Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings.

Mesens, T; Witters, I; Van Robaeys, J; Peeters, H; Fryns, J P

Mesens, T; Witters, I; Van Robaeys, J; Peeters, H; Fryns, J P.

Afiliação

Mesens T; Department of Obstetrics and Gynecology, St-Jans Hospital, Genk, Belgium. tinne.mesens@ZOL.be
Witters I; Department of Obstetrics and Gynecology, St-Jans Hospital, Genk, Belgium.
Van Robaeys J; Department of Pathology, St-Jans Hospital, Genk, Belgium.
Peeters H; Center for Human Genetics, University of Leuven, Leuven, Belgium.
Fryns JP; Center for Human Genetics, University of Leuven, Leuven, Belgium.

Genet Couns ; 24(4): 367-71, 2013.

Article em En | MEDLINE | ID: mdl-24551978

ABSTRACT

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.

Assuntos

Feto Abortado/patologia; Obstrução das Vias Respiratórias/patologia; Síndrome de Fraser/diagnóstico; Adulto; Obstrução das Vias Respiratórias/congênito; Obstrução das Vias Respiratórias/diagnóstico por imagem; Autopsia; Feminino; Síndrome de Fraser/complicações; Síndrome de Fraser/genética; Humanos; Gravidez; Síndrome; Ultrassonografia Pré-Natal

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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

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