Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?

The generic term median facial dysplasia (MFD) describes a subgroup of patients with cleft lip and palate exhibiting characteristic craniofacial defects: (1) short prolabium, (2) absence of frenulum labii, (3) hypoplasia of premaxilla, (4) absent upper central and lateral incisors of the cleft side, and (5) deficient septal cartilage and nasal spine. Gross brain malformations are usually absent in MFD. The same craniofacial malformations are also described in patients with holoprosencephaly sequence (HPE-S). We report on two male patients with bilateral cleft lip and palate showing the facial findings of MFD or HPE-S. Additional congenital malformations were anal atresia in one patient and severe cardiac defect in the other. In both, HPE was excluded by brain imaging, although uncommon brain anomalies were detected consisting of multiple white-matter lesions in the one patient and unusual enlargement and tortuosity of intracerebral blood vessels in both patients. In addition to facial anomalies, the patients also had psychiatric problems typically seen in velo-cardio-facial syndrome (VCFS). Fluorescence in situ hybridization (FISH) analysis confirmed a 22q11.2 microdeletion in both.

The Class II Division 2 craniofacial type is associated with numerous congenital tooth anomalies.

The aim of the present study was to examine whether a putative relationship exists between the Class II division 2 craniofacial type and congenital anomalies of the dentition, such as missing teeth, peg-shaped laterals, transpositions, supernumerary teeth and canine impactions. Two hundred and sixty-seven untreated patients with Class II division 2 malocclusion were examined. The results show that 56.6 per cent of the patients exhibited some form of congenital tooth anomaly, 13.9 per cent agenesis of the upper lateral incisors, 7.5 per cent peg-shaped upper laterals, while impacted canines were present in 33.5 per cent of the subjects. Transpositions were present in 1.1 per cent of the patients and in all cases the canine was involved. No patient exhibited a supernumerary tooth. Comparing the results of the present study with existing data on the percentage of congenital tooth anomalies in the general population, it can be concluded that Class II division 2 malocclusions are closely associated with congenital tooth anomalies.

Elastic activator for treatment of open bite.

This article presents a modified activator for treatment of open bite cases. The intermaxillary acrylic of the lateral occlusal zones is replaced by elastic rubber tubes. By stimulating orthopaedic gymnastics (chewing gum effect), the elastic activator intrudes upper and lower posterior teeth. A noticeable counterclockwise rotation of the mandible was accomplished by a decrease of the gonial angle. Besides the simple fabrication of the device and uncomplicated replacement of the elastic rubber tubes, treatment can be started even in mixed dentition when affixing plates may be difficult.

Factors influencing changes in maxillary arch dimensions in unilateral cleft lip and palate patients until six months of age.

OBJECTIVE: The objectives of the present study were (1) to investigate whether growth increments until 6 months of age are influenced by particular factors, (2) to analyze whether anterior cleft reduction is dependent on the extent of the cleft width at birth, and (3) to examine the correlation between maxillary measurements at birth and the anterior cleft width at 6 months of age. DESIGN: The study design was prospective and longitudinal. SETTING: Heidelberg University Hospital Interdisciplinary Cleft/Craniofacial Center. PATIENTS AND METHOD: The longitudinal records of 34 patients (24 male and 10 female) with complete unilateral cleft lip, alveolar ridge, and hard and soft palate were included in this study. All patients were treated with the same protocol. All participants were assessed at 0 and 6 months of age. Maxillary plaster casts of the patients were analyzed using a computer-controlled three-dimensional digitizing system. MAIN OUTCOME MEASURE: Maxillary models were measured and compared to putative factors influencing growth. RESULTS: No statistically significant differences were found between maxillary growth changes and increases in weight and length. Similarly, there was no significant interaction between the extent of the alveolar cleft width at birth and its reduction prior to lip closure. In contrast, significant differences of maxillary growth increments could be found between male and female patients. Stepwise regression analysis demonstrated a correlation between maxillary measurements at birth and growth increments. CONCLUSION: The results of the study indicate that gender plays a certain role in growth changes within the first 6 months of age.

Evaluation of the predictive impact of cephalometric variables. Logistic regression and ROC curves.

