Utilization of three-dimensional computed tomography for craniofacial phenotypic analysis in children with velocardiofacial syndrome.

Objectives: To analyze variants of the craniofacial phenotypes in children with velocardiofacial syndrome (VCFS) and children with cleft palates with a new protocol of landmarks using a three-dimensional computed tomography (CT)-reconstructed model in a cross-sectional group experimental design.

Materials And Methods: We present a retrospectively reviewed case series of 21 patients with VCFS, verified by short-tandem repeat techniques, and 20 children with cleft palate with age- and sex-matched controls from the Craniofacial Cleft Department of Oral and Maxillofacial Surgery of the 9th Shanghai People's Hospital. The records during the period between January 2005 and December 2008 were analyzed. The sample population of 41 children in this study was scanned with spiral CT. These images were reconstructed into three-dimensional models by SimPlant 11.2 and were analyzed with a new protocol of landmarks to test the variants of craniofacial phenotypes.

Results: All of the children with VCFS demonstrated velopharyngeal incompetence and craniofacial deformities. Measurements in the standard coordinate system demonstrated significant shorter cranial base, cervical vertebrae, longer maxilla height, and palatal angle. For the velopharyngeal variants, greater depth but lesser width of the pharyngeal cavity was shown in the VCFS group.

Conclusions: Three-dimensional CT can provide precise data on craniofacial variants in children with distinctive morphologic features of VCFS.