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Case Reports in Pediatrics
Volume 2017 (2017), Article ID 3480980, 4 pages
https://doi.org/10.1155/2017/3480980
Case Report

Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?

1Monash Newborn, Monash Children’s Hospital, Melbourne, VIC, Australia
2Department of Paediatrics, Monash University, Melbourne, VIC, Australia

Correspondence should be addressed to Atul Malhotra

Received 2 February 2017; Accepted 4 May 2017; Published 24 May 2017

Academic Editor: Georg Singer

Copyright © 2017 Timothy Andrew Walsh 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. B. R. Pober, “Williams-Beuren syndrome,” The New England Journal of Medicine, vol. 362, no. 3, pp. 239–252, 2010. View at Publisher · View at Google Scholar · View at Scopus
  2. A. C. Raynor, M. P. Capp, and W. C. Sealy, “Lobar emphysema of infancy. diagnosis, treatment, and etiological aspects,” The Annals of Thoracic Surgery, vol. 4, no. 4, pp. 374–385, 1967. View at Publisher · View at Google Scholar · View at Scopus
  3. W. Wong and E. Fiorino, “A novel case report of congenital lobar emphysema in a patient with williams-beuren syndrome,” Chest, vol. 142, article 1009A, 2012. View at Publisher · View at Google Scholar
  4. J. C. Williams, B. G. Barratt-Boyes, and J. B. Lowe, “Supravalvular aortic stenosis,” Circulation, vol. 24, pp. 1311–1318, 1961. View at Publisher · View at Google Scholar · View at Scopus
  5. A. J. Beuren, J. Apitz, and D. Harmjanz, “Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance,” Circulation, vol. 26, pp. 1235–1240, 1962. View at Publisher · View at Google Scholar · View at Scopus
  6. G. Merla, N. Brunetti-Pierri, L. Micale, and C. Fusco, “Copy number variants at Williams-Beuren syndrome 7q11.23 region,” Human Genetics, vol. 128, no. 1, pp. 3–26, 2010. View at Publisher · View at Google Scholar · View at Scopus
  7. D. Y. Li, A. E. Toland, B. B. Boak et al., “Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis,” Human Molecular Genetics, vol. 6, no. 7, pp. 1021–1028, 1997. View at Publisher · View at Google Scholar · View at Scopus
  8. B. H. Landing and L. G. Dixon, “Congenital malformations and genetic disorders of the respiratory tract (larynx, trachea, bronchi and lungs),” American Review of Respiratory Disease, vol. 120, no. 1, pp. 151–185, 1979. View at Google Scholar · View at Scopus
  9. L. Mahgoub, K. Aziz, D. Davies, and N. Leonard, “Miller-dieker syndrome associated with congenital lobar emphysema,” American Journal of Perinatology Reports, vol. 4, pp. 13–16, 2014. View at Publisher · View at Google Scholar
  10. A. Fettah, G. P. Reis, S. S. Kara et al., “An unusual congenital anomaly in Fanconi Aplastic anemia: congenital lobar emphysema,” Turkish Journal of Hematology, vol. 33, no. 3, pp. 263-264, 2016. View at Publisher · View at Google Scholar · View at Scopus
  11. B. C. Starcher, “Elastin and the lung,” Thorax, vol. 41, no. 8, pp. 577–585, 1986. View at Publisher · View at Google Scholar · View at Scopus
  12. M. C. Lowery, C. A. Morris, A. Ewart et al., “Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients,” American Journal of Human Genetics, vol. 57, pp. 49–53, 1995. View at Google Scholar · View at Scopus
  13. A. Shifren, A. G. Durmowicz, R. H. Knutsen, E. Hirano, and R. P. Mecham, “Elastin protein levels are a vital modifier affecting normal lung development and susceptibility to emphysema,” American Journal of Physiology—Lung Cellular and Molecular Physiology, vol. 292, no. 3, pp. L778–L787, 2007. View at Publisher · View at Google Scholar · View at Scopus
  14. B. L. O'Dell, K. H. Kilburn, W. N. McKenzie, and R. J. Thurston, “The lung of the copper-dificient rat. A model for developmental pulmonary emphysema,” American Journal of Pathology, vol. 91, no. 3, pp. 413–432, 1978. View at Google Scholar · View at Scopus
  15. P. A. Roberts, A. J. A. Holland, R. J. Halliday, S. M. Arbuckle, and D. T. Cass, “Congenital lobar emphysema: like father, like son,” Journal of Pediatric Surgery, vol. 37, no. 5, pp. 799–801, 2002. View at Publisher · View at Google Scholar · View at Scopus
  16. E. S. Wan, B. R. Pober, G. R. Washko, B. A. Raby, and E. K. Silverman, “Pulmonary function and emphysema in Williams-Beuren syndrome,” American Journal of Medical Genetics, Part A, vol. 152, no. 3, pp. 653–656, 2010. View at Publisher · View at Google Scholar · View at Scopus
  17. N. T. Berlinger, D. P. Porto, and T. R. Thompson, “Infantile lobar emphysema,” Annals of Otology, Rhinology & Laryngology, vol. 96, no. part 1, pp. 106–111, 1987. View at Publisher · View at Google Scholar · View at Scopus
  18. D. J. McCulley and B. L. Black, “Transcription factor pathways and congenital heart disease,” Current Topics in Developmental Biology, vol. 100, pp. 253–277, 2012. View at Publisher · View at Google Scholar · View at Scopus