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


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.
Wang
Ke
K
Center for Craniofacial Cleft Palate, Department of Oral and Maxillofacial Surgery, the 9th People's Hospital affiliated to Shanghai Jiao Tong University School of Medicine, No. 639 Zhi Zao Ju Rd, Shanghai, 200011, China. guomin@sh163b.sta.net.cn
Yang
Yusheng
Y
Shen
Fang
F
Tao
Jiang
J
Xu
Haisong
H
Portnof
Jason E
JE
Wang
Guomin
G
Salyer
Kenneth E
KE
D000293:Adolescent; D016022:Case-Control Studies; D002508:Cephalometry; D002648:Child; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003430:Cross-Sectional Studies; D004062:DiGeorge Syndrome / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics*; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional / Q000379:methods; D008297:Male; D021362:Palate, Hard / Q000000981:diagnostic imaging / Q000473:pathology; D010641:Phenotype; D019252:Radiography, Dental, Digital / Q000706:statistics & numerical data*; D012189:Retrospective Studies; D017384:Sequence Deletion; D036542:Tomography, Spiral Computed / Q000706:statistics & numerical data; D014681:Velopharyngeal Insufficiency / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics; D014716:Vertical Dimension