{"title":"Bardet-Biedl Syndrome: Report of a Classical Case from North India.","authors":"Dhruv Kapoor, Shyam Chand Chaudhary, Akash Khandelwal, Chitranshu Pancholi, Shambhavi Sinha, Tarun Pal","doi":"10.4103/aam.aam_47_25","DOIUrl":null,"url":null,"abstract":"<p><strong>Abstract: </strong>Bardet-Biedl syndrome (BBS) is a genetic disorder affecting cilia and its functions and manifests floridly in late childhood as a multisystem disorder with the classical triad being polydactyly, atypical retinal dystrophy, and central obesity. So far, very few case reports have been reported from India and even fewer from North India. We are reporting a classic case of a 14-year-old boy presenting to the medicine outpatient department with features of lower respiratory tract infection, who, on work-up, was diagnosed as a case of BBS on clinical grounds. He underwent conservative treatment and, over the next 7 days of treatment with parenteral antibiotics and fluids, resumed in the state of normalcy. Obese children or adolescents with polydactyly must raise a suspicion in the minds of a physician and must warrant further investigations, so as to prognosticate the guardians well before complications set in.</p>","PeriodicalId":7938,"journal":{"name":"Annals of African Medicine","volume":" ","pages":""},"PeriodicalIF":0.6000,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of African Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/aam.aam_47_25","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
Abstract: Bardet-Biedl syndrome (BBS) is a genetic disorder affecting cilia and its functions and manifests floridly in late childhood as a multisystem disorder with the classical triad being polydactyly, atypical retinal dystrophy, and central obesity. So far, very few case reports have been reported from India and even fewer from North India. We are reporting a classic case of a 14-year-old boy presenting to the medicine outpatient department with features of lower respiratory tract infection, who, on work-up, was diagnosed as a case of BBS on clinical grounds. He underwent conservative treatment and, over the next 7 days of treatment with parenteral antibiotics and fluids, resumed in the state of normalcy. Obese children or adolescents with polydactyly must raise a suspicion in the minds of a physician and must warrant further investigations, so as to prognosticate the guardians well before complications set in.
期刊介绍：
The Annals of African Medicine is published by the Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria and the Annals of African Medicine Society. The Journal is intended to serve as a medium for the publication of research findings in the broad field of Medicine in Africa and other developing countries, and elsewhere which have relevance to Africa. It will serve as a source of information on the state of the art of Medicine in Africa, for continuing education for doctors in Africa and other developing countries, and also for the publication of meetings and conferences. The journal will publish articles I any field of Medicine and other fields which have relevance or implications for Medicine.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
