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Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report

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dc.contributor.authorRossi, N. F. [UNESP]
dc.contributor.authorGatto, A. R. [UNESP]
dc.contributor.authorCola, P. C. [UNESP]
dc.contributor.authorSouza, D. H. [UNESP]
dc.contributor.authorMoretti-Ferreira, D. [UNESP]
dc.contributor.authorGiacheti, C. M. [UNESP]
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-20T13:36:19Z
dc.date.available2014-05-20T13:36:19Z
dc.date.issued2009-01-01
dc.description.abstractThe phenotype of partial trisomy 9p includes global developmental delay, microcephaly, bulbous nose, downturned oral commissures, malformed ears, hypotonia, and severe cognitive and language disorders. We present a case report and a comparative review of clinical findings on this condition, focusing on speech-language development, cognitive abilities and swallowing evaluation. We suggest that oropharyngeal dysphagia should be further investigated, considering that pulmonary and nutritional disorders affect the survival and quality of life of the patient. As far as we know, this is the first study of a patient with partial trisomy 9p described with oropharyngeal dysphagia.en
dc.description.affiliationUniv Estadual Paulista, Dept Genet, Inst Biociencias, Botucatu, SP, Brazil
dc.description.affiliationUniv Estadual Paulista, Fac Med, Dept Neurol, Botucatu, SP, Brazil
dc.description.affiliationUniv Estadual Paulista, Fac Med, Dept Cirurgia, Botucatu, SP, Brazil
dc.description.affiliationUniv Estadual Paulista, Fac Filosofia & Ciencias, Dept Fonoaudiol, Botucatu, SP, Brazil
dc.description.affiliationUnespUniv Estadual Paulista, Dept Genet, Inst Biociencias, Botucatu, SP, Brazil
dc.description.affiliationUnespUniv Estadual Paulista, Fac Med, Dept Neurol, Botucatu, SP, Brazil
dc.description.affiliationUnespUniv Estadual Paulista, Fac Med, Dept Cirurgia, Botucatu, SP, Brazil
dc.description.affiliationUnespUniv Estadual Paulista, Fac Filosofia & Ciencias, Dept Fonoaudiol, Botucatu, SP, Brazil
dc.format.extent1133-1138
dc.identifierhttp://dx.doi.org/10.4238/vol8-3gmr621
dc.identifier.citationGenetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 8, n. 3, p. 1133-1138, 2009.
dc.identifier.doi10.4238/vol8-3gmr621
dc.identifier.fileWOS000272050000023.pdf
dc.identifier.issn1676-5680
dc.identifier.urihttp://hdl.handle.net/11449/12505
dc.identifier.wosWOS:000272050000023
dc.language.isoeng
dc.publisherFunpec-editora
dc.relation.ispartofGenetics and Molecular Research
dc.relation.ispartofsjr0,439
dc.rights.accessRightsAcesso aberto
dc.sourceWeb of Science
dc.subjectDeglutition evaluationen
dc.subjectLanguage evaluationen
dc.subjectDeglutition disordersen
dc.subjectLanguage delayen
dc.subjectPartial trisomy 9pen
dc.titleOropharyngeal dysphagia and language delay in partial trisomy 9p: case reporten
dc.typeArtigo
dcterms.licensehttp://www.geneticsmr.com/node/2
dcterms.rightsHolderFunpec-editora
dspace.entity.typePublication
unesp.author.lattes2331180822532901[6]
unesp.author.orcid0000-0002-9256-7623[5]
unesp.author.orcid0000-0001-9691-4672[6]
unesp.campusUniversidade Estadual Paulista (Unesp), Instituto de Biociências, Botucatupt
unesp.campusUniversidade Estadual Paulista (Unesp), Faculdade de Medicina, Botucatupt
unesp.departmentNeurologia, Psicologia e Psiquiatria - FMBpt
unesp.departmentGenética - IBBpt

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Botucatu - IBB - Instituto de Biociências
Botucatu - FMB - Faculdade de Medicina