼻、凹眼、尖嘴、
Example 1. Female, age 10. The child is generally good at first birth, normal development before the age of 1. After development gradually lagging behind the same age children, the older, the greater the gap between the gait staggering, gradually aggravated to not be able to walk independently; intelligence Progressive decline, can not count the number of 1 to 10, dysarthria, monotonous words .Families marry non-relatives, family no similar patients. Physical examination; development lagging, mental retardation. Blood pressure 12 / 8kPa, height 110cm, weight 15kg. Face and hand skin with red rash, Zhong’er sensitive to light, facial premature, was bird-like appearance (head small, hooked nose, concave eyes, sharp mouth,