In the context of orthodontic treatment planning, the decisions to be made are often affected by the assumption of future growth patterns, especially the direction of mandibular rotation. Using longitudinally available lateral cephalograms from the Belfast Growth Study, it was examined whether, on the basis of the cephalometric variables at the ages of 7, 9 and 11, the direction of mandibular rotation can be predicted in the respective subsequent 4-year intervals. For statistical analysis of this problem, logistic regression models were applied to describe and quantify the influence of potential explanatory variables on the direction of mandibular rotation (dependent variable). In addition, graphical methods taken from the field of medical diagnostics were applied for prediction and for determination of predictive accuracy. The use of logistic regression models revealed no relations between the explanatory variables SN-MeGo and S-Go/N-Me and the subsequent mandibular growth pattern. Only the upper and lower parts of the gonial angle showed a minor predictive impact. A graphical evaluation of their prognostic impact by means of "receiver operating characteristics" (ROC) curves, complemented by determination of the areas under the curves, confirmed the relations discovered. Nevertheless the prognostic limits of the lateral cephalogram emerged clearly for all variables investigated.

Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients.

Oculo-facio-cardio-dental syndrome is a very rare condition. So far, only nine cases have been documented. We report on three additional female patients representing the same entity. The clinical findings were: congenital cataract, microphthalmia/microcornea, secondary glaucoma, vision impairment, ptosis, long narrow face, high nasal bridge, broad nasal tip with separated cartilages, long philtrum, cleft palate, atrial septal defect, ventricular septal defect, and skeletal anomalies. The following dental abnormalities were found: radiculomegaly, delayed dentition, oligodontia, root dilacerations (extension), and malocclusion. For the first time, fusion of teeth and hyperdontia of permanent upper teeth were seen. In addition, structural and morphological dental changes were noted. These findings expand the clinical spectrum of the syndrome.

Extraction therapy in patients with Class II/2 malocclusion.

The aim of this study was to analyze the dynamic development of Class II, Division 2 malocclusion with reference to the untreated patients from the Belfast Growth Study. As a second step, the influences of premolar extraction in all 4 quadrants and of maxillary second molar extraction in the upper jaw in Class II/2 patients were examined, focusing on the cephalometric variables in comparison to those of the untreated patients from the Belfast study. The longitudinal cephalometric values of 20 patients in each group were compared. In addition, the possibility of third molar eruption was evaluated in the extraction patients from the panoramic radiographs. The overbite based on study models at the beginning and end of treatment was calculated. Furthermore, renewed spacing after premolar extraction was assessed. The results derived from cephalometric analysis demonstrated that profile flattening was also observed in untreated Class II/2 patients during the growth period. Comparison of these data with those obtained from the extraction groups revealed a significantly marked recession of the upper lip after premolar extraction. In contrast, only slightly increased flattening after maxillary second molar extraction was observed compared with the untreated patients of the control group. Whereas the interincisal angle was reduced to a value approximating that of untreated Class I patients after maxillary second molar extraction, only a small decrease was recorded after premolar extraction. From our point of view, the claim that premolar extraction facilitates third molar eruption should be seen in an extremely critical light and should not contribute to the decision in favor of extraction. In addition, there is a problem of renewed spacing in the extraction area after premolar extraction.

Non-surgical treatment of upper airway obstruction in oculoauriculovertebral dysplasia: a case report.

A non-surgical technique for the treatment of upper airway obstruction in oculoauriculovertebral dysplasia using an intra-oral orthopaedic appliance is described, which resulted in respiratory and feeding problems being solved without side-effects. This non-invasive management might also be of major benefit in the treatment of airway obstruction associated with Pierre Robin sequence, mandibular micrognathia in other craniofacial anomalies, or obstructive sleep apnoea.

Functional treatment of condylar fractures in adult patients.

Functional treatment of condylar fractures in adult patients usually follows the closed reduction/maxillomandibular fixation approach. Some of the problems arising when functional appliances (i.e., activator) are used have been identified and presented here, especially in patients where fractured parts are dispositioned/dislocated. The cause is discussed and a different functional approach is proposed that yields good results.

The importance of the maxillary sinuses in facial development: a case report.

