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Case Reports in Pediatrics
Volume 2017 (2017), Article ID 3480980, 4 pages
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.


Introduction. Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study. Case Presentation. We report another case of a male Caucasian newborn with nonspecific initial respiratory distress, with detection of CLE on repeat chest X-ray on Day 25 of life and concurrent ventricular septal defect, supravalvular aortic stenosis, and branch pulmonary stenosis, in whom a 7q11.23 deletion consistent with Williams-Beuren Syndrome was made. Conclusion. A diagnosis of congenital lobar emphysema should prompt further screening for congenital heart disease and genetic deletion, and further research is needed to investigate the role of elastin gene mutation in the development of the neonatal lung.