Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Medicine
Volume 2012 (2012), Article ID 585726, 4 pages
http://dx.doi.org/10.1155/2012/585726
Case Report

Williams-Beuren's Syndrome: A Case Report

1Non-Communicable Pediatric Diseases Research Center, Babol University of Medical Sciences, Mazandaran, Iran
2Mazandaran University of Medical Sciences, Sari, Iran
3Fatemeh Zahra Hospital, Mazandaran University of Medical Science, Sari, Iran

Received 27 April 2012; Accepted 25 June 2012

Academic Editor: Gianfranco D. Alpini

Copyright © 2012 Hassan Zamani 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. C. B. Moris and C. A. Mervis, “Wiliams syndrome and related disorders,” Annual Review of Genomics and Human Genetics, vol. 1, pp. 461–484, 2000. View at Google Scholar
  2. C. B. Mervis, B. F. Robinson, J. Bertrand, C. A. Morris, B. P. Klein-Tasman, and S. C. Armstrong, “The williams syndrome cognitive profile,” Brain and Cognition, vol. 44, no. 3, pp. 604–628, 2000. View at Publisher · View at Google Scholar · View at Scopus
  3. D. Kececioglu, S. Kotthoff, and J. Vogt, “Williams-Beuren syndrome: a 30-year follow-up of natural and postoperative course,” European Heart Journal, vol. 14, no. 11, pp. 1458–1464, 1993. View at Google Scholar · View at Scopus
  4. M. Eronen, M. Peippo, A. Hiippala et al., “Cardiovascular manifestations in 75 patients with Williams syndrome,” Journal of Medical Genetics, vol. 39, no. 8, pp. 554–558, 2002. View at Google Scholar · View at Scopus
  5. M. E. Curran, D. L. Atkinson, A. K. Ewart, C. A. Morris, M. F. Leppert, and M. T. Keating, “The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis,” Cell, vol. 73, no. 1, pp. 159–168, 1993. View at Publisher · View at Google Scholar · View at Scopus
  6. K. Metcalfe, A. K. Rucka, L. Smoot et al., “Elastin: mutational spectrum in supravalvular aortic stenosis,” European Journal of Human Genetics, vol. 8, no. 12, pp. 955–963, 2000. View at Publisher · View at Google Scholar · View at Scopus
  7. J. M. Frangiskakis, A. K. Ewart, C. A. Morris et al., “LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition,” Cell, vol. 86, no. 1, pp. 59–69, 1996. View at Publisher · View at Google Scholar · View at Scopus
  8. R. A. Boxer, M. C. Fishman, M. A. LaCorte, S. Singh, and V. A. Parnell Jr., “Diagnosis and postoperative evaluation of supravalvular aortic stenosis by magnetic resonance imaging,” American Journal of Cardiology, vol. 58, no. 3, pp. 367–368, 1986. View at Google Scholar · View at Scopus
  9. C. Stamm, C. Kreutzer, D. Zurakowski et al., “Forty-one years of surgical experience with congenital supravalvular aortic stenosis,” Journal of Thoracic and Cardiovascular Surgery, vol. 118, no. 5, pp. 874–885, 1999. View at Publisher · View at Google Scholar · View at Scopus
  10. L. C. Blieden, R. V. Lucas Jr., and J. B. Carter, “Developmental complex including supravalvular stenosis of the aorta and pulmonary trunk,” Circulation, vol. 49, no. 3, pp. 585–590, 1974. View at Google Scholar · View at Scopus
  11. B. B. Gay Jr., R. H. French, W. H. Shuford, and J. V. Rogers Jr., “The roentgenologic features of single and multiple coarctations of the pulmonary artery and branches,” The American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine, vol. 90, pp. 599–613, 1963. View at Google Scholar · View at Scopus
  12. A. H. Matsumoto, D. J. Delany, L. A. Parker, and K. A. Ney, “Massive hemoptysis associated with isolated peripheral pulmonary artery stenosis,” Catheterization and Cardiovascular Diagnosis, vol. 13, no. 5, pp. 313–316, 1987. View at Google Scholar · View at Scopus
  13. G. H. Watson and V. Miller, “Arteriohepatic dysplasia. Familial pulmonary arterial stenosis with neonatal liver disease,” Archives of Disease in Childhood, vol. 48, no. 6, pp. 459–466, 1973. View at Google Scholar · View at Scopus
  14. D. Alagille, M. Odievre, M. Gautier, and P. DommerguesJ. P., “Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur,” Journal of Pediatrics, vol. 86, no. 1, pp. 63–71, 1975. View at Google Scholar · View at Scopus
  15. J. A. Noonan, “Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease,” American Journal of Diseases of Children, vol. 116, no. 4, pp. 373–380, 1968. View at Google Scholar · View at Scopus
  16. J. E. Allanson, “Noonan syndrome,” in Management of Genetic Syndromes, S. B. Cassidy and J. E. Allanson, Eds., Wiley-Liss, Hoboken, NJ, USA, 2nd edition, 2005. View at Google Scholar
  17. A. K. Ewart, C. A. Morris, G. J. Ensing et al., “A human vascular disorder, supravalvular aortic stenosis, maps to chromosome 7,” Proceedings of the National Academy of Sciences of the United States of America, vol. 90, no. 8, pp. 3226–3230, 1993. View at Google Scholar · View at Scopus
  18. J. C. Wiliams, B. G. Barratt-Boyes, and J. B. Lowe, “Supravalvular aortic stenosis,” Circulation, vol. 24, pp. 1311–1318, 1961. View at Google Scholar · View at Scopus
  19. A. J. Beuren, C. Schulze, P. Eberle, D. Harmjanz, and J. Apitz, “The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation and similar facial appearance,” The American Journal of Cardiology, vol. 13, no. 4, pp. 471–483, 1964. View at Google Scholar · View at Scopus
  20. J. F. Keane, K. E. Fellows, and C. G. LaFarge, “The surgical management of discrete and diffuse supravalvar aortic stenosis,” Circulation, vol. 54, no. 1, pp. 112–117, 1976. View at Google Scholar · View at Scopus
  21. J. W. French and W. G. Guntheroth, “An explanation of asymmetric upper extremity blood pressures in supravalvular aortic stenosis: the Coanda effect,” Circulation, vol. 42, no. 1, pp. 31–36, 1970. View at Google Scholar · View at Scopus
  22. E. M. Cherniske, T. O. Carpenter, C. Klaiman et al., “Multisystem study of 20 older adults with Williams syndrome,” American Journal of Medical Genetics A, vol. 131, no. 3, pp. 255–264, 2004. View at Google Scholar · View at Scopus
  23. J. L. B. Jacob, W. M. C. Coehlo, N. C. S. Machado, and S. A. C. Garzon, “Initial experience with balloon dilatation of supravalvar aortic stenosis,” British Heart Journal, vol. 70, no. 5, pp. 476–478, 1993. View at Google Scholar · View at Scopus
  24. J. S. de Lezo, M. Pan, A. Medina, J. Segura, D. Pavlovic, and M. Romero, “Acute aortic insufficiency complicating stent treatment of supravalvular aortic stenosis: successful release of trapped leaflets by wiring the stent,” Catheterization and Cardiovascular Interventions, vol. 61, no. 4, pp. 537–541, 2004. View at Publisher · View at Google Scholar · View at Scopus
  25. M. G. Hazekamp, A. P. Kappetein, P. H. School et al., “Brom's three-patch technique for repair of supravalvular aortic stenosis,” Journal of Thoracic and Cardiovascular Surgery, vol. 118, no. 2, pp. 252–258, 1999. View at Publisher · View at Google Scholar · View at Scopus