Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.
Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.
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DOI：
10.1002/ajmg.a.36545
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发表时间：
2014-06
影响因子：
2
通讯作者：
Sillence, D. O.
中科院分区：
文献类型：
--
作者：
Van Dijk, F. S.;Sillence, D. O.
最近，silent等人在1979年提出的成骨不全症（osteogenesis imperfecta， OI）的遗传异质性已经通过分子遗传学研究得到证实。目前，已经确定了17种成骨不全和密切相关疾病的遗传原因，预计会有更多的遗传原因。与过去十年中发表的大多数关于导致成骨不全的遗传原因和生化过程的综述不同，本综述侧重于成骨不全的临床分类，并详细阐述了2010年新提出的成骨不全分类，该分类回归到五个成骨不全综合征组的描述性和数值分组。本综述介绍了新的成骨不全命名法和产前产后严重程度评估，强调了表型在诊断、分类和评估成骨不全严重程度中的重要性。这将为患者及其家属提供对疾病可能的病程的深入了解，并使医生能够评估治疗的效果。仔细的临床描述，结合对特定分子遗传原因的了解，是开发和评估遗传性疾病（包括成骨不全）患者治疗的起点。©2014作者。美国医学遗传学杂志，Wiley期刊公司出版。这是一篇在知识共享署名-非商业-禁止衍生许可条款下的开放获取文章，该许可允许在任何媒体上使用和分发，前提是正确引用原始作品，非商业用途，不进行修改或改编。
Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic causes of OI and closely related disorders have been identified and it is expected that more will follow. Unlike most reviews that have been published in the last decade on the genetic causes and biochemical processes leading to OI, this review focuses on the clinical classification of OI and elaborates on the newly proposed OI classification from 2010, which returned to a descriptive and numerical grouping of five OI syndromic groups. The new OI nomenclature and the pre-and postnatal severity assessment introduced in this review, emphasize the importance of phenotyping in order to diagnose, classify, and assess severity of OI. This will provide patients and their families with insight into the probable course of the disorder and it will allow physicians to evaluate the effect of therapy. A careful clinical description in combination with knowledge of the specific molecular genetic cause is the starting point for development and assessment of therapy in patients with heritable disorders including OI. © 2014 The Authors. American Journal of Medical Genetics Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution–NonCommercial–NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
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发表时间：
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