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ZusammenfassungDie primäre Zahndurchbruchsstörung (primary failure of tooth eruption, PFE) ist eine autosomal-dominante Erkrankung welche insbesondere zu einer Störung des Durchbruchs posteriorer Zähne führt und klinisch durch einen seitlich offenen Biss imponiert. Mittlerweile konnten eine Vielzahl von heterozygoten Mutationen des Typ 1 Parathormonrezeptors (PTH1R) mit dem Vorliegen einer PFE in Verbindung gebracht werden. Die Mutationen können alle funktionellen Bereiche des PTH1R erfassen, oder als Deletionsmutanten zu einem verkürzten Rezeptor führen. Erste Untersuchungen mittels in vitro Zellmodellen zeigten Änderungen der Lokalisation des mutierten Rezeptors und dominant negative Effekte auf den Wildtyp-PTH1R.In diesem Übersichtsartikel werden die klinischen Charakteristika der PFE dargestellt und die Problematik der therapeutischen Optionen erörtert. Erste funktionelle Untersuchungen einzelner PTH1R-Mutanten werden erörtert.

The aim of the present study was to analyse the impact of specific orthodontic findings on oral health-related quality of life (OHRQoL) when taking into consideration age and psychological factors in children and adolescents. In all, 250 children and adolescents with an indication for orthodontic diagnostics were recruited using a multicentre study design. Using validated and internationally acknowledged questionnaires, we assessed OHRQoL, health-related quality of life (HRQoL), self-esteem and behavioural problems. We also examined a selection of specific orthodontic findings using photos, model casts and cephalometric analyses, and investigated the impact of these parameters on OHRQoL using simple linear regression analyses. Thereafter, we added all the significant specific orthodontic and psychological parameters to a multiple linear regression model using a stepwise forwards selection procedure. We were able to identify different specific orthodontic findings that have a significant impact on OHRQoL. These were the type of lip closure, the position of the chin, the Little-index of the upper jaw, the overjet, the overbite and the ANB angle. Moreover, we were able to demonstrate that psychological and some specific orthodontic parameters have a significant impact on OHRQoL. Specific orthodontic findings have a significant impact on patients’ perceived OHRQoL. Further longitudinal studies are required to investigate whether the treatment and correction of these malocclusions also improve the OHRQoL of children and adolescents.

Background Orthodontic treatment can successfully align pathologically migrated teeth and lead to improvement of periodontal stability in patients with periodontitis. Periodontic-orthodontic approaches have gained increasing attention in the past years. Here, we investigated the interest of adults affected by chronic periodontitis in undergoing orthodontic treatment as well as patient-related and tooth-related influence factors. Methods Periodontal and orthodontic measurements/indices were taken from 115 adult patients with moderate-to-severe periodontitis. The study participants answered a questionnaire investigating patient demographics, quality of life aspects, and their interest in undergoing orthodontic treatment. Correlations between clinical data, questionnaire responses, and this interest were analyzed by means of an age- and sex-adjusted multiple regression model. Results Two-thirds of the participants were interested in orthodontic therapy and indicated long-term healthy and esthetically appealing teeth as their main motives. A significant correlation was found between subjectively felt impaired dental esthetics and an interest in orthodontic treatment. However, there were no correlations with the severity of periodontitis, tooth alignment, or patient demographics, including sex. Older patients were significantly more often interested in orthodontic treatment. Most participants had never been provided with information about orthodontic treatment options for adults. Conclusions A considerable number of adult patients with periodontitis were interested in orthodontics to improve tooth alignment. However, severity of periodontitis and tooth misalignment or demographic factors may not be indicative thereof. Therefore, dental practitioners need to be aware of patients wishing to align their teeth and to provide them with the relevant information and, if appropriate, enable interdisciplinary treatment planning.

ObjectivesThe present investigation aimed to evaluate the subjective perception of deformational cranial asymmetries by different observer groups and to compare these subjective perceptions with objective parameters.Materials and methodsThe 3D datasets of ten infants with different severities of deformational plagiocephaly (DP) were presented to 203 observers, who had been subdivided into five different groups (specialists, pediatricians, medical doctors (not pediatricians), parents of infants with DP, and laypersons). The observers rated their subjective perception of the infants’ cranial asymmetries using a 4-point Likert-type scale. The ratings from the observer groups were compared with one another using a multilevel modelling linear regression analysis and were correlated with four commonly used parameters to objectively quantify the cranial asymmetries.ResultsNo significant differences were found between the ratings of the specialists and those of the parents of infants with DP, but both groups provided significantly more asymmetric ratings than did pediatricians, medical doctors, or laypersons. Moreover, the subjective perception of cranial asymmetries correlated significantly with commonly used parameters for objectively quantifying cranial asymmetries.ConclusionsOur results demonstrate that different observer groups perceive the severity of cranial asymmetries differently. Pediatricians’ more moderate perception of cranial asymmetries may reduce the likelihood of parents to seek therapeutic interventions for their infants. Moreover, we identified some objective symmetry-related parameters that correlated strongly with the observers’ subjective perceptions.Clinical relevanceKnowledge about these findings is important for clinicians when educating parents of infants with DP about the deformity.

Crowdsourcing allows collecting subjective user ratings promptly and on a large scale. This enables, for example, building subjective models for the perception of technical systems in the field of quality of experience research or researching cultural aspects of the aesthetic appeal. In addition to research in technical domains, crowdsourced subjective ratings also gain more and more relevance in medical research, like the evaluation of aesthetic surgeries. In line with this, we illustrate a novel use-case for crowdsourced subjective ratings of deformational cranial asymmetries of newborns. Deformational cranial asymmetries are deformations of a newborn’s head that might, e.g., result from resting on the same spot for a longer time.

Fraser syndrome (FS) is a rare autosomal recessive multiple congenital malformation syndrome characterized by cryptophthalmos, cutaneous syndactyly, renal agenesis, ambiguous genitalia, and laryngotracheal anomalies. It is caused by biallelic mutations of FRAS1, FREM2, and GRIP1 genes, encoding components of a protein complex that mediates embryonic epithelial-mesenchymal interactions. Anecdotal reports have described abnormal orodental findings in FS, but no study has as yet addressed the orodental findings of FS systematically. We reviewed dental radiographs of 10 unrelated patients with FS of different genetic etiologies. Dental anomalies were present in all patients with FS and included hypodontia, dental crowding, medial diastema, and retained teeth. A very consistent pattern of shortened dental roots of most permanent teeth as well as altered length/width ratio with shortened dental crowns of upper incisors was also identified. These findings suggest that the FRAS1-FREM complex mediates critical mesenchymal-epithelial interactions during dental crown and root development. The orodental findings of FS reported herein represent a previously underestimated manifestation of the disorder with significant impact on orodental health for affected individuals. Integration of dentists and orthodontists into the multidisciplinary team for management of FS is therefore recommended.

