Stefaan J. Bergé

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.

We conducted a genome-wide association study involving 224 cases and 383 controls of Central European origin to identify susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). A 640-kb region at chromosome 8q24.21 was found to contain multiple markers with highly significant evidence for association with the cleft phenotype, including three markers that reached genome-wide significance. The 640-kb cleft-associated region was saturated with 146 SNP markers and then analyzed in our entire NSCL/P sample of 462 unrelated cases and 954 controls. In the entire sample, the most significant SNP (rs987525) had a P value of 3.34 × 10−24. The odds ratio was 2.57 (95% CI = 2.02–3.26) for the heterozygous genotype and 6.05 (95% CI = 3.88–9.43) for the homozygous genotype. The calculated population attributable risk for this marker is 0.41, suggesting that this study has identified a major susceptibility locus for NSCL/P.

Position of the impacted third molar in relation to the mandibular canal. Diagnostic accuracy of cone beam computed tomography compared with panoramic radiography.

This study investigated the diagnostic accuracy of cone beam computed tomography (CBCT) compared to panoramic radiography in determining the anatomical position of the impacted third molar in relation with the mandibular canal. The study sample comprised 53 third molars from 40 patients with an increased risk of inferior alveolar nerve (IAN) injury. The panoramic and CBCT features (predictive variables) were correlated with IAN exposure and injury (outcome variables). Sensitivity and specificity of modalities in predicting IAN exposure were compared. The IAN was exposed in 23 cases during third molar removal and injury occurred in 5 patients. No significant difference in sensitivity and specificity was found between both modalities in predicting IAN exposure. To date, lingual position of the mandibular canal was significantly associated with IAN injury. CBCT was not more accurate at predicting IAN exposure during third molar removal, however, did elucidate the 3D relationship of the third molar root to the mandibular canal; the coronal sections allowed a bucco-lingual appreciation of the mandibular canal to identify cases in which a lingually placed IAN is at risk during surgery. This observation dictates the surgical approach how to remove the third molar, so the IAN will not be subjected to pressure.

Evaluation of reproducibility and reliability of 3D soft tissue analysis using 3D stereophotogrammetry

In 3D photographs the bony structures are neither available nor palpable, therefore, the bone-related landmarks, such as the soft tissue gonion, need to be redefined. The purpose of this study was to determine the reproducibility and reliability of 49 soft tissue landmarks, including newly defined 3D bone-related soft tissue landmarks with the use of 3D stereophotogrammetric images. Two observers carried out soft-tissue analysis on 3D photographs twice for 20 patients. A reference frame and 49 landmarks were identified on each 3D photograph. Paired Students t-test was used to test the reproducibility and Pearsons correlation coefficient to determine the reliability of the landmark identification. Intra- and interobserver reproducibility of the landmarks were high. The study showed a high reliability coefficient for intraobserver (0.97 (0.90 - 0.99)) and interobserver reliability (0.94 (0.69 - 0.99)). Identification of the landmarks in the midline was more precise than identification of the paired landmarks. In conclusion, the redefinition of bone-related soft tissue 3D landmarks in combination with the 3D photograph reference system resulted in an accurate and reliable 3D photograph based soft tissue analysis. This shows that hard tissue data are not needed to perform accurate soft tissue analysis.

Comparison of Cephalometric Radiographs Obtained From Cone-Beam Computed Tomography Scans and Conventional Radiographs

PURPOSE We evaluated whether measurements on conventional cephalometric radiographs are comparable to measurements on cone-beam computed tomography (CBCT)-constructed cephalometric radiographs taken from human skulls. MATERIALS AND METHODS The CBCT scans and conventional cephalometric radiographs were made using 40 dry skulls. With I-Cat Vision software (Imaging Sciences International, Inc, Hatfield, PA), a cephalometric radiograph was constructed from the CBCT scan. Standard cephalometric software was used to identify landmarks, and calculate distances and angles. The same operator identified 15 landmarks on both types of cephalometric radiographs on all images 5 times with a 1-week interval. RESULTS Intraobserver reliability was good for all measurements. The reproducibility of measurements on cephalometric radiographs obtained from CBCT scans was better, compared with the reproducibility of those on conventional cephalometric radiographs. There was no clinically relevant difference between measurements on conventional and constructed cephalometric radiographs. CONCLUSIONS Measurements on CBCT-constructed cephalometric radiographs are comparable to conventional cephalometric radiographs, and are therefore suitable for longitudinal research.

