Title
Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
Berlin ,
Subject
Human medicine
Source (journal)
European journal of pediatrics. - Berlin
Volume/pages
165(2006) :10 , p. 706-708
ISSN
0340-6199
ISI
000240058200008
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
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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