Oral health-related quality of life (OHRQoL) is a construct for assessing the self-perceived oral health of patients. The aim of this study was to investigate the correlation between OHRQoL and orthodontic treatment need in consideration of demographic and psychological factors. This multicentre study included 250 patients with an indication for orthodontic diagnostics. In cooperation with the Institute of Clinical Psychology at the University of Wurzburg, validated and internationally acknowledged questionnaires were selected to assess OHRQoL (COHIP-G19) and health-related quality of life (HRQOL). Self-esteem and behavioural problems were taken into consideration as possible psychological factors. Orthodontic treatment need was assessed using the Index of Orthodontic Treatment Need—Dental Health Component (IOTN-DHC), the Index of Orthodontic Treatment Need—Aesthetic Component (IOTN-AC) and the Dental Aesthetic Index (DAI). Possible significant correlations between the collected parameters and OHRQoL were evaluated by means of linear regression analysis. Objective orthodontic treatment need (IOTN-DHC and DAI) was significantly correlated with OHRQoL. Further factors significantly influencing OHRQoL in children and adolescents were age, HRQOL, self-esteem and behavioural problems. Objective orthodontic treatment need significantly influences OHRQoL in children and adolescents. Further studies are required to investigate if OHRQoL may be improved by correcting misaligned teeth and jaws.

Only a few studies investigating the optimal time point at which to start orthotic treatment for deformational plagiocephaly take into account the severity of skull asymmetry. The present study performs a three-dimensional analysis of the effects of age and severity of asymmetry on the final outcome.A total of 144 patients with deformational plagiocephaly treated by molding orthosis were examined and divided into three age groups (group I,24 weeks; group II, ≥24 to32 weeks; and group III, ≥32 weeks) and two severity levels (mild to moderate, 30-degree cranial vault asymmetry ≥3 mm to ≤12 mm; and moderate to severe, 30-degree cranial vault asymmetry12 mm). The extent of the reduction of asymmetry was analyzed using three-dimensional stereophotogrammetry.Therapy with molding orthosis led to a significant reduction in asymmetry in all defined age groups. Efficacy of reduction decreased with increasing age. Successful treatment (cranial vault asymmetry index3.5 percent) was achieved in 83, 69, and 40 percent of patients with mild to moderate asymmetry in groups I, II, and III, respectively; and in 50, 30, and 7 percent of patients with moderate to severe asymmetry in groups I, II, and III, respectively. The average duration of treatment increased from 18.6 weeks to 25.3 weeks (age groups I and III).Age at the beginning of treatment and severity of asymmetry have a definite impact on the duration and effectiveness of molding orthosis therapy.Risk, II.

The aim of this investigation was to create an automated cephalometric X‑ray analysis using a specialized artificial intelligence (AI) algorithm. We compared the accuracy of this analysis to the current gold standard (analyses performed by human experts) to evaluate precision and clinical application of such an approach in orthodontic routine. For training of the network, 12 experienced examiners identified 18 landmarks on a total of 1792 cephalometric X‑rays. To evaluate quality of the predictions of the AI, both AI and each examiner analyzed 12 commonly used orthodontic parameters on a basis of 50 cephalometric X‑rays that were not part of the training data for the AI. Median values of the 12 examiners for each parameter were defined as humans’ gold standard and compared to the AI’s predictions. There were almost no statistically significant differences between humans’ gold standard and the AI’s predictions. Differences between the two analyses do not seem to be clinically relevant. We created an AI algorithm able to analyze unknown cephalometric X‑rays at almost the same quality level as experienced human examiners (current gold standard). This study is one of the first to successfully enable implementation of AI into dentistry, in particular orthodontics, satisfying medical requirements.

Although prematurity is a risk factor for developing deformational plagiocephaly (DP), to our knowledge, there are no studies that have analyzed the impact of a premature birth on the duration of head orthosis therapy and the extent of the reduction in asymmetry during treatment. We examined 239 patients with DP who were undergoing head orthosis therapy. Depending on the gestational age, they were assigned to either a premature (gestational age of < 37 weeks) or a full-term (gestational age of ≥ 37 weeks) group. Head shape was analyzed using 3D-stereophotogrammetry at the start and end of treatment. We performed multiple linear regression analyses to evaluate the impact of prematurity on the duration of therapy and the extent of the reduction in asymmetry, taking age and the initial asymmetry of an infant’s head into account. Head orthosis therapy led to a significant reduction in asymmetry in both groups. Using multiple linear regression analyses, we demonstrated that age at the start of treatment, the initial asymmetry and prematurity, significantly influenced the duration of therapy. Patients who were born at an earlier gestational age experienced a shorter treatment length. However, prematurity did not affect the extent of the reduction in cranial asymmetry that was achieved. Along with age at the start of treatment and the initial asymmetry, prematurity is significantly correlated with the duration of head orthosis therapy, but not with the extent of the reduction in asymmetry achieved. Knowledge of these findings is important for clinicians when planning treatment and discussing the effectiveness of head orthosis therapy with the parents of premature infants with DP.

Background Juvenile idiopathic arthritis (JIA) is often accompanied by pathomorphological changes to the temporomandibular joint (TMJ). By analyzing orthodontical orthopantomograms of JIA patients the aims of the study were a) classification of condyle changes, b) quantification of bony asymmetries of condylar destruction and c) detection of relationships between disease duration and TMJ-involvement. Patients/Methods 46 caucasian JIA-patients (28 female; 18 male

Forensic age estimation in living adolescents is based on several methods, e.g. the assessment of skeletal and dental maturation. Combination of several methods is mandatory, since age estimates from a single method are too imprecise due to biological variability. The correlation of the errors of the methods being combined must be known to calculate the precision of combined age estimates.To examine the correlation of the errors of the hand and the third molar method and to demonstrate how to calculate the combined age estimate.Clinical routine radiographs of the hand and dental panoramic images of 383 patients (aged 7.8-19.1 years, 56% female) were assessed.Lack of correlation (r = -0.024, 95% CI = -0.124 to + 0.076, p = 0.64) allows calculating the combined age estimate as the weighted average of the estimates from hand bones and third molars. Combination improved the standard deviations of errors (hand = 0.97, teeth = 1.35 years) to 0.79 years.Uncorrelated errors of the age estimates obtained from both methods allow straightforward determination of the common estimate and its variance. This is also possible when reference data for the hand and the third molar method are established independently from each other, using different samples.

