{"title":"日本家族性三甲综合征1例","authors":"N. Mitsukawa, Takashi Hayashi, K. Satoh","doi":"10.1097/WNQ.0000000000000131","DOIUrl":null,"url":null,"abstract":"Saethre-Chotzen syndrome is extremely rare in Japan. We experienced a familial case of Saethre-Chotzen syndrome in 4 individuals of 3 generations. In all 4 individuals, a mutation in the TWIST gene was observed by a gene test. Some of these patients underwent surgical correction of brachycephaly and blepharoptosis with good results.","PeriodicalId":56275,"journal":{"name":"Neurosurgery Quarterly","volume":"26 1","pages":"99-102"},"PeriodicalIF":0.0000,"publicationDate":"2016-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1097/WNQ.0000000000000131","citationCount":"0","resultStr":"{\"title\":\"A Familial Case of Saethre-Chotzen Syndrome in Japan\",\"authors\":\"N. Mitsukawa, Takashi Hayashi, K. Satoh\",\"doi\":\"10.1097/WNQ.0000000000000131\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Saethre-Chotzen syndrome is extremely rare in Japan. We experienced a familial case of Saethre-Chotzen syndrome in 4 individuals of 3 generations. In all 4 individuals, a mutation in the TWIST gene was observed by a gene test. Some of these patients underwent surgical correction of brachycephaly and blepharoptosis with good results.\",\"PeriodicalId\":56275,\"journal\":{\"name\":\"Neurosurgery Quarterly\",\"volume\":\"26 1\",\"pages\":\"99-102\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2016-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1097/WNQ.0000000000000131\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurosurgery Quarterly\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1097/WNQ.0000000000000131\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurosurgery Quarterly","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/WNQ.0000000000000131","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q","JCRName":"Medicine","Score":null,"Total":0}
A Familial Case of Saethre-Chotzen Syndrome in Japan
Saethre-Chotzen syndrome is extremely rare in Japan. We experienced a familial case of Saethre-Chotzen syndrome in 4 individuals of 3 generations. In all 4 individuals, a mutation in the TWIST gene was observed by a gene test. Some of these patients underwent surgical correction of brachycephaly and blepharoptosis with good results.
期刊介绍：
Neurosurgery Quarterly synthesizes the broad wealth of material on international developments in the diagnosis, management, and surgical treatment of neurological disorders. By encompassing viewpoints from worldwide sources, the journal provides information in greater depth than is usually found in the medical literature.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