A case of mandibular asymmetry is presented. It appears that in this patient the mandible was adapted to changes in the maxillary sinus area. Abnormal bone growth of unknown aetiology inside the sinus most likely caused complete remodelling in the maxillary sinuses and asymmetry of the mandible. Special tests used for detailed assessment of the patient supported the definitive diagnosis.

A neural network approach to the analysis and classification of human craniofacial growth.

Planning of treatment in the field of orthodontics and maxillo-facial surgery is largely dependent on the individual growth of a patient. In the present work, the growth of 43 orthodontically untreated children was analysed by means of lateral cephalograms taken at the ages of 7 and 15. For the description of craniofacial skeletal changes, the concept of tensor analysis and related methods have been applied. Thus the geometric and analytical shortcomings of conventional cephalometric methods have been avoided. Through the use of an artificial neural network, namely self-organizing neural maps, the resultant growth data were classified and the relationships of the various growth patterns were monitored. As a result of self-organization, the 43 children were topologically ordered on the emerging map according to their craniofacial size and shape changes during growth. As a new patient can be allocated on the map, this type of network provides a frame of reference for classifying and analysing previously unknown cases with respect to their growth pattern. If landmarks are used for the determination of growth, the morphometric methods applied as well as the subsequent visualization of the growth data by means of neural networks can be employed for the analysis and classification of growth-related skeletal changes in general.

Early maxillary orthopedics in a child with an oblique facial cleft.

OBJECTIVE: Oblique facial clefts are extremely rare. In view of their variability, surgical treatment cannot be standardized. To date, early maxillary orthopedics in the treatment of oblique facial clefts have not been reported. The case described here presents a newborn child with a Tessier 3 cleft. Because of the enormous width of the alveolar cleft, a narrowing of the segments was regarded as prerequisite for definitive lip closure. To bring the segments together, an actively working plate with a forward pull was designed. CONCLUSION: After a period of 4 weeks, proper alignment and proximity of the segments were achieved, so that definitive lip closure and plastic reconstruction of the remaining soft tissue defect could be easier performed.

Dentofacial changes in patients with Class III malocclusions treated by a combination of activator and chin-cup appliances.

The purpose of this study was to examine, on pre-treatment and post-treatment lateral cephalograms, the effects of combined activator/chin-cup therapy on Class III patients, and to compare mean cephalometric differences noted during treatment with untreated Class I subjects. Fourteen females and fifteen males who exhibited a Class III malocclusion were the subjects of the study. Direct comparison of the mean value changes of the cephalometric variables during treatment of Class III patients with untreated Class I subjects revealed that SNA increased more and SNB increased less in the Class III patients than in the control group, thus improving the ANB angle. At the end of treatment, all patients had a positive overjet but a more concave profile. In this study, combined activator/chin-cup therapy seemed to induce improvement in those Class III patients selected for their moderate condition and treated over a five-year period. The changes seemed to indicate growth patterns which imitate those of the untreated Class I subjects. Moreover, dentoalveolar compensations helped to improve the overjet and conceal skeletal deviations.

Mesiodentes: incidence, morphology, etiology.

There are many publications in the literature focusing on clinical, radiological and surgical aspects of the treatment of mesiodentes. However, the etiology of this dental anomaly remains widely unclear. The purpose of this study was to evaluate etiologic factors for mesiodentes in a collective comprising 30 patients with a total of 45 mesiodentes. Thirty-one percent of the patients showed a familial disposition, pointing to inheritance as a key factor in the development of mesiodentes. Our results further support the hypothesis of related etiologic factors for several dental and craniofacial anomalies, such as hyperdontia, hypodontia and cleft lip and palate. Finally, we report the gemination of a deciduous incisor on the same side as a mesiodens. We also found differences in the mesiodistal width of central incisors depending on unilateral or bilateral occurrence of mesiodentes. Both these findings support the dichotomy theory of the split in the tooth bud inducing the development of mesiodentes, a theory we favor over that of local hyperactivity of the dental lamina.

Skeletal and dentoalveolar changes after extraction of the second molars in the upper jaw.

