脊柱骨发育不良:罕见病例报告

Adit Sanjiv Kamodia, Saggana Sree Victory Senthilkumar, Neha Bagri
{"title":"脊柱骨发育不良:罕见病例报告","authors":"Adit Sanjiv Kamodia, Saggana Sree Victory Senthilkumar, Neha Bagri","doi":"10.25259/ijmsr_45_2023","DOIUrl":null,"url":null,"abstract":"Spondylocostal dysostosis (SCD), also known as Jarcho Levin syndrome, is a rare congenital dysostosis characterized by multiple congenital vertebral and rib anomalies. The child usually presents with respiratory distress at birth with eventual development of short trunk dwarfism. Associated congenital anomalies are rare; however, they need evaluation. We report a 6-month-old Indian girl with SCD who presented with respiratory distress and an asymmetrical small thoracic cavity. The diagnosis was made with radiographs, computed tomography scans, and magnetic resonance imaging (MRI) showing multiple rib and vertebral segmentation anomalies. We would also highlight the importance of MRI in these patients and illustrate other associated brain and spine anomalies.","PeriodicalId":483262,"journal":{"name":"Indian Journal of Musculoskeletal Radiology","volume":"9 3","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Spondylocostal dysostosis: A rare case report\",\"authors\":\"Adit Sanjiv Kamodia, Saggana Sree Victory Senthilkumar, Neha Bagri\",\"doi\":\"10.25259/ijmsr_45_2023\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Spondylocostal dysostosis (SCD), also known as Jarcho Levin syndrome, is a rare congenital dysostosis characterized by multiple congenital vertebral and rib anomalies. The child usually presents with respiratory distress at birth with eventual development of short trunk dwarfism. Associated congenital anomalies are rare; however, they need evaluation. We report a 6-month-old Indian girl with SCD who presented with respiratory distress and an asymmetrical small thoracic cavity. The diagnosis was made with radiographs, computed tomography scans, and magnetic resonance imaging (MRI) showing multiple rib and vertebral segmentation anomalies. We would also highlight the importance of MRI in these patients and illustrate other associated brain and spine anomalies.\",\"PeriodicalId\":483262,\"journal\":{\"name\":\"Indian Journal of Musculoskeletal Radiology\",\"volume\":\"9 3\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-12-21\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Indian Journal of Musculoskeletal Radiology\",\"FirstCategoryId\":\"0\",\"ListUrlMain\":\"https://doi.org/10.25259/ijmsr_45_2023\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Indian Journal of Musculoskeletal Radiology","FirstCategoryId":"0","ListUrlMain":"https://doi.org/10.25259/ijmsr_45_2023","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

脊柱骨发育不良症(Spondylocostal dysostosis,SCD)又称贾乔-莱文综合征(Jarcho Levin Syndrome),是一种罕见的先天性骨发育不良症,以多发性先天性脊椎和肋骨异常为特征。患儿出生时通常会出现呼吸窘迫,最终发展为短躯干侏儒症。伴发的先天性畸形很少见,但需要进行评估。我们报告了一名 6 个月大的印度 SCD 女婴,她出现呼吸窘迫和不对称的小胸腔。通过X光片、计算机断层扫描和核磁共振成像(MRI)显示多根肋骨和脊椎分节异常,最终确诊。我们还将强调核磁共振成像对这些患者的重要性,并说明其他相关的脑部和脊柱异常。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Spondylocostal dysostosis: A rare case report
Spondylocostal dysostosis (SCD), also known as Jarcho Levin syndrome, is a rare congenital dysostosis characterized by multiple congenital vertebral and rib anomalies. The child usually presents with respiratory distress at birth with eventual development of short trunk dwarfism. Associated congenital anomalies are rare; however, they need evaluation. We report a 6-month-old Indian girl with SCD who presented with respiratory distress and an asymmetrical small thoracic cavity. The diagnosis was made with radiographs, computed tomography scans, and magnetic resonance imaging (MRI) showing multiple rib and vertebral segmentation anomalies. We would also highlight the importance of MRI in these patients and illustrate other associated brain and spine anomalies.
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:604180095
Book学术官方微信