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Optometry and Vision Science, 2000
This case report describes the presentation of a patient with Bardet-Biedl syndrome. Bardet-Biedl Syndrome is an autosomal recessive condition that includes retinal dystrophy, dystrophic extremities (commonly polydactyly), obesity, hypogenitalism, and renal disease. Cognitive deficit has also been considered part of the syndrome.
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This case report describes the presentation of a patient with Bardet-Biedl syndrome. Bardet-Biedl Syndrome is an autosomal recessive condition that includes retinal dystrophy, dystrophic extremities (commonly polydactyly), obesity, hypogenitalism, and renal disease. Cognitive deficit has also been considered part of the syndrome.
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2018
Bardet-Biedl syndrome (BBS) is a human genetic disorder characterized by defects in multiple organ systems. Major symptoms of BBS include retinitis pigmentosa, obesity, polydactyly, mental retardation, genital abnormalities, and renal abnormalities.
Jennifer J. Iyengar +2 more
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Bardet-Biedl syndrome (BBS) is a human genetic disorder characterized by defects in multiple organ systems. Major symptoms of BBS include retinitis pigmentosa, obesity, polydactyly, mental retardation, genital abnormalities, and renal abnormalities.
Jennifer J. Iyengar +2 more
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Ciliopathy: Bardet-Biedl Syndrome
2018Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). About two thirds of patients have postaxial polydactyly, and sometimes syndactyly, brachydactyly, and/or clinodactyly may be present.
Stephen H, Tsang +2 more
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Clinical features of Bardet‐Biedl syndrome
Pediatrics International, 1995AbstractSix patients with Bardet‐Biedl syndrome who have been followed in our clinics for the last 5 years are reported in this study. Of the five classic features of this syndrome; obesity and mental retardation were present in all cases, retinal disturbances were present in five, Polydactyly in three and hypogenitalism was observed in all four male ...
ÖZER G. +5 more
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1999
Herein reported are the systemic and ophthalmologic features of four patients with Bardet-Biedl syndrome (BBS) from a consanguineous pedigree. Molecular genetic analyses showed linkage with the BBS4 locus (chromosome 15), and excluded linkage to the other known loci on chromosome 3 (BBS3), 11 (BBS1), and 16 (BBS2), respectively.
Alessandro Iannaccone +5 more
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Herein reported are the systemic and ophthalmologic features of four patients with Bardet-Biedl syndrome (BBS) from a consanguineous pedigree. Molecular genetic analyses showed linkage with the BBS4 locus (chromosome 15), and excluded linkage to the other known loci on chromosome 3 (BBS3), 11 (BBS1), and 16 (BBS2), respectively.
Alessandro Iannaccone +5 more
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[Update on Bardet-Biedl syndrome].
Journal francais d'ophtalmologie, 2005Considéré jusqu’à présent comme un syndrome de transmission autosomique récessive classique, le syndrome de Bardet-Biedl (SBB) se définit cliniquement par l’association d’une rétinopathie pigmentaire, d’une polydactylie, d’une obésité, d’un hypogonadisme et d’un retard mental. La diversité des atteintes systémiques définissant ce syndrome est source de
Dollfus, Hélène +7 more
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Ciliopathy: Bardet-Biedl Syndrome
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000.Ahmet, Hondur +4 more
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