Cleft Defects Research Articles

Clinical Efficacy of Nasoalveolar Moulding Using Aligner NAM During Presurgical Infant Orthopaedics (PSIO) in Infants With Unilateral Cleft Lip and Palate (UCLP): A Retrospective Study.

The study compares and evaluates planned virtual outcomes with actual post-treatment outcomes to assess the accuracy and predictability of clinical results during presurgical infant orthopaedics (PSIO) with AlignerNAM in infants with unilateral cleft lip and palate. Institutional study. 14 UCLP patients. Digital models for infants with unilateral cleft lip and palate (UCLP) who had undergone PSIO with AlignerNAM between 1 and 6 weeks were obtained at three stages-pretreatment (To), planned (Tp) and post-treatment (T1). Linear and angular measurements were made on these using the OrthoAnalyser software (3Shape, Copenhagen, Denmark). A paired t-test and Bland-Altman analysis assessed the accuracy between predicted and achieved movements, while inter- and intra-rater reliabilities were also calculated using digital records of seven patients. The study found no significant difference (p > 0.05) between the clinical outcome (post-treatment) values and the predicted values (obtained from the virtual post-treatment simulation/planned movement). The sagittal reduction in the cleft defect demonstrated the highest accuracy (97.71%), followed by the transverse reduction (95.1%). Overall, linear measurements achieved an accuracy of 94.57% and angular measurements an accuracy of 93.64%. All measurements were within the limits of agreement based on the Bland-Altman plots. The widths of limits of agreement were narrow and similar for both linear and angular measurements showing high levels of agreement. AlignerNAM showed high accuracy in reducing cleft size and aligning alveolar segments in UCLP patients, achieving accuracy rates above 90% in both linear and angular dimensions. AlignerNAM appliance is a suitable alternative to conventional PSIO techniques.

The Preliminary Results of a Modified Von Langenbeck Cleft Palate Repair With Tension-free Mucoperiosteal Flap Near Nasal Cavity Without Relaxation Incision.

To explore the application of modified Von Langenbeck cleft palate repair with tension-free mucoperiosteal flap near the nasal cavity and without relaxation incision, and the cleft palate defect was repaired by covering both sides of the edge of the in situ mucoperiosteal flap. This treatment method provides a good aesthetic restoration effect. Modified Von Langenbeck cleft palate repair with mucoperiosteal flap near the nasal cavity without tension and relaxation incision was used to repair the cleft palate. At the same time, the affected side nasal malformation was corrected. The modified Von Langenbeck cleft palate repair with mucoperiosteal flap near the nasal cavity without tension and relaxation incision is a good choice, without additional relaxation incision near the gingiva, which is closest to the physiological state of anatomic repair. The mucosa and gingival side palatal mucosa return to where they should be. There was no limited mouth opening and scar contracture of loose incision near the gingiva. The modified Von Langenbeck cleft palate repair with mucoperiosteal flap near the nasal cavity without tension and relaxation incision is a safe and reliable method with a high success rate and simple operation for various types of cleft palate. Even if the cleft palate recurs, this mucosal flap can be used again to repair it.

Transcriptional factor ISL1 regulates palate development by tuning the SHH cascade.

Cleft palate is one of the most common birth defects in humans, and palate morphogenesis depends on epithelial-mesenchymal interaction. In this study, we report that ablation of Isl1 in the epithelium leads to complete cleft palate. A significant reduction in mesenchymal cell proliferation was detected in the Isl1Pitx2Cre mutant palates, but there was no significant difference in apoptosis between wild-type and mutant embryos. Fewer rugae structures were observed in Isl1Pitx2Cre mutant embryos. Shh, Sox2, Foxe1, Foxd2, and Msx1 expression was downregulated in the developing palate in Isl1 mutant embryos. We found that ISL1 can directly regulate Shh expression in palatal epithelial cells, suggesting a critical role for ISL1 in epithelial-mesenchymal interactions during palate development. Remarkably, cleft palate defects due to Isl1 deletion were rescued by a conditional transgenic allele (Tg-pmes-Ihh), confirming the genetic integration of Hedgehog signaling. Our findings indicate that ISL1 controls palatal shelf morphogenesis by modulating epithelial-mesenchymal communication via SHH signaling.

