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脆骨蓝巩膜综合征(Van der Hoeve’s Syndrome)又称脆骨病,家族性成骨不全症,先天性成骨不全症。此病是一组遗传性疾病,其特征是有蓝色的巩膜,易骨折和传导性耳聋。我院曾遇一家三代患此病者四例,现报告如下: 例1 马×,女9岁,在1岁与4岁时因跌交引起左胫骨骨折两次。近四年患慢性支气管炎。个人史:第1胎足月顺产。体检:发育一般,营养较差,智力正常,听力正常,巩膜蓝色,发热或面红时蓝色加深,头发色黑有光泽,无其它畸形。例2 例1弟弟,6岁,在10个月时其母亲背时突然哭闹,发现左侧锁骨骨折。3岁时跌交引起左侧胫骨骨折一次,生后6个月至1岁时经常鼻衄。体
Van der Hoeve’s Syndrome (Van der Hoeve’s Syndrome), also known as brittle bone disease, familial osteosynthesis, congenital osteogenesis imperfecta. The disease is a group of hereditary diseases characterized by a blue sclera, an easy fracture, and conductive deafness. Our hospital has encountered a family of three patients with this disease in four cases, are as follows: Example 1 horse ×, female 9 years old, at the age of 1 and 4 due to the fall caused by the left tibial fractures twice. Nearly four years suffering from chronic bronchitis. Personal history: the first full-term birth of fetus. Physical examination: general development, poor nutrition, normal intelligence, normal hearing, blue sclera, blue or red when fever or blush, dark hair, shiny, no other deformities. Example 2 Case 1 younger brother, 6 years old, her mother suddenly crying at the age of 10 months and found the left clavicle fracture. 3-year-old fell to the left caused by a tibial fracture, 6 months after birth to 1 year old often nose epistaxis. body