Risk factors for Microtia and preventive approaches
Autor(a) principal: | |
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Data de Publicação: | 2023 |
Outros Autores: | |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Sapienza (Curitiba) |
Texto Completo: | https://journals.sapienzaeditorial.com/index.php/SIJIS/article/view/707 |
Resumo: | Microtia is a congenital anomaly that directly affects the external ear. Although the etiology of this pathology is not fully elucidated, there are several factors that are associated with its occurrence, such as genetics, perinatal and maternal conditions. During organogenesis of the outer ear it is important to mention that as anomalies occur before the sixth week of pregnancy, the chances of severe defects or total absence of the outer ear increase. At the genetic level, the etiology of microtia has been related to multiple causes, as well as the identification of genes involved in allelic expression pathways and transcription factors. Furthermore, this anomaly does not always occur alone, but associated with other pathologies such as cleft palate (12.8%), cleft lip and palate (11.5%), anophthalmia/microphthalmia (11.5%), facial asymmetry (10.6%), as well as oculoauriculovertebral spectrum syndromes, Goldenhar syndrome, craniofacial microsomia, Treacher Collins syndrome, Nager, DiGeorge or 22q deletion, Townes-Brock syndrome and branchi oto-renal syndrome. Treatments are based on the aesthetic management of the patient, but also related to the improvement of the patient's hearing ability. Epidemiologically, the prevalence ranges from 0.8 to 17.5 per 10,000 live births. One of the main risk factors for variation in case identification is altitude, genetics and maternal-perinatal factors. This literature review provides a thorough analysis of information for the better understanding, analysis and clinical management of this congenital anomaly. |
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Risk factors for Microtia and preventive approachesMicrotiagenetic causesanomaliesMicrotia is a congenital anomaly that directly affects the external ear. Although the etiology of this pathology is not fully elucidated, there are several factors that are associated with its occurrence, such as genetics, perinatal and maternal conditions. During organogenesis of the outer ear it is important to mention that as anomalies occur before the sixth week of pregnancy, the chances of severe defects or total absence of the outer ear increase. At the genetic level, the etiology of microtia has been related to multiple causes, as well as the identification of genes involved in allelic expression pathways and transcription factors. Furthermore, this anomaly does not always occur alone, but associated with other pathologies such as cleft palate (12.8%), cleft lip and palate (11.5%), anophthalmia/microphthalmia (11.5%), facial asymmetry (10.6%), as well as oculoauriculovertebral spectrum syndromes, Goldenhar syndrome, craniofacial microsomia, Treacher Collins syndrome, Nager, DiGeorge or 22q deletion, Townes-Brock syndrome and branchi oto-renal syndrome. Treatments are based on the aesthetic management of the patient, but also related to the improvement of the patient's hearing ability. Epidemiologically, the prevalence ranges from 0.8 to 17.5 per 10,000 live births. One of the main risk factors for variation in case identification is altitude, genetics and maternal-perinatal factors. This literature review provides a thorough analysis of information for the better understanding, analysis and clinical management of this congenital anomaly.Sapienza Grupo Editorial2023-09-30info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://journals.sapienzaeditorial.com/index.php/SIJIS/article/view/70710.51798/sijis.v4iSI1.707Sapienza: International Journal of Interdisciplinary Studies; Vol. 4 No. SI1 (2023): Special Issue: Interdisciplinary Studies in Health Sciences; e23046Sapienza: International Journal of Interdisciplinary Studies; Vol. 4 Núm. SI1 (2023): Special Issue: Interdisciplinary Studies in Health Sciences; e23046Sapienza: International Journal of Interdisciplinary Studies; v. 4 n. SI1 (2023): Special Issue: Interdisciplinary Studies in Health Sciences; e230462675-9780reponame:Sapienza (Curitiba)instname:Sapienza Grupo Editorialinstacron:SAPIENZAenghttps://journals.sapienzaeditorial.com/index.php/SIJIS/article/view/707/505Copyright (c) 2023 Sheyla Teresa Navas Llanos, Carmen Barba Guzmán Variñahttps://creativecommons.org/licenses/by-nc-nd/4.0info:eu-repo/semantics/openAccessNavas Llanos, Sheyla Teresa Guzmán Variña, Carmen Barba2023-11-22T16:08:13Zoai:ojs2.journals.sapienzaeditorial.com:article/707Revistahttps://journals.sapienzaeditorial.com/index.php/SIJISPRIhttps://journals.sapienzaeditorial.com/index.php/SIJIS/oaieditor@sapienzaeditorial.com2675-97802675-9780opendoar:2023-11-22T16:08:13Sapienza (Curitiba) - Sapienza Grupo Editorialfalse |
