Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.

Craniosynostosis are a heterogeneous group of genetic conditions characterized by the premature fusion of the skull bones. The most common forms of craniosynostosis are Crouzon, Apert and Pfeiffer syndromes. They differ from each other in various additional clinical manifestations, e.g., syndactyly is typical of Apert and rare in Pfeiffer syndrome. Their inheritance is autosomal dominant with incomplete penetrance and one of the main genes responsible for these syndromes is FGFR2, mapped on chromosome 10, encoding fibroblast growth factor receptor 2. We report an FGFR2 gene variant in a mother and daughter who present with different clinical features of Crouzon syndrome. The daughter is more severely affected than her mother, as also verified by a careful study of the face and oral cavity. The c.1032G>A transition in exon 8, already reported as a synonymous p.Ala344 = variant in Crouzon patients, also activates a new donor splice site leading to the loss of 51 nucleotides and the in-frame removal of 17 amino acids. We observed lower FGFR2 transcriptional and translational levels in the daughter compared to the mother and healthy controls. A preliminary functional assay and a molecular modeling added further details to explain the discordant phenotype of the two patients.

Asymmetry index for the photogrammetric assessment of facial asymmetry.

INTRODUCTION: Facial asymmetry is common and can be clinically related to dental malocclusion, facial bone development, muscular imbalance, and soft tissues thickness, which should be assessed during diagnosis to choose proper treatment options. This study aimed to quantify the amount of symmetry/asymmetry in previously defined symmetrical and asymmetrical subjects, analyzing full-face 3-dimensional images. METHODS: Seventy-six orthodontic patients' 3-dimensional face images were obtained with the 3dMD Trio-system (Atlanta, Ga) and processed with the Geomagic Control (64-bit; 3D Systems, Rock Hill, SC) software. Patients were divided into symmetrical and asymmetrical groups through a surface-based technique. Sixteen facial landmarks were positioned, an asymmetry index was calculated for each landmark, and an evaluation diagram of facial asymmetry was created through the asymmetry index mean and standard deviation of symmetrical and asymmetrical landmarks. RESULTS: The asymmetry index mean varied from 0.05 to 1.51 in the symmetrical group and from 0.05 to 2.84 in the asymmetrical group. This study suggests that landmarks located in the lower third of the face have a greater asymmetry index than other landmarks. CONCLUSIONS: The landmark-based technique does not exhibit statistically significant differences among asymmetrical and symmetrical patients for some landmarks. This approach provides useful information about the localization and the extension of asymmetry, in which bilateral landmarks showed a higher amount of asymmetry than median landmarks.

A comparison between stereophotogrammetry and smartphone structured light technology for three-dimensional face scanning.

OBJECTIVES: To compare three-dimensional facial scans obtained by stereophotogrammetry with two different applications for smartphone supporting the TrueDepth system, a structured light technology. MATERIALS AND METHODS: Facial scans of 40 different subjects were acquired with three different systems. The 3dMDtrio Stereophotogrammetry System (3dMD, Atlanta, Ga) was compared with a smartphone (iPhone Xs; Apple, Cupertino, Calif) equipped with the Bellus3D Face Application (version 1.6.11; Bellus3D Inc, Campbell, Calif) or Capture (version 1.2.5; Standard Cyborg Inc, San Francisco, Calif). Times of image acquisition and elaboration were recorded. The surface-to-surface deviation and the distance between 18 landmarks from 3dMD reference images to those acquired with Bellus3D or Capture were measured. RESULTS: Capturing and processing times with the smartphone applications were considerably longer than with the 3dMD system. The surface-to-surface deviation analysis between the Bellus3D and 3dMD showed an overlap percentage of 80.01% ± 5.92% and 56.62% ± 7.65% within the ranges of 1 mm and 0.5 mm discrepancy, respectively. Images from Capture showed an overlap percentage of 81.40% ± 9.59% and 56.45% ± 11.62% within the ranges of 1 mm and 0.5 mm, respectively. CONCLUSIONS: The face image acquisition with the 3dMD device is fast and accurate, but bulky and expensive. The new smartphone applications combined with the TrueDepth sensors show promising results. They need more accuracy from the operator and more compliance from the patient because of the increased acquisition time. Their greatest advantages are related to cost and portability.

Influence of Dental Composite Viscosity in Attachment Reproduction: An Experimental in Vitro Study.