Primary failure of eruption (PFE) may be associated with pathogenic mutations in the PTHR1 gene. It has numerous manifestations and is characterized by severe posterior open bite. However, there are also phenotypically similar types of eruption anomalies not associated with a known pathogenic PTHR1 mutation. The purpose of this study was to evaluate whether a distinction can be made between PTHR1-mutation carriers and noncarriers based on clinical and radiological findings. A total of 36 patients with suspected PFE diagnoses were included and analyzed in accordance with specific clinical and radiographic criteria. In addition, all patients underwent Sanger DNA sequencing analysis of all coding sequences (and the immediate flanking intronic sequences) of the PTHR1 gene. Of these patients, 23 exhibited a heterozygous pathogenic mutation in the PTHR1 gene (PTHR1-mutation carriers), while molecular genetic analysis revealed nosequence alteration in the other 13 patients (non-PTHR1-mutation carriers). Relevant family histories were obtained from 5 patients in the carrier group; hence, this group included a total of 13 familial and 10 simplex cases. The group of noncarriers revealed no relevant family histories. All patients in the carrier group met six of the clinical and radiographic criteria explored in this study: (1) posterior teeth more often affected; (2) eruption disturbance of an anterior tooth in association with additional posterior-teeth involvement; (3) affected teeth resorbing the alveolar bone located coronal to them; (4) involvement of both deciduous and permanent teeth; (5) impaired vertical alveolar-process growth; and (6) severe subsequent finding of posterior open bite. None of the analyzed criteria were, by contrast, met by all patients in the noncarrier group. All patients in the carrier group could be assigned to one of three classifications indicating the extent of eruption disturbance, whereas 4 of the 13 noncarriers presented none of these three patterns. The clinical and radiographic criteria employed in this study would have correctly identified 10 of the 13 PFE patients in the noncarrier group as possessing no detectable PTHR1 mutation. The evaluation of clinical and radiographic characteristics can heighten the specificity of ruling out suspected PTHR1 involvement in PFE patients. A hereditary element of PTHR1-associated PFE is clearly identifiable. More studies with more patients are needed to optimize the sensitivity of this preliminary approach on the differential identification of PTHR1-mutation carriers versus noncarriers by multivariate analysis.

The goal of the following study was to quantify facial soft-tissue asymmetry in patients with pronounced skeletal malocclusion anomalies before and after orthodontic treatment combined with orthognathic surgery. In addition, the facial attractiveness of these patients was rated by dental specialists and laypersons both before and after treatment based on the three-dimensional (3D) data. An optical sensor was used to noninvasively capture the 3D facial surface data of 60 adult patients including two groups of 20 patients with skeletal Class II or III anomalies and a control group of another 20 subjects with Class I relationships. Facial surface asymmetries were evaluated immediately before the surgical procedure and 1 year thereafter. In addition, subjective ratings of facial attractiveness were obtained based on a questionnaire from orthodontists, maxillofacial surgeons, and laypersons. No differences in facial soft-tissue asymmetry were observed between the Class II and III patients either pre- or postoperatively, but asymmetry was found to be more pronounced in the skeletal malocclusion groups than in the Class I control group both pre- and postoperatively. The subjective ratings of facial attractiveness by the various rater groups yielded more favorable results for the post- than preoperative patient images, reflecting differences that reached overall statistical significance. Quantitative analysis of facial soft-tissue asymmetry and calculating a cutoff value allowed us to distinguish patients with skeletal malocclusion from a control group solely on the basis of asymmetry. Combined regimens of orthodontic treatment and orthognathic surgery go some way in reducing asymmetry toward the levels seen in untreated control subjects, while the asymmetry pattern characteristic of this type of malocclusion will persist. Nevertheless, the asymmetry reduction is noticeable enough to result in more favorable ratings of attractiveness.

Primary failure of tooth eruption (PFE) is a rare autosomal-dominant disease characterized by severe lateral open bite as a consequence of incomplete eruption of posterior teeth. Heterozygous mutations in the parathyroid hormone 1 receptor (PTH1R) gene have been shown to cause PFE likely due to protein haploinsufficiency. To further expand on the mutational spectrum of PFE-associated mutations, we report here on the sequencing results of the PTH1R gene in 70 index PFE cases.Sanger sequencing of the PTH1R coding exons and their immediate flanking intronic sequences was performed with DNA samples from 70 index PFE cases.We identified a total of 30 unique variants, of which 12 were classified as pathogenic based on their deleterious consequences on PTH1R protein while 16 changes were characterized as unclassified variants with as yet unknown effects on disease pathology. The remaining two variants represent common polymorphisms.Our data significantly increase the number of presently known unique PFE-causing PTH1R mutations and provide a series of variants with unclear pathogenicity which will require further in vitro assaying to determine their effects on protein structure and function.Management of PTH1R-associated PFE is problematic, in particular when teeth are exposed to orthodontic force. Therefore, upon clinical suspicion of PFE, molecular DNA testing is indicated to support decision making for further treatment options.

Stereophotogrammetry enables a simple and radiation free longitudinal analysis of skull asymmetries: in a three-dimensional coordinate system various distances (length, breadth, cephalic index, oblique diameters, ear shift, head circumference) can be analyzed. We also defined separate volume sections in order to further quantify the degree of asymmetry in the posterior and anterior components of both sides of the head. In 51 infants (mean age, 6 months; SD 0.97) with positional plagiocephaly, we determined these parameters at the beginning as well as at the end of molding helmet therapy (mean therapy time 4.9 months). Thirty-seven infants without positional deformity (mean age, 6.4 months; SD 0.3) served as control group and provided data about what appears to be normal and how these parameters change during growth over a comparable period of time. Compared with the control group, the plagiocephalic heads were more brachycephalic, but closely approximated the normal shape under molding therapy. The striking volume difference between the left and right posterior sections in the plagiocephalic children (the mean volume of the flattened side being 21 % smaller than the one on the contralateral side) improved as well (to a residual difference of mean 8 %) and ended up with a value close to the control group (mean 6 %). There is a broad clinical application area for stereophotogrammetry analyzing skull morphology: In plagiocephalic infants we demonstrate impressive changes of head shape under molding therapy; in normal-looking infants we describe the extent of unperceived asymmetry.

