22q11.2 deletion detected by endoscopic observation of pharyngeal pulsations in a child with submucous cleft palate and persistent velopharyngeal insufficiency

Abstract

22q11.2 microdeletion syndrome (22q11.2DS) is the most common syndrome associated with cleft palate and velopharyngeal insufficiency (VPI). Over 180 clinical features have been described. Most common features include: cardiac malformations, cleft palate, velopharyngeal insufficiency, characteristic facial features, hypotonia, behavioral disorders, and musculoskeletal disorders among several other fenotipical features. A case of 22q11.2DS confirmed by cytogenomic analysis is presented with review of the literature. Main clinical features were a submucous cleft palate (SMCP) with persistent VPI after palatoplasty, an ectopic left internal carotid artery and a prominent aortic root. VPI was corrected with a pharyngeal flap, tailored according to findings of videonasopharyngoscopy, videofluoroscopy and neck CT scan with contrast.