Author(s):
Rossi, N. F. [UNESP] ; Gatto, A. R. [UNESP] ; Cola, P. C. [UNESP] ; Souza, D. H. [UNESP] ; Moretti-Ferreira, D. [UNESP] ; Giacheti, C. M. [UNESP]
Date: 2014
Persistent ID: http://hdl.handle.net/11449/12505
Origin: Oasisbr
Subject(s): Deglutition evaluation; Language evaluation; Deglutition disorders; Language delay; Partial trisomy 9p; Deglutition evaluation; Deglutition evaluation; Language evaluation; Language evaluation; Deglutition disorders; Deglutition disorders; Language delay; Language delay; Partial trisomy 9p; Partial trisomy 9p
Description
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Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-20T13:36:19Z No. of bitstreams: 1 WOS000272050000023.pdf: 611220 bytes, checksum: 9e8dcebe067d13df48dc057902509bef (MD5)
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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.
Univ Estadual Paulista, Dept Genet, Inst Biociencias, Botucatu, SP, Brazil
Univ Estadual Paulista, Fac Med, Dept Neurol, Botucatu, SP, Brazil
Univ Estadual Paulista, Fac Med, Dept Cirurgia, Botucatu, SP, Brazil
Univ Estadual Paulista, Fac Filosofia & Ciencias, Dept Fonoaudiol, Botucatu, SP, Brazil
Univ Estadual Paulista, Dept Genet, Inst Biociencias, Botucatu, SP, Brazil
Univ Estadual Paulista, Fac Med, Dept Neurol, Botucatu, SP, Brazil
Univ Estadual Paulista, Fac Med, Dept Cirurgia, Botucatu, SP, Brazil
Univ Estadual Paulista, Fac Filosofia & Ciencias, Dept Fonoaudiol, Botucatu, SP, Brazil
