Velopharyngeal anatomy in 22q11.2 deletion syndrome: A three-dimensional cephalometric analysis

Rachel A. Ruotolo, Nestor A. Veitia, Aaron Corbin, Joseph McDonough, Cynthia B. Solot, Donna McDonald-McGinn, Elaine H. Zackai, Beverly S. Emanuel, Avital Cnaan, Don LaRossa, Raanan Arens, Richard E. Kirschner

Research output: Contribution to journalArticlepeer-review

58 Scopus citations


Objective: 22q11.2 deletion syndrome is the most common genetic cause of velopharyngeal dysfunction (VPD). Magnetic resonance imaging (MRI) is a promising method for noninvasive, three-dimensional (3D) assessment of velopharyngeal (VP) anatomy. The purpose of this study was to assess VP structure in patients with 22q11.2 deletion syndrome by using 3D MRI analysis. Design: This was a retrospective analysis of magnetic resonance images obtained in patients with VPD associated with a 22q11.2 deletion compared with a normal control group. Setting: This study was conducted at The Children's Hospital of Philadelphia, a pediatric tertiary care center. Patients, Participants: The study group consisted of 5 children between the ages of 2.9 and 7.9 years, with 22q11.2 deletion syndrome confirmed by fluorescence in situ hybridization analysis. All had VPD confirmed by nasendoscopy or videofluoroscopy. The control population consisted of 123 unaffected patients who underwent MRI for reasons other than VP assessment. Interventions: Axial and sagittal T1- and T2-weighted magnetic resonance images with 3-mm slice thickness were obtained from the orbit to the larynx in all patients by using a 1.5T Siemens Visions system. Outcome Measures: Linear, angular, and volumetric measurements of VP structures were obtained from the magnetic resonance images with VIDA image-processing software. Results: The study group demonstrated greater anterior and posterior cranial base and attlanto-dental angles. They also demonstrated greater pharyngeal cavity volume and width and lesser tonsillar and adenoid volumes. Conclusion: Patients with a 22q11.2 deletion demonstrate significant alterations in VP anatomy that may contribute to VPD.

Original languageEnglish (US)
Pages (from-to)446-456
Number of pages11
JournalCleft Palate-Craniofacial Journal
Issue number4
StatePublished - Jul 2006
Externally publishedYes


  • 22q11.2 deletion syndrome
  • Magnetic resonance imaging
  • Velopharyngeal dysfunction

ASJC Scopus subject areas

  • Oral Surgery
  • Otorhinolaryngology


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