{"title":"产前诊断颅骨裂隙发育不良：一则病例报告凸显了探查超声波不明显体征的重要性","authors":"Prasanna Roy, Shankar Dey","doi":"10.1055/s-0044-1786169","DOIUrl":null,"url":null,"abstract":"Cleidocranial dysplasia is a rare autosomal dominant skeletal disorder characterized by clavicular hypoplasia, delayed closure of fontanels, dental abnormalities, and other skeletal anomalies. This case report presents the prenatal detection of cleidocranial dysplasia by exploring a subtle abnormality during routine prenatal ultrasound examination, subsequent genetic confirmation, and postabortal X-ray analysis. The aim is to emphasize the importance of taking into account any apparently insignificant ultrasound finding to diagnose a fetal genetic abnormality.","PeriodicalId":42412,"journal":{"name":"Journal of Fetal Medicine","volume":null,"pages":null},"PeriodicalIF":0.1000,"publicationDate":"2024-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Prenatal Detection of Cleidocranial Dysplasia: A Case Report Highlighting the Importance of Exploring Insignificant Ultrasound Signs\",\"authors\":\"Prasanna Roy, Shankar Dey\",\"doi\":\"10.1055/s-0044-1786169\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Cleidocranial dysplasia is a rare autosomal dominant skeletal disorder characterized by clavicular hypoplasia, delayed closure of fontanels, dental abnormalities, and other skeletal anomalies. This case report presents the prenatal detection of cleidocranial dysplasia by exploring a subtle abnormality during routine prenatal ultrasound examination, subsequent genetic confirmation, and postabortal X-ray analysis. The aim is to emphasize the importance of taking into account any apparently insignificant ultrasound finding to diagnose a fetal genetic abnormality.\",\"PeriodicalId\":42412,\"journal\":{\"name\":\"Journal of Fetal Medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.1000,\"publicationDate\":\"2024-04-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Fetal Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0044-1786169\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Fetal Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0044-1786169","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
颅裂发育不良是一种罕见的常染色体显性骨骼疾病，以锁骨发育不良、囟门闭合延迟、牙齿畸形和其他骨骼异常为特征。本病例报告通过产前常规超声波检查、基因确认和死后 X 光分析，发现了一个微小的异常，从而在产前检测出裂颅发育不良。目的是强调在诊断胎儿基因异常时，考虑任何表面上不明显的超声波发现的重要性。
Prenatal Detection of Cleidocranial Dysplasia: A Case Report Highlighting the Importance of Exploring Insignificant Ultrasound Signs
Cleidocranial dysplasia is a rare autosomal dominant skeletal disorder characterized by clavicular hypoplasia, delayed closure of fontanels, dental abnormalities, and other skeletal anomalies. This case report presents the prenatal detection of cleidocranial dysplasia by exploring a subtle abnormality during routine prenatal ultrasound examination, subsequent genetic confirmation, and postabortal X-ray analysis. The aim is to emphasize the importance of taking into account any apparently insignificant ultrasound finding to diagnose a fetal genetic abnormality.
期刊介绍：
Journal of Fetal Medicine is the official journal of the Society of Fetal Medicine affiliated with International Society of Ultrasound in Obstetrics & Gynecology. This is a peer-reviewed international journal featuring articles with special interest to fetal medicine specialists, geneticists and ulstrasonologists. The aim of the journal is to communicate the results of original research in the field of fetal medicine. It includes a variety of articles suitable for clinicians and scientific specialists concerned with diagnosis and therapy of fetal disorders. All articles on health promotion of the fetus are acceptable for publication. The major focus is on highlighting the work that has been carried out in India and other developing countries. It also includes articles written by experts from the West. Types of articles published: - Original research articles related to fetal care and basic research - Review articles - Consensus guidelines for diagnosis and treatment - Case reports - Images in Fetal Medicine - Brief communications
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