title: The role of cephalometry in assessing velopharyngeal dysfunction in velocardiofacial syndrome.
abstract: OBJECTIVE
  To report our experience with cephalometry in evaluating velopharyngeal dysfunction (VPD) in velocardiofacial syndrome (VCFS) and its utility in assessing the role of cervical spine abnormalities in VPD, prior to surgical correction of VPD.
  
  
  METHODS
  Clinical charts and cephalometric radiographs done prior to surgery for VPD were retrospectively analyzed to ascertain velopharyngeal measurements and cervical spine abnormalities.
  
  
  METHODS
  Twenty-six patients (age: 6-23 years) with molecularly confirmed VCFS.
  
  
  METHODS
  Wake Forest University Health Sciences (1997-2005).
  
  
  METHODS
  Cranial base angle, nasopharyngeal depth, velum length, and Need ratio at rest, velar dimple location, and velopharyngeal length during phonation; information on presence/absence of submucous cleft palate and cervical spine abnormalities were also obtained. The relationship between C1 anterior arch abnormalities and Need ratio was examined.
  
  
  RESULTS
  Seventy-three percent of the VCFS patients had excessive nasopharyngeal depth, 80% had an abnormal Need ratio, 50% had a short velum, 81% had a submucous or occult submucous cleft palate, 90.5% had a cervical spine abnormality (C1 anterior arch abnormalities in 38%) and 11.5% had platybasia. There was a significant difference in the Need ratio between patients with and without C1 anterior arch abnormalities.
  
  
  CONCLUSIONS
  Cephalometry can be used to delineate factors such as C1 vertebral abnormalities, excessive pharyngeal depth, and short velum that contribute to VPD in VCFS. This would help otolaryngologists better understand the anatomy prior to surgical treatment of VPD. This is the first study to highlight the frequent occurrence of C1 anterior arch abnormalities in VCFS.
authors.affiliation: Duke University Medical Center, Division of Medical Genetics, Department of Pediatrics, Durham, North Carlolina 27710, USA.
authors.forename: Aravindhan
authors.initials: A
authors.lastname: Veerapandiyan
authors.forename: David
authors.initials: D
authors.lastname: Blalock
authors.forename: Srija
authors.initials: S
authors.lastname: Ghosh
authors.forename: Edward
authors.initials: E
authors.lastname: Ip
authors.forename: Craig
authors.initials: C
authors.lastname: Barnes
authors.forename: Vandana
authors.initials: V
authors.lastname: Shashi
mesh_terms: D000293:Adolescent; D002508:Cephalometry / Q000379:methods*; D002574:Cervical Vertebrae / Q000002:abnormalities / Q000601:surgery; D002648:Child; D002972:Cleft Palate / Q000175:diagnosis / Q000503:physiopathology / Q000601:surgery; D004062:DiGeorge Syndrome / Q000175:diagnosis* / Q000503:physiopathology* / Q000601:surgery; D005260:Female; D006801:Humans; D008297:Male; D010985:Platybasia / Q000175:diagnosis / Q000503:physiopathology / Q000601:surgery; D012189:Retrospective Studies; D014681:Velopharyngeal Insufficiency / Q000175:diagnosis* / Q000503:physiopathology* / Q000601:surgery; D055815:Young Adult