title: Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings.
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.
authors.affiliation: Department of Obstetrics and Gynecology, St-Jans Hospital, Genk, Belgium. tinne.mesens@ZOL.be
authors.forename: T
authors.initials: T
authors.lastname: Mesens
authors.affiliation: Department of Obstetrics and Gynecology, St-Jans Hospital, Genk, Belgium.
authors.forename: I
authors.initials: I
authors.lastname: Witters
authors.affiliation: Department of Pathology, St-Jans Hospital, Genk, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Van Robaeys
authors.affiliation: Center for Human Genetics, University of Leuven, Leuven, Belgium.
authors.forename: H
authors.initials: H
authors.lastname: Peeters
authors.affiliation: Center for Human Genetics, University of Leuven, Leuven, Belgium.
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D037881:Aborted Fetus / Q000473:pathology*; D000328:Adult; D000402:Airway Obstruction / Q000151:congenital / Q000000981:diagnostic imaging / Q000473:pathology*; D001344:Autopsy; D005260:Female; D058497:Fraser Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal