Choanal atresia and its associated anomalies. Further support for the CHARGE Association.
The finding of choanal atresia warrants careful and prompt consideration of other severe congenital anomalies in the newborn. In a chart review of 41 patients with the diagnosis of choanal atresia, 17 patients (41%) had choanal atresia alone while 24 (59%) had at least one other anomaly. Twenty-four (59%) of all patients had bilateral choanal atresia, and 75% of the patients with at least one other anomaly had bilateral choanal atresia. The following features were found to be associated with bilateral choanal atresia: significant structural heart disease (21%), postnatal growth retardation (36%), psychomotor retardation (19%), sensorineural deafness (21%), velopharyngeal discoordination (15%), micrognathia (12%), blocked tear duct (10%), high-arched palate (15%), and facial asymmetry (7%). Twenty-one other anomalies were described. Coloboma was encountered in 10% of our patients and only 3 patients had all of the features originally described in the CHARGE Association. The non-random association of multiple anomalies suggested by the eponym, CHARGE is discussed, and further data is offered for evaluating the child who presents with choanal atresia.
D000015:Abnormalities, Multiple; D002490:Central Nervous System / Q000002:abnormalities*; D002675:Child, Preschool; D003103:Coloboma / Q000150:complications*; D005260:Female; D006130:Growth Disorders / Q000150:complications*; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D009296:Nasal Cavity / Q000002:abnormalities*; D013577:Syndrome