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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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Philippine Academy of Ophthalmology
2004-06-01
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| Series: | Philippine Journal of Ophthalmology |
| Subjects: | |
| Online Access: | https://paojournal.com/index.php/pjo/article/view/467 |
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| Summary: | 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. |
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| ISSN: | 0031-7659 |