title: Velopharyngeal anatomy in 22q11.2 deletion syndrome: a three-dimensional cephalometric analysis.
abstract: 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.
  
  
  METHODS
  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.
  
  
  METHODS
  This study was conducted at The Children's Hospital of Philadelphia, a pediatric tertiary care center.
  
  
  METHODS
  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.
  
  
  METHODS
  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.
  
  
  METHODS
  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 atlanto-dental angles. They also demonstrated greater pharyngeal cavity volume and width and lesser tonsillar and adenoid volumes.
  
  
  CONCLUSIONS
  Patients with a 22q11.2 deletion demonstrate significant alterations in VP anatomy that may contribute to VPD.
authors.affiliation: Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
authors.forename: Rachel A
authors.initials: RA
authors.lastname: Ruotolo
authors.forename: Nestor A
authors.initials: NA
authors.lastname: Veitia
authors.forename: Aaron
authors.initials: A
authors.lastname: Corbin
authors.forename: Joseph
authors.initials: J
authors.lastname: McDonough
authors.forename: Cynthia B
authors.initials: CB
authors.lastname: Solot
authors.forename: Donna
authors.initials: D
authors.lastname: McDonald-McGinn
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: Beverly S
authors.initials: BS
authors.lastname: Emanuel
authors.forename: Avital
authors.initials: A
authors.lastname: Cnaan
authors.forename: Don
authors.initials: D
authors.lastname: LaRossa
authors.forename: Raanan
authors.initials: R
authors.lastname: Arens
authors.forename: Richard E
authors.initials: RE
authors.lastname: Kirschner
mesh_terms: D000234:Adenoids / Q000473:pathology; D016022:Case-Control Studies; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000150:complications / Q000473:pathology*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional; D008279:Magnetic Resonance Imaging; D008297:Male; D010160:Palate, Soft / Q000473:pathology*; D014066:Palatine Tonsil / Q000473:pathology; D010614:Pharynx / Q000473:pathology; D012189:Retrospective Studies; D019291:Skull Base / Q000002:abnormalities; D013577:Syndrome; D014681:Velopharyngeal Insufficiency / Q000209:etiology / Q000473:pathology*