Evaluation of facial soft-tissue values and craniofacial morphology in obese adolescent patients with different skeletal classes

Objectives: The purpose of this study was to evaluate the facial soft tissue and craniofacial morphological structures in adolescent obese individuals with different skeletal patterns. Materials and Methods: The study was carried out on 292 adolescents examined under three groups based on their body mass indexes (BMIs) as obese, healthy, and overweight. The subjects were also categorized based on skeletal classes as Class I, Class II, and Class III. Results: The glabella, nasion, labiale inferius, labiomentale, and pogonion values of the female patients were significantly higher in obese group. In the obese and overweight groups, effective midfacial and mandibular length, anterior and posterior facial heights, and SN values of the females were higher than males. In the obese group, the mean effective midfacial and mandibular length (Co-A and Co-Gn), anterior and posterior facial heights (S-Go and N-Me), and anterior cranial base (SN) values were significantly higher than other groups. Conclusion: Soft-tissue thicknesses increase as BMI value increases. Craniofacial morphology reveals significant differences between BMI groups.

Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method

BackgroundElevated transforming growth factor-beta (TGF-β) signalling has been implicated in the pathogenesis of Loeys-Dietz syndrome (LDS) and Shprintzen-Goldberg syndrome (SGS). In this study, we provide a qualitative and quantitative analysis of the craniofacial and functional features among the LDS subtypes and SGS.MethodsWe explore the variability within and across a cohort of 44 patients through deep clinical phenotyping, three-dimensional (3D) facial photo surface analysis, cephalometric and geometric morphometric analyses of cone-beam CT scans.ResultsThe most common craniofacial features detected in this cohort include mandibular retrognathism (84%), flat midface projection (84%), abnormal eye shape (73%), low-set ears (73%), abnormal nose (66%) and lip shape (64%), hypertelorism (41%) and a relatively high prevalence of nystagmus/strabismus (43%), temporomandibular joint disorders (38%) and obstructive sleep apnoea (23%). 3D cephalometric analysis demonstrated an increased cranial base angle with shortened anterior cranial base and underdevelopment of the maxilla and mandible, with evidence of a reduced pharyngeal airway in 55% of those analysed. Geometric morphometric analysis confirmed that the greatest craniofacial shape variation was among patients with LDS type 2, with distinct clustering of patients with SGS.ConclusionsThis comprehensive phenotypic approach identifies developmental abnormalities that segregate to mutation variants along the TGF-β signalling pathway, with a particularly severe phenotype associated with TGFBR2 and SKI mutations. Multimodality assessment of craniofacial anomalies objectively reveals the impact of mutations of the TGF-β pathway with perturbations associated with the cranium and cranial base with severe downstream effects on the orbit, maxilla and mandible with the resultant clinical phenotypes.

Craniofacial and Craniocervical Features in Cartilage-Hair Hypoplasia: A Radiological Study of 17 Patients and 34 Controls

BackgroundBiallelic mutations in the non-coding RNA gene RMRP cause Cartilage-hair hypoplasia (CHH), a rare skeletal dysplasia in which the main phenotypic characteristic is severe progressive growth retardation.ObjectiveThis study compared the cranial dimensions of individuals with CHH to healthy subjects.MethodsLateral skull radiographs of 17 patients with CHH (age range 10 to 59 years) and 34 healthy individuals (age range 10 to 54 years) were analyzed for relative position of the jaws to skull base, craniofacial height and depth, as well as vertical growth pattern of the lower jaw, anterior cranial base angle, and the relationship between the cervical spine and skull base.ResultsWe found that the length of the upper and lower jaws, and clivus were significantly decreased in patients with CHH as compared to the controls. Anterior cranial base angle was large in patients with CHH. Basilar invagination was not found.ConclusionThis study found no severe craniofacial involvement of patients with CHH, except for the short jaws. Unexpectedly, mandibular deficiency did not lead to skeletal class II malocclusion.Clinical ImpactAlthough the jaws were shorter in patients with CHH, they were proportional to each other. A short posterior cranial base was not associated with craniocervical junction pathology.

Differences of anteroposterior facial dimensions in male and female children on intermediate mixed and early permanent dentition using Cervical Vertebrae Maturation Index

Introduction: Cervical vertebrae are one of the indicators for craniofacial bones maturation. Timing of craniofacial bone maturation determined achievement of orthodontic early treatment. Some previous researchers recommended cervical vertebral maturation to assess craniofacial growth. This study was aimed to analyse the differences of anteroposterior facial dimensions in male and female children on intermediate mixed and early permanent dentition using Cervical Vertebrae Maturation Index (CVMI). Methods: An analytic observational study with a cross-sectional design was conducted on the students of Islamic Elementary School (Madrasah Ibtidaiyah) in Depok district, Sleman, Yogyakarta, from July 2019 to January 2020. Subjects consisted of 22 males and 22 females aged 8-11 years, obtained by a consecutive sampling technique. The anteroposterior facial analysis was performed on the lateral cephalometry for measuring the distance of Sella turcica to Nasion (S-N) representing the anterior cranial base, Posterior Nasal Spine to Anterior Nasal Spine (PNS-ANS) representing the maxilla and Gonion-Menton (Go-Me) and Condylion-Gnathion (Co-Gn) represents the mandible. Assessment of CVMI was decided by the Hassel and Farman methods. Data were analysed by One Way ANOVA. Results: The mean value of S-N, PNS-ANS, Go-Me, and Co-Gn dimensions, generally were higher in males than females; however, only dimensions of maxillary and mandibular were showed significant difference (p<0.05), while the S-N dimension was not significantly different (p>0.05). At the interval of CVMI 3 and 4, the Go-Me and Co-Gn dimensions showed a significant difference (p<0.05) both in males and females. Conclusion: There was a difference in anteroposterior dimensions of the maxillary and mandibular in cervical vertebral maturation in children with intermediate mixed and early permanent dentition, however, no difference was found in the anterior cranial base.

