Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.
Int J Pediatr Otorhinolaryngol
; 97: 228-234, 2017 Jun.
Article
em En
| MEDLINE
| ID: mdl-28483241
ABSTRACT
Existing literature only reports a few patients with Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) who underwent cochlear implantation (CI). The present study describes four NS patients and one NSML patient with a PTPN11 mutation. They all had severe to profound hearing loss, and they received a CI. The age at which the CI surgery occurred ranged from 1 to 13 years old, and the audiological results in all five patients improved after the CI. Otological and audiological examinations in NS and NSML are important, and for those with severe hearing loss, the CI surgery improved the audiological outcome regardless of age.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Implante Coclear
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Síndrome LEOPARD
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Proteína Tirosina Fosfatase não Receptora Tipo 11
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Perda Auditiva
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Síndrome de Noonan
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
Limite:
Adolescent
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article