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a Department of
Medical and Molecular Genetics, 8th Floor Guy's Tower, Guy's
Hospital, London SE1 9RT, UK, b Genetics Department, Cerrahpasa Medical
School, Istanbul, Turkey, c Nephrourology Unit, Institute of Child Health,
University College London Medical School, London WC1N 1EH, UK, d Laurence-Moon-Bardet-Biedl
Society, Spring Grove, Loudhams Wood Lane, Chalfont St Giles, Bucks HP8
4AR, UK
Correspondence to: Dr Beales.
Received 17 July 1998;
Revised version accepted for publication 17 November 1998
Bardet-Biedl syndrome (BBS) is an autosomal recessive condition
characterised by rod-cone dystrophy, postaxial polydactyly, central
obesity, mental retardation, hypogonadism, and renal dysfunction. BBS
expression varies both within and between families and diagnosis is
often difficult. We sought to define the condition more clearly by
studying 109 BBS patients and their families, the largest population surveyed to date. The average age at diagnosis was 9 years, which is
late for such a debilitating condition, but the slow development of the
clinical features of BBS probably accounts for this. Postaxial polydactyly had been present in 69% of patients at birth, but obesity
had only begun to develop at around 2-3 years, and retinal degeneration
had not become apparent until a mean age of 8.5 years. Our study
identified some novel clinical features, including neurological, speech, and language deficits, behavioural traits, facial dysmorphism, and dental anomalies. In the light of these features we propose a
revision of the diagnostic criteria, which may facilitate earlier diagnosis of this disorder. We present evidence for an overlapping phenotype with the Laurence-Moon syndrome and propose a unifying, descriptive label be adopted (polydactyly-obesity-kidney-eye syndrome).
We report an increased prevalence of renal malformations and
renal cell carcinoma in the unaffected relatives of BBS patients and
suggest that these may be a consequence of heterozygosity for BBS
genes. Our findings have important implications for the care of BBS
patients and their unaffected relatives.
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