Reliability of Different Anterior Cranial Base Reference Areas for Voxel-Based Superimposition

The study aimed to evaluate the reliability and reproducibility and compare the outcomes of two 3D voxel-based superimposition techniques for craniofacial CBCT images, using anterior cranial base areas of different extent as references. Fifteen preexisting pairs of serial CBCTs (initial age: 11.7 ± 0.6 years; interval: 1.7 ± 0.4 years) were superimposed on total anterior cranial base (TACB) or middle anterior cranial base (MACB) structures through the Dolphin 3D software. The overlap of the reference structures was assessed visually to indicate reliability. All superimpositions were repeated by the same investigator. Outcomes were compared to assess the agreement between the two methods. Reliability was perfect for the TACB and moderate for the MACB method (p = 0.044). Both areas showed good overall reproducibility, though in individual cases there were notable differences for MACB superimpositions, ranging from −1.84 to 1.64 mm (TACB range: −0.48 to 0.31 mm). The overall agreement in the detected T0/T1 changes was also good, though it was significantly reduced for individual measurements (median < 0.01 mm, IQR: 0.46 mm, range: −2.81 to 0.73 mm). In conclusion, the voxel-based superimposition on TACB was more reliable and showed higher reproducibility than the superimposition on MACB. Thus, the extended anterior cranial base area is recommended for the assessment of craniofacial changes.

Appropriateness of standard cephalometric norms for the assessment of dentofacial characteristics in patients with cleidocranial dysplasia

Objectives: Cleidocranial dysplasia (CCD) is a rare skeletal syndrome affecting craniofacial and dental development. As a consequence, conventional cephalometric landmarks may not be valid for CCD patients, and the appropriateness of norms used for the general population should be critically discussed. Methods: Five patients 9 to 22 year-old (three females, two males) with CCD were included. Lateral-cephalograms, orthopantomographies, and intra oral photos were retrospectively analysed. Lateral-cephalograms of fifty normal controls (ten for each CCD patient) matched for age and sex were selected from an online database. Cephalometric measurements of each CCD patients were compared with average values of matched controls using Wilcoxon signed-rank test for paired values (α = 0.05). Results: In CCD patients, a shortening of the cranial base was present (ΔSN = −17.1 mm, p = 0.043). Thus, the mandible (ΔSNPg =+9.5°, p = 0.043) and the maxilla (ΔSNA =+11.2°, p = 0.043) showed protrusion compared to the cranial base, despite a reduced maxillary (ΔCo-A = −15.1 mm, p = 0.043) and mandibular (ΔCo-Gn −15.2 mm, p = 0.080) length. The mandibular divergence was reduced (ΔSN/GoGn = −6.4°, p = 0.043), a negative overjet was present (ΔOverbite = −2.9 mm, p = 0.043), and the interincisal angle was increased (ΔInterincisalAngle =+13.7°, p = 0.043), mainly due to retro-inclination of lower incisors. Conclusions: Standard cephalometric norms for the assessment of horizontal jaw position may not be applicable to CCD patients because of a reduced anterior cranial base length compared to normal subjects. Vertical relationships may not be affected, and mandibular hypodivergency was confirmed.

RADT-24. SYNTHETIC TREATMENT OF CENTRAL NERVOUS SYSTEM EWING/PRIMITIVE NEUROECTODERMAL TUMOR (EWING/PNET): A CASE REPORT

Ewing/PNET is a rare tumor of the central nervous system. After the standard treatment, there’re still 86.7% of patients had recurrence and no standard treatment after recurrence. Here we report a case of Ewing/PNET with a good survival after synthetic treatment to provide evidence for future clinical strategies. A 23-year-old male underwent resection of the left frontal tumor on April 28, 2017, the pathological diagnosis was Ewing/PNET. He received whole brain radiotherapy 36Gy in 18 fractions, and tumor bed boost to 56Gy in 28 fractions, with 3 courses of Nedaplatin adjuvant chemotherapy. The tumor recured 23 months after the surgery. The patient underwent the second resection, followed by 4 courses of ADM+VCR+CTX/IE chemotherapy. However, 27 months after the first surgery, the tumor evaluation progressive resection of recurrent tumors in the anterior cranial base-ethmoid sinus. During the chemotherapy, MRI showed that tumor still increased. There was a mass in the root of the forehead and nose. After the third recurrence, the patient received re-radiotherapy (50Gy in 25 fractions) 29 months later after the first RT. The tumor was significantly reduced after radiotherapy. Physical examination showed that the sense of smell continued to weaken, the visual acuity was the same as before. 8 courses of VIT (Irinotecan, vincristine, temozolomide) were followed by second RT, tumor was assessed every 2 courses. 44 months after the first surgery, he suffered a third recurrence in spina cord. And then he received rescue RT (20Gy in 10 fractions) in the recurrent tumor. The tumor was reduced after local radiotherapy. He was undergoing follow-up till May 2021, And the OS is 49 months. In conclusion, the incidence of this disease is low, especially in adults. However, the prognosis is poor. Early detection, early operation, combined with radiotherapy and chemotherapy are promising to improve the efficacy of Ewing/PNET.