Results 81 to 90 of about 7,409 (168)
Visual acuity and retinal function in patients with Bardet-Biedl syndrome
Clinics, 2012 OBJECTIVE: Bardet-Biedl syndrome is a genetic, multisystem disorder that causes severe visual impairment. This condition is characterized by retinal dystrophy, obesity, digit anomalies, renal disease, and hypogonadism.
Adriana Berezovsky +5 more
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Anesthetic Management of a Pediatric Patient With Bardet-Biedl Syndrome: A Case Report
, 2019 Bardet-Biedl syndrome is a rare autosomal recessive genetic disorder that affects many organ systems. In cases of Bardet-Biedl syndrome, since the risk of developing inspiratory, cardiovascular, and metabolic problems is high, endotracheal intubation and
Tuba Gencol +5 more
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Sixth Cardinal Feature of Bardet-Biedl Syndrome in a Child: Cystic Kidney Disease - Case Report
Endocrinology Research and Practice, 2005 The cardinal manifestations of Bardet–Biedl Syndrome are described to include retinal dystrophy, obesity, polydactyly or dysmorphic extremities, mental retardation, and hypogonadism which especially affects boys. Renal involvement has been described as a
Özgür Pirgon +2 more
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THE LAURENCE-MOON-BIEDL-BARDET SYNDROME
, 1970 1. Three cases of the Laurence-Moon-Biedl-Bardet syndrome occurring in a Yemenite family are presented. The parents were first cousins. 2. In two of the patients the complete syndrome, which comprises retinitis pigmentosa, polydactyly, obesity, genital
A. Fried, M. Lotem, M. Levy
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Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management
Indian Journal of Ophthalmology, 2016 Primary cilia play a key role in sensory perception and various signaling pathways. Any defect in them leads to group of disorders called ciliopathies, and Bardet–Biedl syndrome (BBS, OMIM 209900) is one among them.
Sathya Priya +3 more
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Case report of twins with Bardet-Biedl syndrome exhibiting a rare mutation in the TTC8 gene
Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disorder, resulting from mutations in various genes, including TTC8. Abnormal variants in this gene were found in the case of our patients – twin sisters diagnosed with BBS.
Makowska, Joanna +17 more
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, 2002 McKusick-Kaufman syndrome comprises hydrometrocolpos, polydactyly, and congenital heart defects and overlaps with Bardet-Biedl syndrome, comprising retinitis pigmentosa, polydactyly, obesity, mental retardation, and renal and genital anomalies.
Slavotinek, A. +15 more
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Bardet-Biedl syndrome: a multisystem disorder with rare dermatological manifestations
Journal of the Pakistan Medical AssociationBardet-Biedl syndrome (BBS) is a disorder of primary ciliary dysfunction, having a wide range of systemic and dermatological manifestations. We report the case of a nine-year-old patient having multiple erythematous plaques over the dorsal surface of ...
Ghafoor Ullah +5 more
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Vaginal atresia and Bardet-Biedl syndrome association: A component or a distinct entity?
, 1999 Bardet-Biedl syndrome is an autosomal recessive disorder. It is characterized by cardinal anomalies including retinal dystrophy, digital malformations, mental retardation, obesity, and hypogonadism.
Oguzkurt, P +2 more
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Ciliary signaling proteins are mislocalized in the brains of Bardet-Biedl syndrome 1-null mice.
, 2022 In the brain, primary cilia are found on most, if not all, central neurons. The importance of neuronal cilia is underscored by the fact that human diseases caused by primary cilia dysfunction, which are known as ciliopathies, are associated with ...
Besse, Jason +3 more
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