The aim of this study was to evaluate treatment results after extraction of maxillary second molars. Since this therapy was chosen in patients with class II malocclusion, deep overbite and counterclockwise growth pattern, its effects on overbite and correction of the malocclusion were examined. For this purpose pre- and post-treatment models of 25 patients with 48 extracted upper second molars were measured and lateral cephalograms were appropriately superimposed in order to determine maxillary and mandibular skeletal and dentoalveolar changes. Our results indicate an average overbite reduction from 4.7 mm to 2.7 mm. None of the patients showed a posttreatment overbite increase. Despite the considerable initial Class II relation in many cases, a Class I occlusion was achieved in 92% of the patients. Primarily, the correction was achieved by distalization of the upper first molars. Furthermore, the mesial migration of the lower first molars, skeletal changes in the lower jaw, and the growth inhibition in the upper jaw contributed to the correction of the class II malocclusion.

Extraction of maxillary second molars in the treatment of Class II malocclusion.

The results of treatment following the extraction of maxillary second molars for Class II correction were evaluated. Records (cephalograms, orthopantomograms, and models) of 32 patients treated with maxillary second molar extraction were analyzed. Cephalograms taken before and after treatment were traced and 18 variables were compared. Changes in the axial inclination of the erupted third molars relative to the occlusal plane were measured on the orthopantomograms. The form and the position (eruption in occlusion, rotations) of the maxillary third molars were evaluated on the models. The average treatment time was 26 months. The results of this study show significant changes of the angles SNA, SNB, ANB, 1/4:SN, and the distances 1-NPog, and 1-APog, as well as significant effects on the soft tissue profile. In 19 cases examined 4 years postretention, all maxillary third molars had erupted into occlusion with a mesial contact point and acceptable mesiodistal axial inclination.

[Hypodontia: considerations on orthodontic therapy in agenesis of the permanent upper lateral incisor]. / Ipodontia: considerazioni sulla terapia ortodontica nell'agenesia dell'incisivo laterale superiore permanente.

The authors have investigated different clinical cases having in common the agenesis of the permanent upper lateral incisors, to evaluate from a clinical and esthetic point of view the possibilities, results and the limits of the orthodontic treatment. These are nowadays increasingly associated with esthetic dentistry, prosthodontics, implantology and finally with dental transplantation. The patients presented the absence of one or both permanent upper lateral incisors or the agenesis of other teeth, sometimes associated with dental crowding or a not favourable intermaxillary relation. Most of the cases were treated with compensatory extraction of the other normal or hypoplastic permanent upper lateral incisor. The results were satisfactory but the mean treatment time was relatively long (56 months, including the retention phase), according to the difficulty of obtaining a good esthetic result in the smile line. The importance of a correct point of time of the interception for the choice of the most adequate therapy is emphasized. The possibility of correcting occlusal relation by means of the orthopedic treatment of the maxillary structures is limited to the end of the deciduous dentition. The diagnostic criteria for a correct and opportune interception of this anomaly are being stressed on. Finally the esthetic problems arising of the orthodontic space closure and the possible solutions were discussed.

[The nasometer. An instrument for the objective study of hyperrhinophonia in cheilognathopalatoschisis patients]. / Das Nasometer. Ein Instrument zur Objektivierung der Hyperrhinophonie bei LKG-Patienten.

The aim of this study was to evaluate the reliability and validity of the nasometer in diagnosing hypernasality in cleft palate patients. For this purpose the results of the nasometric examination of 30 patients with hypernasality were compared with the results obtained by using the currently taught methods. Sensitivity and specificity of nasometry were high with coefficients, respectively, of 0.80 and 1.00. Overall accuracy reached 0.90. Our results, which correspond almost exactly to those obtained in similar Anglo-American studies, demonstrate that also in German-speaking countries the nasometer can be a reliable instrument for diagnosing hypernasality. Moreover, the nasometer presents the possibility of calculating the extent of hypernasality during routine examination and diagnosis.

[Hyperrhinophonia and craniofacial structure. A cephalometric analysis]. / Hyperrhinophonie und Gesichtsschädelaufbau. Kephalometrische Analyse.

The aim of this study was to examine the relationship between the cephalometric measurements and the nasalance scores. Therefore the lateral cephalograms of 44 cleft palate patients were analysed and compared with the nasometric findings. The results revealed significant differences for the maxilla: the SNA angle and the inclination of the palatal plane were significantly related to the occurrence of hypernasality. Furthermore, the length of the soft palate and the ratio Spp-Ad3/Spp-V were found to be essential for the resonance of speech.