Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings.
Genet Couns
; 24(4): 367-71, 2013.
Article
em En
| MEDLINE
| ID: mdl-24551978
ABSTRACT
Congenital High Airway Obstruction Syndrome (CHAOS) is a potential lethal condition. We describe a case report of CHAOS, with additional malformations diagnosed at 20 weeks. Autopsy findings are suggestive for Fraser syndrome (cryptophthalmos-syndactyly syndrome; OMIM 219000). The diagnosis was confirmed by mutation analysis of FRAS1.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Feto Abortado
/
Obstrução das Vias Respiratórias
/
Síndrome de Fraser
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Genet Couns
Ano de publicação:
2013
Tipo de documento:
Article