Search Results (304)

Objective: Implant rehabilitation in grafted alveolar clefts requires a complex staged reconstructive approach, and a clinically important yet underexplored question is which patients require additional pre-implant block regrafting after primary grafting has already been completed. This single-centre retrospective cohort study aimed to evaluate whether a history of maxillary advancement is associated with a reduced likelihood of requiring pre-implant block regrafting (defined here as Re-graft 1), and to describe medium-term implant survival outcomes in a cleft implant cohort. Methods: Forty-two patients with Veau class III or IV cleft palate who underwent implant rehabilitation in grafted alveolar cleft sites between 2011 and 2023 were included. A total of 80 dental implants were evaluated at the implant level; analyses of primary grafting outcomes and the need for Re-graft 1 were performed at the patient level. Mean age at implant placement was 21.07 years (range, 17–38 years); mean follow-up was 83 months. Patients were categorised by maxillary advancement history: distraction osteogenesis (n = 11), orthognathic Le Fort I advancement (n = 9), or no advancement (n = 22). Bergland grades were assigned independently by two attending surgeons from postoperative radiographs. Implant outcomes were classified using the ICOI/Misch four-level scale (success, satisfactory survival, compromised survival, failure). Group comparisons used chi-square and Fisher’s exact tests. Results: Patients with any maxillary advancement history were significantly less likely to require Re-graft 1: 65.0% of patients with advancement did not require Re-graft 1, compared with 27.3% in the no-advancement group (Fisher’s exact p = 0.029; OR = 4.95). Overall implant survival was 93.75%; 58.75% of implants were classified as complete success, and 30.00% as satisfactory survival. Conclusions: In this observational, hypothesis-generating cohort, maxillary advancement history was associated with a lower likelihood of requiring pre-implant block regrafting. Implant rehabilitation showed favorable medium-term survival. These findings are limited by the retrospective single-center design, modest sample size, and absence of multivariable adjustment, and require confirmation in larger prospective studies with standardized regrafting criteria. Full article

Human unilateral cleft lip morphopathogenesis is a complex process involving multiple genes and proteins. Factors such as myosin heavy chain 3 (MYH3), interferon regulatory factor 6 (IRF6), and Gremlin 1 (GREM1) are implicated in craniofacial development; however, their precise role in unilateral cleft formation remains unclear, limiting improvements in treatment strategies. Immunohistochemistry (IHC) for MYH3, IRF6, and GREM1 proteins and chromogenic in situ hybridization (CISH) for IRF6 and GREM1 genes were used to analyze postnatal unilateral right cleft lip tissue (ten patients) and control tissue (six patients). The semi-quantitative counting method was applied, followed by statistical analysis. IHC revealed increased MYH3 expression in cleft muscle tissue and elevated IRF6 expression in the epithelium, whereas GREM1 showed low expression, with significant differences in connective tissue. CISH demonstrated increased IRF6 gene expression in the cleft epithelium, whereas GREM1 expression did not differ from controls. Multiple statistically significant correlations were identified, highlighting their potential involvement in cleft morphopathogenesis. Full article

Background/Objectives: Accurate quantification of alveolar cleft defects for bone grafting remains difficult due to inconsistent anatomical boundaries. This study established an expert consensus on boundary landmarks for alveolar bone graft (ABG) planning and validated the accuracy and reliability of digital volumetric measurement methods. Methods: Three cleft specialists performed repeated simulated graft procedures in seven patient-specific 3D-printed models, first according to the operator’s clinical judgment, and subsequently according to panel-derived consensus boundaries. Two radiologists independently conducted digital volumetric assessments in 3D X-ray imaging using four measurement approaches (axial tracing, interpolated axial tracing, landmark-based mirroring, and mesh-based mirroring), generating 56 independent digital segmentations to be evaluated against the consensus-based physical reference standard. Volumes of the defects were recorded, intra- and inter-rater reliabilities were calculated using the intraclass correlation coefficient (ICC), and differences among methods were analyzed. Results: Operator-defined plans showed significant inter-operator differences (p < 0.001) with poor-to-excellent reliability (intra-rater ICC 0.060–0.967; inter-rater ICC 0.300–0.635). Consensus established standardized boundaries: tilted plane from base of anterior nasal spine to hard palate, cemento-enamel junctions, incisive canal, and alveolar contour. Consensus-based filling showed non-significant inter-rater differences (p = 0.139) and substantially improved reliability (intra-rater ICC 0.904–0.988; inter-rater ICC 0.622–0.861). Among the four digital methods evaluated, axial tracing demonstrated excellent reliability (intra-rater ICC 0.971–0.99; inter-rater ICC 0.965) and high accuracy (mean difference 0.001–0.026 cm³), with no significant difference (p = 0.999) from the physical reference standard. Conclusions: These proposed consensus-based boundary definitions and validated volumetric measurement methods improved the accuracy and reproducibility of personalized alveolar bone graft planning. Full article

