Liselotte Sonnesen

Cervical column morphology in adult patients with obstructive sleep apnoea

Cervical column morphology was examined in adult patients with obstructive sleep apnoea (OSA) and compared with the cervical morphology of an adult control group with neutral occlusion, normal craniofacial morphology, and no history of sleep apnoea. The sleep apnoea group consisted of 91 patients, 16 females aged 29-59 years (mean 49.4 years) and 75 males aged 27-65 years (mean 49.0 years). All patients were diagnosed with OSA by overnight polysomnography. The control group consisted of 21 subjects, 15 females aged 23-40 years (mean 29.2 years) and 6 males aged 25-44 years (mean 32.8 years). From each individual, a visual assessment of the cervical column was performed on the radiograph. Differences in the cervical column morphology, between the genders and the groups were assessed by Fishers exact test and the effect of age by logistic regression analysis. In the OSA group, 46.2 per cent had fusion anomalies of the cervical column and 5.5 per cent a posterior arch deficiency. Fusion anomalies occurred in 26.4 per cent as fusions between two cervical vertebrae. Block fusions occurred in 12.1 per cent and occipitalization in 14.3 per cent. A posterior arch deficiency occurred in 2.2 per cent as a partial cleft of C1 and in 3.3 per cent as dehiscence of C3 and C4. No statistical gender differences were found in the occurrence of morphological characteristics of the cervical column. The fusion anomalies of the cervical column occurred significantly more often in the OSA group. The results indicate that the morphological deviations of the upper cervical vertebrae play a role in the phenotypical subdivision and diagnosis of OSA.

Associations between craniofacial morphology, head posture, and cervical vertebral body fusions in men with sleep apnea.

INTRODUCTION The aim of this study was to analyze craniofacial profiles and head posture in patients with obstructive sleep apnea (OSA) subgrouped according to cervical column morphology. METHODS Seventy-four white men aged 27 to 65 years (mean, 49.0 years) diagnosed with OSA in sleep studies by using overnight polysomnography were included. Only patients with apnea-hypopnea index scores between 5.1 and 92.7 (mean, 36.4) were included. Lateral profile radiographs in standardized head posture were taken, and cephalometric analyses of sagittal and vertical jaw relationships were made. The patients were divided into 4 groups according to fusion in the cervical vertebrae: group I, no fusions (42 subjects); group II, fusion of cervical vertebrae 2 and 3 (15 subjects); group III, occipitalization (10 subjects); and group IV, block fusion (11 subjects). Mean differences of craniofacial dimensions between the groups were assessed by unpaired t tests. RESULTS No significant differences were seen between groups I and III. Between groups I and II, significant differences were seen in jaw relationship (P < 0.05). Between groups I and IV, anterior face height and mandibular length deviated significantly. No significant differences were seen in head posture. CONCLUSIONS OSA patients with block fusions in the cervical vertebrae and fusion of 2 vertebrae differed significantly in craniofacial profile from other OSA patients.

The neurocranial and craniofacial morphology in children with solitary median maxillary central incisor (SMMCI).

OBJECTIVES The purpose of this study was to describe the neurocranial and craniofacial morphology on profile radiographs of children with single median maxillary central incisor (SMMCI). DESIGN Cephalometric analyses of neurocranium and craniofacial morphology on profile radiographs. SETTING AND SAMPLE POPULATION Department of Orthodontics, School of Dentistry, University of Copenhagen. Thirteen children with SMMCI, 12 girls and one boy (7-17 years of age). OUTCOME MEASURE Cephalometric measurement were compared with normal standards using a paired t-test and Wilcoxon signed rank test. RESULTS The size of the neurocranium (especially the length of the anterior cranial base), the maxillary prognathia, the maxillary inclination, the mandibular prognathia and the inclination of the mandibular incisors are significantly reduced in SMMCI. The mandibular inclination, the vertical jaw relationship, the alveolar bone prognathia in the upper jaw and the mandibular angle are significantly enlarged in SMMCI. CONCLUSION The present study showed that occurrence of SMMCI is a sign of a developmental anomaly associated with deviations in neurocranial size and shape and in craniofacial morphology.

Association between the development of the body axis and the craniofacial skeleton studied by immunohistochemical analyses using collagen II, Pax9, Pax1, and Noggin antibodies.

