Presence of 22q11 deletion in postadenoidectomy velopharyngeal insufficiency

Background: Velopharyngeal insufficiency is an uncommon complication of ade noidectomy. Persistent velopharyngeal insufficiency following adenoidectomy (VIA) may occur in association with an unrecognized syndrome, such as velo cardiofacial syndrome (VCFS). Although the diagnosis of VCFS is primarily a clinical one, a test has been developed to identify the underlying chromos omal abnormality, ie, deletion of 22q11. Objective: To describe characteristics and occurrence of the 22q11 deletion in a population with VIA. Setting: Three tertiary referral centers. Design: Retrospective case series of 23 patients with VIA who required inte rvention and had follow-up for more than 1 year. These patients' medical re cords were reviewed for indications for adenoidectomy, the presence of 22q1 1 deletion and whether a 22q11 deletion test was obtained, phenotypic evide nce for VCFS, presence of a submucous cleft palate, velopharyngeal closure pattern, and type of speech intervention. Results: Of the 23 patients, 9 underwent adenoidectomy for otitis media, 9 for obstructive sleep symptoms, and 5 for sinusitis therapy. Fourteen of th e 23 patients were tested for a 22q11 deletion. Of these 14 patients, 9 had a 22q11 deletion with 5 having phenotypic evidence for VCFS. Six of the 23 patients had a submucous cleft palate, 2 of whom had a 22q11 deletion. Conclusions: Although VIA is uncommon, its occurrence should alert the otol aryngologist to the possibility of an underlying syndrome diagnosis. The 22 q11 deletion test is beneficial in diagnosing patients with genotypic, but not phenotypic, VCFS in this population. In tested subjects of our patient population, 28% (4 patients) had the genotype for VCFS, without clinical ev idence of VCFS.