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VOLUME 11 , ISSUE 3 ( Sep-Dec, 2018 ) > List of Articles

REVIEW ARTICLE

Charge Syndrome

Mrs. Saranya S

Keywords : Coloboma, Atresia Choanae Growth Retardation

Citation Information : S MS. Charge Syndrome. 2018; 11 (3):30-33.

DOI: 10.5005/pjn-11-3-30

License: CC BY-NC 4.0

Published Online: 01-12-2018

Copyright Statement:  Copyright © 2018; The Author(s).


Abstract

CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities. The pattern of malformations varies among individuals with this disorder, and the multiple health problems can be life-threatening in infancy. Affected individuals usually have several major characteristics or a combination of major and minor characteristics.

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  1. Vissers LE, van Ravenswaaij CM, Admiraal R, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. 2004 Sep. 36(9): 955-7.
  2. Zentner GE, Layman WS, Martin DM, Scacheri PC. Molecular and phenotypic aspects of CHD 7 mutation in CHARGE syndrome. Am J Med Genet A. 2010 Mar. 152A(3): 674-86.
  3. Pagon RA, Graham JM Jr, Zonana J, Yong SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr. 1981 Aug. 99(2): 223-7.
  4. https://emedicine.medscape.com/artic le/942350-followup.
  5. https://rarediseases.org/rarediseases/charge-syndrome/.
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