Videonasopharyngoscopy in patients with 22q11.2 deletion syndrome (Shprintzen syndrome)

Abstract

Introduction: Velo-cardio-facial syndrome (VCFS) (also known as DiGeorge sequence, conotruncal anomaly face syndrome, 22q11.2 deletion syndrome among other labels) is now recognized as the most common syndrome associated with cleft palate and velopharyngeal insufficiency. VCFS has been associated with medially positioned internal carotid arteries. This anomaly has been associated with obvious posterior pharyngeal pulsations seen on videonasopharyngoscopy. The purpose of this paper is to study the role of videonasopharyngoscopy for the evaluation of patients with VCFS and submucous cleft palate. Materials and Methods: Twenty patients with submucous cleft palate, velopharyngeal insufficiency, and 22q11.2 deletion as demonstrated by fluorescence in situ hybridization (FISH) were studied. Also, 20 patients with submucous cleft palate, and without abnormalities in the FISH procedure, were studied as controls. All patients from both groups underwent videonasopharyngoscopy. A double-blind procedure was utilized whereby all videonasopharyngoscopies were independently revised by the two examiners. Results: Both examiners coincided that 17 patients with VCFS demonstrated obvious posterior pharyngeal pulsations seen on videonasopharyngoscopy. In contrast, both examiners agreed that none of the patients from the control group showed posterior pharyngeal pulsations. Conclusions: Videonasopharyngoscopy seems to be a safe and reliable procedure for evaluating patients with VCFS. The observations of posterior pharyngeal wall pulsations on videonasopharyngoscopy should alert clinicians to the diagnosis of VCFS. Also, the findings of videonasopharyngoscopy can be useful for preventing the risk of damage to the carotid arteries during velopharyngeal surgery. This indicates another important role of videonasopharyngoscopy in the preoperative assessment of children for palatopharyngoplasty.