Novel Fetal Phenotype for Pan-Chung-Bellen Syndrome Including Congenital Diaphragmatic Hernia

Pan-Chung-Bellen综合征的新型胎儿表型,包括先天性膈疝

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Abstract

What is already known about this topic? ◦. Pan‐Chung‐Bellen syndrome is a newly described pediatric syndrome with known features including developmental delay and intellectual disability, dysmorphic features, and central nervous system, cardiovascular, gastrointestinal, genitourinary, and skeletal anomalies. What does this study add? ◦. We describe a fetus with Pan‐Chung‐Bellen presenting with multiple anomalies including congenital diaphragmatic hernia, which has not been previously described and may be important for inclusion into the phenotype of this disorder.

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