Pahadia M, et al. Imaging Sci Dent. 2020 Sep;50(3):269-272. https://doi.org/10.5624/isd.2020.50.3.269

Background: Down syndrome (DS) is a genetic condition characterized by an extra copy of chromosome 21, resulting in various physical and cognitive features. This study aimed to comprehensively analyze the dental and craniofacial morphology of individuals with DS using Cone Beam Computed Tomography (CBCT). Methods: Six individuals with DS, comprising five males and one female aged 17 to 35 years, underwent CBCT scanning. Radiographic assessments included dentition, occlusion, paranasal sinuses, airway, skull bones, and suture calcification. Linear and angular cephalometric measurements were performed, and airway analysis was conducted using Dolphin 3D imaging software v.11. Results: The study revealed prognathic maxilla in five patients, prognathic mandible in four, and bimaxillary protrusion in two. Dental findings included microdontia, enamel hypoplasia, and congenitally missing teeth, with maxillary and mandibular third molars most commonly absent. Sinus abnormalities, delayed suture closure, and cervical spine anomalies were also observed. Conclusion: These findings contribute to a deeper understanding of DS-related craniofacial characteristics and emphasize the importance of considering these morphometric features in clinical management strategies for individuals with DS. This study’s limited sample size underscores the significance of radiographic assessment in planning interventions such as cosmetic reconstructions, prosthetic rehabilitation, or orthodontic treatment for individuals with DS.

Background: Morphological differences in the temporomandibular joint (TMJ) are crucial for the treatment of patients with cleft lip and palate (CLP). This study aims to evaluate and compare the TMJ parameters in patients with unilateral and bilateral CLP across growing and non-growing age groups using cone-beam computed tomography (CBCT). Methods: CBCT records from 57 patients (23 males and 34 females) aged 6–50 years with a diagnosed unilateral or bilateral CLP were analyzed. Patients were categorized into four groups: growing unilateral (UGCLP), growing bilateral (BGCLP), non-growing unilateral (UNGCLP), and non-growing bilateral (BNGCLP). Measurements of TMJ parameters, including the mandibular fossa, articular eminence inclination, joint spaces, and roof thickness of the glenoid fossa, were conducted using CBCT images. Results: Significant differences were observed in the anterior joint space (AJS) and the roof of the glenoid fossa (RGF) between growing and non-growing unilateral cleft patients. Additionally, significant discrepancies were found in the articular eminence angle when comparing the cleft and non-cleft sides within the unilateral growing group. No significant differences were observed in TMJ parameters between the right and left sides among bilateral cleft patients. Conclusions: The study highlights distinct TMJ morphological differences between growing and non-growing patients with CLP, emphasizing the importance of age-specific considerations in the treatment planning and growth monitoring of these patients.

Background: Ewing sarcoma (ES) is a rare malignant bone tumor with predilection for the mandible and maxilla in the head and neck region. However, existing literature comprises fragmented case reports and small case series that fail to establish consolidated, evidence-based understanding of characteristic radiological patterns in the maxillofacial region, hindering timely diagnosis and potentially leading to misdiagnosis or delayed intervention. Methodology: A systematic review and pooled patient-level descriptive analysis were conducted according to the PRISMA guidelines and pre-registered on PROSPERO. Comprehensive searches of PubMed, OVID, and Cochrane databases (inception to July 2025) identified studies reporting radiological findings of biopsy-confirmed maxillofacial Ewing sarcoma. Quality assessment using Joanna-Briggs Institute criteria ensured inclusion of only high-quality cases (quality score ≥4/5). Synthesis Without Meta-analysis (SWiM) methodology with pooled prevalence estimation and binomial vote-counting analysis were employed for 68 published cases. Results: Four radiological features demonstrated consistent predominance across pooled cases: soft tissue mass presence (100%, 95% CI: 94.7–100.0%), enhancing soft tissue (77.6%, 95% CI: 65.8–86.9%), cortical destruction (69.0%, 95% CI: 55.5–80.5%), and notably, absence of periosteal reaction (84.7%, 95% CI: 73.0–92.8%). Location-specific radiological phenotypes were evident: maxillary tumors demonstrated near-universal sinus involvement (100%) with high soft tissue enhancement (92.3%), whereas mandibular tumors showed predominant cortical destruction (80.0%) and teeth involvement (81.2%). Conclusion: MRI and CT are essential for characterizing the distinctive radiological profile of maxillofacial Ewing sarcoma, enabling early identification and improving patient outcomes in this rare malignancy. Highlights: First pooled review to summarize imaging features of maxillofacial Ewing sarcoma Analysis of 68 published cases reveals consistent imaging patterns. Most tumors show soft tissue mass and bone damage without surface reaction. Jaw tumors differ from long bone tumors in their imaging appearance. Upper and lower jaw tumors show distinct location-specific features.