Pattern of Cleft Lip and Palate According to Gender in Children of Bangladesh

Background: Cleft defects are the most common congenital anomalies of the orofacial region. The typical distribution of cleft type is cleft lip, cleft palate and combined cleft lip and palate. To determine the frequency of Cleft Lip (CL), Cleft Palate (CP) and combined cleft lip and palate (CLP) according to gender. Materials and methods: It is a cross sectional observational study with some analytical components which was carried out in the Department of Anatomy of Chittagong Medical College From April 2021 to March 2022. It was conducted among 100 children of cleft lip and palate. Data was collected from LMRF (Lions Mukhlesur Rahman Foundation) Children Hospital, Smile train (CMSOGH) cleft project and Chattogram Maa Shishu O General Hospital, Agrabad Chattogram. The data were recorded in a predesigned questionnaire. Variables were presented as percentages (%) and were compared by Chi-Square test. All statistical analysis were performed using SPSS statistics for Windows, version 26.0. Finally the results were presented using tables and figures. Results: Among the 100 participants there were 58 male and 42 female children with a ratio of 1.38:1. 68% had combined cleft lip and palate, 22% had isolated cleft palate and only 10% had isolated cleft lip. Among the 10 children with cleft lip 4 were male and 6 were female. 80% of the cleft lip was on the left side. Among 22 children of cleft palate 9 were male and 13 were female. Lastly among 68 children of cleft lip and palate 45 were male and only 23 were female. 44% of cleft lip and palate was on the left side, 32% bilateral and only 24% was on the right side. Conclusion: This study reported the pattern of cleft defects with gender distribution in our country which shows females are more likely to have isolated CL and CP and males have CLP predominantly. Chatt Maa Shi Hosp Med Coll J; Vol.22 (2); July 2023; Page 3-7

Epidemiology of Orofacial Clefts: A Spatio-Temporal Descriptive Analysis in Tripoli, Libya, 2017-2021

Orofacial clefts are the most common congenital anomalies affecting the orofacial region. An abnormal facial development causes this congenital deformity during gestation; its aetiology is multifactorial. It is crucial to understand the prevalence of craniofacial anomalies in each community to determine the size of the problem, enhance the life standards for the patients, and assess the efficacy of interventions. In this study, we aimed to provide a picture of the prevalence of orofacial clefts in Tripoli, Libya. Also, it provides a useful reference for cleft-type distribution with their etiological risk factors. The data was collected from the archives of cleft babies referred to major specialized hospitals in Tripoli, Libya, from 2017 to 2021. Variables were collected and analyzed, including data related to cleft cases and their parents. During the study period, the incidence of orofacial clefts was 1.06 per 1,000 live births. The prevalence of cleft lip was 38.3%, cleft palate was 42.2%, and cleft lip with palate was 19.6%. The results showed that 2017 had the highest incidence rate, reaching 32.2%, while it was 8.3% in 2021. The prevalence was generally higher among males than females, at a difference rate of 3.47%. A history of folic acid deficiency and unsupervised drug intake during pregnancy was noted (58.3% and 61.7%, respectively). In addition, the higher prevalence was more common among mothers older than 34. Moreover, it has observed that 46.8% of patients` fathers were smokers. The study concluded that the incidence of cleft defects in Tripoli, Libya, was relatively low, and the role of the predisposing factors in increasing the incidence of cleft deformity remains uncertain. Further studies are recommended to find out the root cause.

Management of Smith-Lemli-Opitz Syndrome Type II associated with Cleft Palate

Rationale: This case report presents the management of a patient with the rare occurrence of SmithLemli-Opitz Syndrome (SLOS) and complete cleft palate Patient Concerns: The patient's cleft palate repair was not done in infancy, and she reported to the dental institution complaining of difficulty with proper food intake and speech. A clinical examination revealed muscle deformity, limited neck mobility, scoliosis, malocclusion, and inadequate oral health. The patient exhibited facial and limb anomalies characteristic of SLOS, in tandem with substantial challenges in speech and nutrition due to the cleft palate. Diagnosis: The patient was referred to the dental wing to manage the cleft palate defect. On dental examination a complete cleft of the hard and soft palate, which had not been surgically corrected during infancy, was confirmed through clinical and radiological investigation. Additional musculoskeletal complications, including scoliosis and muscle deformity, were also identified. Interventions: The treatment plan addressed both SLOS and cleft palate. A prosthodontic appliance was prepared to assist with palatal function and speech therapy. Comprehensive care for SLOS included genetic counselling, nutrition management, and targeted physical therapy. The patient was also referred to an orthodontist, oral surgeon and a speech-language therapist further intervention. Conclusion: This case emphasizes the importance of early diagnosis and intervention in congenital disorders. It advocates for proactive, multidisciplinary care from infancy to enhance the quality of life for individuals with complex syndromes, underscoring the need for ongoing support and resources

