Achondroplasia and Down’s Syndrome – Case Report of a Rare Association

Detalhes bibliográficos
Autor(a) principal: Santos, S
Data de Publicação: 2011
Outros Autores: Silva, T, Pinto, M
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.17/1720
Resumo: The association of achondroplasia and Down’s syndrome is very rare and only five cases have been reported in the literature so far. These two genetic alterations have overlapping features such as short stature, developmental delay or hypotonia that complicate management and follow up. We report the case of a girl that is unique since she was born from a mother with achondroplasia and a healthy father. Achondroplasia was dominantly inherited from the mother but at birth she had features of Down’s syndrome as well, confirmed later by kariotype. We review her evolution regarding physical health, cognitive problems and adaptive behavior during her eight years of life. To our knowledge this is the first report of the combination of both disorders in which the achondroplasia was inherited and not a “de novo” mutation. We address the problems resulting from the additional burden of having two disorders, and how they can be improved, aiming to help others in the future to deal with these cases.
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spelling Achondroplasia and Down’s Syndrome – Case Report of a Rare AssociationAcondroplasiaSíndrome de DownEstudo de CasoHDE PEDThe association of achondroplasia and Down’s syndrome is very rare and only five cases have been reported in the literature so far. These two genetic alterations have overlapping features such as short stature, developmental delay or hypotonia that complicate management and follow up. We report the case of a girl that is unique since she was born from a mother with achondroplasia and a healthy father. Achondroplasia was dominantly inherited from the mother but at birth she had features of Down’s syndrome as well, confirmed later by kariotype. We review her evolution regarding physical health, cognitive problems and adaptive behavior during her eight years of life. To our knowledge this is the first report of the combination of both disorders in which the achondroplasia was inherited and not a “de novo” mutation. We address the problems resulting from the additional burden of having two disorders, and how they can be improved, aiming to help others in the future to deal with these cases.Elsevier DoymaRepositório do Centro Hospitalar Universitário de Lisboa Central, EPESantos, SSilva, TPinto, M2014-03-12T17:10:30Z20112011-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/1720engRev Med Int Sindr Down. 2011;15(2):26-28info: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:RCAAP2023-03-10T09:33:04Zoai:repositorio.chlc.min-saude.pt:10400.17/1720Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:19:09.451160Repositório 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 Achondroplasia and Down’s Syndrome – Case Report of a Rare Association
title Achondroplasia and Down’s Syndrome – Case Report of a Rare Association
spellingShingle Achondroplasia and Down’s Syndrome – Case Report of a Rare Association
Santos, S
Acondroplasia
Síndrome de Down
Estudo de Caso
HDE PED
title_short Achondroplasia and Down’s Syndrome – Case Report of a Rare Association
title_full Achondroplasia and Down’s Syndrome – Case Report of a Rare Association
title_fullStr Achondroplasia and Down’s Syndrome – Case Report of a Rare Association
title_full_unstemmed Achondroplasia and Down’s Syndrome – Case Report of a Rare Association
title_sort Achondroplasia and Down’s Syndrome – Case Report of a Rare Association
author Santos, S
author_facet Santos, S
Silva, T
Pinto, M
author_role author
author2 Silva, T
Pinto, M
author2_role author
author
dc.contributor.none.fl_str_mv Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE
dc.contributor.author.fl_str_mv Santos, S
Silva, T
Pinto, M
dc.subject.por.fl_str_mv Acondroplasia
Síndrome de Down
Estudo de Caso
HDE PED
topic Acondroplasia
Síndrome de Down
Estudo de Caso
HDE PED
description The association of achondroplasia and Down’s syndrome is very rare and only five cases have been reported in the literature so far. These two genetic alterations have overlapping features such as short stature, developmental delay or hypotonia that complicate management and follow up. We report the case of a girl that is unique since she was born from a mother with achondroplasia and a healthy father. Achondroplasia was dominantly inherited from the mother but at birth she had features of Down’s syndrome as well, confirmed later by kariotype. We review her evolution regarding physical health, cognitive problems and adaptive behavior during her eight years of life. To our knowledge this is the first report of the combination of both disorders in which the achondroplasia was inherited and not a “de novo” mutation. We address the problems resulting from the additional burden of having two disorders, and how they can be improved, aiming to help others in the future to deal with these cases.
publishDate 2011
dc.date.none.fl_str_mv 2011
2011-01-01T00:00:00Z
2014-03-12T17:10:30Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.17/1720
url http://hdl.handle.net/10400.17/1720
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Rev Med Int Sindr Down. 2011;15(2):26-28
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eu_rights_str_mv openAccess
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dc.publisher.none.fl_str_mv Elsevier Doyma
publisher.none.fl_str_mv Elsevier Doyma
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reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
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