Atypical Retinitis Pigmentosa With Systemic Features in Bardet–Biedl Syndrome [PDF]
Clinical Case ReportsRecognition of systemic features such as polydactyly in a patient with retinitis pigmentosa is crucial for early diagnosis of Bardet–Biedl syndrome. Mild non‐pitting swelling of the hands—an incidental, non‐classical finding—was also noted, emphasizing ...
Muhammad Umar Ahsan +2 more
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EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome [PDF]
BMC Pediatrics, 2013 BackgroundWolfram, Alström and Bardet-Biedl (WABB) syndromes are rare diseases with overlapping features of multiple sensory and metabolic impairments, including diabetes mellitus, which have caused diagnostic confusion.
A. Farmer +13 more
semanticscholar +2 more sources
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion [PDF]
npj Genomic Medicine, 2018 Bardet–Biedl syndrome (BBS) is a recessive disorder characterized by heterogeneous clinical manifestations, including truncal obesity, rod-cone dystrophy, renal anomalies, postaxial polydactyly, and variable developmental delays.
Jennifer Reiner +12 more
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Day Care General Anaesthesia for a Child with Bardet-Biedl Syndrome [PDF]
Case Reports in Medicine, 2010 Bardet-Biedl syndrome is a very rare autosomal-recessive disorder with pan-systemic effects. The perioperative period may be hazardous for patients with this disorder.
Suresh Chittoodan, Suzanne Crowe
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Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report [PDF]
Journal of Medical Case ReportsBackground Bardet–Biedl syndrome is a rare autosomal recessive disease occurring due to a ciliopathic genetic defect. It is caused by mutations in genes encoding proteins vital for the BBSome complex.
Adithya Andanappa +9 more
doaj +2 more sources
A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family [PDF]
Genetics and Molecular BiologyBardet-Biedl syndrome (BBS) is a rare ciliopathic disorder that segregates in an autosomal recessive manner. Genetic studies have so far identified 26 BBS-associated genes worldwide.
Sana Fatima +13 more
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Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study [PDF]
Orphanet Journal of Rare Diseases, 2023 Background Bardet-Biedl syndrome (BBS) is a rare, genetically heterogeneous obesity syndrome associated with hyperphagia. Given the early onset of BBS symptoms in childhood and multifaceted complications, this study aimed to quantify the caregiver burden
Elizabeth Forsythe +8 more
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Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations [PDF]
European Journal of Human GeneticsFour European Reference Networks (ERN-EYE, ERKNet, Endo-ERN, ERN-ITHACA) have teamed up to establish a consensus statement and recommendations for Bardet-Biedl syndrome (BBS).
Hélène Dollfus +26 more
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Bangabandhu Sheikh Mujib Medical University Journal, 2016 The Bardet-Biedl syndrome is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. It presents with varied clinical manifestations like retinitis pigmentosa, polydactyly, central obesity, mental ...
Mujammel Haque +3 more
doaj +4 more sources
The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers. [PDF]
Int J Med SciIntroduction: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical features of retinal dystrophy, obesity, postaxial polydactyly, renal anomalies, learning disabilities, hypogonadism, and genitourinary abnormalities ...
Li MH +7 more
europepmc +2 more sources