ArticleCaspian journal of internal medicine2022
Bardet-Biedl syndrome: The longer we miss, the worse is the outcome.
Article in Caspian journal of internal medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
2 citing papers in PubMed, 1 citations in OpenAlex.
- Ocular and Systemic Phenotyping of Bardet-Biedel Syndrome Type 7 (BBS7) in a Palestinian Male: Case Report and Literature Review.Case reports in ophthalmological medicine · 2026Article
- Congenital melanocytic nevi in Bardet-Biedl syndrome.Orphanet journal of rare diseases · 2025Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Bardet-Biedl syndrome (BBS) is characterized by obesity, cognitive abnormalities, rod-cone dystrophy, skeletal abnormalities, and many other secondary features. Case Presentation: We describe a 28-year-old man presented with postaxial polydactyly, retinitis pigmentosa, obesity, hypogonadism and learning difficulties. Renal insufficiency in form of acute kidney injury was the presenting feature and this explain the worse outcome. The diagnosis was delayed despite being classic. This delay in diagnosis leads to a lot of complications that worsen the patient's condition. Conclusion: The characteristics of BBS should be noted by doctors because an early diagnosis will result in a better outcome. The case was prone to numerous consequences due to the delay in diagnosis, which could have been avoided if an early diagnosis had been established.
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Registered trials
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