ArticleCureus2025
CHARGE Syndrome in a Six-Month-Old Male Infant: A Case Report.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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8 authors.
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Abstract
CHARGE syndrome, short for coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies, is a rare congenital disorder caused by genetic mutations. The diagnosis is based on a combination of major criteria, such as coloboma of the iris or choroid, choanal atresia, and hypoplastic semicircular canal, and minor criteria, including rhombencephalic dysfunction, hypothalamic-pituitary dysfunction, and malformations of the middle or external ear. Additional associated anomalies include malformations of mediastinal organs (heart, esophagus) and intellectual disability. We present the case of a six-month-old infant who showed signs of facial dysmorphism, delayed growth, and impaired psychomotor development. Ophthalmologic evaluation revealed chorioretinal coloboma. Cardiac ultrasound revealed a persistent ventricular septal defect. Based on the combination of the clinical findings, CHARGE syndrome was suspected and subsequently confirmed by genetic testing.
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