Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters

Detalhes bibliográficos
Autor(a) principal: Sousa, SB
Data de Publicação: 2014
Outros Autores: Ramos, F, Garcia, P, Pais, RP, Paiva, C, Beales, PL, Moore, GE, Saraiva, JM, Hennekam, RC
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.4/1925
Resumo: We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features include increased thickness of the cranial vault, delayed dental eruption, talipes equino-varus, clinodactyly, and camptodactyly of the fifth finger. The older sister has retinal dystrophy and the younger sister has short stature. Their parents are consanguineous. We suggest this condition constitutes a previously unreported autosomal recessive entity.
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spelling Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sistersCerebeloPerturbações do DesenvolvimentoOssos FaciaisDeficiência IntelectualMegalencefaliaMalformações do Sistema NervosoIrmãosWe report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features include increased thickness of the cranial vault, delayed dental eruption, talipes equino-varus, clinodactyly, and camptodactyly of the fifth finger. The older sister has retinal dystrophy and the younger sister has short stature. Their parents are consanguineous. We suggest this condition constitutes a previously unreported autosomal recessive entity.RIHUCSousa, SBRamos, FGarcia, PPais, RPPaiva, CBeales, PLMoore, GESaraiva, JMHennekam, RC2016-05-12T10:39:48Z2014-012014-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.4/1925engAm J Med Genet A. 2014 Jan;164A(1):10-4.info: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:RCAAP2023-07-11T14:23:13Zoai:rihuc.huc.min-saude.pt:10400.4/1925Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:04:22.438233Repositório 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 Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters
title Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters
spellingShingle Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters
Sousa, SB
Cerebelo
Perturbações do Desenvolvimento
Ossos Faciais
Deficiência Intelectual
Megalencefalia
Malformações do Sistema Nervoso
Irmãos
title_short Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters
title_full Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters
title_fullStr Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters
title_full_unstemmed Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters
title_sort Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters
author Sousa, SB
author_facet Sousa, SB
Ramos, F
Garcia, P
Pais, RP
Paiva, C
Beales, PL
Moore, GE
Saraiva, JM
Hennekam, RC
author_role author
author2 Ramos, F
Garcia, P
Pais, RP
Paiva, C
Beales, PL
Moore, GE
Saraiva, JM
Hennekam, RC
author2_role author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv RIHUC
dc.contributor.author.fl_str_mv Sousa, SB
Ramos, F
Garcia, P
Pais, RP
Paiva, C
Beales, PL
Moore, GE
Saraiva, JM
Hennekam, RC
dc.subject.por.fl_str_mv Cerebelo
Perturbações do Desenvolvimento
Ossos Faciais
Deficiência Intelectual
Megalencefalia
Malformações do Sistema Nervoso
Irmãos
topic Cerebelo
Perturbações do Desenvolvimento
Ossos Faciais
Deficiência Intelectual
Megalencefalia
Malformações do Sistema Nervoso
Irmãos
description We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features include increased thickness of the cranial vault, delayed dental eruption, talipes equino-varus, clinodactyly, and camptodactyly of the fifth finger. The older sister has retinal dystrophy and the younger sister has short stature. Their parents are consanguineous. We suggest this condition constitutes a previously unreported autosomal recessive entity.
publishDate 2014
dc.date.none.fl_str_mv 2014-01
2014-01-01T00:00:00Z
2016-05-12T10:39:48Z
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 http://hdl.handle.net/10400.4/1925
url http://hdl.handle.net/10400.4/1925
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Am J Med Genet A. 2014 Jan;164A(1):10-4.
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
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
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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)
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
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