J Med Genet 1999;36:437-446 ( June )

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

P L Beales^a, N Elcioglu^b, A S Woolf^c, D Parker^d, F A Flinter^a

^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.


Keywords: Bardet-Biedl syndrome; diagnosis; renal malformation; heterozygotes

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© 1999 by J Med Genet
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