Literature DB >> 24551978

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

T Mesens1, I Witters2, J Van Robaeys3, H Peeters4, J P Fryns4.   

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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Mesh：

Year:  2013        PMID： 24551978

Source DB:  PubMed          Journal:  Genet Couns        ISSN： 1015-8146


  3 in total

1.  Creating Order Out of Chaos - Role of Antenatal Ultrasound in Diagnosis.

Authors:  Vaibhav Dethe; Purnachandra Lamghare; Sachin Bagale; Vasudha Agarwal
Journal:  Pol J Radiol       Date:  2017-08-23

2.  Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2.

Authors:  Shoko Ikeda; Chika Akamatsu; Akifumi Ijuin; Ami Nagashima; Megumi Sasaki; Akihiko Mochizuki; Hiromi Nagase; Yumi Enomoto; Yukiko Kuroda; Kenji Kurosawa; Hiroshi Ishikawa
Journal:  Hum Genome Var       Date:  2020-10-02

3.  Postmortem magnetic resonance appearances of congenital high airway obstruction syndrome.

Authors:  Owen J Arthurs; Lyn S Chitty; Lydia Judge-Kronis; Neil J Sebire
Journal:  Pediatr Radiol       Date:  2014-09-05
  3 in total

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