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The eleventh reported case of Mulvihill-Smith syndrome in the literature

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dc.contributor.authorBreinis, Paulo
dc.contributor.authorAlves, Flavio Geraldes
dc.contributor.authorAlves, Camila A. E.
dc.contributor.authorCintra, Rafael G.
dc.contributor.authorAlmeida, Debora
dc.contributor.authorPassarelli, Priscila C.
dc.contributor.authorDomingues, Camila
dc.contributor.authorGerbim, Talita
dc.contributor.authorGasparetto, Regia
dc.contributor.authorAbreu, Luiz Carlos de
dc.contributor.authorValenti, Vitor Engrácia [UNESP]
dc.contributor.authorOliveira, Adriana Goncalves de
dc.contributor.authorMello Monteiro, Carlos Bandeira de
dc.contributor.authorWajnzstejn, Rubens
dc.contributor.institutionABC
dc.contributor.institutionLab Delineamento Estudos & Escrita Cient
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-12-03T13:10:28Z
dc.date.available2014-12-03T13:10:28Z
dc.date.issued2014-01-07
dc.description.abstractBackground: The Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described.Case presentation: This article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairment, deafness and allergic conjunctivitis. The patient was hospitalized several times for repeated infections, and the presence of multiple melanocytic nevi on his skin was noticed.Conclusions: Based on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome.en
dc.description.affiliationABC, Sch Med, Dept Neurol, BR-09060650 Santo Andre, SP, Brazil
dc.description.affiliationLab Delineamento Estudos & Escrita Cient, Dept Fisiol, BR-09060650 Santo Andre, SP, Brazil
dc.description.affiliationUNESP, Fac Philosophy & Sci, Dept Speech Language & Hearing Therapy, BR-17525900 Marilia, SP, Brazil
dc.description.affiliationUnespUNESP, Fac Philosophy & Sci, Dept Speech Language & Hearing Therapy, BR-17525900 Marilia, SP, Brazil
dc.description.sponsorshipSchool of Medicine of ABC
dc.format.extent4
dc.identifierhttp://dx.doi.org/10.1186/1471-2377-14-4
dc.identifier.citationBmc Neurology. London: Biomed Central Ltd, v. 14, 4 p., 2014.
dc.identifier.doi10.1186/1471-2377-14-4
dc.identifier.fileWOS000329387200001.pdf
dc.identifier.issn1471-2377
dc.identifier.urihttp://hdl.handle.net/11449/112160
dc.identifier.wosWOS:000329387200001
dc.language.isoeng
dc.publisherBiomed Central Ltd.
dc.relation.ispartofBmc Neurology
dc.relation.ispartofjcr2.170
dc.relation.ispartofsjr1,006
dc.rights.accessRightsAcesso aberto
dc.sourceWeb of Science
dc.subjectCase reportsen
dc.subjectRare diseasesen
dc.subjectNeurologyen
dc.titleThe eleventh reported case of Mulvihill-Smith syndrome in the literatureen
dc.typeArtigo
dcterms.rightsHolderBiomed Central Ltd
dspace.entity.typePublication
unesp.author.orcid0000-0002-2661-775X[13]
unesp.author.orcid0000-0001-7477-3805[11]
unesp.author.orcid0000-0002-7618-2109[10]
unesp.campusUniversidade Estadual Paulista (UNESP), Faculdade de Filosofia e Ciências, Maríliapt
unesp.departmentFonoaudiologia - FFCpt

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