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LACHT association with hypoplasia of the upper airway. Clinical case

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dc.creatorGómez, Iván José Ardilaspa
dc.creatorRodríguez, Diana Alejandra Ruizspa
dc.creatorCarrero, María Rosalba Pardospa
dc.date.accessioned2020-05-25T23:58:59Z
dc.date.available2020-05-25T23:58:59Z
dc.date.created2017spa
dc.description.abstractIntroduction: The Mardini-Nyhan or LACHT association is a clinical condition of low prevalence that presents with pulmonary, cardiac and limb abnormalities, in which genetic etiology is not clearly documented to date. Objective: To describe the case of a 4-month-old child and the literature review of cases reported on this association, with the purpose of exposing the alterations found and thus guide the early diagnosis of this entity. Clinical case: 4 months old girl, who admitted to intensive care in mixed respiratory failure, with pulmonary, cardiac and limb disorders that meet criteria for LACHT association, additionally documents hypoplasia of the upper airway, which worsens the evolution, increases the difficulty in mechanical ventilation and favors the fatal outcome at 7 days of hospitalization. Conclusions: LACTH association is a rare pathology in which the clinical findings make it possible to suspect the diagnosis, this is the first case diagnosed in the Americas and the number 11 case in the world literature and brings as a new finding the association with hypoplasia of the upper airway. © 2017, Sociedad Chilena de Pediatria. All rights reserved.spa
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.4067/S0370-41062017000600781
dc.identifier.issn07176228
dc.identifier.issn03704106
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22965
dc.language.isospaspa
dc.publisherSociedad Chilena de Pediatriaspa
dc.relation.citationEndPage786
dc.relation.citationIssueNo. 6
dc.relation.citationStartPage781
dc.relation.citationTitleRevista Chilena de Pediatria
dc.relation.citationVolumeVol. 88
dc.relation.ispartofRevista Chilena de Pediatria, ISSN:07176228, 03704106, Vol.88, No.6 (2017); pp. 781-786spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85041748028&doi=10.4067%2fS0370-41062017000600781&partnerID=40&md5=862e79f5cee6e78da6324af23906f717spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordArticlespa
dc.subject.keywordCongenitaleng
dc.subject.keywordCase reportspa
dc.subject.keywordClinical articlespa
dc.subject.keywordFatalityspa
dc.subject.keywordFemalespa
dc.subject.keywordHeart diseasespa
dc.subject.keywordHospitalizationspa
dc.subject.keywordHumanspa
dc.subject.keywordHypoplasiaspa
dc.subject.keywordInfantspa
dc.subject.keywordLung diseasespa
dc.subject.keywordPediatric intensive care unitspa
dc.subject.keywordPrevalencespa
dc.subject.keywordRespiratory failurespa
dc.subject.keywordUpper respiratory tractspa
dc.subject.keywordAbnormalitiesspa
dc.subject.keywordCongenital heart malformationspa
dc.subject.keywordFingerspa
dc.subject.keywordLimb malformationspa
dc.subject.keywordLungspa
dc.subject.keywordLung diseasespa
dc.subject.keywordMultiple malformation syndromespa
dc.subject.keywordAbnormalitieseng
dc.subject.keywordFatal Outcomespa
dc.subject.keywordFemalespa
dc.subject.keywordFingersspa
dc.subject.keywordHeart Defectseng
dc.subject.keywordHumansspa
dc.subject.keywordInfantspa
dc.subject.keywordLimb Deformitieseng
dc.subject.keywordLungspa
dc.subject.keywordLung Diseasesspa
dc.subject.keywordLACHT associationspa
dc.subject.keywordLung agenesisspa
dc.subject.keywordMardini-Nyhan associationspa
dc.titleLACHT association with hypoplasia of the upper airway. Clinical casespa
dc.title.TranslatedTitleAsociación LACHT con hipoplasia de la vía aérea superior. Caso clínicospa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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