Are cervical vertebrae suitable for age estimation?

BACKGROUND: The ability of cervical vertebrae (CV) staging to contribute in forensic age estimation is being discussed controversially. The large variability of CV geometries in the end stage of development might be the reason for not reaching a performance competitive to hand or third molar methods. Here we study the geometry of adult CV and demonstrate that the description of their "typical" appearance is often not met. MATERIALS AND METHODS: Lateral cephalograms from clinical routine of 320 subjects aged 20 years or above (median 24 years, 52% female) were evaluated. The criteria for the end stage of CV development (Hassel-Farman, Baccetti) were examined by assessing them in terms of metric measurements: (1) rectangular shape of C3/C4, (2) at least one of the height-width ratios of C3/C4 > 1 (both not <1), (3) significant concavities at the inferior margin of C2, C3 and C4. Metric data of the adults were also compared to those of 100 children aged 8-10 years (50% female). RESULTS: Adult CV often violated the criteria of rectangular shape (44% C3, 36% C4), of height-width ratio (16% C3, 35% C4) and inferior concavity (10% C2, 10% C3, 19% C4). All of the criteria for adult CV were fulfilled in only 24% of the subjects (95%CI 19-28%). The variability of measures of the CV shapes was large; e.g., the 95% reference ranges for the height-width ratios were 0.81-1.19 (C3) and 0.77-1.14 (C4). There was a material overlap of ranges of CV measures of adults and children. CONCLUSION: While hand bones and teeth have well-defined appearances in the end stage of development, adult CV have a large biological variance of shapes; it is hard to define their "typical" appearance. Moreover, measures of CV geometry do not strictly separate adults from children. These facts might reason the limited usefulness of CV in age estimation.

Three-dimensional analysis of cranial growth from 6 to 12 months of age.

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.

Differential diagnosis of primary failure of eruption (PFE) with and without evidence of pathogenic mutations in the PTHR1 gene.

BACKGROUND: 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. PATIENTS AND METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Three-dimensional investigation of facial surface asymmetries in skeletal malocclusion patients before and after orthodontic treatment combined with orthognathic surgery.

OBJECTIVES: 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. PATIENTS AND METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Effectiveness of bionator therapy for Class II malocclusions: a comparative long-term study.

OBJECTIVE: 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). PATIENTS AND METHODS: 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). RESULTS: 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. CONCLUSION: 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.

Head orthesis therapy in infants with unilateral positional plagiocephaly: an interdisciplinary approach to broadening the range of orthodontic treatment.

OBJECTIVE: 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. PATIENTS AND METHODS: 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. RESULTS: 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. CONCLUSION: 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.

[Interaction between otorhinolaryngology and orthodontics: correlation between the nasopharyngeal airway and the craniofacial complex]. / Interaktion von Hals-Nasen-Ohren-Heilkunde und Kieferorthopädie: Die Beziehung zwischen dem nasopharyngealen Luftraum und den kraniofazialen Strukturen.

In terms of pathophysiology, an anatomically narrow airway is a predisposing factor for obstruction of the upper respiratory tract. The correlation between the nasopharyngeal airway and the craniofacial structures is discussed in this context. Thus a mutual interaction between the pharynx and the mandibular position was demonstrated, whereby the transverse dimension of the nasopharynx was significantly larger in patients with prognathism than in patients with retrognathism. The influence of chronic obstruction of the nasal airway on craniofacial development was also discussed. The form-and-function interaction, which ought to explain the causal relationship between nasal obstruction and craniofacial growth, appears to be of a multifactorial rather than a one-dimensional, linear nature. It is not disputed, however, that expanding the maxilla improves not only nasal volume and nasal flow, but also the subjective sensation of patients, although it is not possible to make a prognostic statement about the extent of this improvement because of the differing reactions of individuals. Orthodontic appliances for advancing the mandible can also be successfully used in the treatment of mild obstructive sleep apnea syndrome. This treatment method should be considered particularly for patients who are unwilling to undergo or cannot tolerate CPAP treatment.

Persons with cleft lip and palate are looked at differently.

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.

Morphology of the sella turcica in Axenfeld-Rieger syndrome with PITX2 mutation.

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.

The influence of cephalometric parameters on resonance of speech in cleft lip and palate patients. An interdisciplinary study.

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 years. 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.