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

dc.contributorUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-20T13:36:19Z
dc.date.available2014-05-20T13:36:19Z
dc.date.created2014-05-20T13:36:19Z
dc.date.issued2009-01-01
dc.identifierGenetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 8, n. 3, p. 1133-1138, 2009.
dc.identifier1676-5680
dc.identifierhttp://hdl.handle.net/11449/12505
dc.identifier10.4238/vol8-3gmr621
dc.identifierWOS:000272050000023
dc.identifierWOS000272050000023.pdf
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.
dc.languageeng
dc.publisherFunpec-editora
dc.relationGenetics and Molecular Research
dc.relation0,439
dc.rightsAcesso aberto
dc.sourceWeb of Science
dc.subjectDeglutition evaluation
dc.subjectLanguage evaluation
dc.subjectDeglutition disorders
dc.subjectLanguage delay
dc.subjectPartial trisomy 9p
dc.titleOropharyngeal dysphagia and language delay in partial trisomy 9p: case report
dc.typeArtículos de revistas


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