The London Dysmorphology Database.
The London Dysmorphology Database.
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伦敦畸形数据库。
DOI：
10.1136/jmg.24.8.509
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发表时间：
1987
影响因子：
4
通讯作者：
M. Baraitser
中科院分区：
文献类型：
--
作者：
R. Winter;M. Baraitser
SIR，Brandl 和 Grimm 在本期发表的论文描述了伦敦畸形数据库染色体补充的创建，为报告最新进展提供了一个有用的机会。该数据库的最初目的是帮助经验丰富的畸形学家对具有多种先天性异常的疑难病例做出正确的诊断。数据库的设计和范围在其他地方进行了描述，2但值得强调的是，我们的目标是为畸形学家提供特定病例的可能诊断列表和参考，而不是让计算机单独做出诊断。我们认为，对于非常罕见的情况，只有专家才能根据丰富的临床经验，通过比较临床特征来决定诊断是否正确。因此，该数据库并未被设计为非专业人士的工具。另一个目标是检测新的畸形模式，为此，我们创建了一个未确诊病例的数据库，并开发了对病例进行分组的方法，以便识别“新”情况。3最后，文献数据库的开发导致了其他项目，包括创建涵盖临床遗传学其他分支的数据库。
SIR, The paper by Brandl and Grimm' in this issue, describing the creation of a chromosome supplement to the London Dysmorphology Database, provides a useful opportunity to report on recent progress. The initial purpose of the database was to help experienced dysmorphologists to arrive at the correct diagnosis in difficult cases with multiple congenital anomalies. The design and scope of the database is described elsewhere,2 but it is worth emphasising that our goal has been to provide the dysmorphologist with a list of possible diagnoses for a particular case, with references, rather than have the computer make the diagnosis alone. We feel that with very rare conditions, only an expert can decide whether a diagnosis is correct, by comparison of clinical features in the light of extensive clinical experience. Thus, the database has not been designed as a tool for the non-specialist. Another aim has been to detect new patterns of malformation and to this end we have created a database of undiagnosed cases and have developed methods to group cases, in order to recognise 'new' conditions.3 Finally, the development of the literature database has led to other projects, involving the creation of databases covering other branches of clinical genetics.