The accuracy of matching three-dimensional photographs with skin surfaces derived from cone-beam computed tomography

The state-of-the-art diagnostic tools in oral and maxillofacial surgery and preoperative orthodontic treatment are mainly two-dimensional, and consequently reveal limitations in describing the three-dimensional (3D) structures of a patients face. New 3D imaging techniques, such as 3D stereophotogrammetry (3D photograph) and cone-beam computed tomography (CBCT), have been introduced. Image fusion, i.e. registration of a 3D photograph upon a CBCT, results in an accurate and photorealistic digital 3D data set of a patients face. The purpose of this study was to determine the accuracy of three different matching procedures. For 15 individuals the textured skin surface (3D photograph) and untextured skin surface (CBCT) were matched by two observers using three different methods to determine the accuracy of registration. The registration error was computed as the difference (mm) between all points of both surfaces. The registration errors were relatively large at the lateral neck, mouth and around the eyes. After exclusion of artefact regions from the matching process, 90% of the error was within+/-1.5 mm. The remaining error was probably caused by differences in head positioning, different facial expressions and artefacts during image acquisition. In conclusion, the 3D data set provides an accurate and photorealistic digital 3D representation of a patients face.

Registration of 3-Dimensional Facial Photographs for Clinical Use

PURPOSE To objectively evaluate treatment outcomes in oral and maxillofacial surgery, pre- and post-treatment 3-dimensional (3D) photographs of the patients face can be registered. For clinical use, it is of great importance that this registration process is accurate (< 1 mm). The purpose of this study was to determine the accuracy of different registration procedures. MATERIALS AND METHODS Fifteen volunteers (7 males, 8 females; mean age, 23.6 years; range, 21 to 26 years) were invited to participate in this study. Three-dimensional photographs were captured at 3 different times: baseline (T(0)), after 1 minute (T(1)), and 3 weeks later (T(2)). Furthermore, a 3D photograph of the volunteer laughing (T(L)) was acquired to investigate the effect of facial expression. Two different registration methods were used to register the photographs acquired at all different times: surface-based registration and reference-based registration. Within the surface-based registration, 2 different software packages (Maxilim [Medicim NV, Mechelen, Belgium] and 3dMD Patient [3dMD LLC, Atlanta, GA]) were used to register the 3D photographs acquired at the various times. The surface-based registration process was repeated with the preprocessed photographs. Reference-based registration (Maxilim) was performed twice by 2 observers investigating the inter- and intraobserver error. RESULTS The mean registration errors are small for the 3D photographs at rest (0.39 mm for T(0)-T(1) and 0.52 mm for T(0)-T(2)). The mean registration error increased to 1.2 mm for the registration between the 3D photographs acquired at T(0) and T(L). The mean registration error for the reference-based method was 1.0 mm for T(0)-T(1), 1.1 mm for T(0)-T(2), and 1.5 mm for T(0) and T(L). The mean registration errors for the preprocessed photographs were even smaller (0.30 mm for T(0)-T(1), 0.42 mm for T(0)-T(2), and 1.2 mm for T(0) and T(L)). Furthermore, a strong correlation between the results of both software packages used for surface-based registration was found. The intra- and interobserver error for the reference-based registration method was found to be 1.2 and 1.0 mm, respectively. CONCLUSION Surface-based registration is an accurate method to compare 3D photographs of the same individual at different times. When performing the registration procedure with the preprocessed photographs, the registration error decreases. No significant difference could be found between both software packages that were used to perform surface-based registration.

Accuracy and Reproducibility of Voxel Based Superimposition of Cone Beam Computed Tomography Models on the Anterior Cranial Base and the Zygomatic Arches

