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例一,孟××,女,28岁。因左眼胀痛伴恶心呕吐于1984年8月17日来院就诊。平素身体健康,无外伤史。查体:患者神志清,智力迟钝,头发黄细无光泽。面颊潮红,胸廓略向前突。心、肺、肝、脾未见异常。X 线片示长骨骨质及胸腰椎均有轻度骨质疏松表现。尿硝普化钢试验为强阳性。父母非近亲结婚,生育子女5人,均为足月顺产。父母上代无同样病情。1984年11月家庭随访时发现先证者姨表兄也患此病(例二)。眼部:左眼0.08,睫状充血,角膜轻度水肿,瞳孔6毫米大,无对光反射,眼底不能窥见。晶状体全部脱入前房,眼压43.38毫
Example one, Meng × ×, female, 28 years old. Due to left eye pain with nausea and vomiting in August 17, 1984 came to hospital. Normal physical health, no history of trauma. Physical examination: patients with clear consciousness, mental retardation, dull yellow hair. Cheeks flush, thorax slightly forward. Heart, lung, liver, spleen no abnormalities. X-ray showed long bone and thoracolumbar spine have mild osteoporosis. Urine nitroprusside test is strongly positive. Parents of non-relatives married, 5 children of childbearing, all full-term birth. No previous generation of parents the same illness. 1984 November family visit found that probands aunt cousin also suffering from the disease (Case 2). Eye: Left eye 0.08, ciliary congestion, mild corneal edema, pupil 6 mm, no light reflex, retinoscopy can not glimpse. All the lens into the anterior chamber, intraocular pressure 43.38 milliliters