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Neuropediatrics 2007; 38(1): 5-9
DOI: 10.1055/s-2007-981466
Original Article

© Georg Thieme Verlag KG Stuttgart · New York

Bardet-Biedl Syndrome and Brain Abnormalities

C. Rooryck 1 , 2 , S. Pelras 1 , J.-F. Chateil 3 , C. Cances 4 , B. Arveiler 1 , 2 , A. Verloes 5 , D. Lacombe 1 , 2 , C. Goizet 1 , 2
  • 1Service de Génétique Médicale, CHU Pellegrin-Enfants, Bordeaux, France
  • 2Laboratoire de Génétique Humaine, Développement et Cancer, Université Victor Segalen, Bordeaux, France
  • 3Service de Radiologie Pédiatrique, CHU Pellegrin-Enfants, Bordeaux, France
  • 4Service de Neurologie Pédiatrique, Hôpital Pédiatrique Universitaire, Toulouse, France
  • 5Service de Génétique Médicale, Hôpital Robert Debré, Paris, France
Further Information

Publication History

received 13.2.2006

accepted 7.2.2007

Publication Date:
02 July 2007 (online)

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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

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Correspondence

Prof. D. Lacombe

Service de Génétique Médicale

CHU Pellegrin-Enfants

Place Amélie Raba-Léon

33076 Bordeaux Cedex

France

Email: didier.lacombe@chu-bordeaux.fr

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