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Podcast: Stay Current in Pediatric Surgery
Episode: QUAD #22: What is CHARGE syndrome? with Dr. Catherine Hart
Description: In this educational video, Dr. Catherine Hart, ENT surgeon at Cincinnati Children’s, provides an overview of CHARGE syndrome, a rare genetic disorder that affects multiple organ systems. Learn about its diagnosis, clinical features, and the comprehensive care required for patients with this condition.Key Highlights:What is CHARGE Syndrome? The acronym stands for coloboma, heart defects, atresia of the choanae, retardation of growth and development, genital/urinary anomalies, and ear malformations.Causes and Diagnosis: CHARGE is typically caused by a CHD7 mutation on chromosome 8 but can also be diagnosed clinically with specific major and minor cr...