The diagnosis of skeletal dysplasias: a multidisciplinary approach
The diagnosis of skeletal dysplasias: a multidisciplinary approach
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DOI：
10.1016/s0720-048x(01)00397-7
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发表时间：
2001-12-01
影响因子：
3.3
通讯作者：
Mortier, GR
中科院分区：
文献类型：
--
作者：
Mortier, GR
骨骼发育不良是影响骨骼形态发生和发育的遗传性结缔组织疾病。它们代表了一组不同的遗传疾病，迄今已描述了200多个不同的实体。由于这种多样性，骨骼发育不良的诊断通常是基于临床、放射学、形态学以及在某些情况下的生化和分子研究的组合。在过去的10年里，在阐明其中几种疾病的遗传缺陷方面取得了巨大的进展。这一进展为我们提供了更多关于控制正常骨骼发育的基因的见解。它还开辟了新的诊断视角。对于几种疾病，病因基因的识别使我们现在可以通过分子测试来确认基于临床、放射学和/或形态学研究的诊断假设。这也使我们能够在怀孕早期确定诊断。准确的诊断不仅对受影响的个体进行适当的治疗很重要，而且也是进行适当的遗传咨询的基石。(C)2001爱思唯尔爱尔兰科学有限公司。保留所有权利。
Skeletal dysplasias are heritable connective tissue disorders affecting skeletal morphogenesis and development. They represent a heterogeneous group of genetic disorders with more than 200 different entities being delineated to date. Because of this diversity, the diagnosis of a skeletal dysplasia is usually based on a combination of clinical, radiographic, morphologic, and, in some instances, biochemical and molecular studies. Tremendous advances have been made in the elucidation of the genetic defect of several of these conditions over the past 10 years. This progress has provided us with more insights into the genes controlling normal skeletal development. It also has opened new diagnostic perspectives. For several disorders, identification of the causal gene allows us now to confirm with a molecular test the diagnosis postulated on the basis of clinical, radiographic and/or morphologic studies. It also enables us to establish the diagnosis early in pregnancy. An accurate diagnosis is not only important for proper management of the affected individual but also the cornerstone for adequate genetic counseling. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.