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Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS

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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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Abbreviations

CCAML:

Congenital cystic adenomatoid malformation of the lungs

CHAOS:

Congenital high airway obstruction syndrome

CT:

Computerized tomography

EXIT:

Ex utero intrapartum treatment

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Authors and Affiliations

  1. Department of Neonatology, Ghent University Hospital, De Pintelaan 185, 9000, Ghent, Belgium

    Piet Vanhaesebrouck, Kris De Coen, Linde Goossens, Koen Smets & Alexandra Zecic

  2. Department of Obstetrics, Ghent University Hospital, Ghent, Belgium

    Paul Defoort

  3. Department of Head & Neck Surgery, Ghent University Hospital, Ghent, Belgium

    Hubert Vermeersch

  4. Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium

    Geert Mortier

  5. Department of Paediatric Pulmonology, Ghent University Hospital, Ghent, Belgium

    Sabine Vandaele & Frans De Baets

Authors
  1. Piet Vanhaesebrouck
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  2. Kris De Coen
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  3. Paul Defoort
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  4. Hubert Vermeersch
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  5. Geert Mortier
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  6. Linde Goossens
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  7. Koen Smets
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  8. Alexandra Zecic
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  9. Sabine Vandaele
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  10. Frans De Baets
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Corresponding author

Correspondence to Piet Vanhaesebrouck.

Additional information

This paper was also presented as an abstract at the 7th World Congress of Perinatal Medicine in Zagreb, Croatia, 21–24 September, 2005.

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Vanhaesebrouck, P., De Coen, K., Defoort, P. et al. Evidence for autosomal dominant inheritance in prenatally diagnosed CHAOS. Eur J Pediatr 165, 706–708 (2006). https://doi.org/10.1007/s00431-006-0134-z

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  • DOI: https://doi.org/10.1007/s00431-006-0134-z

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