Clinical characteristics of CHARGE syndrome

• Published in: Journal of the Chinese Medical Association Vol. 67; no. 10; pp. 542 - 546
• Main Authors: Hsueh, Kuo-Fang, Yang, Chang-Sue, Lu, Jen-Her, Hsu, Wen-Ming
• Format: Journal Article
• Language: English
• Published: Netherlands 01.10.2004
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - pathology; Choroid - abnormalities; Coloboma - pathology; Ductus Arteriosus, Patent - pathology; Ear - abnormalities; Female; Growth Disorders - pathology; Heart Septal Defects, Atrial - pathology; Humans; Infant; Retina - abnormalities; Syndrome
• ISSN: 1726-4901

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.