Background: Cleft lip and/or palate (CLP) is a common craniofacial malformation with aesthetic, functional, and psychosocial impacts. Although surgical repair is performed early in life, scar tissue formation may intensify maxillary deformities. Presurgical orthopedic interventions have therefore been introduced to optimize anatomical conditions prior to surgery. This scoping review aimed to systematically map presurgical orthopedic approaches described in the literature for patients with CLP. Methods: A Scoping Review was conducted in accordance with PRISMA-ScR guidelines. The protocol was registered in the Open Science Framework. Searches were performed in PubMed, Embase, Web of Science, and Cochrane databases without language or date restrictions. Two independent reviewers assessed the articles and extracted data. Results: A total of 207 studies were included, with a predominance of case series, case reports, and cohort studies, reflecting a generally low level of evidence. Nasoalveolar molding (NAM) was the most frequently reported intervention, while other appliances such as the Hotz plate and Latham device were considerably less represented. Across studies, reported outcomes included reduction of the alveolar cleft, improved nasal symmetry, and facilitation of feeding; however, variability in protocols and outcome measures limited comparability. Conclusions: The available evidence is heterogeneous and largely based on observational designs, which restricts definitive conclusions regarding the comparative effectiveness of presurgical orthopedic approaches. The predominance of NAM in the literature may reflect clinical preference rather than superior evidence, highlighting the need for standardized protocols and higher-quality studies. Full article

Background and Objectives: Dental implant placement in grafted alveolar cleft sites has become an integral component of comprehensive cleft rehabilitation. However, survival outcomes vary across studies, and temporal trends in clinical performance have not been systematically quantified. This review aimed to evaluate implant survival in grafted alveolar cleft patients and to compare outcomes between early and modern treatment eras. Materials and Methods: A systematic search of the PubMed, Web of Science, Cochrane Library, and Wiley databases was performed in accordance with PRISMA guidelines. Clinical studies reporting implant survival in grafted alveolar cleft sites with a minimum follow-up of 12 months were included. Data extraction encompassed implant survival, timing of placement, grafting protocols, and reported causes of failure. For temporal comparison, studies were stratified into an early era (1997–2008) and a modern era (2010–2026). Weighted pooled survival rates were calculated, and differences between proportions were assessed using a two-proportion Z-test (p < 0.05). Results: 18 studies met the inclusion criteria, representing 1561 implants placed in grafted alveolar cleft sites. Overall reported survival ranged from 80% to 100%. Weighted pooled survival increased from 91.2% (95% CI: 87.9–94.5) in early studies to 94.2% (95% CI: 92.9–95.5) in modern cohorts, demonstrating a statistically significant 3.0% absolute improvement (p = 0.038). Implant failures occurred predominantly during the early osseointegration phase and were commonly associated with insufficient graft volume or inadequate primary stability. Late biological complications were infrequently reported. Conclusions: When appropriate bone reconstruction, healing, and multidisciplinary coordination are achieved, implant therapy represents a reliable component of comprehensive cleft care. Further prospective studies with standardized protocols and long-term follow-up are needed to strengthen evidence-based recommendations. Full article

