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Does Bardet-Biedl syndrome have a characteristic face?
  1. Isabel Lorda-Sancheza,
  2. Carmen Ayusoa,
  3. Raul Sanza,
  4. Angeles Ibañezb
  1. aServicio de Genética, Fundación Jimenez-Diaz, Av Reyes Catolicos 2, Madrid 28040, Spain, bDepartment of Cellular Biology, Universidad Complutense, Madrid, Spain
  1. Dr Lorda-Sanchez cayuso{at}

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Bardet-Biedl syndrome (BBS) (MIM 209900) is an autosomal recessive disorder with a wide spectrum of clinical manifestations. The generally accepted features of the BBS as a separate disorder from Laurence-Moon syndrome are retinal dystrophy, obesity, mental retardation, polydactyly, hypogenitalism, and renal anomalies.1 Recently, Beales et al 2 presented the largest clinical survey of living patients with Bardet-Biedl syndrome. The study reviewed the prevalence of some of the principal manifestations of the syndrome and showed some previously undescribed features, including the presence of a typical facies. We have also observed this characteristic face in our study of BBS patients.

We studied a total of 18 affected subjects from 12 Spanish families, who were referred to our Centre because of their retinal dystrophy (RP). They were defined as having BBS if they had RP plus at least two more of the remaining cardinal features (obesity, polydactyly, hypogenitalism, mental retardation, and renal abnormalities). In the four families with two affected members, two cardinal signs were sufficient for the diagnosis of the second member. The patients were identified through the Spanish Retinitis Pigmentosa Register among …

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