Clinical Case Reports (Mar 2024)

CHARGE syndrome with early fetal ear abnormalities: A case report

  • Yu Liang,
  • Sijie He,
  • Liuqiao Yang,
  • Tao Li,
  • Lijian Zhao,
  • Cong‐xin Sun

DOI
https://doi.org/10.1002/ccr3.8670
Journal volume & issue
Vol. 12, no. 3
pp. n/a – n/a

Abstract

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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 CHD7 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.

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