Background/Objectives: The aim of this study was to compare two methods for maxillary sinus volume measurement, assessing their accuracy. The analysis compared the maxillary sinus volume in patients with unilateral cleft lip and palate (UCLP) and in a non-cleft group, using a manual method and a three-dimensional (3D) semi-automated segmentation method. Methods: The research was conducted according to the STROBE guidelines. Sixty patients were included in this study: thirty patients with UCLP were in the research group, and the control group consisted of 30 patients with no craniofacial deformities. Cone-beam computed tomography (CBCT) was analyzed. The manual maxillary sinus volume was calculated based on its approximation to two geometric shapes based on mathematical formulas using linear measurements that were performed on all sinus CBCT scans in the maximum diameter in three planes. The semi-automatic segmentation method using ITK-SNAP 3D-imaging software version 4.2.2 was used to automatically calculate the maxillary sinus volume of the sinuses. The manually calculated volume was compared with the automatically calculated one, and statistical analysis was performed. Results: The cleft group presented lower values in both the automatic and manually calculated volumes for both the right (automatic: p = 0.49; manual p = 0.009) and left (automatic: p = 0.46; manual p = 0.11) maxillary sinuses than the non-cleft group. The cleft group presented statistically significant higher discrepancies in values between the manual and semi-automatic method than the control group (RMSV p = 0.0011; LMSV p = 0.033; TMSV p = 0.003). Conclusions: The manual method may not reveal the exact anatomical topography of the maxillary sinuses. In UCLP patients, the maxillary sinus anatomy may be more complex. Therefore, a semi-automated method may be more advisable to preserve the accuracy of the measurements. Full article

Background: 22q11.2 deletion syndrome (22q11.2 DS) is a rare genetic syndrome characterized by high phenotypic variability, with an incidence of approximately 1:4000 live births. Most of the existing literature consists of case reports or case series, making it challenging to obtain large cohorts for data comparison and drawing generalizable conclusions. Aim: The aim of this article is to share the clinical experience of patients with 22q11.2 DS who were previously evaluated by Child Neuropsychiatry and underwent odontoiatric procedures at the Dental Unit of the Policlinico di Bari. Methods: We report three clinical cases of pediatric patients with 22q11.2 DS who were managed at the University Dental Unit of the Policlinico di Bari for dental procedures, including pre/post-treatment images and child neuropsychiatric characteristics. Results: Cleft lip and cleft palate are the most commonly encountered facial malformations. Enamel hypoplasia and hypomineralizations, caries, dental agenesis, and hypodontia are reported with variable frequency in almost all studies considering the oral health of these patients. Our experience is coherent with the data present at the moment. The clinical examinations showed diffuse hypomineralization and several caries, concordant with the literature. One patient received moderate sedation and another received general anesthesia; oral prophylaxis, fluoride application, pulp therapy, extractions of hopeless teeth and restorations of carious and hypomineralized teeth were performed. Conclusions: 22q11.2 DS is a genetic condition with a variable prognosis, but current trends show that patients often reach adulthood, primarily due to advancements in cardiology, which was previously the leading cause of mortality in these patients. From this perspective, collaboration among various medical specialties is crucial to implement holistic patient management programs and early interventions. Full article

Objective: Bilateral cleft lip and palate (BCLP) is a craniofacial malformation often associated with anatomical and functional impairments, including a shallow oral vestibule in the premaxillary region. This condition requires a vestibuloplasty to restore the space between the teeth and upper lip, also improving aesthetics. Traditional techniques frequently require autologous grafts, leading to increased morbidity. Tissue bioengineering provides suitable alternatives. Methods: We present the case of a 19-year-old female, who had undergone several surgeries for BCLP management, complaining of a lack of upper lip projection and an insufficient vestibular dept in the premaxilla region. We reported short-term follow-up using Acellular Fish Skin Graft (AFSG, Kerecis™) as a substitute to autologous graft to perform a vestibuloplasty. Outcome assessment was based on clinical measurements. Results: The graft showed early signs of vascularization. Clinical outcomes included improved vestibular depth, from 1 mm preoperatively to 8 mm, upper lip projection, and functional mobility after a six-month follow-up period. The patient experienced an uneventful recovery and was satisfied with the aesthetic result. Conclusions: This case, presenting the first application of AFSG in vestibuloplasty, tends to reassure us about its safety. AFSG might be an effective biocompatible alternative to autologous grafts in vestibuloplasty, offering promising results in mucogingival reconstruction. Further studies are needed to confirm long-term stability and integration in oral tissues. Full article

