Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome Houda Karmous-Benailly, Jelena Martinovic, Marie-Claire Gubler, Yoann Sirot,

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Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome Houda Karmous-Benailly, Jelena Martinovic, Marie-Claire Gubler, Yoann Sirot, Laure Clech, Catherine Ozilou, Joëlle Augé, Nora Brahimi, Heather Etchevers, Eric Detrait, Chantal Esculpavit, Sophie Audollent, Géraldine Goudefroye, Marie Gonzales, Julia Tantau, Philippe Loget, Madeleine Joubert, Dominique Gaillard, Corinne Jeanne-Pasquier, Anne-Lise Delezoide, Marie-Odile Peter, Ghislaine Plessis, Brigitte Simon-Bouy, Hélène Dollfus, Martine Le Merrer, Arnold Munnich, Férechté Encha-Razavi, Michel Vekemans, Tania Attié-Bitach The American Journal of Human Genetics Volume 76, Issue 3, Pages 493-504 (March 2005) DOI: 10.1086/428679 Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 1 Results of the BBS2, BBS4, and BBS6 mutation screening. The pedigrees and mutations are indicated. The black symbols indicate the affected cases. Below each pedigree, sequence chromatographs are shown. In family BOU, the results of the RT-PCR study confirming the deletion of three BBS4 exons in proband 5b (E) and the results of haplotype analysis at the BBS4 locus (F) are shown. The American Journal of Human Genetics 2005 76, 493-504DOI: (10.1086/428679) Copyright © 2005 The American Society of Human Genetics Terms and Conditions

Figure 2 Histological sections (hematoxylin/eosin) of kidneys and livers of fetuses carrying BBS mutations. Case 8 shows normal kidney histology. Cases 1 and 4 show medullary cysts, whereas cases 3, 6, and 2b show kidneys “Meckel-like” lesions. The liver shows moderate portal fibrosis in cases 3 and 2b. The American Journal of Human Genetics 2005 76, 493-504DOI: (10.1086/428679) Copyright © 2005 The American Society of Human Genetics Terms and Conditions