title: Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS.
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.
authors.affiliation: Department of Neonatology, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium. piet.vanhaesebrouck@UGent.be
authors.forename: Piet
authors.initials: P
authors.lastname: Vanhaesebrouck
authors.forename: Kris
authors.initials: K
authors.lastname: De Coen
authors.forename: Paul
authors.initials: P
authors.lastname: Defoort
authors.forename: Hubert
authors.initials: H
authors.lastname: Vermeersch
authors.forename: Geert
authors.initials: G
authors.lastname: Mortier
authors.forename: Linde
authors.initials: L
authors.lastname: Goossens
authors.forename: Koen
authors.initials: K
authors.lastname: Smets
authors.forename: Alexandra
authors.initials: A
authors.lastname: Zecic
authors.forename: Sabine
authors.initials: S
authors.lastname: Vandaele
authors.forename: Frans
authors.initials: F
authors.lastname: De Baets
mesh_terms: D000402:Airway Obstruction / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D007830:Larynx / Q000002:abnormalities*; D008297:Male; D011296:Prenatal Diagnosis; D013577:Syndrome