Hypotonia: A Clinical Sign, Different Etiologies

Bibliographic Details
Main Author: Esteireiro, Ana Sofia
Publication Date: 2020
Other Authors: Amaro, Catarina Abreu, Barradas, Pedro, Palavra, Filipe, Fineza, Isabel
Format: Article
Language: eng
Source: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Download full: https://doi.org/10.25754/pjp.2020.18651
Summary: Hypotonia is a nonspecific sign with many possible underlying aetiologies. The clinical history and neurological examination are vital, providing clues to a methodical and systematic investigation. It is essential to accomplish an early etiological diagnosis to implement adequate therapy (when available), establish prognosis and offer genetic counselling.  The authors present two clinical cases that reflect the diagnostic challenge in evaluating a newborn or infant with hypotonia.
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spelling Hypotonia: A Clinical Sign, Different EtiologiesCase reportsHypotonia is a nonspecific sign with many possible underlying aetiologies. The clinical history and neurological examination are vital, providing clues to a methodical and systematic investigation. It is essential to accomplish an early etiological diagnosis to implement adequate therapy (when available), establish prognosis and offer genetic counselling.  The authors present two clinical cases that reflect the diagnostic challenge in evaluating a newborn or infant with hypotonia.Sociedade Portuguesa de Pediatria2020-07-09info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://doi.org/10.25754/pjp.2020.18651eng2184-44532184-3333Esteireiro, Ana SofiaAmaro, Catarina AbreuBarradas, PedroPalavra, FilipeFineza, Isabelinfo:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2024-05-06T15:12:23Zoai:ojs.revistas.rcaap.pt:article/18651Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T14:38:40.599168Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Hypotonia: A Clinical Sign, Different Etiologies
title Hypotonia: A Clinical Sign, Different Etiologies
spellingShingle Hypotonia: A Clinical Sign, Different Etiologies
Esteireiro, Ana Sofia
Case reports
title_short Hypotonia: A Clinical Sign, Different Etiologies
title_full Hypotonia: A Clinical Sign, Different Etiologies
title_fullStr Hypotonia: A Clinical Sign, Different Etiologies
title_full_unstemmed Hypotonia: A Clinical Sign, Different Etiologies
title_sort Hypotonia: A Clinical Sign, Different Etiologies
author Esteireiro, Ana Sofia
author_facet Esteireiro, Ana Sofia
Amaro, Catarina Abreu
Barradas, Pedro
Palavra, Filipe
Fineza, Isabel
author_role author
author2 Amaro, Catarina Abreu
Barradas, Pedro
Palavra, Filipe
Fineza, Isabel
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Esteireiro, Ana Sofia
Amaro, Catarina Abreu
Barradas, Pedro
Palavra, Filipe
Fineza, Isabel
dc.subject.por.fl_str_mv Case reports
topic Case reports
description Hypotonia is a nonspecific sign with many possible underlying aetiologies. The clinical history and neurological examination are vital, providing clues to a methodical and systematic investigation. It is essential to accomplish an early etiological diagnosis to implement adequate therapy (when available), establish prognosis and offer genetic counselling.  The authors present two clinical cases that reflect the diagnostic challenge in evaluating a newborn or infant with hypotonia.
publishDate 2020
dc.date.none.fl_str_mv 2020-07-09
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/10.25754/pjp.2020.18651
url https://doi.org/10.25754/pjp.2020.18651
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2184-4453
2184-3333
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Sociedade Portuguesa de Pediatria
publisher.none.fl_str_mv Sociedade Portuguesa de Pediatria
dc.source.none.fl_str_mv reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron:RCAAP
instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
repository.mail.fl_str_mv info@rcaap.pt
_version_ 1833594783872843776

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