复发致死性胎儿综合征一例:梅克尔-格鲁伯综合征

Q4 Medicine Journal of SAFOG Pub Date : 2017-01-01 DOI:10.5005/JP-JOURNALS-10006-1495

R. Aggarwal, Syed Nawaz Ahmad, G. Radhakrishnan, A. Radhika, J. Malhotra

{"title":"复发致死性胎儿综合征一例:梅克尔-格鲁伯综合征","authors":"R. Aggarwal, Syed Nawaz Ahmad, G. Radhakrishnan, A. Radhika, J. Malhotra","doi":"10.5005/JP-JOURNALS-10006-1495","DOIUrl":null,"url":null,"abstract":"Meckel–Gruber syndrome (MGS), a rare lethal syndrome, is characterized phenotypically by polycystic kidneys, occipital encephalocele, and postaxial polydactyly. This entity with 100% fatality has autosomal recessive transmission with multiple gene loci. Mutation analysis is the confirmatory test to label a case as MGS. However, two of the three above-mentioned anomalies are sufficient to arrive at a working diagnosis of MGS. We report a case of MGS in a family with a history suggestive of multiple affected fetuses previously. Early diagnosis at 13 weeks gestation was made on antenatal ultrasound examination and the findings were confirmed on postabortal autopsy.","PeriodicalId":53559,"journal":{"name":"Journal of SAFOG","volume":"9 1","pages":"203-206"},"PeriodicalIF":0.0000,"publicationDate":"2017-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The Case of Recurrent Lethal Fetal Syndrome: Meckel–Gruber Syndrome\",\"authors\":\"R. Aggarwal, Syed Nawaz Ahmad, G. Radhakrishnan, A. Radhika, J. Malhotra\",\"doi\":\"10.5005/JP-JOURNALS-10006-1495\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Meckel–Gruber syndrome (MGS), a rare lethal syndrome, is characterized phenotypically by polycystic kidneys, occipital encephalocele, and postaxial polydactyly. This entity with 100% fatality has autosomal recessive transmission with multiple gene loci. Mutation analysis is the confirmatory test to label a case as MGS. However, two of the three above-mentioned anomalies are sufficient to arrive at a working diagnosis of MGS. We report a case of MGS in a family with a history suggestive of multiple affected fetuses previously. Early diagnosis at 13 weeks gestation was made on antenatal ultrasound examination and the findings were confirmed on postabortal autopsy.\",\"PeriodicalId\":53559,\"journal\":{\"name\":\"Journal of SAFOG\",\"volume\":\"9 1\",\"pages\":\"203-206\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2017-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of SAFOG\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5005/JP-JOURNALS-10006-1495\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of SAFOG","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5005/JP-JOURNALS-10006-1495","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}

引用次数: 0

摘要

梅克尔-格鲁伯综合征(MGS)是一种罕见的致死性综合征，其表型特征为多囊肾、枕部脑膨出和轴后多指畸形。这种病死率为100%的实体具有多基因位点的常染色体隐性遗传。突变分析是将病例标记为MGS的确证试验。然而，上述三种异常中的两种足以得出MGS的有效诊断。我们报告一例MGS在一个家庭的历史提示多胎以前。在妊娠13周通过产前超声检查进行早期诊断，并在胎儿尸检中得到证实。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

The Case of Recurrent Lethal Fetal Syndrome: Meckel–Gruber Syndrome

Meckel–Gruber syndrome (MGS), a rare lethal syndrome, is characterized phenotypically by polycystic kidneys, occipital encephalocele, and postaxial polydactyly. This entity with 100% fatality has autosomal recessive transmission with multiple gene loci. Mutation analysis is the confirmatory test to label a case as MGS. However, two of the three above-mentioned anomalies are sufficient to arrive at a working diagnosis of MGS. We report a case of MGS in a family with a history suggestive of multiple affected fetuses previously. Early diagnosis at 13 weeks gestation was made on antenatal ultrasound examination and the findings were confirmed on postabortal autopsy.

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

Journal of SAFOG Medicine-Obstetrics and Gynecology

CiteScore

0.40

自引率

0.00%

发文量

135

期刊介绍： Journal of South Asian Federation of Obstetrics and Gynaecology is the aim of this journal to provide platform for members to have access to scientific and peer-reviewed clinically oriented guidelines for practice and professional updating of subject of obstetrics and gynecology. The scope of South Asian Federation of Obstetrics and Gynaecology (SAFOG) journal is to cover the broad subject of obstetrics and gynecology and give out articles, information, and practice guidelines. The journal has fixed format of review articles, presentations as original studies by members and readers, operative skill reviews, case reports, and midwifery peer-reviewed practice guidelines. In addition, call upon experts and clinical authorities among member countries of SAFOG region to give out editorials on policy formulating topics such as maternal mortality, abortions, contraceptives, reproductive health preservation of women, etc. As well as to tabulate reproductive health country specific data to create awareness regarding the enormity of maternal and neonatal problems. To give out reader specific information for forthcoming professional events in the region. It remains a platform for better communication and exchange of reproductive indices among member countries. Also to amalgamate with world bodies, recommendations for practice guidelines for members. Brief of the journal: The SAFOG journal is the official organ and publication of South Asia Federation of Obstetrics and Gynecology. This is a scientific and peer-reviewed platform of exchange of professional activities, clinical practice guidelines, operative skill updates, and nursing midwifery practices among member countries.