Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?
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...
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2017/3480980 |
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| author | Timothy Andrew Walsh Krishna Revanna Gopagondanahalli Atul Malhotra |
| author_facet | Timothy Andrew Walsh Krishna Revanna Gopagondanahalli Atul Malhotra |
| author_sort | Timothy Andrew Walsh |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-eaccbcb749b6416b8a8a5b251f640488 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-eaccbcb749b6416b8a8a5b251f6404882025-02-03T06:01:41ZengWileyCase Reports in Pediatrics2090-68032090-68112017-01-01201710.1155/2017/34809803480980Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?Timothy Andrew Walsh0Krishna Revanna Gopagondanahalli1Atul Malhotra2Monash Newborn, Monash Children’s Hospital, Melbourne, VIC, AustraliaMonash Newborn, Monash Children’s Hospital, Melbourne, VIC, AustraliaMonash Newborn, Monash Children’s Hospital, Melbourne, VIC, AustraliaIntroduction. 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.http://dx.doi.org/10.1155/2017/3480980 |
| spellingShingle | Timothy Andrew Walsh Krishna Revanna Gopagondanahalli Atul Malhotra Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology? Case Reports in Pediatrics |
| title | Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology? |
| title_full | Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology? |
| title_fullStr | Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology? |
| title_full_unstemmed | Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology? |
| title_short | Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology? |
| title_sort | williams beuren syndrome and congenital lobar emphysema uncommon association with common pathology |
| url | http://dx.doi.org/10.1155/2017/3480980 |
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