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 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.
Ruotolo
Rachel A
RA
Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Veitia
Nestor A
NA
Corbin
Aaron
A
McDonough
Joseph
J
Solot
Cynthia B
CB
McDonald-McGinn
Donna
D
Zackai
Elaine H
EH
Emanuel
Beverly S
BS
Cnaan
Avital
A
LaRossa
Don
D
Arens
Raanan
R
Kirschner
Richard E
RE
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*