# CHARGE Syndrome in a Six-Month-Old Male Infant: A Case Report

## TL;DR

A six-month-old infant with facial and developmental abnormalities was diagnosed with CHARGE syndrome through clinical evaluation and genetic testing.

## Contribution

This case report adds to the clinical understanding of CHARGE syndrome through a confirmed diagnosis in an infant.

## Key findings

- The infant exhibited facial dysmorphism, delayed growth, and impaired psychomotor development.
- Ophthalmologic and cardiac evaluations confirmed key diagnostic criteria for CHARGE syndrome.
- Genetic testing confirmed the diagnosis of CHARGE syndrome.

## Abstract

CHARGE syndrome, short for coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies, is a rare congenital disorder caused by genetic mutations. The diagnosis is based on a combination of major criteria, such as coloboma of the iris or choroid, choanal atresia, and hypoplastic semicircular canal, and minor criteria, including rhombencephalic dysfunction, hypothalamic-pituitary dysfunction, and malformations of the middle or external ear. Additional associated anomalies include malformations of mediastinal organs (heart, esophagus) and intellectual disability.
We present the case of a six-month-old infant who showed signs of facial dysmorphism, delayed growth, and impaired psychomotor development. Ophthalmologic evaluation revealed chorioretinal coloboma. Cardiac ultrasound revealed a persistent ventricular septal defect. Based on the combination of the clinical findings, CHARGE syndrome was suspected and subsequently confirmed by genetic testing.