产前超声筛查先天性骨软骨发育不良的重要性-两例报告

Ivka Djaković, Vesna Gall, V. Saftić, P. Radulović, N. Bilić, V. Kosec
{"title":"产前超声筛查先天性骨软骨发育不良的重要性-两例报告","authors":"Ivka Djaković, Vesna Gall, V. Saftić, P. Radulović, N. Bilić, V. Kosec","doi":"10.33004/REUMATIZAM-66-1-5","DOIUrl":null,"url":null,"abstract":"Osteochondrodysplasias comprise a large, genetically heterogeneous group of disorders characterized by abnormalities of cartilage and bone growth. They are often associated with abnormalities in other organ systems. They are classified as lethal or non-lethal skeletal dysplasias. Thanatophoric dysplasia is the most common form of lethal skeletal dysplasia with an incidence of 0.69 per 10.000 births. Heterozygous achondroplasia is the most common non-lethal dysplasia with an incidence of 0.15 per 10.000 births. We will present two cases of skeletal dysplasia. The first case is the case of lethal osteochondrodysplasia in the fetus of a 41-year-old multiparous woman, who came to our hospital in active preterm labor, in the 33th week of uncontrolled pregnancy. The second case is the case of non-lethal osteochondrodysplasia in the fetus of a 31-year-old multiparous woman. The fetal short femur length was detected in the 30th","PeriodicalId":76426,"journal":{"name":"Reumatizam","volume":"1 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2019-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"THE IMPORTANCE OF ANTENATAL ULTRASOUND SCREENING FOR CONGENITAL OSTEOCHONDRODYSPLASIA – TWO CASE REPORTS\",\"authors\":\"Ivka Djaković, Vesna Gall, V. Saftić, P. Radulović, N. Bilić, V. Kosec\",\"doi\":\"10.33004/REUMATIZAM-66-1-5\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Osteochondrodysplasias comprise a large, genetically heterogeneous group of disorders characterized by abnormalities of cartilage and bone growth. They are often associated with abnormalities in other organ systems. They are classified as lethal or non-lethal skeletal dysplasias. Thanatophoric dysplasia is the most common form of lethal skeletal dysplasia with an incidence of 0.69 per 10.000 births. Heterozygous achondroplasia is the most common non-lethal dysplasia with an incidence of 0.15 per 10.000 births. We will present two cases of skeletal dysplasia. The first case is the case of lethal osteochondrodysplasia in the fetus of a 41-year-old multiparous woman, who came to our hospital in active preterm labor, in the 33th week of uncontrolled pregnancy. The second case is the case of non-lethal osteochondrodysplasia in the fetus of a 31-year-old multiparous woman. The fetal short femur length was detected in the 30th\",\"PeriodicalId\":76426,\"journal\":{\"name\":\"Reumatizam\",\"volume\":\"1 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Reumatizam\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.33004/REUMATIZAM-66-1-5\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Reumatizam","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.33004/REUMATIZAM-66-1-5","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

骨软骨发育不良是一种以软骨和骨骼生长异常为特征的遗传异质性疾病。它们通常与其他器官系统的异常有关。它们分为致命性和非致命性骨骼发育不良。嗜盐性发育不良是最常见的致命性骨骼发育不良,发病率为0.69 / 10000。杂合性软骨发育不全是最常见的非致死性发育不良,发病率为每1万名新生儿0.15例。我们将介绍两个骨骼发育不良的病例。第一个病例是一名41岁的多胎妇女,她在未控制的妊娠第33周主动早产时来到我院。第二个病例是一名31岁多胎妇女的胎儿非致死性骨软骨发育不良。第30天发现胎儿股骨短
本文章由计算机程序翻译,如有差异,请以英文原文为准。
THE IMPORTANCE OF ANTENATAL ULTRASOUND SCREENING FOR CONGENITAL OSTEOCHONDRODYSPLASIA – TWO CASE REPORTS
Osteochondrodysplasias comprise a large, genetically heterogeneous group of disorders characterized by abnormalities of cartilage and bone growth. They are often associated with abnormalities in other organ systems. They are classified as lethal or non-lethal skeletal dysplasias. Thanatophoric dysplasia is the most common form of lethal skeletal dysplasia with an incidence of 0.69 per 10.000 births. Heterozygous achondroplasia is the most common non-lethal dysplasia with an incidence of 0.15 per 10.000 births. We will present two cases of skeletal dysplasia. The first case is the case of lethal osteochondrodysplasia in the fetus of a 41-year-old multiparous woman, who came to our hospital in active preterm labor, in the 33th week of uncontrolled pregnancy. The second case is the case of non-lethal osteochondrodysplasia in the fetus of a 31-year-old multiparous woman. The fetal short femur length was detected in the 30th
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