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Case Reports
Journal Article
Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findings.
Genetic Counseling 2013
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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