Long Survival of a Patient with Trisomy 18 and Dandy-Walker Syndrome
Trisomy 18 is a genetic disease resulting from an extra chromosome 18, characterized by a broad clinical spectrum, poor prognosis and low rates of survival. This is the case of a 12 year-old girl diagnosed with full trisomy 18, and multiple malformations, including Dandy-Walker Syndrome and congenit...
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| Format: | Article |
| Language: | English |
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MDPI AG
2019-07-01
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| Series: | Medicina |
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| Online Access: | https://www.mdpi.com/1010-660X/55/7/352 |
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| author | Leonardo Moura Ferreira de Souza Augusto Galvão e Brito Medeiros José Paulo Ribeiro Júnior Aurea Nogueira de Melo Sylvyo André Morais Medeiros Dias |
| author_facet | Leonardo Moura Ferreira de Souza Augusto Galvão e Brito Medeiros José Paulo Ribeiro Júnior Aurea Nogueira de Melo Sylvyo André Morais Medeiros Dias |
| author_sort | Leonardo Moura Ferreira de Souza |
| collection | DOAJ |
| description | Trisomy 18 is a genetic disease resulting from an extra chromosome 18, characterized by a broad clinical spectrum, poor prognosis and low rates of survival. This is the case of a 12 year-old girl diagnosed with full trisomy 18, and multiple malformations, including Dandy-Walker Syndrome and congenital heart defects on long term survival. At nine months, a new echocardiogram showed a double outlet right ventricle, significant pulmonary stenosis, patent ductus arteriosus and ventricular septal defect. Cardiac surgery was performed at one year and seven months. Early surgical intervention and multidisciplinary follow-up may change the clinical outcome of the disease. Further studies are required to evaluate the benefit of invasive procedures such as cardiac surgery on survival of patients with trisomy 18. |
| first_indexed | 2024-03-12T09:55:43Z |
| format | Article |
| id | doaj.art-ab9ac00343d943b8b561c1d28e16afc7 |
| institution | Directory Open Access Journal |
| issn | 1010-660X |
| language | English |
| last_indexed | 2024-03-12T09:55:43Z |
| publishDate | 2019-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Medicina |
| spelling | doaj.art-ab9ac00343d943b8b561c1d28e16afc72023-09-02T12:12:01ZengMDPI AGMedicina1010-660X2019-07-0155735210.3390/medicina55070352medicina55070352Long Survival of a Patient with Trisomy 18 and Dandy-Walker SyndromeLeonardo Moura Ferreira de Souza0Augusto Galvão e Brito Medeiros1José Paulo Ribeiro Júnior2Aurea Nogueira de Melo3Sylvyo André Morais Medeiros Dias4Department of Pediatric of Federal, University of Rio Grande do Norte, Natal 58051-900, BrazilFederal University of Rio Grande do Norte, Natal 58051-900, BrazilFederal University of Rio Grande do Norte, Natal 58051-900, BrazilDepartment of Pediatric of Federal, University of Rio Grande do Norte, Natal 58051-900, BrazilFederal University of Rio Grande do Norte, Natal 58051-900, BrazilTrisomy 18 is a genetic disease resulting from an extra chromosome 18, characterized by a broad clinical spectrum, poor prognosis and low rates of survival. This is the case of a 12 year-old girl diagnosed with full trisomy 18, and multiple malformations, including Dandy-Walker Syndrome and congenital heart defects on long term survival. At nine months, a new echocardiogram showed a double outlet right ventricle, significant pulmonary stenosis, patent ductus arteriosus and ventricular septal defect. Cardiac surgery was performed at one year and seven months. Early surgical intervention and multidisciplinary follow-up may change the clinical outcome of the disease. Further studies are required to evaluate the benefit of invasive procedures such as cardiac surgery on survival of patients with trisomy 18.https://www.mdpi.com/1010-660X/55/7/352trisomy 18Edwards syndromeaneuploidyDandy-Walkerlong-term survival |
| spellingShingle | Leonardo Moura Ferreira de Souza Augusto Galvão e Brito Medeiros José Paulo Ribeiro Júnior Aurea Nogueira de Melo Sylvyo André Morais Medeiros Dias Long Survival of a Patient with Trisomy 18 and Dandy-Walker Syndrome Medicina trisomy 18 Edwards syndrome aneuploidy Dandy-Walker long-term survival |
| title | Long Survival of a Patient with Trisomy 18 and Dandy-Walker Syndrome |
| title_full | Long Survival of a Patient with Trisomy 18 and Dandy-Walker Syndrome |
| title_fullStr | Long Survival of a Patient with Trisomy 18 and Dandy-Walker Syndrome |
| title_full_unstemmed | Long Survival of a Patient with Trisomy 18 and Dandy-Walker Syndrome |
| title_short | Long Survival of a Patient with Trisomy 18 and Dandy-Walker Syndrome |
| title_sort | long survival of a patient with trisomy 18 and dandy walker syndrome |
| topic | trisomy 18 Edwards syndrome aneuploidy Dandy-Walker long-term survival |
| url | https://www.mdpi.com/1010-660X/55/7/352 |
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