Otorhinolaryngologic Manifestations in Charge Association

Abstract

CHARGE syndrome is a recognizable multiple-malformation Syndrome although much evidence points towards genetic causation, the aetiology of this condition remains unknown .At present, the criteria include more than 20 physical anomalies, deficits in all sensory modalities, and a behavioral phenotype that is unique and diagnosis is based on clinical evaluation of the presence of certain major and minor features. The acronym "CHARGE" denotes the non-random association of coloboma, heart anomalies, choanal atresia, retardation of growth and development, and genital and ear anomalies, which are frequently present in various combinations and to varying degrees in individuals with CHARGE syndrome. No single feature is universally present or sufficient for the clinical diagnosis of CHARGE syndrome, and numerous guidelines have been published to aid in establishing a likely clinical diagnosis. Our results agreed with the results of other researches about CHARGE association.