Comprehensive interdisciplinary treatment of patient with unilateral cleft palate and oroantral fistula using archwise Interdental distraction osteogenesis: A case report with 1-year follow-up

A unilateral cleft palate with a wide oroantral fistula necessitates meticulous treatment planning and precise execution to mitigate the risk of relapse. It is arduous to address substantial gaps through conventional surgeries using buccal, labial mucosal flaps, or tongue flaps and is associated with heightened failure rates. In recent years, the introduction of interdental distraction osteogenesis (DO) has facilitated successful interventions in mending extensive cleft defects. In this case report, an adult patient with unilateral cleft palate and oronasal fistula has been successfully managed with orthodontic treatment and interdental DO using a custom-made device. The patient received successful treatment through orthodontic treatment and interdental DO utilizing a custom-made device abiding by Ilizarov’s principles. The size of the oroantral fistula was reduced significantly with a successful approximation of the segments. Subsequently, prosthetic replacement of the distracted segment was performed to restore esthetics. Follow-up images and radiographs showcase the stability and integrity of the arches. The epilogue of this case report is that the implementation of transport distraction can be accounted as an effective treatment approach when meticulously planned and followed through. By integrating early detection, multidisciplinary interventions, and ongoing support, healthcare professionals can significantly enhance outcomes and empower individuals to lead fulfilling lives despite their condition.

Residential Environment and Parental Lifestyle as Risk Factors of The Co-Occurrence of Cleft Lip and Palate Birth Defect Cases in Indonesia

Cleft lip and palate (CLP) are multifactorial birth defects, and the etiology behind their occurrence remains insufficiently understood. This case-control study aimed to investigate the association between residential environmental factors, parental lifestyle, and the risk of CLP in Indonesia. A total of 213 participants from 14 provinces were selected using stratified random sampling. Multivariable logistic regression was employed to determine the odds ratios (ORs) with 95% confidence intervals (CIs) for each risk factor. The study identified significant associations between several residential environmental factors and CLP. Proper kitchen ventilation was found to be protective (OR = 0.245, 95% CI: 0.096–0.624, p = 0.003), while proximity to industrial sites significantly increased the risk (OR = 3.595, 95% CI: 1.029–12.558, p = 0.045). Additionally, using treated drinking water showed a protective effect (OR = 0.39, 95% CI: 0.16–0.95, p = 0.038), whereas concerns about water sources displayed a marginally significant risk increase (OR = 2.841, 95% CI: 0.876–9.211, p = 0.082). Regarding parental lifestyle factors, maternal active smoking exhibited a marginal protective association (OR = 0.052, 95% CI: 0.002–1.09, p = 0.057), while paternal passive smoking presented a marginally significant risk (OR = 2.309, 95% CI: 0.897–5.942, p = 0.083). Furthermore, paternal radiation exposure was associated with an elevated risk of CLP (OR = 3.489, 95% CI: 0.828–14.703, p = 0.089). These findings highlight the need for targeted public health interventions to mitigate environmental exposures and promote safer parental lifestyle behaviors in Indonesia.

Risk of self-harm ideation in mothers of children with orofacial cleft defects: the Japan environment and children's study.

