Journal of Clinical Medicine Research, ISSN 1918-3003 print, 1918-3011 online, Open Access
Article copyright, the authors; Journal compilation copyright, J Clin Med Res and Elmer Press Inc
Journal website http://www.jocmr.org

Case Report

Volume 8, Number 1, January 2016, pages 56-58


Newly Emerging Feeding Difficulties in a 33-Year-Old Adult With CHARGE Syndrome

Table

Table 1. Phenotypic Features of CHARGE Syndrome
 
Present caseFrequency [11]
aInclude a square face, flat mid-face, and prominent forehead [11].
Major criteria [2, 3]
  ColobomaYes75-90%
  Choanal atresia/stenosisNo65%
Hypoplasia of semicircular canalsNot tested90%
Minor criteria [2, 3]
  Cranial nerve anomalies (hearing, swallowing problems)Yes50-90%
  Growth deficiencyYes70-80%
  Malformation of the internal/external earYes90-100%
  Cardiovascular abnormalitiesYes50-85%
  Developmental delayYes70%
  Cleft lip/palateYes15-20%
  Genital hypoplasiaYes50-70%
  Distinct CHARGE facial featuresaYesN/A