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患者女 ,2 .5岁 ,反复上呼吸道感染收入院。体格检查 :方颅 ,生长发育差 ,眼球震颤 ,口唇青紫 ,肝脾未触及。Ｂ超检查正常 ,心肺正常。否认家族遗传史及近亲结婚。Ｘ线检查 (图 1～ 3) :全身骨骼普遍性密度增高 ,方颅 ,颅底骨质密度增高 ,乳突及副鼻窦发育差 ,双侧肱、尺桡骨、
Female patient, 2.5 years old, repeated upper respiratory tract infection hospital. Physical examination: Cranium, poor growth and development, nystagmus, blue lips, liver and spleen not touched. B-ultrasound is normal, normal heart and lung. Denied family history and close relatives married. X-ray examination (Figure 1 ~ 3): the general increase in systemic bone density, square cranial skull base bone density increased mastoid and paranasal sinus poor development, bilateral brachial, ulna and radius,