Cleft lip and/or palate (CL/P), the most prevalent congenital anomaly, has been associated with higher rates of child maltreatment. In particular, the presence of cleft lip has more of an impact on external appearance and may increase the risks of negative health outcomes such as parental postpartum depression; however, this concept remains controversial. Item #10 of the Edinburgh Postpartum Depression Scale is the assessment of parental self-harm ideation, and its presence in postpartum mothers merits risk assessments as an emergent issue that may affect the health of both mothers and infants. This study focused on the impact of CL/P on maternal self-harm ideation. Of 100,300 live births from a nationwide birth cohort in Japan, 238 mothers of infants with CL/P [186 children born with cleft lip (CL ± P) and 52 born with isolated cleft palate (CP)] were included in the analyses. The prospective association of children with CL/P and maternal self-harm ideation, which were acquired using item #10 in the Edinburgh Postpartum Depression Scale at 1 and 6 months postpartum, was examined using binomial logistic regression analyses after multiple imputations and with adjustments for several maternal (age at delivery, smoking habit, and alcohol intake) and child-related (sex and prevalence of other congenital diseases) variables. The prevalence of self-harm ideation in 238 mothers of infants with CL/P at 1 and 6 months were 14.7% (35/238) and 18.8% (45/238) [8.2% (8,185/100,062) and 12.9% (12,875/100,062) in the control group], respectively. The odds ratio (95% confidence interval) for maternal self-harm ideation increased with CL/P prevalence [1.80 (1.22-2.65) and 1.47 (0.98-2.18)] at 1 and 6 months of age, respectively. After stratified by the prevalence of cleft lip, we found significant differences in the CL ± P group but not in the CP group. Furthermore, persistent self-harming ideation was associated with a higher risk in the CL ± P group [2.36 (1.43-3.89)]. CL/P, particularly cleft lip, which is more noticeable externally, was associated with an increased prevalence of maternal self-harm ideation. The findings in this study indicate some potential benefits of increasing support for mothers who have infants with CL/P.

Predictor Variables of Intraoperative Blood Loss during Cleft Palate Surgery

Study design: Cross-sectional study Objectives: To determine the predictor variables associated with blood loss during cleft palate surgery. Method: This was carried out for 12 months. Pre-operative records of each participant were taken including the age, sex, BMI, haematocrit, haemoglobin concentration, the length of the cleft defect and the width. Blood loss was determined using colorimetric method of measurement. The blood loss was calculated using the appropriate formula. Multiple regression analysis was done to determine the predictors of increased blood loss. Statistical analysis was carried out with IBM SPSS version 23.0 (2015) with statistical significance assessed at a p-value of ≤ 0.05, and a 95% confidence interval. Result: A total of 39 participants were recruited for this study, with a median age of 24 (IQR: 21–48) months. The mean length of the defects was 32.1±2.6 mm while the mean duration of surgery was 118.1±38.1 mm. The median value of the intra-operative blood loss was 40.2(IQR: 26.7–60.5). The duration of surgery and the age of the patient were the only statistically significant variables in regression analysis (p<0.0001). Conclusion: Predictor variables of increased intra-operative blood loss were the duration of surgery and the age of the patient.

Effect of “platelet rich” fibrin with bone marrow aspirate on the regenerative capacity of alveolar bone grafting with iliac bone graft: A randomized controlled trial

Objectives of the Study: (1) To evaluate the effect of platelet-rich fibrin (PRF) with bone marrow aspirate on regenerative capacity in patients undergoing iliac bone grafting for secondary alveolar bone grafting. (2) and to compare it with group 2 where only bone marrow aspirate was used along with iliac bone graft in secondary alveolar bone grafting. Materials and Methods: A prospective study on patients with cleft alveolus, requiring bone grafting and reporting to our unit from October 2018 to October 2020 was included in this study. Group 1 (bone marrow aspirate with PRF along with cancellous iliac bone graft) and Group 2 (bone marrow aspirate concentrate and cancellous Iliac bone graft without PRF). Computerized tomography (CT) scan was done to assess the volume of defect at the following intervals: Pre-op, immediate post-op, and 12 months. The outcome is assessed using a CT scan by statistical analysis. Results: Mean cleft alveolus volume measured preoperatively in group 1 was 2.5cc, post-operatively measured immediately was 3.2cc, and 12 months post-operative was 2.2cc. Mean volume defect in group 2 is 2.3cc, post-operatively measured immediately was 2.6 cc, and 12 months post-operative was 1.9cc. The average resorption rate at immediate post-op to 12 months interval in group 1 was 25% and in group 2 was 30%. The overall percentage of regenerated bone in group 1 was 75% whereas in group 2 it was 70%. Conclusion: Platelet-rich fibrin in combination with bone marrow aspirate and autogenous bone was beneficial in improving the volume of newly formed bone in the reconstruction of the cleft defect and also results in greater osteogenic effect which increases new bone regeneration and better wound healing.

"Primary anterior septoplasty in a cleft repair improves deviation of the anterior septum but not that of the posterior bone structure."

