title: [CHARGE association: report of a case with literature review].
abstract: The CHARGE association was described as a cluster of multiple congenital defects by Pagon et al in 1981. The underlining cause of this association is not yet clear. These defects include coloboma of the eye tissues (C), heart disease (H), atresia choanae (A), retarded growth and development and/or CNS anomalies (R), genital anomalies (G), ear anomalies and/or hearing loss (E). Here we report a case of CHARGE association in a 15-year-old female patient. She presented with unilateral ptosis and coloboma of the iris, choroid and retina, patent ductus arteriosus, growth and mental retardation, unilateral ear deformity and a hearing loss. A total of 124 cases have been reported up to now in the literature. We also discuss the frequency of the respective clinical symptoms and signs, and the leading causes of misdiagnosis. We emphasize the importance of ophthalmology and ENT consultations whenever a patient is noted to have multiple congenital anomalies, especially when a cardiac defect is present. Early diagnosis and treatment are essential for this rare association.
authors.affiliation: Department of Pediatrics, Taipei Municipal Yang-Ming Hospital, Taiwan, R.O.C.
authors.forename: C H
authors.initials: CH
authors.lastname: Wu
authors.forename: Y M
authors.initials: YM
authors.lastname: Ko
authors.forename: L A
authors.initials: LA
authors.lastname: Wang
authors.forename: S C
authors.initials: SC
authors.lastname: Lai
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D002754:Choanal Atresia / Q000175:diagnosis; D003103:Coloboma / Q000175:diagnosis; D003937:Diagnosis, Differential; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006130:Growth Disorders / Q000175:diagnosis; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans