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Congenital diaphragmatic hernia in a case of Cat eye syndrome
Ebru Aileen Alsat1, Heiko Reutter1,2, Soyhan Bagci1
1Department of Neonatology and Pediatric Intensive Care University of Bonn Bonn Germany.
Clinical Case Reports
|September 15, 2018
Insights
Cat eye syndrome (CES) presents a broader range of symptoms than previously known. Congenital diaphragmatic hernia, a serious complication, requires careful consideration during genetic counseling and prenatal diagnosis.
Area of Science:
- Genetics
- Pediatrics
- Medical Diagnostics
Background:
- Cat eye syndrome (CES) is a rare chromosomal disorder characterized by a wide spectrum of clinical variability.
- Previous research has documented various phenotypic manifestations, but the full extent remains under investigation.
Observation:
- This study expands the known phenotypic manifestations of Cat eye syndrome.
- Congenital diaphragmatic hernia (CDH) was identified as a significant complication within the observed CES cases.
Findings:
- The findings broaden the understanding of Cat eye syndrome's clinical variability.
- Congenital diaphragmatic hernia represents a potentially life-threatening condition associated with CES.
Implications:
- Genetic counseling for Cat eye syndrome must incorporate the risk of congenital diaphragmatic hernia.
- Prenatal diagnostic strategies should be enhanced to detect CDH in fetuses with suspected CES.
- This research underscores the importance of thorough phenotypic assessment in rare genetic disorders.
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.
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