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CHARGE Syndrome with Early Fetal Ear Abnormalities: A Case Report

Overview
Journal Clin Case Rep
Date 2024 Mar 20
PMID 38505478
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Abstract

Key Clinical Message: CHARGE syndrome is a rare genetic disorder characterized by several distinct features. The presence of fetal ear abnormalities could be the early indicator of CHARGE syndrome. Subsequent prenatal diagnosis is essential to confirm the disorder. This is significant because the patient may receive genetic counseling and appropriate disposal based on the accurate diagnosis.

Abstract: CHARGE syndrome is a rare genetic disorder with multiple specific clinical features. The prenatal diagnosis is crucial but rarely achieved. We report a fetus with fetal external ear abnormality detected by ultrasound at 22nd week of gestation. Postnatal examination revealed an external ear abnormality, a mild atrial septal defect, and other clinical signs of CHARGE syndrome. A de novo pathogenic nonsense mutation in the gene (c.406C > T, p.Q136X in exon 2) was identified to cause the disorder. Our study demonstrated that prenatal diagnosis and genetic testing were recommended to obtain a solid diagnosis of CHARGE syndrome when fetal external ear abnormality was detected by ultrasound examination.

Citing Articles

CHARGE syndrome with early fetal ear abnormalities: A case report.

Liang Y, He S, Yang L, Li T, Zhao L, Sun C Clin Case Rep. 2024; 12(3):e8670.

PMID: 38505478 PMC: 10948373. DOI: 10.1002/ccr3.8670.

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