CHARGE syndrome was first described by Pagon, and was named for its six major clinical features, which are; coloboma of the eye, heart defects, atresia of the choanae, retarded growth and developmental anomalies, which include CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. The authors experienced a case of CHARGE syndrome that displayed bilateral jugular foramen atresia and a collateral emissary vein. In addition, the authors reviewed the literatures pertaining to CHARGE syndrome.
|Number of pages||5|
|Journal||International Journal of Pediatric Otorhinolaryngology|
|Publication status||Published - 2008 Apr|
- CHARGE syndrome
- Hearing loss
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health