The goal of this retrospective study was to examine the effectiveness of isolated bionator therapy in Class II patients both longitudinally and over the long term. We aimed to determine whether skeletal and/or dentoalveolar reactions differ in relationship to the Angle Class (II, Division 1 vs. II, Division 2).A total of 50 juvenile patients with Class II malocclusion (♀ n = 26, ♂ n = 24) were included. A total of 24 patients presented an Angle Class II, Division 1 and 26 an Angle Class II, Division 2. We compared the patients' lateral cephalograms taken at the beginning of treatment (t1: 10.1 years), after active therapy (t2: 13.8 years), and at the end of retention (t3: 16.4 years) analyzing the following cephalometric parameters: SNA, SNB, ANB, ANB(ind), SNPog, Wits appraisal, U1-SN, U1-SpP, L1-MeGo, interincisal angle. Mean and standard deviations of each of the variables were calculated. Differences between t1-t2 and t2-t3 were tested for statistical significance. Changes in the variables were then analyzed biometrically for specific differences in terms of Angle Class (II, Division 1 vs. II, Division 2).Between t1 and t2, SNB (p = 0.000) and SNPog (p = 0.000) increased significantly, as did ANB (p = 0.000), while the difference between ANB and ANB(ind) (p = 0.000) and Wits appraisal (p = 0.000) decreased significantly. The dentoalveolar variables U1-SN, U1-SpP, and the interincisal angle changed significantly in both groups. The inclination of the upper incisors was corrected by retrusion in the Class II, Division 1 and by protrusion in the Class II, Division 2 group. Only marginal changes in all variables between t2 and t3 were observed.A significant skeletal effect (even in long-time stability) through bionator treatment could be confirmed in this study of Class II, Divisions 1 and 2 patients. The desired effect on the upper front teeth was realized, and there was no appreciable dentoalveolar compensation in the mandible.

Objective To investigate cry melody properties in infants with clefts using objective methods and to identify early differences in cry development in relation to infants without clefts that may indicate special developmental risks. Design Melody analysis was carried out on cries from the second month of life. The cry properties of infants with a cleft lip and palate (CLP) and infants with a cleft palate only (CP) were quantitatively compared. Both groups were compared to infants without clefts. Participants Twenty-one infants with nonsyndromic clefts, including 11 infants with CLP and 10 infants with CP, were compared to 50 healthy controls. Main Outcome Measures Frequency spectrograms and melody diagrams of about 7000 cries were analyzed. For each infant's crying, melodic and rhythmic properties were investigated and expressed by appropriate quantitative indices. Based on previous studies, the degree of melody complexity in an infants’ crying was used as an indicator of their present prespeech developmental status. Results The cleft groups did not significantly differ from each other with respect to their cry melody development. However, both groups were significantly different from the control group, exhibiting a lower proportion of complex cry melodies and a deviation in rhythmicity. No significant correlation to hearing performances was found that could explain the differences. Conclusions Infants with clefts differ in their cry development from infants without clefts at 2 months of life. This early difference occurs before the infants undergo any surgical intervention or other treatment.

Although there is principal agreement that increased facial asymmetry is associated with decreased facial attractiveness, there are no studies analysing face perception in patients with a unilateral cleft lip and palate (CLP) (uCLP) compared to orthognathic Class III patients. To this end, three-dimensional (3D) data on the faces of 30 adults with a complete uCLP, 20 orthognathic patients with a severe skeletal Class III, and 20 adults with a skeletal Class I as a control group were generated. The 3D asymmetry of the facial soft-tissue was analysed. These data were compared with subjective ratings for attractiveness carried out by 100 laypersons. Compared to the controls, uCLP patients and orthognathic patients had a significantly higher facial asymmetry. No difference was found between uCLP patients and orthognathic patients. The attractiveness ratings showed that uCLP patients and orthognathic patients were rated less attractive compared to the controls. However, although there were no differences in the facial asymmetry between uCLP patients and orthognathic patients, the uCLP patients were rated significantly less attractive. This leads to the conclusion that not only the extent of asymmetry has an influence on attractiveness but also the location of asymmetry. For clinical use, these findings underline the importance of accurate as possible surgical reconstruction of the nasal morphology in uCLP patients.

Objective To assess how faces with a cleft lip and palate are perceived and to study how faces with and without a unilateral cleft lip and palate are viewed by individuals with a unilateral cleft lip and/or palate in comparison to nonaffected controls. Design Prospective clinical study. Setting Department of Orthodontics and Department of Psychology, University of Wuerzburg. Participants Thirty-three participants (20 men and 13 women; mean age, 25.4 ± 6.6 years) with a unilateral cleft lip and/or palate and a control group of 30 participants (15 men and 15 women; mean age, 26.8 ± 3.4 years) were enrolled in this study. Main Outcome Measures Eye movements were analyzed via an eye-tracking camera while all participants looked at pictures of faces with and without a unilateral cleft lip and palate. Results The nose and the mouth area of pictures of faces with a unilateral cleft lip and palate were looked at significantly longer by both groups. Additionally, the participants with a unilateral cleft lip and/or palate looked at faces with and without a unilateral cleft lip and palate differently, taking more time to view the nose and less time to view the eyes compared with the participants without a cleft lip and palate. Conclusion When perceiving a face with a unilateral cleft lip and palate, the observer's gaze is distracted to the nose and mouth area. Moreover, participants with a unilateral cleft lip and/or palate themselves focused greater attention on those features that are anomalous on their own faces in comparison to participants without a cleft lip and palate. Specifically, this different scanpath is reflected in the cumulative duration of the eye movements as well as in the initial facial scan pattern.

