患儿,男,3岁。因发热、抽搐于1991年9月27日入院。出生1月后曾多次因发热、无汗住院。自幼无汗,两岁出牙,能爬行,两岁半会走路,开始说话。体检:体重10kg,身长80cm,发育差,反应迟钝,皮肤干燥,弹性欠佳,无体毛,头发稀少,卷曲,易折断,脱落,额前突、前额、眼周、唇周皮肤有色素沉着及多道横行皱纹,眉毛、睫毛短少,鼻稍塌,出牙6颗,、位置,为特别长大畸形尖牙。诊断:无汗性外胚层发育不良综合征,为一少见的伴性连锁隐性遗传性疾病。母亲为携带者,在男性呈完全表现。其特征为:来源于外胚层的 Children, male, 3 years old. Due to fever, convulsions were admitted to hospital on September 27, 1991. After January, she was hospitalized for fever and sweatless many times. No sweat since childhood, two-year-old tooth, can crawl, two and a half will walk, began to speak. Physical examination: body weight 10kg, length 80cm, poor development, unresponsive, dry skin, poor elasticity, body hair, scarce, curly, easy to break, fall off, forehead, forehead, eyes, lip around the skin pigmentation and Multi-line rampant wrinkles, eyebrows, short lashes, nasal slump, teeth 6, the location, especially for large deformed canines. Diagnosis: no sweat ectodermal dysplastic syndrome, a rare complication of linked recessive genetic disease. The mother is a carrier who is fully shown in the male. It is characterized by: derived from the ectoderm