AI Summary & Key Takeaways
AI InsightThis case was diagnosed as CHARGE association because of having typical phenotype of this syndrome and reported with literature highlight.
📌 3 Key Takeaways
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.
Özet
CHARGE asosiasyonu, (C-Kolobom; H-Kalp problemleri; A-Arka burun deliklerinin kapalı olması; RBüyüme ve gelişme geriliği; G-Yetersiz cinsel organ gelişimi; E-Kulak anomalileri) çeşitli anomaliler ile karakterize nadir görülen bir konjenital bozukluktur. Bu makalede, mental retarde, boy kısalığı, obezite, dismorfik ve asimetrik yüz görünümü, düşük ense saç çizgisi, kepçe kulak, her iki gözde iris kolobomu, sağ gözde konjenital pitoz, konjenital katarakt ve total retina dekolmanı, her iki elde dördüncü metakarpta kısalık, lomber lordozda artış, mikropenis ve skrotum hipoplazisi bulunan 16 yaşında bir erkek adolesan tanımlanmaktadır. Olgu, CHARGE asosiasyonu tanısı ile literatür ışığında sunulmuştur.