Study Design. Immunohistochemical analyses on the axial skeleton from wild type mice. Objective. In the clinic, we have previously observed cervical spine defects associated with deviations in the posterior part of the occipital bone and with morphologic and functional variations in the craniofacial skeleton. As examples, cervical spine fusions occurred frequently in patients with mandibular overjet and even more frequently and more caudally in the cervical spine in patients with sleep apnoea. The aims of the present study were to elucidate this association between the spine and the cranium by comparing gene expression domains of important developmental genes known to be involved in vertebral column formation with gene expression in the craniofacial region. Summary of Background Data. This is the first study looking specifically on gene expression in the basilar part of the occipital bone that is formed around the cranial part of the notochord, thus connecting the spine and the craniofacial skeleton. Methods. The material consisted of 4 mouse embryos p.c. day 13.5, NMRI wild-type mice, from the same litter. The body axis, the cranial base, and the craniofacial area were studied by immunohistochemical analyses using Collagen II, Pax9, Pax1, and Noggin antibodies. Results. Pax1 expression was highly similar in the posterior part of the occipital bone and in the vertebral column, indicating that the basilar part of the occipital bone from a developmental standpoint can be considered the uppermost vertebra. Pax9 and Noggin expression domains were in accordance with those described previously. Conclusion. The present study supports that the basilar part of the occipital bone may be regulated by similar developmental mechanisms as the vertebral column and may thus be regarded the uppermost vertebra. Thus, the clinically observed association between the cervical column and the craniofacial area has been proved by immunohistochemical methods.

Bony deviations revealed by cone beam computed tomography of the temporomandibular joint in subjects without ongoing pain.

AIMS To assess the prevalence of temporomandibular joint (TMJ) bony changes in cone beam computed tomography (CBCT) images of adult subjects without ongoing orofacial pain or complaints from the TMJ. METHODS The study included 84 TMJs from 28 men and 14 women (mean age [± SD]: 51 ± 11 years) without orofacial pain or TMJ complaints who were participants in a study of patients with obstructive sleep apnea. They were examined before any treatment with the Research Diagnostic Criteria for Temporomandibular Disorders and with CBCT (NewTom VGi; 15 × 15 cm, exposure time 18 seconds, axial thickness 0.3 mm). Osseous TMJ deviations were assessed blindly and classified. RESULTS Degenerative changes were noted in the CBCT images of 33 (39.3%) of the TMJs, of which 21 were classified as osteoarthritic alterations and 12 as indeterminate changes of osteoarthritis. Two TMJs were clinically classified as osteoarthrosis and 6 as disc displacement with reduction. The CBCT images of the 2 TMJs with a clinical diagnosis of osteoarthrosis showed also bony changes, but the CBCT images also revealed osteoarthritic bony changes in the 18 TMJs without any clinical diagnosis. CONCLUSION CBCT images of asymptomatic adult TMJs commonly show degenerative bony alterations. Accordingly, such radiographic findings should be used with care and only as a supplement to clinical assessment.

Craniofacial Morphology in Patients With Hypophosphatemic Rickets: A Cephalometric Study Focusing on Differences Between Bone of Cartilaginous and Intramembranous Origin

Hypophosphatemic rickets (HR) are diseases characterized by deficient mineralization of bone due to abnormal renal wasting of phosphate. Deformation of bony structures of cartilaginous origin has been described as a major characteristic in patients with HR, but little is known about the impact on bony structures of intramembranous origin. The aim of the present study was to describe the osseous morphology of the craniofacial structures in patients with HR compared to healthy controls, and to investigate the impact of different bone origin on the osseous morphology. Fifty‐three patients with HR (17 males, 36 females), aged 3–74 yrs, were included. Fifty HR patients had dominant X‐linked disease, and in three patients no mutations were identified. A total of 79 healthy individuals (37 males, 42 females), aged 6–79 yrs, with normal occlusion served as controls. Significant cephalometric differences were found between HR patients and controls. In HR patients, the cranial base was flattened and the depth of the posterior cranial fossa was decreased. The anterior height of the cranium, the angle nasion‐sella‐frontale, and the thickness of theca were increased. The length of the nasal bone and the height of the maxilla were reduced. In contrast, the vertical as well as the sagittal relation between the jaws were unaffected in HR patients compared to controls. In conclusion, we found that the cranial structures of cartilaginous origin as well as the structures of intramembraneous origin were affected in patients with HR.

How does occipitalization influence the dimensions of the cranium

OBJECTIVES To describe occipitalization on human dry skulls and to compare craniofacial morphology including the posterior cranial fossa in skulls with occipitalization and in skulls without occipitalization and with normal craniofacial morphology (controls). SETTING AND SAMPLE POPULATION A total of 29 skulls were selected from the Björk collection. Nine had occipitalization of atlas. Twenty had no dentoalveolar or craniofacial anomalies, and no occipitalization was visible on the skulls (controls). The ages of the skulls were between adolescence and adulthood. METHODS Visual assessments to describe the occipitalization pattern, direct measurements to measure the foramen magnum dimensions and cephalometric radiographic analyses to describe the craniofacial morphology. New variables were determined to describe the posterior cranial fossa. RESULTS Of the skulls with occipitalization, 67% had complete and 33% had partial occipitalization. In the posterior part of the neural arch, 44% had a cleft. Occipitalization was significantly associated with a small foramen magnum (p < 0.01; p < 0.001) and deviant shape of the posterior cranial fossa (p < 0.05). The craniofacial morphology in the vertical and sagittal dimensions including the cranial base angle was normal in skulls with occipitalization, which indicates that occipitalization is associated with deviant morphology of the surrounding bony structures but not with deviations in the craniofacial morphology in general. The results of this study are important for the diagnosis of occipitalization on 2D radiographs.