Superimposition of serial Cone Beam Computed Tomography (CBCT) scans has become a valuable tool for three dimensional (3D) assessment of treatment effects and stability. Voxel based image registration is a newly developed semi-automated technique for superimposition and comparison of two CBCT scans. The accuracy and reproducibility of CBCT superimposition on the anterior cranial base or the zygomatic arches using voxel based image registration was tested in this study. 16 pairs of 3D CBCT models were constructed from pre and post treatment CBCT scans of 16 adult dysgnathic patients. Each pair was registered on the anterior cranial base three times and on the left zygomatic arch twice. Following each superimposition, the mean absolute distances between the 2 models were calculated at 4 regions: anterior cranial base, forehead, left and right zygomatic arches. The mean distances between the models ranged from 0.2 to 0.37 mm (SD 0.08–0.16) for the anterior cranial base registration and from 0.2 to 0.45 mm (SD 0.09–0.27) for the zygomatic arch registration. The mean differences between the two registration zones ranged between 0.12 to 0.19 mm at the 4 regions. Voxel based image registration on both zones could be considered as an accurate and a reproducible method for CBCT superimposition. The left zygomatic arch could be used as a stable structure for the superimposition of smaller field of view CBCT scans where the anterior cranial base is not visible.

3D Stereophotogrammetric assessment of pre- and postoperative volumetric changes in the cleft lip and palate nose

In cleft lip and palate patients the shape of the nose invariably changes in three dimensions (3D) due to rhinoplastic surgery. The purpose of this study was to evaluate stereophotogrammetry as a 3D method to document volumetric changes of the nose in patients with a cleft lip (CL) or cleft lip and palate (CLP) after secondary open rhinoplasty. 12 patients with unilateral CL or CLP were enrolled in the study prospectively. 3D facial images were acquired using 3D stereophotogrammetry preoperatively and 3 months postoperatively. A 3D cephalometric analysis of the nose was performed and volumetric data were acquired. The reliability of the method was tested by performing an intra- and inter-observer analysis. Left, right and total nasal volumes and symmetry were compared. No statistically significant differences (p<0.05) were found within and between observers for the measured volumes and symmetry. Postoperatively, the total volume of the nose increased significantly, especially the volume at the cleft side. No significant volume difference pre- and postoperatively was found for the non-cleft side. The symmetry of the nose improved significantly. 3D stereophotogrammetry is a sensitive, quick, non-invasive method for evaluating volumetric changes of the nose in patients with cleft lip or cleft lip and palate.

Integration of digital dental casts in 3-dimensional facial photographs

INTRODUCTION Since 1915, various researchers have tried to make a 3-dimensional (3D) model of the complete face, with the dentition in the anatomically correct position. This was a difficult and time-consuming process. With the introduction of 3D digital imaging of the face and dental casts, researchers have regained interest in this topic. The purpose of this technical report is to present a feasibility study of the integration of a digital dental cast into a 3D facial picture. METHODS For the integration, 3 digital data sets were constructed: a digital dental cast, a digital 3D photograph of the patient with the teeth visible, and a digital 3D photograph of the patient with the teeth in occlusion. By using a special iterated closest point algorithm, these 3 data sets were matched to place them in the correct anatomical position. RESULTS After matching the 3 data sets, we obtained a 3D digital model with the dental cast visible through the transparent picture of the patients face. When the distance between the matched data sets was calculated, an average distance of 0.35 mm (SD, 0.32 mm) was shown. This means that matching the data sets is acceptable. CONCLUSIONS It seems technically possible to make a data set of a patients face with the dentition positioned into this 3D picture. Future research needs to establish the value of this 3D fused data set of the face and the dentition in orthodontic diagnosis and treatment planning.

A comparison between 2D and 3D cephalometry on CBCT scans of human skulls

The purpose of this study was to evaluate whether measurements on conventional cephalometric radiographs are comparable with 3D measurements on 3D models of human skulls, derived from cone beam CT (CBCT) data. A CBCT scan and a conventional cephalometric radiograph were made of 40 dry skulls. Standard cephalometric software was used to identify landmarks on both the 2D images and the 3D models. The same operator identified 17 landmarks on the cephalometric radiographs and on the 3D models. All images and 3D models were traced five times with a time-interval of 1 week and the mean value of repeated measurements was used for further statistical analysis. Distances and angles were calculated. Intra-observer reliability was good for all measurements. The reproducibility of the measurements on the conventional cephalometric radiographs was higher compared with the reproducibility of measurements on the 3D models. For a few measurements a clinically relevant difference between measurements on conventional cephalometric radiographs and 3D models was found. Measurements on conventional cephalometric radiographs can differ significantly from measurements on 3D models of the same skull. The authors recommend that 3D tracings for longitudinal research are not used in cases were there are only 2D records from the past.