Bardet-Biedl Syndrome and Brain Abnormalities

Abstract

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. The main features are obesity, polydactyly, pigmentary retinopathy, learning disabilities, hypogonadism, and renal abnormalities. To date, eleven genes have been cloned but there is still little knowledge about genotype/phenotype correlations. We describe three additional cases with BBS and cerebral abnormalities and focus on cerebellar abnormalities in BBS.

Key words

Bardet-Biedl syndrome - cerebellar atrophy - pigmentary retinopathy - cerebellar hypoplasia

References

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