Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS.

European Journal of Pediatrics
Piet VanhaesebrouckFrans De Baets

Abstract

Congenital high airway obstruction syndrome (CHAOS) is a rare prenatal diagnosis consisting of a typical fetal triad of large hyperechogenic lungs, flattened or inverted diaphragms and ascites. Most cases are sporadic with unknown incidence. Before attempts of fetoscopic fetal salvage or ex utero intrapartum treatment (EXIT) are considered, additional malformations must be carefully excluded as CHAOS may be part of various monogenic conditions or chromosomal disorders. We report an unique family with autosomal dominant inheritance of CHAOS and variable expression in the affected father and two affected children. It is concluded that minor expression in one of the parents may be an important indicator for genetic counseling in CHAOS and management of future pregnancies.

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Citations

Jan 1, 2009·BMJ Case Reports·Manuel Sousa CunhaRicardo Laurini
Nov 20, 2013·Case Reports in Obstetrics and Gynecology·Burcu Artunc UlkumenYesim Baytur
Dec 3, 2014·Otolaryngologic Clinics of North America·Patrick C Walz, James W Schroeder
Aug 18, 2010·Journal of Pediatric Surgery·Jessica L RoybalAlan W Flake
Nov 21, 2012·American Journal of Medical Genetics. Part a·Erica SanfordAnne Slavotinek
Dec 4, 2016·Pathology, Research and Practice·Manasi GosaviHema Bannur
Dec 19, 2016·European Annals of Otorhinolaryngology, Head and Neck Diseases·J ChevreauC Page
Mar 14, 2017·BJR Case Reports·Umesh Shriniwas Mudaliyar, Sneha Sreedhar
Oct 29, 2020·Journal of Family Medicine and Primary Care·Latika ChawlaPreeti Singh

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