Background: Congenital anomalies are influenced by genetic and environmental factors. While interventions including folic acid supplementation have reduced neural tube defects, data on modifiable socio-demographic risk factors remain limited. Aim: This study aimed to assess variation in the prevalence of selected congenital anomalies across the United States according to socio-demographic factors. Methods: A population-based analysis was conducted using CDC-WONDER natality data from 2016 to 2023. Included anomalies were anencephaly, spina bifida, cyanotic heart disease, diaphragmatic hernia, omphalocele, gastroschisis, limb reduction, cleft lip/palate, Down syndrome, chromosomal disorders, and hypospadias. Associations with maternal age, BMI, race, tobacco use, diabetes, and fertility treatments were analyzed. Prevalence rates were calculated per 1000 live births. Relative risks (RRs) and 95% confidence intervals (CIs) were estimated. Joinpoint regression was used to assess annual percent changes (APCs), with p < 0.05 considered significant. Results: Among 3,482,944 singleton live births in 2023, the overall prevalence of the selected congenital anomalies was 3.3 per 1000. Compared to Caucasian mothers, risk was lower in Asian (RR 0.57; 95% CI: 0.52–0.63) and Black (RR 0.81; 95% CI: 0.76–0.85) infants and higher in American Indian/Alaska Native infants. Significant risk factors included pre-pregnancy diabetes (RR 2.41; 95% CI: 2.16–2.69), maternal age > 45 (RR 2.95; 95% CI: 2.36–3.69), and tobacco use (RR 1.78; 95% CI: 1.64–1.94). A significant decline in prevalence was observed from 2016 to 2023 (APC: −0.6%; 95% CI: −1.1 to −0.2; p = 0.006). Conclusions: Significant disparities and modifiable maternal risk factors were associated with the prevalence of selected congenital anomalies in the U.S. from 2016 to 2023. A modest statistically significant decline in overall prevalence was observed during the study period, supporting the importance of continued national surveillance and targeted preconception and prenatal interventions to reduce risk and address inequities. Full article

Background/Objectives: Isolated cleft lips and/or palates often require orthognathic treatment. Traditional planning based on 2D images and plaster models limits precision; therefore, virtual surgical planning (VSP) and Computer-Aided Design and Computer-Aided Manufacturing (CAD/CAM) technologies are increasingly being used. The aim of this scoping review was to analyze the techniques, outcomes, and gaps in research on VSP in orthognathics for patients with isolated (non-syndromic) clefts. Methods: Searches were conducted in July 2025 in seven databases (including PubMed, Scopus, and Cochrane) without language restrictions, in accordance with the PRISMA guidelines for scoping reviews. Of the 2836 records, 36 publications were eligible after deduplication and full-text screening, and their Level of Evidence (LoE) was assessed using the Oxford CEBM scale. A risk of bias assessment was also conducted according to JBI tools. Results: The identified studies primarily comprised LoE III and IV; there were no systematic reviews or randomized controlled trials (LoE I). Descriptions of bimaxillary procedures and LeFort I osteotomies dominated. The most commonly used software was ProPlan CMF, Dolphin 3D, and Rhinoceros, although other tools have emerged in recent years. The available studies suggest that VSP increases translational and rotational accuracy and facilitates individualized treatment, and bimaxillary procedures bring better functional and aesthetic outcomes in patients with severe maxillary hypoplasia. Conclusions: Despite the growing interest in VSP in orthognathics, the scientific evidence is limited and mostly of lower quality. Well-designed prospective studies are needed to assess the long-term stability, quality of life, and cost-effectiveness of modern technologies. Full article

