CHARGE syndrome with early fetal ear abnormalities: A case report

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 theCHD7 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.
Source: Clinical Case Reports - Category: General Medicine Authors: Tags: CASE REPORT Source Type: research