Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication

Ebstein anomaly is a congenital heart defect with a low prevalence and high mortality in the early stages of life. In medical literature, there is no reported association between Ebstein anomaly and cri du chat syndrome. Here, we report the case of a full-term newborn with a low weight for his age a...

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Tipo de recurso:
Fecha de publicación:
2020
Institución:
Universidad del Rosario
Repositorio:
Repositorio EdocUR - U. Rosario
Idioma:
eng
OAI Identifier:
oai:repository.urosario.edu.co:10336/27554
Acceso en línea:
http://dx.doi.org/10.1136/bcr-2019-233766
https://repository.urosario.edu.co/handle/10336/27554
Palabra clave:
Congenital disorders
Genetic screening / counselling
Genetics
Neonatal intensive care
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Restringido (Acceso a grupos específicos)
id EDOCUR2_e1a7f4dfbe3f8fc36a03f2fb57543106
oai_identifier_str oai:repository.urosario.edu.co:10336/27554
network_acronym_str EDOCUR2
network_name_str Repositorio EdocUR - U. Rosario
repository_id_str
spelling 89828d15-6b60-4386-865c-a677dc8db68e-13cdf7d82-8fa7-4304-a41e-cb87ca189ccc-127067d33-cb30-4e9d-a8b6-61b734d13f38-1763272336002020-08-19T14:42:42Z2020-08-19T14:42:42Z2020-06-01Ebstein anomaly is a congenital heart defect with a low prevalence and high mortality in the early stages of life. In medical literature, there is no reported association between Ebstein anomaly and cri du chat syndrome. Here, we report the case of a full-term newborn with a low weight for his age and who had a prenatal diagnosis of Ebstein anomaly and a postnatal diagnosis of cri du chat syndrome and 20q duplication detected on array CGH. The patient required medical treatment with inotropic support, high-frequency ventilation and nitric oxide, with an adequate response. Surgical intervention was not needed.application/pdfhttp://dx.doi.org/10.1136/bcr-2019-233766EISSN: 1757-790Xhttps://repository.urosario.edu.co/handle/10336/27554engBMJ PublishingNo. 6233766BMJ Case ReportsVol. 13BMJ Case Reports, EISSN: 1757-790X, Vol.13, No.6 (Jun 2020); pp. 233766https://casereports.bmj.com/content/13/6/e233766.longRestringido (Acceso a grupos específicos)http://purl.org/coar/access_right/c_16ecBMJ Case Reportsinstname:Universidad del Rosarioreponame:Repositorio Institucional EdocURCongenital disordersGenetic screening / counsellingGeneticsNeonatal intensive careEbstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplicationAnomalía de Ebstein asociada con síndrome de cri du chat (llanto de gato) y duplicación 20qarticleArtículohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501Olivella, AlbertoManotas, HernanPiñeros, Juan GabrielPayan-Gomez, Cesar10336/27554oai:repository.urosario.edu.co:10336/275542021-06-03 00:50:15.129https://repository.urosario.edu.coRepositorio institucional EdocURedocur@urosario.edu.co
dc.title.spa.fl_str_mv Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication
dc.title.TranslatedTitle.spa.fl_str_mv Anomalía de Ebstein asociada con síndrome de cri du chat (llanto de gato) y duplicación 20q
title Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication
spellingShingle Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication
Congenital disorders
Genetic screening / counselling
Genetics
Neonatal intensive care
title_short Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication
title_full Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication
title_fullStr Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication
title_full_unstemmed Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication
title_sort Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication
dc.subject.keyword.spa.fl_str_mv Congenital disorders
Genetic screening / counselling
Genetics
Neonatal intensive care
topic Congenital disorders
Genetic screening / counselling
Genetics
Neonatal intensive care
description Ebstein anomaly is a congenital heart defect with a low prevalence and high mortality in the early stages of life. In medical literature, there is no reported association between Ebstein anomaly and cri du chat syndrome. Here, we report the case of a full-term newborn with a low weight for his age and who had a prenatal diagnosis of Ebstein anomaly and a postnatal diagnosis of cri du chat syndrome and 20q duplication detected on array CGH. The patient required medical treatment with inotropic support, high-frequency ventilation and nitric oxide, with an adequate response. Surgical intervention was not needed.
publishDate 2020
dc.date.accessioned.none.fl_str_mv 2020-08-19T14:42:42Z
dc.date.available.none.fl_str_mv 2020-08-19T14:42:42Z
dc.date.created.spa.fl_str_mv 2020-06-01
dc.type.eng.fl_str_mv article
dc.type.coarversion.fl_str_mv http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.coar.fl_str_mv http://purl.org/coar/resource_type/c_6501
dc.type.spa.spa.fl_str_mv Artículo
dc.identifier.doi.none.fl_str_mv http://dx.doi.org/10.1136/bcr-2019-233766
dc.identifier.issn.none.fl_str_mv EISSN: 1757-790X
dc.identifier.uri.none.fl_str_mv https://repository.urosario.edu.co/handle/10336/27554
url http://dx.doi.org/10.1136/bcr-2019-233766
https://repository.urosario.edu.co/handle/10336/27554
identifier_str_mv EISSN: 1757-790X
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.citationIssue.none.fl_str_mv No. 6
dc.relation.citationStartPage.none.fl_str_mv 233766
dc.relation.citationTitle.none.fl_str_mv BMJ Case Reports
dc.relation.citationVolume.none.fl_str_mv Vol. 13
dc.relation.ispartof.spa.fl_str_mv BMJ Case Reports, EISSN: 1757-790X, Vol.13, No.6 (Jun 2020); pp. 233766
dc.relation.uri.spa.fl_str_mv https://casereports.bmj.com/content/13/6/e233766.long
dc.rights.coar.fl_str_mv http://purl.org/coar/access_right/c_16ec
dc.rights.acceso.spa.fl_str_mv Restringido (Acceso a grupos específicos)
rights_invalid_str_mv Restringido (Acceso a grupos específicos)
http://purl.org/coar/access_right/c_16ec
dc.format.mimetype.none.fl_str_mv application/pdf
dc.publisher.spa.fl_str_mv BMJ Publishing
dc.source.spa.fl_str_mv BMJ Case Reports
institution Universidad del Rosario
dc.source.instname.none.fl_str_mv instname:Universidad del Rosario
dc.source.reponame.none.fl_str_mv reponame:Repositorio Institucional EdocUR
repository.name.fl_str_mv Repositorio institucional EdocUR
repository.mail.fl_str_mv edocur@urosario.edu.co
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