猫眼综合征病例中的先天性膈疝
Congenital diaphragmatic hernia in a case of Cat eye syndrome.
作者信息
Alsat Ebru Aileen, Reutter Heiko, Bagci Soyhan, Kipfmueller Florian, Engels Hartmut, Raff Ruth, Mangold Elisabeth, Gembruch Ulrich, Geipel Annegret, Müller Andreas, Schaible Thomas
机构信息
Department of Neonatology and Pediatric Intensive Care University of Bonn Bonn Germany.
Institute of Human Genetics University of Bonn Bonn Germany.
出版信息
Clin Case Rep. 2018 Jul 23;6(9):1786-1790. doi: 10.1002/ccr3.1646. eCollection 2018 Sep.
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.
摘要
我们的研究结果扩展了猫眼综合征的表型谱，这是一种临床变异性广泛的疾病。在遗传咨询和产前诊断中应考虑先天性膈疝潜在的危及生命的并发症。
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