Evaluation of the result on the nasal septum (NS) of primary anterior septoplasty in cleft surgery is lacking. The deviation in patients with a cleft between those with (S+) and without (S-) primary anterior septoplasty during a cleft lip repair was compared. This was a retrospective, descriptive, single-center study. The NS was evaluated on computed tomography scans obtained pre-operatively from patients who underwent surgery for an alveolar cleft defect. Deviation of the NS was evaluated based on the following parameters: 3D configuration of the NS; anterior, middle, or posterior severity of the NS deviation; location of the most projected point; and severity index. The mean age of evaluation was 6.18 years. A total of 44 (S-) and 48 (S+) patients were included. The NS was less prominent in the (S+) than in (S-) group, 6.25% vs 25%. respectively. In the anterior part, the NS was normal in 79% (S+) and 1% (S-) of the patients. In the posterior region, the prominent deviation rate was approximately 7% in both groups. The greatest deviation point location was identical in both groups. The severity index was higher in the (S-) than in (S+) group, except in the middle part of the NS. Primary anterior septoplasty corrects only the anterior aspect of the NS in most children with CL and CLP. However, the posterior aspect of the NS remains deviated. A posterior deviation is likely to lead to nasal obstruction therefore regular monitoring is required all along the growing period.

Severe dental malocclusion in a case of repaired unilateral cleft palate managed by orthodontic mechanotherapy alone

Cleft palate is a developmental abnormality that perforates the palate, and divides the arch segments producing grave malocclusion. Crossbites, labiolingual displacements, rotations, archform distortion and incompatibility are a few facets characterizing the problem. Teeth may be congenitally missing or periodontally infirm in the vicinity of the breakdown. If the skeletal jaw base discrepancy is not major, orthognathic surgery may be omitted and orthodontic mechanics alone can suffice to manipulate the teeth into a decent occlusion. Restorative work for esthetic embellishment can enhance the overall result, particularly if teeth are malformed. This case report describes how severe dental malocclusion arising from a repaired unilateral cleft palate defect was corrected with a fixed preadjusted edgewise appliance, adorning smile esthetics and boosting the patient’s self-confidence.

Osteogenic potency of dental stem cell-composite scaffolds in an animal cleft palate model

ObjectiveTo evaluate the osteogenic potency of stem cells isolated from human exfoliated deciduous teeth (SHED) in polycaprolactone with gelatin surface modification (PCL-GE) and poly (lactic-co-glycolic acid)-bioactive glass composite (PLGA-bioactive glass (BG)) scaffolds after implantation in a rat cleft model. MethodsCleft palate-like lesions were induced in Sprague-Dawley rats by extracting the right maxillary first molars and drilling the intact alveolar bone. Rats were then divided into five groups: Control, PCL-GE, PCL-GE-SHED, PLGA-BG, and PLGA-BG-SHED, and received corresponding composite scaffolds with/without SHED at the extraction site. Tissue samples were collected at 2, 3, and 6 months post-implantation (4 rats per group). Gross and histological analyses were conducted to assess osteoid or bone formation. Immunohistochemistry for osteocalcin and human mitochondria was performed to evaluate bone components and human stem cell viability in the tissue. ResultsBone tissue formation was observed in the PCL-GE and PLGA-BG groups compared to the control, where no bone formation occurred. PLGA-BG scaffolds demonstrated greater bone regeneration potential than PCL-GE over 2–6 months. Additionally, scaffolds with SHED accelerated bone formation compared to scaffolds alone. Osteocalcin expression was detected in all rats, and positive immunoreactivity for human mitochondria was observed in the regenerated bone tissue with PCL-GE-SHED and PLGA-BG-SHED. ConclusionPCL-GE and PLGA-BG composite scaffolds effectively repaired and regenerated bone tissue in rat cleft palate defects. Moreover, scaffolds supplemented with SHED exhibited enhanced osteogenic potency. Clinical significancePCL-GE and PLGA-BG scaffolds, augmented with SHED, emerge as promising biomaterial candidates for addressing cleft repair and advancing bone tissue engineering endeavors.

A Comparative Analysis of Sector Classification and the Impacted Canine Grading System by Kumar and Daigavane in Patients With Unilateral Cleft Lip and Palate Utilizing Orthopantomogram (OPG) as a Diagnostic Tool.

