CHARGE association: A case report CHARGE asosi̇asyonu: Bi̇r olgu sunumu

Dilli D., CEYLANER S., Bostanci I., Tök Ö., Dallar Y.

Gulhane Medical Journal, vol.46, no.3, pp.260-263, 2004 (Scopus) identifier

  • Publication Type: Article / Article
  • Volume: 46 Issue: 3
  • Publication Date: 2004
  • Journal Name: Gulhane Medical Journal
  • Journal Indexes: Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.260-263
  • Keywords: CHARGE Association, Iris Colobomata, Total Retinal Detachment
  • Lokman Hekim University Affiliated: No

Abstract

CHARGE association, (C-Coloboma; H-Heart defects; A-Atresia of the choanae, R-Retarded growth and development; G-Genital hypoplasia; E-Ear anomalies) is a relatively rare pattern of multiple congenital abnormalities. In this article, we described a 16-year-old male adolescent with mental retardation, short stature, dysmorphic and asymmetric face appearance, low posterior hair line, prominent ear, iris colobomata in his eyes, congenital ptosis, congenital cataract and total retinal detachment in his right eye, short fourth metacarp in his both hands, increase in lumbar lordosis, micropenis, and scrotal hypoplasia. This case was diagnosed as CHARGE association because of having typical phenotype of this syndrome and reported with literature highlight.