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例1 患男,5岁。自小至今头发不长,不出汗,体温略高于正常人,常感冒发热。牙少,按低钙治疗无效。第1胎,足月,顺产,生后无窒息。家族中无同类患者,父母表型正常,唯其母眼裂略小。查体:体温37.8℃,发育营养中等,表情淡漠,说话少,声音低,对外界反应稍迟钝。老人外貌,脸尖,秃头,头发稀疏如短的黄绒毛。全身皮肤干燥,手掌、足底的皮肤角化明显。前囟已闭,颜面苍白
Example 1 suffering from men, 5 years old. Since childhood, hair is not long, not sweating, body temperature slightly higher than normal, often cold and fever. Tooth less, according to low calcium treatment is invalid. The first child, full-term, natural delivery, postnatal asphyxia. Family no similar patients, the normal phenotype of parents, only the mother’s eye fissure slightly smaller. Physical examination: body temperature 37.8 ℃, the development of nutrition is medium, apathetic expression, speak less, voice is low, the response to the outside world a little dull. Elderly appearance, face, bald, sparse hair, such as short yellow fluff. Dry skin, palms, plantar keratosis of the skin obvious. The anterior fontanel has closed, pale face