Barber-Say syndrome: further delineation of the clinical spectrum

Detalhes bibliográficos
Autor(a) principal: Cortés,Fanny M.
Data de Publicação: 2000
Outros Autores: Troncoso,Ledia A., Alliende,Angélica R., Curotto,Bianca L.
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200003
Resumo: We report on a 14-year-old girl who presented a multiple congenital anomaly pattern: ablepharon, hypertelorism, telecanthus, macrostomia, helix agenesis of both ears, redundant thick skin and severe hirsutism, the 5th reported case of Barber-Say syndrome. Our patient had almost the same phenotype as that of the patient cited by Martínez Santana et al. (Am. J. Med. Genet. 47: 20-23, 1993) including the same until then undescribed dermatoglyphic pattern.
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spelling Barber-Say syndrome: further delineation of the clinical spectrumWe report on a 14-year-old girl who presented a multiple congenital anomaly pattern: ablepharon, hypertelorism, telecanthus, macrostomia, helix agenesis of both ears, redundant thick skin and severe hirsutism, the 5th reported case of Barber-Say syndrome. Our patient had almost the same phenotype as that of the patient cited by Martínez Santana et al. (Am. J. Med. Genet. 47: 20-23, 1993) including the same until then undescribed dermatoglyphic pattern.Sociedade Brasileira de Genética2000-06-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200003Genetics and Molecular Biology v.23 n.2 2000reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572000000200003info:eu-repo/semantics/openAccessCortés,Fanny M.Troncoso,Ledia A.Alliende,Angélica R.Curotto,Bianca L.eng2000-09-22T00:00:00Zoai:scielo:S1415-47572000000200003Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2000-09-22T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv Barber-Say syndrome: further delineation of the clinical spectrum
title Barber-Say syndrome: further delineation of the clinical spectrum
spellingShingle Barber-Say syndrome: further delineation of the clinical spectrum
Cortés,Fanny M.
title_short Barber-Say syndrome: further delineation of the clinical spectrum
title_full Barber-Say syndrome: further delineation of the clinical spectrum
title_fullStr Barber-Say syndrome: further delineation of the clinical spectrum
title_full_unstemmed Barber-Say syndrome: further delineation of the clinical spectrum
title_sort Barber-Say syndrome: further delineation of the clinical spectrum
author Cortés,Fanny M.
author_facet Cortés,Fanny M.
Troncoso,Ledia A.
Alliende,Angélica R.
Curotto,Bianca L.
author_role author
author2 Troncoso,Ledia A.
Alliende,Angélica R.
Curotto,Bianca L.
author2_role author
author
author
dc.contributor.author.fl_str_mv Cortés,Fanny M.
Troncoso,Ledia A.
Alliende,Angélica R.
Curotto,Bianca L.
description We report on a 14-year-old girl who presented a multiple congenital anomaly pattern: ablepharon, hypertelorism, telecanthus, macrostomia, helix agenesis of both ears, redundant thick skin and severe hirsutism, the 5th reported case of Barber-Say syndrome. Our patient had almost the same phenotype as that of the patient cited by Martínez Santana et al. (Am. J. Med. Genet. 47: 20-23, 1993) including the same until then undescribed dermatoglyphic pattern.
publishDate 2000
dc.date.none.fl_str_mv 2000-06-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200003
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200003
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47572000000200003
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Genetics and Molecular Biology v.23 n.2 2000
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
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instname_str Sociedade Brasileira de Genética (SBG)
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reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
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