Article abstract

A two-years-old boy presenting multiple anomaly syndrome (congenital heart disease, Tetralogy of Fallot, bilateral ear anomalies, and micropenis) was consulted in the Pneumo-allergology unit of Rabat children hospital in Morocco. It was ruled out the possibility of multiple deformities caused by genomic imbalances. The patient was then clinically considered to have CHARGE syndrome, an autosomal dominant multi-system disorder involving defects in multiple organs.