ArticleAACE clinical case reports
A Beacon of Hope: Confronting Bardet-Biedl Syndrome in Pakistan's Health Care Frontier.
Article in AACE clinical case reports. 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
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed.
- Bardet-Biedl Syndrome Presenting With Acute Kidney Injury Revealing Previously Undiagnosed Advanced Chronic Kidney Disease in a Young Adult: A Case Report.Clinical case reports · 2026Article
- Bardet-Biedl syndrome in two sibling pairs: a case series.Journal of medical case reports · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background/Objective: This report presents a case of Bardet-Biedl Syndrome (BBS) in a 12-year-old boy from a nonconsanguineous Pakhtoon family in Peshawar, Pakistan, exploring its clinical complexity in a region with previously undocumented prevalence. First identified in the 19th century, BBS is a rare autosomal recessive disorder known for its variable symptomatology and genetic heterogeneity, primarily affecting children with a familial history of consanguinity. Case Report: The subject exhibited hallmark features including polydactyly, syndactyly, developmental delays, central obesity, retinitis pigmentosa, and newly diagnosed diabetes mellitus, diverging from typical consanguineous patterns observed in most BBS cases and reflecting the diverse clinical manifestations of the syndrome. Despite challenges in diagnosis and management, accentuated by limited regional healthcare resources, a comprehensive management plan was formulated, leading to controlled blood sugar levels. Discussion: This case emphasizes the need for increased awareness, improved diagnostic capabilities, and comprehensive management strategies in Pakistan to address the complexities of BBS effectively, particularly in settings with high consanguinity rates and specific cultural marital practices. Conclusion: This case underscores the importance of heightened clinical awareness and early recognition among healthcare providers, particularly in regions where cultural practices, such as consanguineous marriages, may predispose to genetic syndromes like BBS.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.