title: Clinical characteristics of CHARGE syndrome.
abstract: CHARGE syndrome is a specific collection of non-randomly occurring congenital anomalies. The patient of CHARGE syndrome may be presented to ophthalmologists due to ocular coloboma. The acronym CHARGE stands for the major features of this syndrome: Coloboma of the eye, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and/or deafness. The etiology may be genetically heterogeneous, but the majority of cases are sporadic events of unknown cause. We report 2 girls with ocular coloboma who were consistent with the diagnostic criteria of CHARGE syndrome, and review the literature. Double aortic arch has not been described in CHARGE syndrome before. Ophthalmologists should be aware of this not uncommon syndrome. Evaluation of associated defects and proper referral for timely management may be critical for patients with CHARGE syndrome.
authors.affiliation: Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan, ROC.
authors.forename: Kuo-Fang
authors.initials: KF
authors.lastname: Hsueh
authors.forename: Chang-Sue
authors.initials: CS
authors.lastname: Yang
authors.forename: Jen-Her
authors.initials: JH
authors.lastname: Lu
authors.forename: Wen-Ming
authors.initials: WM
authors.lastname: Hsu
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D002829:Choroid / Q000002:abnormalities*; D003103:Coloboma / Q000473:pathology*; D004374:Ductus Arteriosus, Patent / Q000473:pathology; D004423:Ear / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000473:pathology; D006344:Heart Septal Defects, Atrial / Q000473:pathology; D006801:Humans; D007223:Infant; D012160:Retina / Q000002:abnormalities*; D013577:Syndrome