Not all adult Class III malocclusion patients are candidates for surgical correction. In patient assessment and selection, major issues remain regarding diagnosis and treatment planning. The purpose of this investigation was to ascertain whether adding a transverse parameter to a discriminant analysis could improve the classification of adults with Class III malocclusion into 2 groups of patients: those who can effectively be treated by orthodontic therapy and those who require orthognathic surgery.Cephalograms, plaster casts, and extraoral photos of 69 adults with Class III malocclusion were analyzed. A discriminant analysis was performed to identify the variables that best separate the 2 groups.Stepwise variable selection resulted in a new, highly significant (P0.0001) model of 4 variables that provided the best discriminant function to distinguish between patients with and without indications for surgical correction. The resulting equation was the following: score = -10.988 + 0.243 * Wits + 0.055 * M/M ratio + 0.068 * NSAr - 0.589 * mand MLD. The percentage of patients correctly classified by this equation was 91.3%. The sensitivity was 0.92, and the specificity was 0.89.In the discriminant analysis, the mandibular midline deviation as a transverse component was included. The addition of the transverse variable led to an improved model concerning the predictive value in Class III malocclusion patients with surgical requirements.

ObjectiveTo present a new orthopedic method for treatment of infants with Pierre Robin sequence (PRS) and upper airway obstruction (UAO) as an alternative to other established nonsurgical and surgical techniques such as positioning, nasopharyngeal or endotracheal intubation, tongue-lip adhesion, extension, distraction, or tracheostomy.DesignReview of the literature and presentation of novel orthopedic appliances.SettingDepartment of Orthodontics, Dental Clinic, Medical Faculty of the University of Wuerzburg, Germany, Department and Clinic of Pediatrics, Medical Faculty of the University of Wuerzburg, Germany, 2005 to 2008.PatientsSeven patients with significant respiratory and feeding difficulties between 0 and 6 months of age. Both patients with nonsyndromic PRS and patients with syndromic PRS were included.InterventionsThe type of respiratory tract obstruction was defined by nasopharyngoscopy. Patients with type 1 obstruction received a plate with an epiglottic spur; whereas, patients with obstruction type 2, 3, or 4 received a plate with a pharyngeal tube.ResultsAll patients were successfully treated with orthopedic appliances alone. Under plate therapy they showed good oxygen saturation and could consequently be better nourished orally.ConclusionsThe presented novel method is a noninvasive technique in treatment of infants with UAO.

The increasing relevance of 3D methods in orthodontic diagnostics and treatment planning calls for the development of new analysis methods and the definition of three-dimensional mean values.The aim of this study was to develop a reliable three-dimensional (3D) analysis of facial soft tissues. Our objectives were to determine vertical 3D mean values and define the relationship between vertical skeletal parameters and digitally-recorded 3D soft tissue parameters.A total of 100 adult patients (female symbol = 53, male symbol = 47) of Caucasian ethnic origin were included in the study. Patients with syndromes, cleft lip and palate, noticeable asymmetry or anomalies in the number of teeth were excluded. Arithmetic means for three vertical 3D soft tissue parameters were calculated. The parameters were analyzed biometrically in terms of their reliability and gender-specific differences. Furthermore, the 3D soft tissue values were analyzed with regard to any correlations with vertical cephalometric values. In addition, we employed stepwise discriminant analysis, a multivariate statistical method, to examine the extent to which correct assessment of craniofacial morphology is possible by referring to those 3D parameters.We successfully defined reproducible 3D mean values for the 3D soft tissue parameters, demonstrating highly significant correlations between the vertical 3D soft tissue measurements and cephalometric measurements. 89.8% of the patients could be correctly assigned to a vertical or horizontal craniofacial morphology according to the 3D soft tissue values.3D soft tissue analysis provides information about vertical skeletal parameters, allowing assessment of vertical craniofacial morphology. Further investigation will be required so that 3D soft tissue diagnosis can be integrated into treatment planning and assessment as a supportive diagnostic tool in the future.

The aim of this study was to develop a reliable three-dimensional (3D) analysis of facial soft tissues. We determined the mean sagittal 3D values and relationships between sagittal skeletal parameters, and digitally recorded 3D soft tissue parameters.A total of 100 adult patients (n(female) = 53, n(male) = 47) of Caucasian ethnic origin were included in this study. Patients with syndromes, cleft lip and palate, noticeable asymmetry or anomalies in the number of teeth were excluded. Arithmetic means for seven sagittal 3D soft tissue parameters were calculated. The parameters were analyzed biometrically in terms of their reliability and gender-specific differences. The 3D soft tissue values were further analyzed for any correlations with sagittal cephalometric values.Reproducible 3D mean values were defined for 3D soft tissue parameters. We detected gender-specific differences among the parameters. Correlations between the sagittal 3D soft tissue and cephalometric measurements were statistically significant.3D soft tissue analysis provides additional information on the sagittal position of the jaw bases and on intermaxillary sagittal relations. Further studies are needed to integrate 3D soft tissue analysis in future treatment planning and assessment as a supportive diagnostic tool.

The term "primary failure of eruption" (PFE) refers to the complete or partial failure of a primary non-ankylosed tooth to erupt due to a disturbance of the eruption mechanism. Up to now, the molecular basis for this failure was unknown. Four families were studied in whom at least two members were affected by non-syndromic PFE as part of a clinical and molecular genetics study. Radiological diagnostics (OPTs) were carried out in all patients and their unaffected relatives (control group). The genetic analysis included a genomewide linkage analysis followed by direct DNA sequencing of positional candidate genes. Starting from the index patients, we were able to reconstruct pedigrees over two and/or three generations in the families that indicated an autosomal-dominant mode of inheritance of non-syndromic PFE. Fifteen patients were diagnosed with PFE. Gender distribution was nearly equal (7 female, 8 male). Molecular genetic analysis of the PTHR1 gene revealed three distinct heterozygous mutations (c.1050-3C>G; c.543+1G>A; c.463G>T). Unaffected persons exhibited no mutations. Knowledge of the genetic causes of non-syndromic PFE can now be used for the differential diagnosis of eruption failure. It permits affected family members to be identified early and may lead to new treatment possibilities in the long term. The genetically-verified diagnosis of "primary failure of eruption" can protect patients and orthodontists from years of futile treatment, because orthodontic treatment alone does not lead to success. Moreover, it has a negative influence on unaffected teeth and areas of the jaw.

