Aarskog syndrome: a case report
Autor(a) principal: | |
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Data de Publicação: | 2024 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Journal of Health & Biological Sciences |
Texto Completo: | https://periodicos.unichristus.edu.br/jhbs/article/view/5116 |
Resumo: | Introduction: Aarskog-Scott Syndrome (AAS) is a rare faciogenital dysplasia linked to the FGD1 gene, primarily affecting boys. Case report: We describe a case of a 4-year-old boy with AAS, highlighting its scientific importance due to its rarity, scarcity of descriptions, and associated morbidity. He presented with sacral cleft, bilateral cryptorchidism, growth delays, and similar family history. AAS is characterized by short stature, facial anomalies, and various impairments. Final considerations: This case underscores the importance of specialized medical care, and the scarcity of comparable studies highlights the relevance of case reports in deepening the understanding of unique clinical conditions. |
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Aarskog syndrome: a case reportSíndrome de Aarskog: um relato de casosíndrome de AarskogScottmutação genéticaIntroduction: Aarskog-Scott Syndrome (AAS) is a rare faciogenital dysplasia linked to the FGD1 gene, primarily affecting boys. Case report: We describe a case of a 4-year-old boy with AAS, highlighting its scientific importance due to its rarity, scarcity of descriptions, and associated morbidity. He presented with sacral cleft, bilateral cryptorchidism, growth delays, and similar family history. AAS is characterized by short stature, facial anomalies, and various impairments. Final considerations: This case underscores the importance of specialized medical care, and the scarcity of comparable studies highlights the relevance of case reports in deepening the understanding of unique clinical conditions.Introdução: A Síndrome de Aarskog-Scott (AAS) é uma rara displasia faciogenital ligada ao gene FGD1, afetando principalmente meninos. Relato de caso: Descreve-se um caso de um menino de 4 anos com AAS, destacando sua importância científica devido à raridade, escassez de descrições e morbidade associada. Ele apresentou fenda sacral, criptorquidia bilateral, atrasos no crescimento e histórico familiar semelhante. A AAS é caracterizada por estatura baixa, anomalias faciais e diversos comprometimentos. Este caso ressalta a importância do acompanhamento médico especializado. Considerações finais: A escassez de estudos comparáveis destaca a relevância dos relatos de casos para aprofundar a compreensão de condições clínicas singulares.UNICHRISTUS2024-04-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionPeer ReviewRevisado por paresAvaliado por Paresapplication/pdfhttps://periodicos.unichristus.edu.br/jhbs/article/view/511610.12662/2317-3076jhbs.v12i1.5116.p1-4.2024Journal of Health & Biological Sciences; Vol. 12 No. 1 (2024): Journal of Health and Biological Sciences; 1-4Journal of Health and Biological Sciences; Vol. 12 Núm. 1 (2024): Journal of Health and Biological Sciences; 1-4Journal of Health & Biological Sciences; v. 12 n. 1 (2024): Journal of Health and Biological Sciences; 1-42317-30762317-308410.12662/2317-3076jhbs.v12i1.2024reponame:Journal of Health & Biological Sciencesinstname:Centro Universitário Christus (Unichristus)instacron:CHRISTUSporhttps://periodicos.unichristus.edu.br/jhbs/article/view/5116/1884Copyright (c) 2024 Journal of Health & Biological Scienceshttp://creativecommons.org/licenses/by-nc-sa/4.0info:eu-repo/semantics/openAccessLetícia TeixeiraVitor Lucas Lopes BragaEllen Mourão Soares LopesWallace William da Silva MeirelesKalina Lívia Lopes CarneiroAndré Luiz Santos PessoaErlane Marques Ribeiro2024-04-01T21:27:46Zoai:ojs.emnuvens.com.br:article/5116Revistahttps://periodicos.unichristus.edu.br/jhbs/indexPRIhttps://periodicos.unichristus.edu.br/jhbs/oaisecretaria.jhbs@unichristus.edu.br || editor.jhbs@fchristus.edu.br2317-30762317-3084opendoar:2024-04-01T21:27:46Journal of Health & Biological Sciences - Centro Universitário Christus (Unichristus)false |
