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| bardet-biedl [2025/06/04 18:21] – [Resources] Scott Larson | bardet-biedl [2025/11/02 23:37] (current) – Scott Larson |
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| ====Main Features==== | ====Main Features==== |
| * Dysfunction of Brain, eye, kidneys and genitalia | * Dysfunction of Brain, eye, kidneys and genitalia |
| | * [[ciliopathies|Ciliopathy]] |
| ====Eye Findings==== | ====Eye Findings==== |
| * Retinal degeneration (almost 100%) | * Retinal degeneration (almost 100%) |
| * Hypogonadism and Genitourinary abnormalities | * Hypogonadism and Genitourinary abnormalities |
| * Cardiac defects | * Cardiac defects |
| | <WRAP round box> |
| {{ ::bardet-biedl_syndrome_diagnostic_features.png?800 |}} | {{ ::bardet-biedl_syndrome_diagnostic_features.png?800 |}} |
| From resource 1 below | From resource [1] below |
| | </WRAP> |
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| ====Etiology==== | ====Etiology==== |
| ====Resources==== | ====Resources==== |
| - [[ https://www.dovepress.com/bardet-biedl-syndrome-current-perspectives-and-clinical-outlook-peer-reviewed-fulltext-article-TCRM|Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook. Melluso A et al. Therapeutics and Clinical Risk Management. 2023;19:115-132]] [[https://1drv.ms/b/c/31d83ae8e55e0542/EXfXe34FRcNGntsod7XOiYABm30Xp5UHpwLQy6rkNiCbMg?e=iSH8sS |-]] | - [[ https://www.dovepress.com/bardet-biedl-syndrome-current-perspectives-and-clinical-outlook-peer-reviewed-fulltext-article-TCRM|Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook. Melluso A et al. Therapeutics and Clinical Risk Management. 2023;19:115-132]] [[https://1drv.ms/b/c/31d83ae8e55e0542/EXfXe34FRcNGntsod7XOiYABm30Xp5UHpwLQy6rkNiCbMg?e=iSH8sS |-]] |
| - [[https://pubmed.ncbi.nlm.nih.gov/25170860/ |Evaluation of Visual Function and Needs in Adult Patients with Bardet-Biedl Syndrome. Denniston AK et al. Retina 2014;34:2282-2289]] | - [[https://pubmed.ncbi.nlm.nih.gov/25170860/ |Evaluation of Visual Function and Needs in Adult Patients with Bardet-Biedl Syndrome. Denniston AK et al. Retina 2014;34:2282-2289]] [[https://1drv.ms/b/c/31d83ae8e55e0542/EdXrpV6MFu9Ar_MXVbCbGu0BtxvjXfyqDIRYd4yt_QUt1w?e=MujaFj|-]] |
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| {{tag>syndrome}} | {{tag>syndrome}} |
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