Tooth eruption is a complex developmental process requiring coordinated navigation through alveolar bone and oral epithelium. Primary failure of tooth eruption (PFE) is associated with several syndromes primarily affecting skeletal development, but it is also known as a nonsyndromic autosomal-dominant condition. Teeth in the posterior quadrants of the upper and lower jaw are preferentially affected and usually result in an open bite extending from anterior to posterior. In this study, we show that familial, nonsyndromic PFE is caused by heterozygous mutations in the gene encoding the G protein-coupled receptor for parathyroid hormone and parathyroid hormone-like hormone (PTHR1). Three distinct mutations, namely c.1050-3C > G, c.543+1G > A, and c.463G > T, were identified in 15 affected individuals from four multiplex pedigrees. All mutations truncate the mature protein and therefore should lead to a functionless receptor, strongly suggesting that haplo-insufficiency of PTHR1 is the underlying cause of nonsyndromic PFE. Although complete inactivation of PTHR1 is known to underlie the autosomal-recessive Blomstrand osteochondrodysplasia (BOCD), a lethal form of short-limbed dwarfism, our data now imply that dominantly acting PTHR1 mutations that lead to haplo-insufficiency of the receptor result in a nonsyndromic phenotype affecting tooth development with high penetrance and variable expressivity.

Background: Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant disorder with an incidence of 1:200 000. Genotype and phenotype are heterogeneous and clinical morphology impresses with variable expressivity. Additionally to the typical craniofacial and dental aberrations anomalies in the morphology of sella turcica are discussed. Method: In a multidisciplinary genetic and clinical study four patients of a family with ARS were screened by direct DNA sequencing. Radiographic analysis of the patients was performed for evaluating cranial and dental structures. Additionally, a specific analysis of the morphology of the sella turcica was made on the radiographs. Results: Screening for PITX2 and FOXC1 mutations revealed a P64L missense mutation in PITX2 in all four patients. The cephalometric analysis showed a midface hypoplasia associated with a skeletal Class III. All patients showed a sella turcica bridge combined with a prominent posterior clinoid process followed by a steep clivus and an elongated sella turcica. Conclusion: The incidence of a sella turcica bridge in combination with a PITX2 mutation would suspect that sella turcica anomalies are typical symptoms of the syndrome. Sella turcica anomalies in association with craniofacial and dental aberrations, such as maxillary retrognathia, skeletal Class III relationship and hypoplasia of teeth, might be important indicators for ARS caused by PITX2 mutation.

This study is part of the German Language Development Study's prospective longitudinal research programme on infants from birth until the age of 3 years. Thirty-four infants were retrospectively classified into two groups (normal/delayed) by their language skills at 2.5 years of age. Frequency spectrograms and melodies of about 11,000 cries from the first 16 weeks of life were analysed using a CSL 4400. A Melody Complexity Index was calculated at monthly intervals. Infants with less than 45% complex melodies in their cries during the second month were found to be almost five times more likely to develop a language delay as infants with a higher proportion. For infants above the cut-off of .45, development of a language delay condition could be ruled out with a probability of 89%. Although the results need to be interpreted cautiously, the data indicate a possible relation between early melody development and later language outcome.

Objective To quantify the precision of landmark positioning on digitized casts of patients with unilateral cleft lip and palate. Patients Forty plaster models of newborns up to 8 months of age were selected from the archive of the Department of Orthodontics of the University of Heidelberg. Material and Method The plaster-cast models were digitized with a Micromeasure 70 three-dimensional laser scanner (Micromeasure, Bischoffen, Germany). The laser scanner used in this study operates with a precision of 0.15 mm on the x- and y-axes and 0.06 mm on the z-axis. In the intraobserver study, a single observer placed anatomical landmarks in four rounds, with at least 4 weeks between each round. In the interobserver study, four different observers each placed the same landmarks once. For the two different studies, an ideal location for each landmark was calculated by averaging the landmark positions of the four rounds or observers. The distance between each of the four landmark positions and the ideal landmark was measured. Results A 95% confidence interval for the landmark positioning error was calculated. For the intraobserver investigation, this error was 0.34 to 1.30 mm, and for the interobserver investigation it was 0.7 to 2.00 mm. Conclusion Because both investigations displayed comparable error intervals, it was concluded that different observers could perform landmark positioning for the same studies.

The aim of this study was to generate three-dimensional data of the physiological growth of the infant's cranium in the significant growth phase from 6 to 12 months of age. In a longitudinal observational study non-invasive 3D data using an optical surface scanner were generated of the entire head of 52 Caucasian infants (27 females and 25 males) between the ages of 6 (T1) and 12 (T2) months. The circumference of the head increased by 6.51 per cent (from 43.50 to 46.33cm). Analysis of width and length showed that the head grows 2.84 per cent more in length, resulting in a decrease in the cranial index of 2.52 per cent (from 83.87 to 81.76 per cent). The highest increment observed was in the total volume of the cranium, with an increase of 18.76 per cent (from 1229.01 to 1459.57cm(3)). Comparison of the left and right sides of the head by measuring the diagonal symmetry difference showed a difference of only 0.37cm. Overall, the symmetry-related parameters showed an almost symmetric development of the cranium in infants. The findings should provide valuable information on physiological growth and development of the infant's cranium. Therefore the high growth rate of the cranium in the first year of life suggests that this period is a critical period in which the disruption of developmental processes may have long-lasting effects on the morphology of the cranium with a prognostically unfavourable effect of the further growth of the viscerocranium.

A longitudinal casecontrol study, designed to analyse the isolated effect of attached palatal spurs in patients displaying a dentoalveolar anterior open bite, is presented.Thirty-one patients (mean age of 13.3 years +/- 3.17 years) underwent a standardised treatment protocol with fixed anterior spurs for 8.3 months. Lateral cephalograms and plaster casts were analysed before (T1) and after spur therapy (T2). The data were tested using paired t-tests with a significance level of p0.05.The cephalometric analysis showed significant elongation of the height of the maxillary (mean +1.22 mm) and the mandibular (mean +1.39 mm) alveolar processes, as well as uprighting of the lower anterior teeth. The plaster cast analysis showed an increase in maxillary intermolar width (mean +0.98 mm) and a decrease in intercanine distance (mean -0.96 mm). The mandibular anterior width and dental arch length reduced. Overall, spur therapy resulted in a significant increase in overjet and overbite.The use of spurs produced a resolution of the open bite in all patients. Therefore, spurs could be considered an effective mechanism for the management of anterior open bite in selected adolescent patients.

