Noltorp S, Kristoffersson U L, Mandahl N, Stigsson L, Svensson B, Werner C O
Ann Rheum Dis. 1986 Jan;45(1):31-6. doi: 10.1136/ard.45.1.31.
The present study shows the occurrence of the trichorhinophalangeal syndrome type I in a Swedish family. Five members were affected and they were examined clinically and radiologically, and four of them were also cytogenetically examined. Three of them had dysplasia of the hip joints reminiscent of the Legg-Calvé-Perthes disease. Functional hand problems were common. High resolution G banding displayed normal chromosome complements. The inheritance was autosomal dominant. The data presented stress the importance of identifying the syndrome early in life so as to prevent the development of impaired hand and hip function.
本研究显示瑞典一个家族中出现了I型毛发鼻指骨综合征。五名家族成员受此影响，对他们进行了临床和放射学检查，其中四人还进行了细胞遗传学检查。他们中有三人髋关节发育异常，类似Legg-Calvé-Perthes病。手部功能问题很常见。高分辨率G显带显示染色体组正常。该综合征为常染色体显性遗传。所呈现的数据强调了在生命早期识别该综合征的重要性，以便预防手部和髋关节功能受损的发展。
