A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound
Autor(a) principal: | |
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Data de Publicação: | 1999 |
Outros Autores: | |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Genetics and Molecular Biology |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000200002 |
Resumo: | Fetal hydantoin syndrome (FHS) is a set of disruptions occasionally present in fetuses exposed in utero to phenytoin or other anticonvulsants. Administration of phenytoin in early pregnancy may impair proper psychomotor performance expected for children's development. Several combined phenotypic markers delineate the syndrome, but the presence of single clinical signs is more common. There is controversy about the etiology of FHS. Associated disruptions may be related to a deficiency in a detoxifying enzyme (epoxide hydrolase), vascular problems, and/or factors not yet known. Genetic causes are believed to influence susceptibility to the drug. This text reports an unusual pattern of malformations detected in an ultrasound scan (gastroschisis, sacral meningomyelocele, and absence of the right lower limb) and in the anatomopathological study (left-side gastroschisis, sacral meningomyelocele, scoliosis, left clubfoot, absence of the right lower limb, and pectus carinatum) of a fetus whose mother took phenytoin. These defects may have been provoked by exposure to the drug during embryogenesis. In view of similar malformations observed in cases of prenatal exposure to cocaine, a recognized vasoconstrictor, it is suggested that vascular disruptions of hemodynamic origin constituted the event leading to some of the anomalies caused in the developing embryo. A complication of the chorionic villus sampling procedure, used for cytogenetic analysis, is another possibility. |
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A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasoundFetal hydantoin syndrome (FHS) is a set of disruptions occasionally present in fetuses exposed in utero to phenytoin or other anticonvulsants. Administration of phenytoin in early pregnancy may impair proper psychomotor performance expected for children's development. Several combined phenotypic markers delineate the syndrome, but the presence of single clinical signs is more common. There is controversy about the etiology of FHS. Associated disruptions may be related to a deficiency in a detoxifying enzyme (epoxide hydrolase), vascular problems, and/or factors not yet known. Genetic causes are believed to influence susceptibility to the drug. This text reports an unusual pattern of malformations detected in an ultrasound scan (gastroschisis, sacral meningomyelocele, and absence of the right lower limb) and in the anatomopathological study (left-side gastroschisis, sacral meningomyelocele, scoliosis, left clubfoot, absence of the right lower limb, and pectus carinatum) of a fetus whose mother took phenytoin. These defects may have been provoked by exposure to the drug during embryogenesis. In view of similar malformations observed in cases of prenatal exposure to cocaine, a recognized vasoconstrictor, it is suggested that vascular disruptions of hemodynamic origin constituted the event leading to some of the anomalies caused in the developing embryo. A complication of the chorionic villus sampling procedure, used for cytogenetic analysis, is another possibility.Sociedade Brasileira de Genética1999-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000200002Genetics and Molecular Biology v.22 n.2 1999reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47571999000200002info:eu-repo/semantics/openAccessGollop,Thomaz RafaelSalzo,Ivaneng1999-08-26T00:00:00Zoai:scielo:S1415-47571999000200002Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:1999-08-26T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false |
dc.title.none.fl_str_mv |
A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound |
title |
A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound |
spellingShingle |
A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound Gollop,Thomaz Rafael |
title_short |
A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound |
title_full |
A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound |
title_fullStr |
A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound |
title_full_unstemmed |
A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound |
title_sort |
A case of prenatal diagnosis of fetal hydantoin syndrome by ultrasound |
author |
Gollop,Thomaz Rafael |
author_facet |
Gollop,Thomaz Rafael Salzo,Ivan |
author_role |
author |
author2 |
Salzo,Ivan |
author2_role |
author |
dc.contributor.author.fl_str_mv |
Gollop,Thomaz Rafael Salzo,Ivan |
description |
Fetal hydantoin syndrome (FHS) is a set of disruptions occasionally present in fetuses exposed in utero to phenytoin or other anticonvulsants. Administration of phenytoin in early pregnancy may impair proper psychomotor performance expected for children's development. Several combined phenotypic markers delineate the syndrome, but the presence of single clinical signs is more common. There is controversy about the etiology of FHS. Associated disruptions may be related to a deficiency in a detoxifying enzyme (epoxide hydrolase), vascular problems, and/or factors not yet known. Genetic causes are believed to influence susceptibility to the drug. This text reports an unusual pattern of malformations detected in an ultrasound scan (gastroschisis, sacral meningomyelocele, and absence of the right lower limb) and in the anatomopathological study (left-side gastroschisis, sacral meningomyelocele, scoliosis, left clubfoot, absence of the right lower limb, and pectus carinatum) of a fetus whose mother took phenytoin. These defects may have been provoked by exposure to the drug during embryogenesis. In view of similar malformations observed in cases of prenatal exposure to cocaine, a recognized vasoconstrictor, it is suggested that vascular disruptions of hemodynamic origin constituted the event leading to some of the anomalies caused in the developing embryo. A complication of the chorionic villus sampling procedure, used for cytogenetic analysis, is another possibility. |
publishDate |
1999 |
dc.date.none.fl_str_mv |
1999-06-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000200002 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571999000200002 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S1415-47571999000200002 |
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.22 n.2 1999 reponame:Genetics and Molecular Biology instname:Sociedade Brasileira de Genética (SBG) instacron:SBG |
instname_str |
Sociedade Brasileira de Genética (SBG) |
instacron_str |
SBG |
institution |
SBG |
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) |
repository.mail.fl_str_mv |
||editor@gmb.org.br |
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1752122377339142144 |