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患儿男,2.5岁,主诉全口无牙齿,平时不能耐热,夏季经常发热,喜喝水,多尿、全身无汗。检查:发育正常,营养中等,四肢形态无异常。全身皮肤无汗毛,光亮细薄,呈干燥状态。毛果芸香碱出汗试验,无汗液分泌。毛发稀疏黄细,眉毛睫毛缺如。眼裂略小,眼睑及周围皮肤可见皱裂和色素,鞍鼻,似老人容貌。智力及听力正常。牙槽骨
Children male, 2.5 years old, complained of full mouth no teeth, usually not heat-resistant, summer fever, hi drink water, polyuria, sweat-free body. Check: normal development, moderate nutrition, limbs, no abnormalities in morphology. Body sweat-free hair, bright thin, was dry. Pilocarpine sweating test, no sweat secretion. Hair thin yellow, eyebrows missing eyelashes. Eyelid slightly smaller, eyelid and surrounding skin visible wrinkles and pigment, saddle nose, looks like the elderly. Normal intelligence and hearing. Alveolar bone