[Achondrogenesis。关于一个案例]。

Annales d'anatomie pathologique Pub Date : 1979-01-01
G Coulon, A Menget, G Pageaut
{"title":"[Achondrogenesis。关于一个案例]。","authors":"G Coulon,&nbsp;A Menget,&nbsp;G Pageaut","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>The authors report a new case of achondrogenesis, the study of which is principally directed towards the histopathological examination of the conjugal cartilage. A brief review of the literature recalls the main clinical, radiological and histopathological characteristics of this fatal chondrodysplasia transmitted by an autosomal recessive means. In addition to other features, it reveals the difficulty which may be experienced in differentiating between the two types (I and II). Finally, the differential diagnosis is briefly assessed, the problem being the elimination of other non-transmissible chondrodysplasias, in particular thanatophoric dwarfism, for the purpose of appropriate genetic counselling.</p>","PeriodicalId":75498,"journal":{"name":"Annales d'anatomie pathologique","volume":"24 4-5","pages":"313-23"},"PeriodicalIF":0.0000,"publicationDate":"1979-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Achondrogenesis. Apropos of a case].\",\"authors\":\"G Coulon,&nbsp;A Menget,&nbsp;G Pageaut\",\"doi\":\"\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The authors report a new case of achondrogenesis, the study of which is principally directed towards the histopathological examination of the conjugal cartilage. A brief review of the literature recalls the main clinical, radiological and histopathological characteristics of this fatal chondrodysplasia transmitted by an autosomal recessive means. In addition to other features, it reveals the difficulty which may be experienced in differentiating between the two types (I and II). Finally, the differential diagnosis is briefly assessed, the problem being the elimination of other non-transmissible chondrodysplasias, in particular thanatophoric dwarfism, for the purpose of appropriate genetic counselling.</p>\",\"PeriodicalId\":75498,\"journal\":{\"name\":\"Annales d'anatomie pathologique\",\"volume\":\"24 4-5\",\"pages\":\"313-23\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"1979-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annales d'anatomie pathologique\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annales d'anatomie pathologique","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

作者报告了一个新的软骨发育不全的情况下,其研究主要是针对对夫妻软骨的组织病理学检查。简要回顾文献回顾的主要临床,放射学和组织病理学特征,这种致命的软骨发育不良通过常染色体隐性手段传播。除了其他特征外,它还揭示了区分两种类型(I型和II型)可能遇到的困难。最后,简要评估了鉴别诊断,问题是消除其他非传染性软骨发育不良,特别是嗜死性侏儒症,以便进行适当的遗传咨询。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Achondrogenesis. Apropos of a case].

The authors report a new case of achondrogenesis, the study of which is principally directed towards the histopathological examination of the conjugal cartilage. A brief review of the literature recalls the main clinical, radiological and histopathological characteristics of this fatal chondrodysplasia transmitted by an autosomal recessive means. In addition to other features, it reveals the difficulty which may be experienced in differentiating between the two types (I and II). Finally, the differential diagnosis is briefly assessed, the problem being the elimination of other non-transmissible chondrodysplasias, in particular thanatophoric dwarfism, for the purpose of appropriate genetic counselling.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信