Bardet-biedl syndrome and brain abnormalities.
Neuropediatrics. 2007-02-01; 38(1): 5-9
DOI: 10.1055/s-2007-981466
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1. Neuropediatrics. 2007 Feb;38(1):5-9.
Bardet-biedl syndrome and brain abnormalities.
Rooryck C(1), Pelras S, Chateil JF, Cances C, Arveiler B, Verloes A, Lacombe D,
Goizet C.
Author information:
(1)Service de Génétique Médicale, CHU Pellegrin-Enfants, Bordeaux, France.
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.
DOI: 10.1055/s-2007-981466
PMID: 17607597 [Indexed for MEDLINE]