Acromicric dysplasia and hearing loss: A case report
Autor(a) principal: | |
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Data de Publicação: | 2018 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://doi.org/10.25753/BirthGrowthMJ.v27.i3.13190 |
Resumo: | Introduction: Acromicric dysplasia is an extremely rare autosomal dominant bone dysplasia characterized by progressive growth retardation, short hands and feet, mild facial dysmorphism and generalized joint limitation. Association with ear, nose and pharyngolaryngeal alterations has been previously reported. However, little is known about the otolaryngologic aspects that may accompany this disease. We pretend to raise awareness to the otolaryngologic aspects that may accompany acromicric dysplasia and to the possible interventions that improve these patients quality of life. Clinical Case: We present the case of a ten-year-old girl referred to the otorhinolaryngology consultation with complaints of progressive hearing loss. Hearing evaluation confirmed bilateral severe mixed hearing loss and the patient was successfully rehabilitated with bone-anchored hearing aids. Discussion/Conclusions: Evaluation by an otolaryngologist should be part of the management of children with bone dysplasias, especially if they present with associated symptoms, to allow an early diagnosis and proper intervention. |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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7160 |
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Acromicric dysplasia and hearing loss: A case reportDisplasia acromícrica e alterações auditivas: a propósito de um caso clínicoCase ReportsIntroduction: Acromicric dysplasia is an extremely rare autosomal dominant bone dysplasia characterized by progressive growth retardation, short hands and feet, mild facial dysmorphism and generalized joint limitation. Association with ear, nose and pharyngolaryngeal alterations has been previously reported. However, little is known about the otolaryngologic aspects that may accompany this disease. We pretend to raise awareness to the otolaryngologic aspects that may accompany acromicric dysplasia and to the possible interventions that improve these patients quality of life. Clinical Case: We present the case of a ten-year-old girl referred to the otorhinolaryngology consultation with complaints of progressive hearing loss. Hearing evaluation confirmed bilateral severe mixed hearing loss and the patient was successfully rehabilitated with bone-anchored hearing aids. Discussion/Conclusions: Evaluation by an otolaryngologist should be part of the management of children with bone dysplasias, especially if they present with associated symptoms, to allow an early diagnosis and proper intervention.Introdução: A displasia acromícrica é uma displasia óssea extremamente rara, de transmissão autossómica dominante, caracterizada por atraso progressivo do crescimento, mãos e pés curtos, dismorfismo facial ligeiro e limitação generalizada do movimento das articulações. A associação com alterações nos ouvidos, nariz, faringe e laringe foi descrita em estudos prévios. No entanto, pouco se sabe sobre os aspectos otorrinolaringológicos que podem acompanhar esta doença. Pretende-se sensibilizar para os aspectos otorrinolaringológicos que podem acompanhar a displasia acromícrica e para as possíveis intervenções que melhoram a qualidade de vida destes doentes. Caso Clínico: Apresentamos o caso de uma criança do sexo feminino, de dez anos de idade, referenciada à consulta de otorrinolaringologia por noção de diminuição progressiva da audição. A avaliação auditiva confirmou a existência de uma hipoacusia de mista severa bilateral e a doente foi reabilitada com sucesso com um implante osteointegrado. Discussão/Conclusões: A observação por um otorrinolaringologista deve fazer parte da avaliação de crianças com displasias ósseas, especialmente se apresentam sintomas associados, para permitir um diagnóstico precoce e uma intervenção adequada.Centro Hospitalar Universitário do Porto2018-10-17T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://doi.org/10.25753/BirthGrowthMJ.v27.i3.13190eng2183-9417Pinto, Ana NóbregaCoutinho, Miguel BebianoSoares, TeresaSousa, Cecília Almeidainfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2022-09-21T14:55:28Zoai:ojs.revistas.rcaap.pt:article/13190Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T15:56:25.573645Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Acromicric dysplasia and hearing loss: A case report Displasia acromícrica e alterações auditivas: a propósito de um caso clínico |
title |
Acromicric dysplasia and hearing loss: A case report |
spellingShingle |
Acromicric dysplasia and hearing loss: A case report Pinto, Ana Nóbrega Case Reports |
title_short |
Acromicric dysplasia and hearing loss: A case report |
title_full |
Acromicric dysplasia and hearing loss: A case report |
title_fullStr |
Acromicric dysplasia and hearing loss: A case report |
title_full_unstemmed |
Acromicric dysplasia and hearing loss: A case report |
title_sort |
Acromicric dysplasia and hearing loss: A case report |
author |
Pinto, Ana Nóbrega |
author_facet |
Pinto, Ana Nóbrega Coutinho, Miguel Bebiano Soares, Teresa Sousa, Cecília Almeida |
author_role |
author |
author2 |
Coutinho, Miguel Bebiano Soares, Teresa Sousa, Cecília Almeida |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Pinto, Ana Nóbrega Coutinho, Miguel Bebiano Soares, Teresa Sousa, Cecília Almeida |
dc.subject.por.fl_str_mv |
Case Reports |
topic |
Case Reports |
description |
Introduction: Acromicric dysplasia is an extremely rare autosomal dominant bone dysplasia characterized by progressive growth retardation, short hands and feet, mild facial dysmorphism and generalized joint limitation. Association with ear, nose and pharyngolaryngeal alterations has been previously reported. However, little is known about the otolaryngologic aspects that may accompany this disease. We pretend to raise awareness to the otolaryngologic aspects that may accompany acromicric dysplasia and to the possible interventions that improve these patients quality of life. Clinical Case: We present the case of a ten-year-old girl referred to the otorhinolaryngology consultation with complaints of progressive hearing loss. Hearing evaluation confirmed bilateral severe mixed hearing loss and the patient was successfully rehabilitated with bone-anchored hearing aids. Discussion/Conclusions: Evaluation by an otolaryngologist should be part of the management of children with bone dysplasias, especially if they present with associated symptoms, to allow an early diagnosis and proper intervention. |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018-10-17T00:00:00Z |
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 |
https://doi.org/10.25753/BirthGrowthMJ.v27.i3.13190 |
url |
https://doi.org/10.25753/BirthGrowthMJ.v27.i3.13190 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
2183-9417 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.publisher.none.fl_str_mv |
Centro Hospitalar Universitário do Porto |
publisher.none.fl_str_mv |
Centro Hospitalar Universitário do Porto |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
|
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1799130432593199104 |