polydactyly/obesidade

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Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome.

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The prevalence of obesity in children is still rising all over the world. The most common reason for significant weight gain is a high-calorie diet and decreased physical activity. However, apart from environmental factors, genetic predisposition plays a crucial role in the pathomechanism of

[A case of familial Bardet-Biedl syndrome (obesity, slight mental retardation, polydactyly, retinitis pigmentosum and renal failure) with insulin-resistant diabetes mellitus].

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A case of familial Bardet-Biedl syndrome (BBS) in a 64-year-old woman is presented; it is characterized by abdominal obesity (BMI: 38.28; WHR: 0.98), slight mental retardation, polydactyly, pigmentary retinopathy and moderate renal failure, with insulin-resistant diabetes mellitus and severe

Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.

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BACKGROUND Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. METHODS SNP genotype data were used for linkage analysis and exome

ATYPICAL RETINITIS PIGMENTOSA ASSOCIATED WITH OBESITY, POLYDACTYLY, HYPOGENITALISM, AND MENTAL RETARDATION (THE LAURENCE-MOON-BIEDL SYNDROME) (Clinical and Genealogical Notes on a Case).

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Visual Diagnosis: Visual Impairment, Polydactyly, and Obesity: Red Flags in a Child.

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On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). 1920.

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Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly.

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The ciliopathies are an expanding group of disorders caused by mutations in genes implicated in the biogenesis and function of primary cilia. Bardet-Biedl syndrome (BBS) is a model ciliopathy characterized by progressive retinal degeneration, obesity, polydactyly, cognitive impairment, kidney

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.

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Rubinstein-Taybi syndrome (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability. RSTS is mainly caused by de novo variants in epigenetics-associated gene, CREBBP. To date, there is no cohort study of

Mental retardation, ptosis and polydactyly: a new autosomal recessive syndrome?

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Three affected sibs in a consanguineous family with short stature, mental retardation, downslanting palpebral fissures, ptosis and polydactyly are described. There was no hypogonadism or pigmentary retinopathy. They were thin in childhood and while two of the postpubertal sibs have a stocky build

A rare case of obesity. Can it be Bardet-Biedl Syndrome?

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Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder with a wide spectrum of clinical manifestations like retinal dystrophy, obesity, polydactyly, mental retardation, hypogonadism, and renal dysfunction. We report a case of 14-year-old obese boy with poor scholastic performances,

[Progress of research on the pathogenesis of obesity in Bardet-Biedl syndrome].

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Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disease characterized by retinopathy, obesity, and polydactyly. So far 21 candidate genes have been discovered, and mutations of such genes can all cause the BBS phenotype. As one of the main features of the disease, the obesity in BBS has

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

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Joubert syndrome (JS) is a genetically heterogeneous autosomal recessive ciliopathy with 22 genes implicated to date, including a small, ciliary GTPase, ARL13B. ARL13B is required for cilia formation in vertebrates. JS patients display multiple symptoms characterized by ataxia due to the cerebellar

Molecular basis of the obesity associated with Bardet-Biedl syndrome.

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Bardet-Biedl Syndrome (BBS) is a rare human hereditary disorder associated with several features including obesity, retinopathy, renal defects, polydactyly, learning disabilities and hypogenitalism. This article discusses the abnormalities accounting for energy imbalance leading to obesity in BBS,

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.

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Bardet-Biedl syndrome is a heterogeneous autosomal recessive disorder characterized by obesity, mental retardation, polydactyly, retinitis pigmentosa and hypogonadism. Patients with this disorder also have a high incidence of hypertension, diabetes mellitus, and renal and cardiovascular anomalies.

Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes.

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Biemond syndrome type 2 (BS2) is classically regarded as a recessively inherited condition (MIM 210350) comprising mental retardation, coloboma, obesity, polydactyly, hypogonadism, hydrocephalus, and facial dysostosis. Clinically, the disorder is closely related to Bardet-Biedl syndrome. Few cases

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