Anencephaly (Q46008): Difference between revisions
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Anencefalia é um defeito do tubo neural, caracterizado pela ausência total ou parcial da abóbada craniana e de sua pele de cobertura, estando o cérebro ausente ou reduzido a uma pequena massa. A maioria dos casos é natimorta, embora tenha sido relatado que alguns neonatos teriam sobrevivido por algumas horas. Na maioria dos casos, os achados da autópsia revelam ausência de glândulas adrenais. É provável que a anencefalia seja multifatorial, o resultado de interações gene-ambiente. Casos familiares com um modo de herança aparentemente autossômico recessivo foram descritos, mas a maioria dos casos é esporádica. Deficiências de ácido fólico e zinco, bem como obesidade materna, têm sido demonstradas como fatores de risco. | |||
| description / en | description / en | ||
Anencephaly is a neural tube defect, characterised by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours. In most cases autopsy findings reveal absence of adrenal glands. Anencephaly is likely to be multifactorial, the result of gene-environment interactions. Familial cases with a seemingly autosomal recessive mode of inheritance have been described but most cases are sporadic. Folic acid and zinc deficiencies, as well as maternal obesity, have been shown to be risk factors. | |||
Revision as of 14:18, 13 August 2026
Anencephaly is a neural tube defect, characterised by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours. In most cases autopsy findings reveal absence of adrenal glands. Anencephaly is likely to be multifactorial, the result of gene-environment interactions. Familial cases with a seemingly autosomal recessive mode of inheritance have been described but most cases are sporadic. Folic acid and zinc deficiencies, as well as maternal obesity, have been shown to be risk factors.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LA00.0 |
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| English | Anencephaly |
Anencephaly is a neural tube defect, characterised by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours. In most cases autopsy findings reveal absence of adrenal glands. Anencephaly is likely to be multifactorial, the result of gene-environment interactions. Familial cases with a seemingly autosomal recessive mode of inheritance have been described but most cases are sporadic. Folic acid and zinc deficiencies, as well as maternal obesity, have been shown to be risk factors. |
