Clinical characteristics of CHARGE syndrome

Kuo Fang Hsueh, Chang Sue Yang, Jen Her Lu, Wen-Ming Hsu

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)542-546
Number of pages5
JournalJournal of the Chinese Medical Association
Volume67
Issue number10
Publication statusPublished - Oct 1 2004
Externally publishedYes

Fingerprint

CHARGE Syndrome
Coloboma
Nasopharynx
Deafness
Thoracic Aorta
Growth and Development
Ear
Referral and Consultation

Keywords

  • CHARGE syndrome
  • Choanae atresia
  • Coloboma
  • Congenital anomalies
  • Heart defects

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Hsueh, K. F., Yang, C. S., Lu, J. H., & Hsu, W-M. (2004). Clinical characteristics of CHARGE syndrome. Journal of the Chinese Medical Association, 67(10), 542-546.

Clinical characteristics of CHARGE syndrome. / Hsueh, Kuo Fang; Yang, Chang Sue; Lu, Jen Her; Hsu, Wen-Ming.

In: Journal of the Chinese Medical Association, Vol. 67, No. 10, 01.10.2004, p. 542-546.

Research output: Contribution to journalArticle

Hsueh, KF, Yang, CS, Lu, JH & Hsu, W-M 2004, 'Clinical characteristics of CHARGE syndrome', Journal of the Chinese Medical Association, vol. 67, no. 10, pp. 542-546.
Hsueh, Kuo Fang ; Yang, Chang Sue ; Lu, Jen Her ; Hsu, Wen-Ming. / Clinical characteristics of CHARGE syndrome. In: Journal of the Chinese Medical Association. 2004 ; Vol. 67, No. 10. pp. 542-546.
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