Link: https://www.ncbi.nlm.nih.gov/pubmed/30214764

Clin Case Rep. 2018 Jul 23;6(9):1786-1790. doi: 10.1002/ccr3.1646. eCollection 2018 Sep.
Congenital diaphragmatic hernia in a case of Cat eye syndrome.
Alsat EA1, Reutter H1,2, Bagci S1, Kipfmueller F1, Engels H2, Raff R2, Mangold E2, Gembruch U3, Geipel A3, Müller A1, Schaible T4.
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Abstract
Our findings extend the phenotypic spectrum of Cat eye syndrome, a disorder with wide clinical variability. The potentially life-threatening complications of congenital diaphragmatic hernia should be considered in genetic counseling and prenatal diagnostic.

KEYWORDS:
22q11.2; Cat eye syndrome; case report; congenital diaphragmatic hernia; supernumerary bisatellited marker chromosome

PMID: 30214764 PMCID: PMC6132134 DOI: 10.1002/ccr3.1646
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