title: Videonasopharyngoscopy in patients with 22q11.2 deletion syndrome (Shprintzen syndrome).
abstract: BACKGROUND
  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.
  
  
  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.
authors.affiliation: Cleft Palate Clinic, Hospital Gea Gonzalez, 4800 Calzada Tlalpan, Mexico City, D.F. 14000, Mexico. amysunza@terra.com.mx
authors.forename: Antonio
authors.initials: A
authors.lastname: Ysunza
authors.forename: M C
authors.initials: MC
authors.lastname: Pamplona
authors.forename: Elena
authors.initials: E
authors.lastname: Ramírez
authors.forename: Sonia
authors.initials: S
authors.lastname: Canún
authors.forename: M C
authors.initials: MC
authors.lastname: Sierra
authors.forename: Andres
authors.initials: A
authors.lastname: Silva-Rojas
mesh_terms: D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics; D004062:DiGeorge Syndrome / Q000150:complications* / Q000175:diagnosis*; D004724:Endoscopy / Q000379:methods; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009305:Nasopharynx / Q000601:surgery*; D014681:Velopharyngeal Insufficiency / Q000235:genetics; D014743:Videotape Recording