Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

  title={Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.},
  author={Houda Karmous-Benailly and Jelena Martinovic and M K Gubler and Yoann Sirot and Laure Clech and Catherine Ozilou and Jo{\"e}lle Aug{\'e} and Nora Brahimi and Heather C Etchevers and Eric Detrait and Chantal Esculpavit and Sophie Audollent and G{\'e}raldine Goudefroye and Marie Gonzal{\`e}s and Julia Tantau and Philippe Loget and M. P. Joubert and Dominique Gaillard and Corinne Jeanne-Pasquier and Anne-lise Delezoide and M. O. Peter and Ghislaine Plessis and Brigitte Simon-Bouy and H{\'e}l{\`e}ne J Dollfus and Martine F Le Merrer and Arnold Munnich and F{\'e}r{\'e}cht{\'e} Encha-Razavi and Michel Vekemans and Tania Atti{\'e}-Bitach},
  journal={American journal of human genetics},
  volume={76 3},
Bardet-Biedl syndrome (BBS) is a multisystemic disorder characterized by postaxial polydactyly, progressive retinal dystrophy, obesity, hypogonadism, renal dysfunction, and learning difficulty. Other manifestations include diabetes mellitus, heart disease, hepatic fibrosis, and neurological features. The condition is genetically heterogeneous, and eight genes (BBS1-BBS8) have been identified to date. A mutation of the BBS1 gene on chromosome 11q13 is observed in 30%-40% of BBS cases. In… CONTINUE READING


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