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先证者(Ⅲ_4),男,32岁。因腰痛6月,诊断为腰间盘突出症而入院。全身检查:除X光及CT证实为腰间盘突出外,未见其它异常。无骨折病史,听力正常。经大重量牵引疗法治疗亦未发生骨折。眼部检查:双眼视力均为1.2,双眼巩膜明显蓝色,余完全正常。家系调查共发现13名患者,见附图,其共同特征是出生时巩膜明显蓝色,均无反复骨折及耳聋病史。
Proof (Ⅲ_4), male, 32 years old. Due to low back pain in June, diagnosed as lumbar disc herniation and admission. Whole body examination: In addition to X-ray and CT confirmed as lumbar disc herniation, no other abnormalities. No history of fracture, normal hearing. After the treatment of large weight traction therapy did not fracture. Eye examination: binocular vision are 1.2, blue eyes sclera significantly, I completely normal. A total of 13 patients were found in the pedigree survey. See the accompanying drawings. Their common feature is the clear blue sclera at birth, with no history of repeated fractures and deafness.