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

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...

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Publicado en:Cleft Palate Craniofacial Journal Vol. 43; no. 4; pp. 446 - 457
Autores principales: Ruotolo RA, Veitia NA, Corbin A, McDonough J, Solot CB, McDonald-McGinn D, Zackai EH, Emanuel BS, Cnaan A, LaRossa D, Arens R, Kirschner RE
Formato: pictorial research tables/charts Journal Article
Publicado: Sage Publications Inc. Jul2006
Acceso en línea:Ver este registro en EBSCOhost
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      dt: Jul2006
      vid: 43
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      pub: Sage Publications Inc.
      place: Thousand Oaks, California
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        10.1597/04-193.1
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        106247752
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        atl: Velopharyngeal anatomy in 22q11.2 deletion syndrome: a three-dimensional cephalometric analysis.
      aug:
        au:
          Ruotolo RA
          Veitia NA
          Corbin A
          McDonough J
          Solot CB
          McDonald-McGinn D
          Zackai EH
          Emanuel BS
          Cnaan A
          LaRossa D
          Arens R
          Kirschner RE
        affil: Plastic Surgery Resident, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania
      sug:
        subj:
          Chromosome Disorders Pathology
          Chromosomes
          Mutation
          Palate, Soft Pathology
          Adenoids Pathology
          Case Control Studies
          Cephalometry
          Child
          Child, Preschool
          Chromosome Disorders Complications
          Descriptive Statistics
          Female
          Magnetic Resonance Imaging
          Male
          Pharynx Pathology
          Retrospective Design
          Sample Size
          Skull Abnormalities
          Syndrome
          T-Tests
          Tonsil Pathology
          Two-Tailed Test
          Wilcoxon Rank Sum Test
          Human
          Child: 6-12 years
          Child, Preschool: 2-5 years
          Female
          Male
      ab: 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 Ti- 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 atlanto-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.
      pubtype: Academic Journal
      doctype:
        pictorial
        research
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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