Gordon I R, David T J
J Med Genet. 1981 Aug;18(4):256-61. doi: 10.1136/jmg.18.4.256.
The Bristol Bone Dysplasia Registry was established in 1969. The panel included radiologists, paediatricians, orthopaedic surgeons, pathologists, a paediatric biochemist, an anatomist/anthropologist, a veterinary surgeon, dentists and oral surgeons, and a psychiatrist. The panel met every two months. Cases either entered the Registry directly if they were straightforward or after discussion by the panel if there was doubt about the diagnosis or a point of special interest. A total of 468 cases was collected, including 81 cases with miscellaneous bony disorders and 34 cases where the diagnosis was uncertain. The Registry provided a useful regional diagnostic service and promoted interest in body dysplasias. Some of the research aims have not yet been fully achieved. This paper explains how the Registry is run to help those whom it is hoped will set up similar registries elsewhere.
布里斯托尔骨发育异常登记处成立于1969年。小组成员包括放射科医生、儿科医生、骨科医生、病理学家、儿科生物化学家、解剖学家/人类学家、兽医、牙医和口腔外科医生，以及一名精神科医生。小组每两个月开会一次。如果病例情况简单，就直接进入登记处；如果对诊断有疑问或有特别感兴趣的点，则在小组讨论后进入。总共收集了468个病例，其中包括81例患有各种骨病的病例和34例诊断不确定的病例。该登记处提供了有用的区域诊断服务，并促进了对身体发育异常的关注。一些研究目标尚未完全实现。本文解释了登记处的运作方式，以帮助那些希望在其他地方建立类似登记处的人。