BACKGROUND: Attachments are composite auxiliaries that are used during a clear aligner orthodontic therapy to achieve difficult tooth movements. Two important factors are the planned configuration and the actual position of these auxiliary elements to obtain the desired force system. The aim of the present study was to evaluate the role of different composite materials in the correct reproduction of attachment shape and position. METHODS: The materials that were considered in the study were a flowable resin, a dental restorative material, and an orthodontic composite. The attachments were created on three models of extracted teeth. Once the impressions were performed, 25 attachments of different shapes were added onto each virtual model to obtain the necessary templates to make the attachments. Each tested material was used to create a set of 25 attachments that were then scanned with an accuracy of 10µm. The resultant STL (stereolithography) files were superimposed onto the ones from the initial virtual plan, through Geomagic software, and the aligned scans were then compared while using a color map. The parameters that were calculated to make a comparison between the created attachments and the ideal ones were the maximum deviation in defect and in excess, the overflow, and the volume's difference. In addition to these measurements comparing the three above-mentioned groups, the difference in volume between all the ideal and realized samples were analyzed. To test for differences among the three groups, a one-way Analysis of variance (ANOVA) was used with a Bonferroni post-hoc test. The level of significance was set at p < 0.05. RESULTS: No statistically significant results were found between the three groups regarding the maximum value in defect, the maximum value in excess, and the minimum value as control, while a statistically significant difference was found between the overflow of orthodontic resin when compared to the flowable composite. CONCLUSIONS: The three materials that were used in this study were appropriate for attachment fabrication. The fidelity of attachment reproduction was similar when using the three different composites. The orthodontic composite showed more overflow when compared with the flowable one.

Volumetric analysis of cleft lip deformity using 3D stereophotogrammetry.

PURPOSE: To quantify and compare pre-operative and post-operative volumetric adjustments of the upper lip tissues in patients with cleft lip. METHODS: The authors performed an anthropometric study and a quantitative analysis of the differences based on three-dimensional morphology of the nasolabial area. Twenty facial images using the three-dimensional stereophotogrammetry were taken from ten selected subjects on two separate occasions, sitting in natural head position. Facial landmarks were marked and measurements recorded, in order to calculate the volumetric adjustments in the soft tissues of the upper lip, comparing the preoperative and postoperative results. Student test and p-Value were performed for statistical analysis. RESULTS: The analysis of the 3D images showed variability with the pre- and postoperative volumes of the nasolabial area with: an increase of upper lip volume all patients; a complete view of the severity in the preoperative; and an improvement of the appearance in the postoperative. The amount of increase of the upper lip volume was established about 29,7%. For all measurements, the variability between pre- and post-operative was significant (p < 0.01). CONCLUSION: The 3D stereophotogrammetry technique allows a detailed preoperative evaluation and an accurate assessment of the surgical outcomes. The study provides a value of volumetric variation of the upper lip in individuals with cleft lip. KEY WORDS: Cleft lip, Nasolabial area, 3D Morphological Analysis, 3D Stereophotogrammetry, Upper lip volume.

Lay People Esthetic Evaluation of Primary Surgical Repair on Three-Dimensional Images of Cleft Lip and Palate Patients.

Background and Objectives: Previous literature has disclosed that facial attractiveness affects the esthetic evaluation of nose and lip deformity on frontal and lateral photographs. However, it has never been debated if the removal of the external facial features on three-dimensional (3D) models ("cropped assessment bias") could provide a considerable usefulness in the interpretation and comparison of the results. Additionally, it has been assumed on two-dimensional (2D) studies that esthetic assessment biases with respect to observer gender, and it is not acknowledged if and to the extent that "gender assessment bias" may be influenced by a three-dimensional layout. The aim of this study is to investigate if facial traits and observers' gender may affect the esthetic ratings of unilateral cleft lip and palate (UCLP) patients after soft tissue reconstruction. Materials and Methods: Three-dimensional images of ten UCLP patients' images were acquired before the intervention (T0), one-month (T1) and six-months (T2) postoperative. Geomagic® software (version 2014; 3D Systems, Rock Hill, SC, USA) was used to remove the external facial features of 3D surface models. Five-point scale developed by Asher-McDade et al. was used to rate both nasolabial attractiveness and impairment for full-face (FF) and cropped-face (CF) 3D images. Forty-three judges (21 males, 22 females) were enrolled for the esthetic evaluation. Intraclass correlation coefficient (ICC) was used to test intra- and inter-examiner reliability; a value of 0.7 was set as the minimum acceptable level of reliability. Results: When comparing the 2 sets of observations (FF and CF), the ICC ranged from 0.654 to 0.823. Concerning gender assessment bias, the ICC ranged from 0.438 to 0.686 and from 0.722 to 0.788 for males and females, respectively. Concerning inter-examiner reliability, ICC for questions 2-7 ranged from 0.448 to 0.644 and from 0.659 to 0.817 at T0 and T2, respectively. Conclusions: The removal of external facial features provides subtle differences on the esthetic assessment of UCLP patients. Moreover, based on our data, examiners' gender differences may affect esthetic assessment of UCLP patients. Despite the subjectivity of esthetic judgments, a reliable, validated and reproducible scoring protocol should consider the influence of gender differences on 3D esthetic assessment of UCLP patients.