A Zaizi, I Zizi, J Boukhris, D Benchebba, B Chafry, M Boussouga
{"title":"结核病：罕见病例报告","authors":"A Zaizi, I Zizi, J Boukhris, D Benchebba, B Chafry, M Boussouga","doi":"10.30574/wjbphs.2024.17.3.0105","DOIUrl":null,"url":null,"abstract":"Pycnodysostosis is a rare genetic disorder characterized by dense but brittle bones, short stature, and dental anomalies. This review summarizes the clinical presentation, genetic basis, diagnostic methods, and management strategies for pycnodysostosis. Early recognition and multidisciplinary care are crucial for optimizing outcomes and improving the quality of life for affected individuals. Further research into the pathophysiology of pycnodysostosis may lead to novel therapeutic approaches. We report a case of pycnodysostosis in a 23-year-old male sustaining a low energy right femoral shaft fracture.","PeriodicalId":23738,"journal":{"name":"World Journal of Biology Pharmacy and Health Sciences","volume":"7 4","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Pycnodysostosis: A rare case report\",\"authors\":\"A Zaizi, I Zizi, J Boukhris, D Benchebba, B Chafry, M Boussouga\",\"doi\":\"10.30574/wjbphs.2024.17.3.0105\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Pycnodysostosis is a rare genetic disorder characterized by dense but brittle bones, short stature, and dental anomalies. This review summarizes the clinical presentation, genetic basis, diagnostic methods, and management strategies for pycnodysostosis. Early recognition and multidisciplinary care are crucial for optimizing outcomes and improving the quality of life for affected individuals. Further research into the pathophysiology of pycnodysostosis may lead to novel therapeutic approaches. We report a case of pycnodysostosis in a 23-year-old male sustaining a low energy right femoral shaft fracture.\",\"PeriodicalId\":23738,\"journal\":{\"name\":\"World Journal of Biology Pharmacy and Health Sciences\",\"volume\":\"7 4\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-03-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"World Journal of Biology Pharmacy and Health Sciences\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.30574/wjbphs.2024.17.3.0105\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"World Journal of Biology Pharmacy and Health Sciences","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.30574/wjbphs.2024.17.3.0105","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Pycnodysostosis is a rare genetic disorder characterized by dense but brittle bones, short stature, and dental anomalies. This review summarizes the clinical presentation, genetic basis, diagnostic methods, and management strategies for pycnodysostosis. Early recognition and multidisciplinary care are crucial for optimizing outcomes and improving the quality of life for affected individuals. Further research into the pathophysiology of pycnodysostosis may lead to novel therapeutic approaches. We report a case of pycnodysostosis in a 23-year-old male sustaining a low energy right femoral shaft fracture.
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