{"title":"安乐乡综合症。在一个印度裔南非家庭中报告了三例病例。","authors":"Y. Yacoob, Bill Pla, Patel","doi":"10.5580/17e2","DOIUrl":null,"url":null,"abstract":"Cockayne Syndrome (CS) is a multisystem photosensitive genetic disorder due to a defect in DNA repair. The hallmarks of Cockayne syndrome are postnatal growth failure and progressive neurological dysfunction. We describe three patients; A 23 year old female with psychomotor and growth retardation, difficulty with ambulation and impaired hearing and her 2 cousins; a 17 year old male and his 13 year old brother both referred with similar problems. The mothers of the patients are sisters and their fathers are brothers.","PeriodicalId":232166,"journal":{"name":"The Internet Journal of Neurology","volume":"35 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2009-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"Cockayne Syndrome. Report of three cases in a South African family of Indian origin.\",\"authors\":\"Y. Yacoob, Bill Pla, Patel\",\"doi\":\"10.5580/17e2\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Cockayne Syndrome (CS) is a multisystem photosensitive genetic disorder due to a defect in DNA repair. The hallmarks of Cockayne syndrome are postnatal growth failure and progressive neurological dysfunction. We describe three patients; A 23 year old female with psychomotor and growth retardation, difficulty with ambulation and impaired hearing and her 2 cousins; a 17 year old male and his 13 year old brother both referred with similar problems. The mothers of the patients are sisters and their fathers are brothers.\",\"PeriodicalId\":232166,\"journal\":{\"name\":\"The Internet Journal of Neurology\",\"volume\":\"35 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2009-12-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The Internet Journal of Neurology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5580/17e2\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Internet Journal of Neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5580/17e2","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Cockayne Syndrome. Report of three cases in a South African family of Indian origin.
Cockayne Syndrome (CS) is a multisystem photosensitive genetic disorder due to a defect in DNA repair. The hallmarks of Cockayne syndrome are postnatal growth failure and progressive neurological dysfunction. We describe three patients; A 23 year old female with psychomotor and growth retardation, difficulty with ambulation and impaired hearing and her 2 cousins; a 17 year old male and his 13 year old brother both referred with similar problems. The mothers of the patients are sisters and their fathers are brothers.