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

Detalhes bibliográficos
Autor(a) principal: Rossi, N. F. [UNESP]
Data de Publicação: 2009
Outros Autores: Gatto, A. R. [UNESP], Cola, P. C. [UNESP], Souza, D. H. [UNESP], Moretti-Ferreira, D. [UNESP], Giacheti, C. M. [UNESP]
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNESP
Texto Completo: http://dx.doi.org/10.4238/vol8-3gmr621
http://hdl.handle.net/11449/12505
Resumo: The 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.
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spelling Oropharyngeal dysphagia and language delay in partial trisomy 9p: case reportDeglutition evaluationLanguage evaluationDeglutition disordersLanguage delayPartial trisomy 9pThe 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.Univ Estadual Paulista, Dept Genet, Inst Biociencias, Botucatu, SP, BrazilUniv Estadual Paulista, Fac Med, Dept Neurol, Botucatu, SP, BrazilUniv Estadual Paulista, Fac Med, Dept Cirurgia, Botucatu, SP, BrazilUniv Estadual Paulista, Fac Filosofia & Ciencias, Dept Fonoaudiol, Botucatu, SP, BrazilUniv Estadual Paulista, Dept Genet, Inst Biociencias, Botucatu, SP, BrazilUniv Estadual Paulista, Fac Med, Dept Neurol, Botucatu, SP, BrazilUniv Estadual Paulista, Fac Med, Dept Cirurgia, Botucatu, SP, BrazilUniv Estadual Paulista, Fac Filosofia & Ciencias, Dept Fonoaudiol, Botucatu, SP, BrazilFunpec-editoraUniversidade Estadual Paulista (Unesp)Rossi, N. F. [UNESP]Gatto, A. R. [UNESP]Cola, P. C. [UNESP]Souza, D. H. [UNESP]Moretti-Ferreira, D. [UNESP]Giacheti, C. M. [UNESP]2014-05-20T13:36:19Z2014-05-20T13:36:19Z2009-01-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article1133-1138application/pdfhttp://dx.doi.org/10.4238/vol8-3gmr621Genetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 8, n. 3, p. 1133-1138, 2009.1676-5680http://hdl.handle.net/11449/1250510.4238/vol8-3gmr621WOS:000272050000023WOS000272050000023.pdfWeb of Sciencereponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengGenetics and Molecular Research0,439info:eu-repo/semantics/openAccess2024-01-25T06:36:11Zoai:repositorio.unesp.br:11449/12505Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-01-25T06:36:11Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false
dc.title.none.fl_str_mv Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
title Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
spellingShingle Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
Rossi, N. F. [UNESP]
Deglutition evaluation
Language evaluation
Deglutition disorders
Language delay
Partial trisomy 9p
title_short Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
title_full Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
title_fullStr Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
title_full_unstemmed Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
title_sort Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
author Rossi, N. F. [UNESP]
author_facet Rossi, N. F. [UNESP]
Gatto, A. R. [UNESP]
Cola, P. C. [UNESP]
Souza, D. H. [UNESP]
Moretti-Ferreira, D. [UNESP]
Giacheti, C. M. [UNESP]
author_role author
author2 Gatto, A. R. [UNESP]
Cola, P. C. [UNESP]
Souza, D. H. [UNESP]
Moretti-Ferreira, D. [UNESP]
Giacheti, C. M. [UNESP]
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade Estadual Paulista (Unesp)
dc.contributor.author.fl_str_mv Rossi, N. F. [UNESP]
Gatto, A. R. [UNESP]
Cola, P. C. [UNESP]
Souza, D. H. [UNESP]
Moretti-Ferreira, D. [UNESP]
Giacheti, C. M. [UNESP]
dc.subject.por.fl_str_mv Deglutition evaluation
Language evaluation
Deglutition disorders
Language delay
Partial trisomy 9p
topic Deglutition evaluation
Language evaluation
Deglutition disorders
Language delay
Partial trisomy 9p
description The 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.
publishDate 2009
dc.date.none.fl_str_mv 2009-01-01
2014-05-20T13:36:19Z
2014-05-20T13:36:19Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.4238/vol8-3gmr621
Genetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 8, n. 3, p. 1133-1138, 2009.
1676-5680
http://hdl.handle.net/11449/12505
10.4238/vol8-3gmr621
WOS:000272050000023
WOS000272050000023.pdf
url http://dx.doi.org/10.4238/vol8-3gmr621
http://hdl.handle.net/11449/12505
identifier_str_mv Genetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 8, n. 3, p. 1133-1138, 2009.
1676-5680
10.4238/vol8-3gmr621
WOS:000272050000023
WOS000272050000023.pdf
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Genetics and Molecular Research
0,439
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 1133-1138
application/pdf
dc.publisher.none.fl_str_mv Funpec-editora
publisher.none.fl_str_mv Funpec-editora
dc.source.none.fl_str_mv Web of Science
reponame:Repositório Institucional da UNESP
instname:Universidade Estadual Paulista (UNESP)
instacron:UNESP
instname_str Universidade Estadual Paulista (UNESP)
instacron_str UNESP
institution UNESP
reponame_str Repositório Institucional da UNESP
collection Repositório Institucional da UNESP
repository.name.fl_str_mv Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)
repository.mail.fl_str_mv
_version_ 1797790396869246976

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