| pubmed-article:18282615 | pubmed:abstractText | 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. | lld:pubmed |
