1997
DOI: 10.1136/bjo.81.5.378
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Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

Abstract: Aims-To describe the variation of the phenotype within families with several individuals with Bardet-Biedl syndrome. Methods-The phenotypes of aVected siblings in 11 Scandinavian families were compared with two or more members who had at least three of the features: retinal dystrophy, polydactyly, obesity, hypogenitalism, and mental retardation. Individuals without retinal dystrophy were excluded. Results-Intrafamilial variation of expressivity of the features obesity, polydactyly, abnormal radiograms of the e… Show more

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Cited by 82 publications
(81 citation statements)
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“…In humans, there is wide inter-and intrafamilial phenotypic variability, suggesting the presence of modifier loci (15,16). The generation of Bbs4 knockout mice is a step toward investigating the role of genetic modifiers in BBS.…”
Section: Discussionmentioning
confidence: 99%
“…In humans, there is wide inter-and intrafamilial phenotypic variability, suggesting the presence of modifier loci (15,16). The generation of Bbs4 knockout mice is a step toward investigating the role of genetic modifiers in BBS.…”
Section: Discussionmentioning
confidence: 99%
“…4,6,[14][15][16][17] Birth weight is usually within the normal range, although there is an evidence of a skewed distribution towards the upper centiles. 18 One-third of those with a normal birth weight develop obesity by the age of one.…”
Section: Clinical Overviewmentioning
confidence: 99%
“…5,6 Inheritance is traditionally considered autosomal recessive, although notable exceptions exist, whereby BBS may be an oligogenic disorder. 7 The prevalence of BBS varies markedly between populations; from 1:160 000 in northern European populations 5 to 1:13 500 and 1:17 5000, respectively, in isolated communities in Kuwait and Newfoundland, where a higher level of consanguinity prevails.…”
Section: Introductionmentioning
confidence: 99%
“…Obesity is the second major feature in BBS patients; the current incidence of obesity in the BBS cohort has been estimated to be 72-92% [Riise et al, 1997;Beales et al, 1999;Moore et al, 2005;M'hamdi et al, 2013]. Usually beginning in early childhood and becoming severe with age, obesity appears to be widespread and diffuse [Forsythe and Beales, 2013].…”
Section: Obesitymentioning
confidence: 99%