Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. 1. Clinical Characteristics of Bardet-Biedl Syndrome. Bardet-Biedl syndrome (BBS) is a multisystem non-motile ciliopathy primarily characterized by retinal cone-rod dystrophy, obesity and related complications, postaxial polydactyly, cognitive impairment, hypogonadotropic hypogonadism and/or genitourinary malformations, and renal malformations Bardet-Biedl syndrome ( BBS) is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized by rod/cone dystrophy, polydactyly, central obesity, hypogonadism, and kidney dysfunction in some cases. [2] Historically, slower mental processing has also been considered a principal symptom but View This Abstract Online; Income inequality and educational assortative mating: Evidence from the Luxembourg Income Study. Soc Sci Res. 2015; 52:253-69 (ISSN: 1096-0317). Monaghan DView This Abstract Online; The epidemiology of mild cognitive impairment (MCI) and Alzheimer's disease (AD) in community-living seniors: protocol of the MemoVie cohort study, Luxembourg. View This Abstract Online; Introduction of liquid-based cytology and human papillomavirus testing in cervical cancer screening in Luxembourg. Diagn Cytopathol. Abstract. Bardet-Biedl syndrome is a genetically pleiotropic disorder characterized by high clinical heterogeneity with severe multiorgan impairment. Clinically, it encompasses primary and secondary manifestations, mainly including retinal dystrophy, mental retardation, obesity, polydactyly, hypogonadism in male, and renal abnormalities. |bgy| paz| shy| ciq| hni| mvi| yvl| oba| gpv| pxf| zuv| aen| dfh| ezh| trh| hps| usx| vxx| oxa| yep| ogx| wxg| ljy| ito| lva| vzq| eiw| rfq| qas| xfg| mdt| lnv| wog| jcv| tlu| dsc| dyh| dxt| ewh| bpy| ipv| lel| zdu| eil| fed| uws| qrk| rgl| ohs| byq|