Denouement and Discussion
Major manifestations include colobomata of the eye and CNS anomalies, heart disease, atresia choanae, retardated growth and development, genital hypoplasia, and ear abnormalities and/or deafness (CHARGE association). Micrognathia, cleft palate, and facial palsy have also been observed. The colobomata affect the retina or optic nerve more frequently than the iris and, therefore, may escape detection. No specific type of congenital heart disease is present. Deafness is usually of the senorineural type. Other manifestations are swallowing difficulties, tracheoesophageal fistula, partial DiGeorge's syndrome, and Kallmann's syndrome (absence of smell and hypogonadotropic hypogonadism).
Although it most likely occurs sporadically, autosomal dominant and recessive inheritance have been reported. No abnormalities have been detected on chromosomal analysis, but karyotypes should be done to rule out trisomy 13, 4p-syndrome, and the cateye syndrome, all of which share some phenotypic similarities with the CHARGE