Bardet-biedl syndrome and brain abnormalities
C Rooryck, S Pelras, JF Chateil, C Cances… - …, 2007 - thieme-connect.com
Neuropediatrics, 2007•thieme-connect.com
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.
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.
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.
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