There are only few studies concerning the correlation between craniofacial morphology and resonance of speech in cleft palate patients. Moreover, these investigations show a considerable inhomogeneity in material and method, their basic approach was predominantly retrospective, and the statistical methods were restricted to univariate procedures. Thus, the aim of the present study was twofold: firstly to clarify the extent to which correlations exist between craniofacial morphology and resonance of speech in cleft palate patients, subject to a sufficiently large number of patients being available to ensure differentiation with regard to age and cleft type, and secondly, within a prospective longitudinal study in juvenile cleft palate patients, to investigate whether pubertal craniofacial growth changes result in changes of resonance. The collective comprised 137 cleft palate patients. The following investigations were performed: lateral cephalometry, nasometry, and standardized speech recording. Additionally, these investigations were repeated in 51 juvenile patients after a minimum time interval of 2 yars. In order to analyze the complex relations between craniofacial morphology and degree of hypernasality, multivariate statistical procedures were applied. The results of the present study indicate complex correlations between cephalometric parameters and resonance of speech, requiring age-specific differentiation. In this regard, the ratios between the length of the soft palate and the sagittal depth of the nasopharyngeal airway were of prime importance. Beyond this significant correlations were found between craniofacial growth changes and changes of resonance during puberty which might be influenced both by dentofacial orthopedics and by maxillofacial surgery.

Aim This study analyses pathomorphological and physiological head shapes and classifies the pathomorphology in positional plagiocephaly and brachycephaly. Patients and methods 78 infants with a positional plagiocephaly (5.99 months) and 32 infants with a positional brachycephaly (6.53 months) with a Cephalic index > 94% were investigated in this study and compared to a matched control group of 35 infants. The head shapes were analysed by stereophotogrammetry 3D data. Results The cephalic index, the total width, and coronal circumference were the highest values in patients with brachycephaly and the lowest values in the control group. The asymmetry of the head showed that the diagonal difference in brachycephalic patients more than doubled, and in patients with plagiocephaly almost tripled compared to the controls. A significantly higher total volume and vertex height was found for the patients with plagiocephaly and the patients with brachycephaly compared to the controls. Conclusion The cephalic index is a valuable and reliable parameter in order to differentiate positional deformities from unaffected skulls. Pathomorphology of a plagiocephaly is associated with the most severe asymmetry of the head. Plagiocephaly and brachycephaly overlap in several criteria. Therefore it seems justified to speak of a continuum rather than to differentiate between plagiocephaly and brachycephaly.

Unilateral positional plagiocephaly is the most common deformity of the head in infants. As part of a prospective controlled clinical study, the pathomorphology of the positional plagiocephaly in early infancy was examined. The goal was to use noninvasive three-dimensional (3D) imaging to generate, for the first time ever, a standard database of infants without head deformities, to quantify the asymmetry of the positional plagiocephaly, and to evaluate the effectiveness of functional growth control using head orthesis.In the present study, 3D soft-tissue data of the entire head were collected from a total of 40 infants: 20 with positional plagiocephaly (6.0 ± 0.97 months) and 20 infants without a head deformity (6.4 ± 0.3 months). Functional growth was controlled using a custom-made head orthesis. To evaluate the therapy, pre- and posttherapeutic scans were evaluated in three dimensions.Compared with the control group, infants with positional plagiocephaly demonstrated a reduced maximum length of the head, an increased head height, a shift in the ear axis as well as asymmetric anterior and posterior volumes of the neurocranium in lateral comparisons. Therapy using head orthesis led to a significant improvement of the asymmetry, with a reduction of the diagonal difference and an adjustment of the posterior volumes.Conservative growth control of extrinsically deformed infant skulls represents an interdisciplinary medical expansion of the orthodontic therapeutic spectrum. To prevent potential effects of positional plagiocephaly on the viscerocranium, head orthesis therapy is advisable in infancy.

The objective of this prospective longitudinal study was to investigate the reaction of facial soft tissues to treatment with a Herbst appliance. We aimed to quantify three-dimensionally (3D) the isolated effect of the Herbst appliance and volume changes in the lip profile. The 3D data of the facial soft tissues of 34 patients with skeletal Class II (17 female and 17 male, mean age 13.5 ± 1.8 years) were prepared in a standardized manner immediately before (T1) and after (T2) treatment with a Herbst appliance. Anthropometric evaluation was carried out in sagittal and vertical dimensions. To quantify volume changes, pretherapeutic and posttherapeutic images were superimposed three-dimensionally and the difference volumes calculated. Following testing for normal distribution, a statistical analysis was carried out using the paired t test. We observed ventral development of the soft tissues of the lower jaw with flattening of the profile curvature and anterior displacement of the sublabial region in a total of 27 patients. Anterior facial height was lengthened and the facial depth at the lower jaw increased. The largest percentage changes were noted in the lip profile, with a reduction in the red margin of the upper lip and an increase in lower lip height. We also observed a reduction of the sublabial fold in conjunction with a simultaneous increase in volume. The influence of the Herbst appliance on the facial soft tissues is expected to result in a positive treatment outcome, particularly in patients with a convex profile, a retrusive lower lip, and a marked sublabial fold. We observed a broad clinical spectrum of individual reactions in the facial soft tissues. It is, thus, not possible to detect a linear relationship between the Herbst treatment and soft tissue changes, making soft tissue changes difficult to predict

SUMMARY In orthodontic diagnosis, facial symmetry is important. The aim of the present study was to analyse the perception of various degrees of facial asymmetry exhibited by carefully designed virtual three-dimensional (3D) material. Three groups of raters (30 orthodontists, 30 maxillofacial surgeons, and 30 laymen) rated, using a sixpoint scale, the degree of asymmetry of eight randomly presented 3D faces exhibiting incremental soft tissue alterations. The faces were created by gradually transforming the nose or chin in increments of 2 mm away from the computed symmetry plane. Differences between the groups in analysis of facial asymmetry, the rating of facial stimulus, and right and left facial asymmetry were determined using a t-test. The results demonstrated that raters’ profession did not influence the point at which they identified asymmetry. Even laymen were able to detect asymmetries when located near the midline of 3D faces. All raters identified asymmetries of the nose as more negative than those of the same degree of the chin. A left-sided deviation of the nose along the facial symmetry plane lead to a more negative rating of facial appearance, whereas a right-sided deviation of the chin was rated as less attractive. Nasal architecture plays a crucial role in the perception of symmetry. These findings provide clinicians with a greater understanding of how faces are perceived, a process which is of particular interest in treating orthognathic patients, and those with congenital anomalies.

