Craniofacial morphology in patients with velocardiofacial syndrome

Cleft Palate Craniofac J. 2010 May;47(3):241-6. doi: 10.1597/08-278.1.

Abstract

Objective: To compare cephalometric measurements of patients with and without velocardiofacial syndrome.

Design: Cross-sectional.

Setting: Public tertiary craniofacial center.

Subjects: Lateral cephalograms of 18 patients with velocardiofacial syndrome and 18 controls without morphofunctional alterations, matched for gender and age; all cephalograms were obtained before orthodontic intervention.

Main outcome measures: The cephalograms were manually traced and digitized for the achievement of linear and angular measurements.

Results: Individuals with velocardiofacial syndrome presented a reduced length of the skull base, retrusion of nasal bones, reduced posterior height of the maxilla, increased gonial angle, increased interincisal angle, greater lingual inclination of the mandibular incisors, reduced nasolabial angle, and reduced nasal depth compared with the control group.

Conclusions: Patients with velocardiofacial syndrome presented morphological differences compared with individuals without morphofunctional alterations, which might be considered in the evaluation of patients with suspected diagnosis of the syndrome, as well as for the establishment of treatment protocols adequate to their needs. The present findings did not support the hypothesis of differences in pharyngeal dimensions mentioned by other authors, suggesting that the velopharyngeal insufficiency in these patients may be caused by functional alterations rather than by anatomical differences.

MeSH terms

  • Cephalometry
  • Craniofacial Abnormalities / diagnostic imaging
  • Craniofacial Abnormalities / physiopathology
  • Cross-Sectional Studies
  • DiGeorge Syndrome / diagnostic imaging*
  • DiGeorge Syndrome / physiopathology*
  • Female
  • Humans
  • Male
  • Maxillofacial Development
  • Radiography