Background/Objectives: Cleft lip and/or palate are common craniofacial anomalies whose surgical repair is classified as clean-contaminated and may be complicated by surgical site infection or palatal fistula. Despite widespread perioperative antibiotic use, there are no standardized, evidence-based recommendations, and rising antimicrobial resistance underlines the need for rational prescribing. This systematic scoping review aimed to map current evidence on prophylactic antibiotic therapy and related perioperative measures in cleft surgery. Methods: A scoping review was conducted using the Arksey and O’Malley framework and reported in line with PRISMA 2020. PubMed, Mendeley and Google Scholar were searched (January 2015–10 February 2025) for English-language retrospective studies, clinical trials, survey studies and systematic reviews concerning prophylactic antibiotics, bone grafting procedures, mouthwash use or oral microbiota in patients undergoing cleft lip and/or palate surgery. Six reviewers independently screened records; two experienced clinicians extracted data on study characteristics, antimicrobial regimens and infectious or microbiological outcomes. Given heterogeneity and the scoping aim, no formal risk-of-bias assessment or meta-analysis was performed. Results: A total of 40 studies met the inclusion criteria, including 21 original research articles. Considerable variation in antibiotic choice, timing and duration was observed, with no clear superiority of any regimen. Single-dose perioperative prophylaxis appeared non-inferior to prolonged courses in several settings. Oral microbiota studies highlighted colonization by resistant and opportunistic pathogens in cleft patients. Conclusions: Current evidence supports individualized, often short-course perioperative antibiotic strategies rather than routine prolonged therapy. High-quality randomized and microbiological studies are required to develop standardized, resistance-conscious guidelines. Full article

Background: Non-syndromic cleft lip/palate (NCL/P) is a prevalent congenital anomaly. Despite an unclear epidemiological link between orofacial clefts and dental caries, genetic studies suggest that polymorphisms in taste receptor genes may influence caries risk. Objectives: This study had two primary objectives: (1) to compare SNPs in NCL/P-associated genes (IRF6, FOXE1) between Kuwaiti NCL/P cases and controls, and (2) to explore whether variants in caries-associated (KLK4, DSPP) and taste receptor (TAS1R2, TAS2R38) genes are associated with dental caries susceptibility in individuals with NCL/P, independent of overall caries prevalence. Methods: A case–control design was employed, with 25 NCL/P cases and 25 unaffected controls recruited from a Dental Craniofacial Clinic in Kuwait. Genomic DNA was extracted from buccal swabs, and SNP genotyping was performed using real-time PCR for genes related to NCL/P, dental caries, and taste perception. Caries status was assessed using the dmft/DMFT scoring system. The genotyped genes included NCL/P-related (IRF6, FOXE1), caries-related (KLK4, DSPP), and taste receptor genes (TAS1R2, TAS2R38). Results: At nominal significance, KLK4, DSPP, and TAS1R2 showed associations with NCL/P status, while IRF6 and FOXE1 did not. After applying Benjamini–Hochberg FDR correction across 10 SNPs, no allele- or genotype-level association remained significant (q < 0.05). The strongest signal was KLK4 rs2235091 (allele-level p = 0.016; q = 0.159). An exploratory age- and sex-adjusted logistic model for KLK4 suggested a possible effect (aOR 0.40; 95% CI 0.18–0.87; p = 0.021). Within-group analyses of caries burden revealed no associations that survived FDR control (lowest q = 0.056 for FOXE1 in controls). Conclusions: After controlling for multiple testing, no SNP showed a statistically significant association with NCL/P or caries burden. Nominal signals for KLK4, DSPP, and TAS1R2 did not survive FDR correction; an exploratory adjusted model suggested a possible KLK4 effect, but this requires cautious interpretation. The small sample size is a key limitation, and the findings highlight the need for larger, well-powered studies to clarify genetic contributions to NCL/P and caries risk. Full article

