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Bardet–Biedl Syndrome in an Ethiopian
Bardet–Biedl syndrome (BBS) is a rare familial and multi-system disorder with an autosomal recessive pattern of inheritance and wide range of clinical variability. Its main manifestations are progressive retinal dystrophy, renal dysfunction, post-axial polydactyly, central obesity, mental retardatio...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989368/ https://www.ncbi.nlm.nih.gov/pubmed/33776488 http://dx.doi.org/10.2147/IMCRJ.S299421 |
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author | Tsegaw, Asamere Teshome, Tiliksew |
author_facet | Tsegaw, Asamere Teshome, Tiliksew |
author_sort | Tsegaw, Asamere |
collection | PubMed |
description | Bardet–Biedl syndrome (BBS) is a rare familial and multi-system disorder with an autosomal recessive pattern of inheritance and wide range of clinical variability. Its main manifestations are progressive retinal dystrophy, renal dysfunction, post-axial polydactyly, central obesity, mental retardation, and hypogonadism. Renal failure is known to be the main cause of death in patients with BBS. Retinal dystrophy and other eye diseases seen in patients with BBS can cause severe visual impairment and blindness at an early age. After written consent was obtained from the patient, we report the clinical and laboratory data of the first case from Ethiopia of an 18-year-old boy with multi-system manifestations of the Bardet–Biedl Syndrome. We discuss the main clinical manifestations of the syndrome including its potentially blinding and fatal features. We emphasize the need for diagnosis of this syndrome at an early age as possible so that proper and multidisciplinary medical care can be given for such patients to prevent unnecessary morbidity and early mortality. |
format | Online Article Text |
id | pubmed-7989368 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Dove |
record_format | MEDLINE/PubMed |
spelling | pubmed-79893682021-03-25 Bardet–Biedl Syndrome in an Ethiopian Tsegaw, Asamere Teshome, Tiliksew Int Med Case Rep J Case Report Bardet–Biedl syndrome (BBS) is a rare familial and multi-system disorder with an autosomal recessive pattern of inheritance and wide range of clinical variability. Its main manifestations are progressive retinal dystrophy, renal dysfunction, post-axial polydactyly, central obesity, mental retardation, and hypogonadism. Renal failure is known to be the main cause of death in patients with BBS. Retinal dystrophy and other eye diseases seen in patients with BBS can cause severe visual impairment and blindness at an early age. After written consent was obtained from the patient, we report the clinical and laboratory data of the first case from Ethiopia of an 18-year-old boy with multi-system manifestations of the Bardet–Biedl Syndrome. We discuss the main clinical manifestations of the syndrome including its potentially blinding and fatal features. We emphasize the need for diagnosis of this syndrome at an early age as possible so that proper and multidisciplinary medical care can be given for such patients to prevent unnecessary morbidity and early mortality. Dove 2021-03-19 /pmc/articles/PMC7989368/ /pubmed/33776488 http://dx.doi.org/10.2147/IMCRJ.S299421 Text en © 2021 Tsegaw and Teshome. http://creativecommons.org/licenses/by-nc/3.0/ This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php). |
spellingShingle | Case Report Tsegaw, Asamere Teshome, Tiliksew Bardet–Biedl Syndrome in an Ethiopian |
title | Bardet–Biedl Syndrome in an Ethiopian |
title_full | Bardet–Biedl Syndrome in an Ethiopian |
title_fullStr | Bardet–Biedl Syndrome in an Ethiopian |
title_full_unstemmed | Bardet–Biedl Syndrome in an Ethiopian |
title_short | Bardet–Biedl Syndrome in an Ethiopian |
title_sort | bardet–biedl syndrome in an ethiopian |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989368/ https://www.ncbi.nlm.nih.gov/pubmed/33776488 http://dx.doi.org/10.2147/IMCRJ.S299421 |
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