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  • Title: 22q11.2 deletion detected by endoscopic observation of pharyngeal pulsations in a child with submucous cleft palate and persistent velopharyngeal insufficiency.
    Author: Ysunza A, Chaiyasate K, Micale MA, McBrien MM, Bloom DA, Gibson DP, Weinhouse E.
    Journal: Int J Pediatr Otorhinolaryngol; 2014 Oct; 78(10):1789-94. PubMed ID: 25108874.
    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.
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