Oropharyngeal dysphagia and language delay in partial trisomy 9p: case report
Autor(a) principal: | |
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Data de Publicação: | 2009 |
Outros Autores: | , , , , |
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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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/openAccess2024-08-16T15:46:27Zoai:repositorio.unesp.br:11449/12505Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-16T15:46:27Repositório 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_ |
1808128213319155712 |