Congenital diaphragmatic hernia in a case of Cat eye syndrome. Issue 9 (23rd July 2018)

• Record Type: Journal Article
• Authors: Alsat, Ebru Aileen; Reutter, Heiko; Bagci, Soyhan; Kipfmueller, Florian; Engels, Hartmut; Raff, Ruth; Mangold, Elisabeth; Gembruch, Ulrich; Geipel, Annegret; Müller, Andreas; Schaible, Thomas
• Is Part Of: Clinical case reports. Volume 6:Issue 9(2018)
• Page Start: 1786
• Page End: 1790
• Publication Date: 2018-07-23
• Subjects: 22q11.2 -- case report -- Cat eye syndrome -- congenital diaphragmatic hernia -- supernumerary bisatellited marker chromosome; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1646
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. 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.