{"title":"成骨不全、Ehlers Danlos综合征、trap综合征和Stickler综合征合并为一名28岁的埃及女性的多重遗传性结缔组织疾病。","authors":"Hany El-Saadany, S. Negm","doi":"10.35841/biology-medicine.2.2.9-11","DOIUrl":null,"url":null,"abstract":"Collagen related diseases most commonly arise from genetic defects or nutritional deficiencies that affect the biosynthesis assembly posttranslational modification a secretion or other processes involved in normal collagen production. One thousand mutations have been identified in twelve out of more than twenty types of collagen. These mutations can lead to various diseases at the tissue level. This report describes an Egyptian female presented by multiple different polysystematic disorders proved to be manifestations of multiple rare inherited connective tissue disorders in the same patient to be the first woman worldwide to comprise all these rare syndromes up to our review.","PeriodicalId":90454,"journal":{"name":"Biology and medicine (Aligarh)","volume":"2 1","pages":"9-11"},"PeriodicalIF":0.0000,"publicationDate":"2018-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"Combination of Osteogenesis imperfecta, Ehlers Danlos syndrome, TRAPsyndrome, and Stickler syndrome as multiple inherited connective tissue disordersin a 28-year-old Egyptian woman.\",\"authors\":\"Hany El-Saadany, S. Negm\",\"doi\":\"10.35841/biology-medicine.2.2.9-11\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Collagen related diseases most commonly arise from genetic defects or nutritional deficiencies that affect the biosynthesis assembly posttranslational modification a secretion or other processes involved in normal collagen production. One thousand mutations have been identified in twelve out of more than twenty types of collagen. These mutations can lead to various diseases at the tissue level. This report describes an Egyptian female presented by multiple different polysystematic disorders proved to be manifestations of multiple rare inherited connective tissue disorders in the same patient to be the first woman worldwide to comprise all these rare syndromes up to our review.\",\"PeriodicalId\":90454,\"journal\":{\"name\":\"Biology and medicine (Aligarh)\",\"volume\":\"2 1\",\"pages\":\"9-11\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2018-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Biology and medicine (Aligarh)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.35841/biology-medicine.2.2.9-11\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Biology and medicine (Aligarh)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.35841/biology-medicine.2.2.9-11","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Combination of Osteogenesis imperfecta, Ehlers Danlos syndrome, TRAPsyndrome, and Stickler syndrome as multiple inherited connective tissue disordersin a 28-year-old Egyptian woman.
Collagen related diseases most commonly arise from genetic defects or nutritional deficiencies that affect the biosynthesis assembly posttranslational modification a secretion or other processes involved in normal collagen production. One thousand mutations have been identified in twelve out of more than twenty types of collagen. These mutations can lead to various diseases at the tissue level. This report describes an Egyptian female presented by multiple different polysystematic disorders proved to be manifestations of multiple rare inherited connective tissue disorders in the same patient to be the first woman worldwide to comprise all these rare syndromes up to our review.