dc.title.none.fl_str_mv |
Risk factors for Microtia and preventive approaches |
title |
Risk factors for Microtia and preventive approaches |
spellingShingle |
Risk factors for Microtia and preventive approaches Navas Llanos, Sheyla Teresa Microtia genetic causes anomalies |
title_short |
Risk factors for Microtia and preventive approaches |
title_full |
Risk factors for Microtia and preventive approaches |
title_fullStr |
Risk factors for Microtia and preventive approaches |
title_full_unstemmed |
Risk factors for Microtia and preventive approaches |
title_sort |
Risk factors for Microtia and preventive approaches |
author |
Navas Llanos, Sheyla Teresa |
author_facet |
Navas Llanos, Sheyla Teresa Guzmán Variña, Carmen Barba |
author_role |
author |
author2 |
Guzmán Variña, Carmen Barba |
author2_role |
author |
dc.contributor.author.fl_str_mv |
Navas Llanos, Sheyla Teresa Guzmán Variña, Carmen Barba |
dc.subject.por.fl_str_mv |
Microtia genetic causes anomalies |
topic |
Microtia genetic causes anomalies |
description |
Microtia is a congenital anomaly that directly affects the external ear. Although the etiology of this pathology is not fully elucidated, there are several factors that are associated with its occurrence, such as genetics, perinatal and maternal conditions. During organogenesis of the outer ear it is important to mention that as anomalies occur before the sixth week of pregnancy, the chances of severe defects or total absence of the outer ear increase. At the genetic level, the etiology of microtia has been related to multiple causes, as well as the identification of genes involved in allelic expression pathways and transcription factors. Furthermore, this anomaly does not always occur alone, but associated with other pathologies such as cleft palate (12.8%), cleft lip and palate (11.5%), anophthalmia/microphthalmia (11.5%), facial asymmetry (10.6%), as well as oculoauriculovertebral spectrum syndromes, Goldenhar syndrome, craniofacial microsomia, Treacher Collins syndrome, Nager, DiGeorge or 22q deletion, Townes-Brock syndrome and branchi oto-renal syndrome. Treatments are based on the aesthetic management of the patient, but also related to the improvement of the patient's hearing ability. Epidemiologically, the prevalence ranges from 0.8 to 17.5 per 10,000 live births. One of the main risk factors for variation in case identification is altitude, genetics and maternal-perinatal factors. This literature review provides a thorough analysis of information for the better understanding, analysis and clinical management of this congenital anomaly. |
publishDate |
2023 |
dc.date.none.fl_str_mv |
2023-09-30 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://journals.sapienzaeditorial.com/index.php/SIJIS/article/view/707 10.51798/sijis.v4iSI1.707 |
url |
https://journals.sapienzaeditorial.com/index.php/SIJIS/article/view/707 |
identifier_str_mv |
10.51798/sijis.v4iSI1.707 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
https://journals.sapienzaeditorial.com/index.php/SIJIS/article/view/707/505 |
dc.rights.driver.fl_str_mv |
Copyright (c) 2023 Sheyla Teresa Navas Llanos, Carmen Barba Guzmán Variña https://creativecommons.org/licenses/by-nc-nd/4.0 info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Copyright (c) 2023 Sheyla Teresa Navas Llanos, Carmen Barba Guzmán Variña https://creativecommons.org/licenses/by-nc-nd/4.0 |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Sapienza Grupo Editorial |
publisher.none.fl_str_mv |
Sapienza Grupo Editorial |
dc.source.none.fl_str_mv |
Sapienza: International Journal of Interdisciplinary Studies; Vol. 4 No. SI1 (2023): Special Issue: Interdisciplinary Studies in Health Sciences; e23046 Sapienza: International Journal of Interdisciplinary Studies; Vol. 4 Núm. SI1 (2023): Special Issue: Interdisciplinary Studies in Health Sciences; e23046 Sapienza: International Journal of Interdisciplinary Studies; v. 4 n. SI1 (2023): Special Issue: Interdisciplinary Studies in Health Sciences; e23046 2675-9780 reponame:Sapienza (Curitiba) instname:Sapienza Grupo Editorial instacron:SAPIENZA |
instname_str |
Sapienza Grupo Editorial |
instacron_str |
SAPIENZA |
institution |
SAPIENZA |
reponame_str |
Sapienza (Curitiba) |
collection |
Sapienza (Curitiba) |
repository.name.fl_str_mv |
Sapienza (Curitiba) - Sapienza Grupo Editorial |
repository.mail.fl_str_mv |
editor@sapienzaeditorial.com |
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1797051606501425152 |