蓝巩膜脆骨综合征较少见,我院于1933遇一典型病例,并做了家系调查,结果该家系是继续四代的常染色体显性遗传。现报告如下。 男,21岁,吉林工大学生,因摔伤后左下肢活动障碍3个(?),1938—11—26急诊入院。住院期间拍右膝关节正侧位相,见右膝部髌骨下端有骨片游离。诊断,右髌骨下端撕脱性骨折。用石膏托固定6周后痊愈。1983—01—10日又因右膝部摔伤二欠入院,右膝关节正侧位片报告:右膝部骨髌下部质明显疏松, Blue sclera brittle syndrome is rare, our hospital in 1933 met a typical case, and did a pedigree investigation, the results of the family is the four generations of autosomal dominant inheritance. The report is as follows. Male, 21 years old, Jilin University students, because of falling left leg dysfunction 3 (?), 1938-11-26 emergency admission. During the hospitalization of the right knee right lateral phase, see the right knee patella free bone fragments. Diagnosis, right patella avulsion fracture. Healed with plaster for 6 weeks. 1983 - 01-10 due to falls in the right knee and two due to admission, the right knee is lateral report: the right knee patellar osteoporosis was significantly loose,