dc.title.none.fl_str_mv |
Aarskog syndrome: a case report Síndrome de Aarskog: um relato de caso |
title |
Aarskog syndrome: a case report |
spellingShingle |
Aarskog syndrome: a case report Letícia Teixeira síndrome de Aarskog Scott mutação genética |
title_short |
Aarskog syndrome: a case report |
title_full |
Aarskog syndrome: a case report |
title_fullStr |
Aarskog syndrome: a case report |
title_full_unstemmed |
Aarskog syndrome: a case report |
title_sort |
Aarskog syndrome: a case report |
author |
Letícia Teixeira |
author_facet |
Letícia Teixeira Vitor Lucas Lopes Braga Ellen Mourão Soares Lopes Wallace William da Silva Meireles Kalina Lívia Lopes Carneiro André Luiz Santos Pessoa Erlane Marques Ribeiro |
author_role |
author |
author2 |
Vitor Lucas Lopes Braga Ellen Mourão Soares Lopes Wallace William da Silva Meireles Kalina Lívia Lopes Carneiro André Luiz Santos Pessoa Erlane Marques Ribeiro |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Letícia Teixeira Vitor Lucas Lopes Braga Ellen Mourão Soares Lopes Wallace William da Silva Meireles Kalina Lívia Lopes Carneiro André Luiz Santos Pessoa Erlane Marques Ribeiro |
dc.subject.por.fl_str_mv |
síndrome de Aarskog Scott mutação genética |
topic |
síndrome de Aarskog Scott mutação genética |
description |
Introduction: Aarskog-Scott Syndrome (AAS) is a rare faciogenital dysplasia linked to the FGD1 gene, primarily affecting boys. Case report: We describe a case of a 4-year-old boy with AAS, highlighting its scientific importance due to its rarity, scarcity of descriptions, and associated morbidity. He presented with sacral cleft, bilateral cryptorchidism, growth delays, and similar family history. AAS is characterized by short stature, facial anomalies, and various impairments. Final considerations: This case underscores the importance of specialized medical care, and the scarcity of comparable studies highlights the relevance of case reports in deepening the understanding of unique clinical conditions. |
publishDate |
2024 |
dc.date.none.fl_str_mv |
2024-04-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Peer Review Revisado por pares Avaliado por Pares |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://periodicos.unichristus.edu.br/jhbs/article/view/5116 10.12662/2317-3076jhbs.v12i1.5116.p1-4.2024 |
url |
https://periodicos.unichristus.edu.br/jhbs/article/view/5116 |
identifier_str_mv |
10.12662/2317-3076jhbs.v12i1.5116.p1-4.2024 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://periodicos.unichristus.edu.br/jhbs/article/view/5116/1884 |
dc.rights.driver.fl_str_mv |
Copyright (c) 2024 Journal of Health & Biological Sciences http://creativecommons.org/licenses/by-nc-sa/4.0 info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Copyright (c) 2024 Journal of Health & Biological Sciences http://creativecommons.org/licenses/by-nc-sa/4.0 |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
UNICHRISTUS |
publisher.none.fl_str_mv |
UNICHRISTUS |
dc.source.none.fl_str_mv |
Journal of Health & Biological Sciences; Vol. 12 No. 1 (2024): Journal of Health and Biological Sciences; 1-4 Journal of Health and Biological Sciences; Vol. 12 Núm. 1 (2024): Journal of Health and Biological Sciences; 1-4 Journal of Health & Biological Sciences; v. 12 n. 1 (2024): Journal of Health and Biological Sciences; 1-4 2317-3076 2317-3084 10.12662/2317-3076jhbs.v12i1.2024 reponame:Journal of Health & Biological Sciences instname:Centro Universitário Christus (Unichristus) instacron:CHRISTUS |
instname_str |
Centro Universitário Christus (Unichristus) |
instacron_str |
CHRISTUS |
institution |
CHRISTUS |
reponame_str |
Journal of Health & Biological Sciences |
collection |
Journal of Health & Biological Sciences |
repository.name.fl_str_mv |
Journal of Health & Biological Sciences - Centro Universitário Christus (Unichristus) |
repository.mail.fl_str_mv |
secretaria.jhbs@unichristus.edu.br || editor.jhbs@fchristus.edu.br |
_version_ |
1797052854170550272 |