Manifestations of Bardet-Biedl syndrome
Objective: To report the first documented case of Bardet-Biedl syndrome at the University of the Philippines Philippine General Hospital. Methods: This is a case report. Results: A 7-year-old boy was diagnosed to have Bardet-Biedl syndrome based on the presence of five of the six primary manif...
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| Format: | Article |
| Language: | English |
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Philippine Academy of Ophthalmology
2004-06-01
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| Series: | Philippine Journal of Ophthalmology |
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| Online Access: | https://paojournal.com/index.php/pjo/article/view/467 |
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| author | Kristine T. Lo, MD Juancho Remulla, MD Alvina Pauline Santiago, MD |
| author_facet | Kristine T. Lo, MD Juancho Remulla, MD Alvina Pauline Santiago, MD |
| author_sort | Kristine T. Lo, MD |
| collection | DOAJ |
| description | Objective: To report the first documented case of Bardet-Biedl syndrome at the University of the Philippines Philippine General Hospital.
Methods: This is a case report.
Results: A 7-year-old boy was diagnosed to have Bardet-Biedl syndrome based on the presence of five of the six primary manifestations of the disease: retinitis pigmentosa, obesity, postaxial polydactyly, learning disabilities, hypogenitalism, and renal dysfunction.
Conclusion: Bardet-Biedl has ocular and systemic manifestations requiring a multi-disciplinary approach to treatment. |
| format | Article |
| id | doaj-art-02fa6d1e06324c87bc81bd58105cfa9e |
| institution | Kabale University |
| issn | 0031-7659 |
| language | English |
| publishDate | 2004-06-01 |
| publisher | Philippine Academy of Ophthalmology |
| record_format | Article |
| series | Philippine Journal of Ophthalmology |
| spelling | doaj-art-02fa6d1e06324c87bc81bd58105cfa9e2025-08-20T03:44:27ZengPhilippine Academy of OphthalmologyPhilippine Journal of Ophthalmology0031-76592004-06-012929498467Manifestations of Bardet-Biedl syndromeKristine T. Lo, MD0Juancho Remulla, MD1Alvina Pauline Santiago, MD2Department of Ophthalmology and Visual Sciences University of the Philippines Philippine General Hospital Manila, PhilippinesDepartment of Ophthalmology and Visual Sciences University of the Philippines Philippine General Hospital Manila, PhilippinesDepartment of Ophthalmology and Visual Sciences University of the Philippines Philippine General Hospital Manila, PhilippinesObjective: To report the first documented case of Bardet-Biedl syndrome at the University of the Philippines Philippine General Hospital. Methods: This is a case report. Results: A 7-year-old boy was diagnosed to have Bardet-Biedl syndrome based on the presence of five of the six primary manifestations of the disease: retinitis pigmentosa, obesity, postaxial polydactyly, learning disabilities, hypogenitalism, and renal dysfunction. Conclusion: Bardet-Biedl has ocular and systemic manifestations requiring a multi-disciplinary approach to treatment.https://paojournal.com/index.php/pjo/article/view/467bardet-biedl syndromeretinitis pigmentosapolydactylyhypogenitalism |
| spellingShingle | Kristine T. Lo, MD Juancho Remulla, MD Alvina Pauline Santiago, MD Manifestations of Bardet-Biedl syndrome Philippine Journal of Ophthalmology bardet-biedl syndrome retinitis pigmentosa polydactyly hypogenitalism |
| title | Manifestations of Bardet-Biedl syndrome |
| title_full | Manifestations of Bardet-Biedl syndrome |
| title_fullStr | Manifestations of Bardet-Biedl syndrome |
| title_full_unstemmed | Manifestations of Bardet-Biedl syndrome |
| title_short | Manifestations of Bardet-Biedl syndrome |
| title_sort | manifestations of bardet biedl syndrome |
| topic | bardet-biedl syndrome retinitis pigmentosa polydactyly hypogenitalism |
| url | https://paojournal.com/index.php/pjo/article/view/467 |
| work_keys_str_mv | AT kristinetlomd manifestationsofbardetbiedlsyndrome AT juanchoremullamd manifestationsofbardetbiedlsyndrome AT alvinapaulinesantiagomd manifestationsofbardetbiedlsyndrome |