Fetal hydantoin syndrome (Q46696): Difference between revisions
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Síndrome da hidantoína fetal é uma fetopatia que pode ocorrer quando uma mulher grávida toma o anticonvulsivante fenitoína (difenilhidantoína) para ataques epilépticos. A exposição in utero a esta droga pode resultar em uma síndrome dismórfica característica no recém-nascido, incluindo cabelos de implantação baixa, pescoço curto com pterígio coli, nariz pequeno, ponte nasal profunda, epicanto, hipertelorismo, boca grande, orelhas malformadas, falanges distais hipoplásicas de dedos das mãos e dos pés e polegares semelhantes a dedos. Essas características dismórficas são frequentemente associadas a retardo de crescimento e atraso do desenvolvimento psicomotor. Foi demonstrado que o mecanismo subjacente a essas anomalias depende das características genéticas maternas, ou seja, da capacidade materna de metabolizar metabólitos intermediários da fenitoína. | |||
| description / en | description / en | ||
Fetal hydantoin syndrome is a fetopathy likely to occur when a pregnant woman takes the anticonvulsant drug phenytoin (diphenylhydantoin) for epileptic seizures. In utero exposure to this drug may result in a characteristic dysmorphic syndrome in the newborn, including low-set hair, short neck with pterygium colli, small nose, deep nasal bridge, epicanthus, hypertelorism, large mouth, malformed ears, hypoplastic distal phalanges of the fingers and toes and finger-like thumbs. These dysmorphic features are often associated with growth retardation and delayed psychomotor development. The mechanism underlying these anomalies has been shown to depend on maternal genetic characteristics, i.e. on maternal capacity to detoxify intermediate metabolites of phenytoin. | |||
Revision as of 15:28, 13 August 2026
Fetal hydantoin syndrome is a fetopathy likely to occur when a pregnant woman takes the anticonvulsant drug phenytoin (diphenylhydantoin) for epileptic seizures. In utero exposure to this drug may result in a characteristic dysmorphic syndrome in the newborn, including low-set hair, short neck with pterygium colli, small nose, deep nasal bridge, epicanthus, hypertelorism, large mouth, malformed ears, hypoplastic distal phalanges of the fingers and toes and finger-like thumbs. These dysmorphic features are often associated with growth retardation and delayed psychomotor development. The mechanism underlying these anomalies has been shown to depend on maternal genetic characteristics, i.e. on maternal capacity to detoxify intermediate metabolites of phenytoin.
| Language | Label | Description | Also known as |
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| default for all languages | LD2F.01 |
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| English | Fetal hydantoin syndrome |
Fetal hydantoin syndrome is a fetopathy likely to occur when a pregnant woman takes the anticonvulsant drug phenytoin (diphenylhydantoin) for epileptic seizures. In utero exposure to this drug may result in a characteristic dysmorphic syndrome in the newborn, including low-set hair, short neck with pterygium colli, small nose, deep nasal bridge, epicanthus, hypertelorism, large mouth, malformed ears, hypoplastic distal phalanges of the fingers and toes and finger-like thumbs. These dysmorphic features are often associated with growth retardation and delayed psychomotor development. The mechanism underlying these anomalies has been shown to depend on maternal genetic characteristics, i.e. on maternal capacity to detoxify intermediate metabolites of phenytoin. |
