A Case of Patau Syndrome Diagnosed in Antenatal Care / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology
; : 1634-1638, 2003.
Article
em Ko
| WPRIM
| ID: wpr-93066
Biblioteca responsável:
WPRO
ABSTRACT
Patau syndrome is the least common and most severe viable autosomal trisomy. First identified as a cytogenic syndrome in 1960, Patau syndrome is caused by extracopy of chromosome 13. It is characterized by holoprosencephaly, cleft lip, cleft palate, cyclopia, polydactyly, congenital heart disease, and intrauterine growth retardation. Because of severity of congenital defects, extremely short survival time is expected. The rare survivors have profound mental retardation and seizures. So life sustaining procedures are generally not attempted. We report a case of Patau syndrome, which was diagnosed by prenatal ultrasonography at 25 weeks gestational age.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Convulsões
/
Anormalidades Congênitas
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Trissomia
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Cromossomos Humanos Par 13
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Holoprosencefalia
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Ultrassonografia Pré-Natal
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Fenda Labial
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Fissura Palatina
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Idade Gestacional
/
Sobreviventes
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
Idioma:
Ko
Ano de publicação:
2003
Tipo de documento:
Article