Skull base vascular anomaly in CHARGE syndrome: a case report and review.
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.
Song
Jae-Jun
JJ
Department of Otorhinolaryngology-Head and Neck Surgery, Dongguk University International Hospital, 814 Siksa-Dong, Goyang, Gyeonggi 410-773, South Korea. entsong@empal.com
Kwon
Seong Keun
SK
Cho
Chang Gun
CG
Park
Seok-Won
SW
D000015:Abnormalities, Multiple; D001158:Arteries / Q000002:abnormalities*; D001301:Audiometry, Pure-Tone / Q000379:methods; D002648:Child; D004423:Ear / Q000002:abnormalities*; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities*; D006311:Hearing Disorders / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D019291:Skull Base / Q000098:blood supply*; D013577:Syndrome; D013701:Temporal Bone / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed; D014551:Urinary Tract / Q000002:abnormalities*; D014786:Vision Disorders / Q000150:complications; D014792:Visual Acuity / Q000502:physiology