To test the hypothesis that the faces of patients with a severe Class III are contemplated differently from and assessed more negatively than skeletal Class I patients in direct face-to-face interaction.The eye movements of 24 randomly recruited evaluators were analyzed with a noninvasive, infrared high-speed camera while looking at 18 standardized frontal photographs of adult orthognathic Class III patients and 18 photographs of adults with skeletal Class I relationships as controls. Additionally, all images were assessed for appearance, symmetry, and facial expression.The Class III patients were rated significantly more negatively in terms of appearance, symmetry, and facial expression than the Class I individuals. The eye movement data revealed that orthognathic patients were appraised differently from the Class I individuals, with fewer fixations in the face center, especially around the mouth.Skeletal Class III patients were characterized as less attractive than Class I individuals. Faces of Class III patients were visually perceived with different eye movements. These differences in visual perception are described for the first time in the present study. Although they were small, they are an indication of an objectively different perception of faces that are rated subjectively as less attractive and more asymmetric and exhibiting a more negative expression.

There is evidence that persons with cleft lip and palate (CLP) suffer psychosocial consequences as a result of their facial appearance. However, no data exist on how they are perceived by others. Our hypothesis was that CLP faces were looked at differently compared with faces lacking an anomaly. Eye movements of 30 healthy participants were recorded ( via an eye-tracking camera) while they viewed photographs of faces with/without a CLP. Subsequently, the faces were rated for appearance, symmetry, and facial expression. When the CLP faces were viewed, there were significantly more initial fixations in the mouth and longer fixations in the mouth and nose regions, compared with reactions when control faces were viewed. Moreover, CLP faces were rated more negatively overall. When faces with CLP were viewed, attention was directed to the mouth and nose region. Together with the negative ratings, this may explain at least some of the social deprivations in persons with CLP, probably due to residual asymmetry.

SUMMARY Several investigations have analysed the frequency of sella turcica anomalies in patients with severe craniofacial deviations. Until now, there have been no studies concerning the prevalence of sella turcica bridging in homogenous groups of patients. Therefore, the aims of this controlled study were to analyse the prevalence of sella turcica bridging and measure the size of the sella turcica in two welldefined groups of Caucasian individuals. In a multicentre retrospective study, 400 pre-treatment lateral cephalograms of adult patients (over 17 years of age) with a skeletal Class III (n = 250, 132 females and 118 males) or a skeletal Class I (n = 150, 94 females and 56 males) malocclusion were analysed. The morphology, length, depth, and diameter of the sella turcica were investigated. For statistical analysis, chi-square and t-tests were used. Skeletal Class III patients presented a significantly higher rate of sella turcica bridging, 16.8 per cent ( P = 0.031), in comparison with skeletal Class I patients, whose rate was 9.4 per cent. No differences between females and males were detected for the length, depth, and diameter of the sella turcica. Bridging of the sella turcica could be seen radiographically in skeletal Class III subjects.

The aim of this study was to investigate the influence of facial asymmetry on how an adult population with unilateral cleft lip and palate (CLP) perceived themselves and were perceived by others. 3D facial data of 30 adult patients with cleft lip and palate (CLP) was scanned and standardized extra- and intraoral photographs were taken. The measured degree of 3D asymmetry was computed for the entire face, midface and lower face. Subjective estimates regarding facial symmetry, attractiveness as well as satisfaction and a desire or indication for further treatment were surveyed by means of a questionnaire filled out by patients and an assessment group (10 orthodontists, 10 oral and maxillofacial (OM) surgeons, 15 laypersons). The study’s results show that the largest degree of asymmetry was found in the midface of CLP patients. The vast majority of the patients were dissatisfied with their facial appearance, and patients, experts and laypersons expressed great interest in and a need of correction. We observed tangible incongruence between how the patients perceived their own faces and how others perceived them. Asymmetry, especially in the midface, appears to detract from how facial appearance is self-perceived and perceived by others, which explains the primary desire for or need of nose correction. The self-perception of patients affected by CLP does not correlate with objective results or how others perceive them. Clinicians should be open to adult patients’ requests for correction, but the patient‘s self-perception should also be critically explored.

This paper addresses the problem of classification of infants with cleft palate. A hidden Markov model (HMM)-based cry classification algorithm is presented. A parallel HMM (PHMM) for coping with age masking, based on a maximum-likelihood decision rule, is introduced. The performance of the proposed algorithm under different model parameters and different feature sets is studied using a database of cries of infants with cleft palate (CLP). The proposed algorithm yields an average of 91% correct classification rate in a subject- and age-dependent experiment. In addition, it is shown that the PHMM significantly outperforms the HMM performance in classification of cries of CLP infants of different ages.

The objective of this study was to analyze the reliability of a landmark-independent method for determining the facial symmetry plane and degree of asymmetry based on three-dimensional data from the facial surface from two sets of recordings, one performed consecutively and one performed on different days.We used an optical 3D-sensor to obtain the facial data of one male subject in two sets of ten measurements: the first taken consecutively and the second on different days. The symmetry plane and degree of asymmetry were calculated for each of the resulting twenty sets of data. One set of data was analyzed ten times for control purposes. The calculation of the mean deviation angle between the symmetry planes served as a measure of the reproducibility of these results.Although the mean angular deviations of the computed symmetry planes, 0.134 degrees (for ten consecutively captured images) and 0.177 degrees (for the ten images captured on different days), were each significantly higher than the mean angular deviation (0.028 degrees) calculated from ten analyses of a single image, they can still be regarded as very small. There were no significant differences in the degree of asymmetry among the three measurement sets. The standard deviations revealed low values.This method can be used to compute with high reliability the symmetry planes and degree of asymmetry of facial 3D-data. The color-coded visualization of asymmetrical facial regions makes it possible for this analytical procedure to capture the asymmetries of facial soft tissue with substantially greater precision than 2-dimensional en face images.