Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Genetics
Volume 2013 (2013), Article ID 159143, 3 pages
http://dx.doi.org/10.1155/2013/159143
Case Report

Diagnosis of Bardet-Biedl Syndrome in Consecutive Pregnancies Affected with Echogenic Kidneys and Polydactyly in a Consanguineous Couple

1Department of Obstetrics and Gynecology, Walter Reed National Military Medical Center, 8901 Wisconsin Avenue, Bethesda, MD 20889, USA
2Prenatal Assessment Center, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA
3Medical Genetics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA
4Maternal-Fetal Medicine, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA

Received 19 December 2012; Accepted 3 February 2013

Academic Editors: Y. Ban, P. D. Cotter, P. Gao, and A. Sazci

Copyright © 2013 Tieneka M. Baker et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. P. L. Beales, N. Elcioglu, A. S. Woolf, D. Parker, and F. A. Flinter, “New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey,” Journal of Medical Genetics, vol. 36, no. 6, pp. 437–446, 1999. View at Google Scholar · View at Scopus
  2. K. Chaumoitre, M. Brun, M. Cassart et al., “Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: a multicenter study,” Ultrasound in Obstetrics and Gynecology, vol. 28, no. 7, pp. 911–917, 2006. View at Publisher · View at Google Scholar · View at Scopus
  3. G. Billingsley, C. Deveault, and E. Héon, “BBS mutational analysis: a strategic approach,” Ophthalmic Genetics, vol. 32, no. 3, pp. 181–187, 2011. View at Publisher · View at Google Scholar
  4. J. Muller, C. Stoetzel, M. C. Vincent et al., “Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease,” Human Genetics, vol. 127, no. 5, pp. 583–593, 2010. View at Publisher · View at Google Scholar · View at Scopus
  5. I. Pereiro, D. Valverde, T. Piñeiro-Gallego et al., “New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping,” Molecular Vision, vol. 16, pp. 137–143, 2010. View at Google Scholar · View at Scopus
  6. F. S. Alkuraya, “Homozygosity mapping: one more tool in the clinical geneticist's toolbox,” Genetics in Medicine, vol. 12, no. 4, pp. 236–239, 2010. View at Publisher · View at Google Scholar · View at Scopus
  7. C. Stoetzel, V. Laurier, L. Faivre et al., “BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families,” Journal of Human Genetics, vol. 51, no. 1, pp. 81–84, 2006. View at Publisher · View at Google Scholar · View at Scopus
  8. P. Dar, G. S. Sachs, S. M. Carter, J. C. Ferreira, H. M. Nitowsky, and S. J. Gross, “Prenatal diagnosis of Bardet-Biedl syndrome by targeted second-trimester sonography,” Ultrasound in Obstetrics and Gynecology, vol. 17, no. 4, pp. 354–356, 2001. View at Publisher · View at Google Scholar · View at Scopus
  9. M. Cassart, D. Eurin, F. Didier, L. Guibaud, and E. F. Avni, “Antenatal renal sonographic anomalies and postnatal follow-up of renal involvement in Bardet-Biedl syndrome,” Ultrasound in Obstetrics and Gynecology, vol. 24, no. 1, pp. 51–54, 2004. View at Publisher · View at Google Scholar · View at Scopus
  10. H. Karmous-Benailly, J. Martinovic, M. C. Gubler et al., “Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome,” American Journal of Human Genetics, vol. 76, no. 3, pp. 493–504, 2005. View at Publisher · View at Google Scholar · View at Scopus