Results 11 to 20 of about 7,409 (168)
Laurence-Moon-Bardet-Biedl Syndrome
Journal of Nepal Medical Association, 2008 Laurence-Moon-Bardet-Biedl syndrome is a rare, genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression.
JK Sahu, Vandana Jain
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A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome [PDF]
Case Reports in Ophthalmology, 2015 Bardet-Biedl syndrome is a continuum of disorders characterized by systemic and ocular findings. Retinal abnormalities typically present as diffuse photoreceptor degeneration.
Cynthia S. Chiu +3 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
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Report of four cases of Bardet-Biedl syndrome
Brazilian Journal of Nephrology, 2014 Bardet-Biedl syndrome is rare. Although its diagnosis depends on cardinal clinical manifestations which appear in childhood, we report four cases of Bardet-Biedl syndrome lately diagnosed in a dialysis center.
Paulo Roberto Santos +3 more
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A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome
Biomédica: revista del Instituto Nacional de Salud, 2018 The Bardet-Biedl syndrome is an autosomal recessive hereditary disorder with vast locus heterogeneity that belongs to the so-called ciliopathies, whose proteins are localized in the primary cilia and present functional deficiency.
Luz Yaqueline Ladino +4 more
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BARDET-BIEDL SYNDROME – CASE PRESENTATION [PDF]
Romanian Journal of Pediatrics, 2015 Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight ...
Sorin Ioan Iurian +3 more
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Managing Bardet–Biedl Syndrome—Now and in the Future [PDF]
Frontiers in Pediatrics, 2018 Bardet–Biedl syndrome is a rare autosomal recessive multisystem disorder caused by defects in genes encoding for proteins that localize to the primary cilium/basal body complex. Twenty-one disease-causing genes have been identified to date.
Elizabeth Forsythe +3 more
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Early diagnosis of Bardet-Biedl syndrome associated with obesity
Ожирение и метаболизм, 2008 One of the urgent problems of modern health care is the increase in the prevalence of obesity among children and adolescents. Late diagnosis and delayed initiation of treatment lead to serious complications such as hypertension, type 2 diabetes mellitus.
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Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report
Journal of Medical Case Reports, 2011 Background Bardet-Biedl syndrome is a significant genetic cause of chronic kidney disease in children. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome, but the onset of end-stage renal disease at an early age ...
Marshall Jan D +2 more
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Prenatal diagnosis of Bardet Biedl Syndrome: A case report
Radiology Case Reports, 2023 The Bardet-Biedl Syndrome (BBS), also called Laurence-Moon-Bardet-Biedl syndrome is a rare ciliopathic autosomal recessive genetic defect. BBS phenotype develops over the years and diagnosis is usually made in late childhood or early adulthood.
Ena Arora, MD +3 more
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