Upper spine morphology in hypophosphatemic rickets and healthy controls: a radiographic study

BACKGROUND/OBJECTIVES The aim of this study was to describe upper spine morphology in adult patients with hypophosphatemic rickets (HR) compared with controls to assess differences in spine morphology in terms of severity of skeletal impact and to study associations between spine morphology and craniofacial morphology. MATERIAL/METHODS The study population comprised 36 HR patients and 49 controls. The atlas and axis dimensions were measured on cephalograms, and the differences between the groups were estimated by regression analysis. The upper spine morphology was visually assessed to estimate the prevalence of cervical vertebral anomalies. RESULTS The dimensions of the atlas and the axis were larger in HR patients than in controls (P ≤ 0.001), and fusions (FUS) occurred more often in HR patients (39%) than in controls (6%; P ≤ 0.001). In HR patients, the length of the atlas correlated positively (P = 0.008) and the height of the dens correlated negatively (P = 0.043) with the severity of skeletal impact. The height of the posterior arch of the atlas and the length of the axis correlated negatively with the cranial base angle (P ≤ 0.017), and the vertical dimensions of the atlas correlated positively with the thickness of the occipital skull (P ≤ 0.015). The length of the atlas correlated positively with mandibular prognathism (P = 0.042). FUS correlated positively with the frontal and parietal thickness (P = 0.034 and P = 0.003, respectively). CONCLUSIONS The dimension of the atlas and the axis and the prevalence of the FUS were increased in HR patients compared with controls. Upper spine dimensions were associated with craniofacial dimensions, primarily in relation to the posterior cranial fossa.

Cervical vertebrae, cranial base, and mandibular retrognathia in human triploid fetuses†

On profile radiographs of adults, an association between fusions of cervical vertebrae, deviations in the cranial base and mandibular retrognathia has been documented radiographically. An elaboration of this association on a histological level is needed. In human triploid fetuses severe mandibular retrognathia and deviations in the cranial base have previously been described radiographically (without cephalometry) and cervical column fusions radiographically as well as histologically. Therefore, triploid fetuses were chosen to elucidate the cranial base cephalomterically and histologically. In the present study, eight triploid fetuses were analyzed radiographically and histologically focusing especially on the cranial base, which borders to the spine and to which the jaws are attached. A histological analysis of the cranial base has not previously been performed in triploid cases. An enlarged cranial base angle and a retrognathic position of the mandible were documented cephalometrically on radiographs of all cases. Histologically, malformations were observed in the cranial base as well as in the spine. These are new findings indicating the association between the occipital bone and the uppermost vertebra in the body axis. As the notochord connects the cervical column and the cranial base in early prenatal life, molecular signaling from the notochord may in future studies support the notochord as the developmental link between abnormal development in the spine and the cranial base.

Cervical Column Morphology and Craniofacial Profiles in Monozygotic Twins

Previous studies have described the relationships between cervical column morphology and craniofacial morphology. The aims of the present study were to describe cervical column morphology in 38 pairs of adult monozygotic (MZ) twins, and compare craniofacial morphology in twins with fusions with craniofacial morphology in twins without fusion. Visual assessment of cervical column morphology and cephalometric measurements of craniofacial morphology were performed on profile radiographs. In the cervical column, fusion between corpora of the second and third vertebrae was registered as fusion. In the twin group, 8 twin pairs had fusion of the cervical column in both individuals within the pair (sub-group A), 25 pairs had no fusions (subgroup B), and in 5 pairs, cervical column morphology was different within the pair (subgroup C), as one twin had fusion and the other did not. Comparison of craniofacial profiles showed a tendency to increased jaw retrognathia, larger cranial base angle, and larger mandibular inclination in subgroup A than in subgroup B. The same tendency was observed within subgroup C between the individual twins with fusion compared with those without fusion. These results confirm that cervical fusions and craniofacial morphology may be interrelated in twins when analysed on profile radiographs. The study also documents that differences in cervical column morphology can occur in individuals within a pair of MZ twins. It illustrates that differences in craniofacial morphology between individuals within a pair of MZ twins can be associated with cervical fusion.