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Possible New Syndrome: Left Ventricular Noncompaction, Partial Agenesis of the Corpus Callosum, and Developmental Delay in a Brazilian Child

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dc.contributor.authorLamonica, Dionisia A. C.
dc.contributor.authorAbramides, Dagma Venturini Marques
dc.contributor.authorMaximino, Luciana P.
dc.contributor.authorGejao, Mariana G.
dc.contributor.authorda Silva, Greyce K.
dc.contributor.authorFerreira, Amanda T.
dc.contributor.authorFurlan, Renata H.
dc.contributor.authorGiacheti, Célia Maria [UNESP]
dc.contributor.authorBarros-Neto, Plinio A.
dc.contributor.authorRichieri-Costa, A.
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-20T13:31:32Z
dc.date.available2014-05-20T13:31:32Z
dc.date.issued2009-05-01
dc.description.abstractWe report oil the clinical, neuropsychological and language characteristics of it boy with left ventricular noncompaction cardiomyopathy (LVNC), agenesis of the splenium of the corpus callosum, minor anomalies of face and limbs, mild mental retardation, and speech and language disabilities. The occurrence of pilomatricoma (calcifying epithelioma) may be part of the clinical spectrum or a fortuitous finding. Compared to other related conditions with LVNC suggests that this is a new unique pattern MCA/MR syndrome. (C) 2009 Wiley-Liss, Inc.en
dc.description.affiliationHRAC USP, Dept Med Genet, BR-17012900 Bauru, SP, Brazil
dc.description.affiliationFOB USP, Dept Fonoaudiol, Bauru, SP, Brazil
dc.description.affiliationUNESP, Dept Fonoaudiol, Marilia, SP, Brazil
dc.description.affiliationCentroCard Bauru, Bauru, SP, Brazil
dc.description.affiliationUnespUNESP, Dept Fonoaudiol, Marilia, SP, Brazil
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.description.sponsorshipIdCNPq: 470996/2006-4
dc.description.sponsorshipIdCNPq: 301926/2007-7
dc.format.extent1041-1045
dc.identifierhttp://dx.doi.org/10.1002/ajmg.a.32787
dc.identifier.citationAmerican Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 149A, n. 5, p. 1041-1045, 2009.
dc.identifier.doi10.1002/ajmg.a.32787
dc.identifier.issn1552-4825
dc.identifier.lattes2331180822532901
dc.identifier.urihttp://hdl.handle.net/11449/10739
dc.identifier.wosWOS:000265805900035
dc.language.isoeng
dc.publisherWiley-liss
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.relation.ispartofjcr2.264
dc.relation.ispartofsjr1,098
dc.rights.accessRightsAcesso restrito
dc.sourceWeb of Science
dc.subjectleft ventricular noncompaction cardiomyopathyen
dc.subjectmental retardationen
dc.subjectspeech/language disordersen
dc.titlePossible New Syndrome: Left Ventricular Noncompaction, Partial Agenesis of the Corpus Callosum, and Developmental Delay in a Brazilian Childen
dc.typeArtigo
dcterms.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dcterms.rightsHolderWiley-liss
dspace.entity.typePublication
unesp.author.lattes2331180822532901[8]
unesp.author.orcid0000-0001-9691-4672[8]
unesp.campusUniversidade Estadual Paulista (UNESP), Faculdade de Filosofia e Ciências, Maríliapt
unesp.departmentFonoaudiologia - FFCpt

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Marília - FFC - Faculdade de Filosofia e Ciências