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Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?
Joint Authors
Malhotra, Atul
Walsh, Timothy Andrew
Gopagondanahalli, Krishna Revanna
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-05-24
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Walsh, Timothy Andrew& Gopagondanahalli, Krishna Revanna& Malhotra, Atul. 2017. Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?. Case Reports in Pediatrics،Vol. 2017, no. 2017, pp.1-4.
https://search.emarefa.net/detail/BIM-1149306
Modern Language Association (MLA)
Walsh, Timothy Andrew…[et al.]. Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?. Case Reports in Pediatrics No. 2017 (2017), pp.1-4.
https://search.emarefa.net/detail/BIM-1149306
American Medical Association (AMA)
Walsh, Timothy Andrew& Gopagondanahalli, Krishna Revanna& Malhotra, Atul. Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?. Case Reports in Pediatrics. 2017. Vol. 2017, no. 2017, pp.1-4.
https://search.emarefa.net/detail/BIM-1149306
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1149306