Dahl N, Holmgren G, Holmberg S, Ersmark H
Department of Clinical Genetics, University Hospital, Uppsala, Sweden.
Arch Orthop Trauma Surg. 1992;111(2):121-3. doi: 10.1007/BF00443478.
We report the occurrence and distribution of 17 fractures in four patients with malignant, autosomal recessive osteopetrosis. The frequency of the disease in the Caucasian population is in the order of 1 per 20,000, of which the vast majority suffer from a mild autosomal dominant form. The patients have been followed up for 17-22 years and have multiple handicaps. Their case histories indicate that the lower extremity is the most common site for pathological fractures. The traumata were all caused by common accidents, usually falls. Conservative treatment was successful, with normal healing time in the four cases presented.
我们报告了4例恶性常染色体隐性骨硬化症患者中17处骨折的发生情况及分布。高加索人群中该病的发病率约为两万分之一，其中绝大多数为症状较轻的常染色体显性形式。这些患者已接受了17至22年的随访，存在多种残疾情况。他们的病史表明，下肢是病理性骨折最常见的部位。所有创伤均由常见事故引起，通常为摔倒。保守治疗取得成功，所呈现的4例均在正常愈合时间内痊愈。
