title: Posterior choanal atresia: a syndromal disorder.
abstract: Posterior choanal atresia has a significant incidence of associated defects. Recently a constellation of defects, bearing the acronym of CHARGE, has been described. Its entities are (ocular) Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genital hypoplasia and Ear anomalies or hearing loss. Some of these have been previously noted. There are 26 patients in this series, none having the entire CHARGE association, but 7 had several; 3 of the 7 had bilateral choanal atresia. One other patient had a chromosomal defect with an associated heart defect. Two patients had cardiac and other visceral defects. Seven had base of skull abnormalities, 3 of whom had elements of CHARGE, and 9 had congenital hearing loss. Five were normal. CT scan suggests a growth disturbance of the basicranium in some of the patients.
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000601:surgery; D006801:Humans; D009295:Nasal Bone / Q000002:abnormalities; D009296:Nasal Cavity / Q000002:abnormalities* / Q000601:surgery; D009305:Nasopharynx / Q000002:abnormalities* / Q000601:surgery; D013101:Sphenoid Sinus / Q000002:abnormalities; D013577:Syndrome; D014057:Tomography, X-Ray Computed