Tyler K, Sarioglu N, Kunze J
Kinderklinik, Institut für Humangenetik, Humboldt-Universität zu Berlin, Germany.
Am J Med Genet. 1999 Mar 5;83(1):47-52. doi: 10.1002/(sici)1096-8628(19990305)83:1<47::aid-ajmg9>3.0.co;2-5.
We describe a family with two marriages of first cousins and a total of five children with opsismodysplasia. The diagnosis was based on clinical, radiological, and immunhistochemical findings. Helpful to the diagnosis was the testing with type I collagen antibodies, showing abnormally high levels in the hypertrophic area of growth cartilage. This observation supports the hypothesis of autosomal recessive transmission of opsismodysplasia.
我们描述了一个有两例近亲结婚且共有五个患有迟发性骨发育异常孩子的家庭。诊断基于临床、放射学和免疫组织化学检查结果。I型胶原抗体检测对诊断有帮助，结果显示生长板肥大区域水平异常升高。这一观察结果支持迟发性骨发育异常常染色体隐性遗传的假说。
