ReviewJournal of multidisciplinary healthcare2022
Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do.
Review in Journal of multidisciplinary healthcare, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Assessment of cardiometabolic risk using single point insulin sensitivity estimator (SPISE) in pediatric Bardet-Biedl Syndrome: a pilot study.Orphanet journal of rare diseases · 2026Article
- Primary cilia and BBS4 are required for postnatal pituitary development.Developmental biology · 2026Article
- Bardet-Biedl syndrome in two sibling pairs: a case series.Journal of medical case reports · 2026Article
- Clinical heterogeneity associated with Bardet-Biedl syndrome-related genes in presumed non-syndromic inherited retinal disease.Frontiers in cell and developmental biology · 2026Article
- [Ophthalmological care of patients with Bardet-Biedl syndrome].Die Ophthalmologie · 2026Article
- Bardet-Biedl syndrome in a Syrian adolescent: a rare case report.Annals of medicine and surgery (2012) · 2025Article
- Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.Orphanet journal of rare diseases · 2025Article
- 'In the dark': parents' lifelong commitment to supporting children with Bardet-Biedl syndrome.Health psychology and behavioral medicine · 2025Article
- Clinical features of a novel compound heterozygous genotype of theThe Journal of international medical research · 2024Article
- Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review.Children (Basel, Switzerland) · 2024Article
- Significant enhancement of swallowing function and oral hygiene following multidisciplinary team nursing in tongue cancer patients after radical resection.American journal of translational research · 2024Article
- The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers.International journal of medical sciences · 2024Article
- Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome.BMC medical genomics · 2023Article
- Organization, functions, and mechanisms of the BBSome in development, ciliopathies, and beyond.eLife · 2023Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bardet - Biedl syndrome is a rare autosomal recessive multisystem non-motile ciliopathy. It has heterogeneous clinical manifestations. It is caused by mutations in 26 genes encoding BBSome proteins, chaperonines, and IFT complex. The main clinical features are: retinal cone-rod dystrophy, central obesity, postaxial polydactyly, cognitive impairment, hypogonadism and genitourinary anomalies, and kidney disease. The onset of clinical manifestations is variable which makes the diagnosis difficult in some patients. Because of the multiple system involvement, a multidisciplinary approach is necessary. The purpose of this review is to provide monitoring and management directions for a better approach to these patients.
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