Background/Objectives: Multidisciplinary outcome studies are carried out to evaluate long-term treatment in patients with cleft lip and palate. Speech function as one of the key outcomes of the treatment is examined by means of an auditory-perceptual analysis. For scientific and global studies it is essential to reduce the risk of bias as much as possible. The aim of the present study was the examination of auditory-perceptive analyses on the basis of an outcome study. Reliability was evaluated. Methods: Twenty patients were examined to evaluate their speech function. The speech sample was obtained via the online tool Zoom™. The speech sample consisted of single words (picture supported), a version of the German “Great Ormond Street Speech Assessment” (GOS.SP.ASS) sentences and spontaneous speech. The analysis was carried out by three experienced examiners, all using the German version of the Universal Reporting Parameters at two different times. The intrarater and interrater reliability were calculated. Results: Twenty participants with unilateral cleft and palate and a minimum age of 18 years (ø 20.1) were enrolled in the analysis of the speech function. None of the participants had undergone a secondary operation due to velopharyngeal incompetence. The examination happened at a point in time before an osteotomy might be needed. The multidisciplinary treatment of the 20 participants regarding their speech function was successful. There were only marginal abnormalities. The listeners showed a very good intrarater and moderate interrater reliability (ICC/Fleiss’ kappa). An overall percentual agreement of 88.3% was achieved. Conclusions: These positive results cannot be compared with outcome studies on a national or international level, since the construction of the speech sample as well as the structure and the implementation of the auditing process reveal considerable deficiencies in methodological rigor. The small number of examiners and patients as well as the patients’ minor residual impairments influence the significance of the statistical calculation by kappa and ICC. The auditory-perceptual analysis should be validated for German-speaking countries. Full article

Background/Objectives: Inclusive nutrition services and data on children with disabilities living in low- and middle-income countries remain limited. We estimated the prevalence of undernutrition and described feeding practices and difficulties among children with disabilities ages birth to 10 years at a rehabilitation hospital in Uganda and identified barriers and opportunities for inclusive nutrition. Methods: This cross-sectional study enrolled 428 children. Data included demographics, weight, height, mid–upper arm circumference (MUAC), hemoglobin levels, risk for feeding difficulties, caregiver-reported feeding practices, and functional difficulties complemented by 32 caregiver and stakeholder interviews. Undernutrition was defined using WHO z-scores, MUAC, and anemia cutoffs. Associations were examined using Pearson’s chi-squared tests and adjusted odds ratios from logistic regression. Results: Over half of participants were boys (56.1%) and 65.9% were <24 months old. Common conditions included cleft lip/palate (55.4%) and cerebral palsy (38.6%). Undernutrition was prevalent: 45.2% were underweight, 38.3% stunted, 16.1% wasted (by MUAC), and 39.5% anemic. Being at risk for feeding difficulties (67.2% of children) increased the odds of underweight [AOR = 2.28 (1.23–4.24)], stunting [2.46 (1.26–4.79)], and wasting [2.43 (1.10–5.35)] after adjusting for covariates. Bottle-feeding increased the odds of stunting [3.09 (1.24–7.70)] in infants with cleft lip/palate < 12 months old. Poor access to services, food insecurity, and feeding challenges were key barriers to optimal nutrition. Most caregivers reported using practices that support responsive feeding. Conclusions: Reported barriers to services and high levels of undernutrition, strongly linked to feeding difficulties, underscore the need for targeted feeding interventions and better access to inclusive nutrition services in Uganda. Full article

The craniofacial skeleton is a complex three-dimensional structure, and major reconstructive cases remain challenging. We describe a synergistic approach combining intra-operative navigation, three-dimensionally (3D) printed skull models, and mixed reality (MR) to improve predictability in surgical outcomes. A patient with previously repaired bilateral cleft lip and palate, significant midfacial retrusion, and a large maxillary alveolar gap underwent segmental Le Fort I osteotomy and advancement. Preoperative virtual planning was performed, and reference templates were uploaded onto MR glasses. Intra-operatively, the MR glasses projected the templates as holograms onto the patient’s skull, guiding osteotomy line marking and validating bony segment movement, which was confirmed with conventional navigation. The 3D-printed skull model facilitated dissection and removal of intervening bony spicules. Preoperative planning proceeded seamlessly across software platforms. Osteotomy lines marked with MR showed good concordance with conventional navigation, and final segment positioning was accurately validated. Postoperative outcomes were satisfactory, with re-established occlusion and closure of the maxillary alveolar gap. The combined use of conventional navigation, 3D-printed models, and MR is feasible and allows safe integration of MR into complex craniofacial reconstruction while further validation of the technology is ongoing. Full article