ABSTRACT

CHARGE association, (C-Coloboma; H-Heart defects; A-Atresia of the choanae, R-Retarded growth and development; G-Genital hypoplasia; EEar 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.

Keywords: CHARGE Association, Iris Colobomata, Total Retinal Detachment