Kozlowski K, Beighton P
Rofo. 1984 Sep;141(3):337-41. doi: 10.1055/s-2008-1053143.
We have reviewed the radiographic features of 19 patients with spondylo-epimetaphyseal dysplasia with joint laxity (SEMDJL). The salient, diagnostic radiographic manifestations are mild to moderate spondylo-epimetaphyseal dysplasia, progressive infantile kyphoscoliosis, characteristic pelvic, forearm and elbow changes and a highly abnormal bony trabecular pattern. The condition, which is inherited as an autosomal recessive, has only been observed in South Africa among Caucasians, several of whom have German names or German connections. The authors wish to bring the condition to the attention of European radiologists in an attempt to determine the geographic origin of the faulty gene.
我们回顾了19例患有脊椎骨骺发育不良伴关节松弛（SEMDJL）患者的影像学特征。显著的诊断性影像学表现为轻度至中度脊椎骨骺发育不良、进行性婴儿脊柱侧凸、特征性的骨盆、前臂和肘部改变以及高度异常的骨小梁模式。这种以常染色体隐性方式遗传的疾病仅在南非的高加索人群中被观察到，其中有几个人有德国名字或与德国有联系。作者希望引起欧洲放射科医生对这种疾病的关注，以便确定缺陷基因的地理起源。