Introduction Non-syndromic oral clefts, affecting one in 700 newborns in India, are the most prevalent craniofacial anomalies, with genetic or environmental causes impacting various life aspects. Studies indicate higher dental disturbances, particularly impacted canines, in cleft lip and palate (CLP) patients compared to non-cleft individuals. Impacted canines, trapped by hard tissues, require early diagnosis to prevent orthodontic issues. The widely used Ericson and Kurol method employs orthopantomograms (OPGs) to classify canine impaction in typical children. However, diagnosing canines in CLP patients is challenging due to palate defects and post-grafting complications. This study aims to compare the utility of the Kumar and Daigavane (KD) grading system and the sector classification to determine the best method for diagnosing impacted canine eruption paths. Method This cross-sectional comparative observational study was conducted at Sharad Pawar Dental College's Department of Orthodontics and Dentofacial Orthopaedics. The sample size, calculated using a significance level of 5% and a prevalence of 1%, required a minimum of 16 participants aged 9-11 years with non-syndromic clefts and impacted canines. Patients with systemic diseases or over 12 years of age were excluded. The sectoral and KD classification systems collected and evaluated OPGs from qualifying cleft patients. Sector classification considered the angle between the occlusal plane or canine tip and the adjacent tooth's long axis, while KD's classification considered the Frankfort horizontal plane, occlusal plane, vertical height from the occlusal plane, canine apex root position, and canine exposure to the cleft defect. Results The study found an 81.25% agreement between the KD grading system and the sector classification, with a Cohen's kappa value of 0.586, indicating a moderate agreement. The KD system showed 81.82% sensitivity and 80.00% specificity, with positive and negative predictive values of 90.00% and 66.67%, respectively. The receiver operating characteristic (ROC) curve analysis revealed the KD system's superior performance in identifying impacted and non-impacted canines compared to the sector classification. Conclusion The KD grading system demonstrated higher efficacy than the sector classification for evaluating the impacted canines in children with unilateral cleft lip and palate (UCLP). The KD system's high sensitivity and specificity make it a valuable tool for predicting canine eruption paths and addressing anatomical challenges in cleft conditions. This study highlights the need for accurate diagnostic tools tailored to cleft patients and contributes to advancing orthodontic treatment outcomes through improved classification systems.

Optimization of orofacial cleft imaging protocols using device-specific low-dose cone-beam computed tomography.

The aim of this study was to present optimized device-specific low-dose cone-beam computed tomography (CBCT) protocols with sufficient image quality for pre-surgical diagnostics and three-dimensional (3D) modelling of cleft defects. Six paediatric skulls were acquired, and an artificial bony cleft was created. A high-resolution CBCT scan acted as a reference standard (Accuitomo 170, Morita, Kyoto, Japan) for comparing eight low-dose protocols of Newtom VGi-evo (QR Verona, Cefla, Verona, Italy), which included Eco and Regular protocols with different field of views (FOVs). Delineation of lamina dura, cementoenamel junction (CEJ), trabecular bone and bony bridge were assessed. A 3D model of the defect was also evaluated. The dose area product of low-dose protocols ranged from 31 to 254 mGy*cm2. Despite the dose difference of up to eight times between applied protocols, trabecular bone and CEJ exhibited appropriate image quality in all scans. However, Regular small FOV protocols (5 × 5 and 8 × 5 cm2), for both lamina dura and bony bridge, demonstrated a significant improvement in image quality compared to Eco FOV counterparts. Based on 3D defect analysis, no significant difference existed between low-dose protocols and the reference standard. The findings highlight the possibility of achieving a considerable reduction (up to eight times) in the radiation dose using low-dose CBCT protocols while maintaining sufficient image quality for assessing anatomical structures and 3D modelling in cleft cases.

Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome

Orofaciodigital syndrome is a distinctive subtype of skeletal ciliopathies. Disease-causing variants in the genes encoding the CPLANE complex result in a wide variety of skeletal dysplasia with disturbed ciliary functions. The phenotypic spectrum includes orofaciodigital syndrome and short rib polydactyly syndrome. FUZ, as a part of the CPLANE complex, is involved in intraflagellar vesicular trafficking within primary cilia. Previously, the variants, c.98_111+9del and c.851G>T in FUZ were identified in two individuals with a skeletal ciliopathy, manifesting digital anomalies (polydactyly, syndactyly), orofacial cleft, short ribs and cardiac defects. Here, we present two novel variants, c.601G>A and c.625_636del in biallelic state, in two additional subjects exhibiting phenotypic overlap with the previously reported cases. Our findings underscore the association between biallelic loss of function variants in FUZ and skeletal ciliopathy akin to orofaciodigital syndrome.

Adaptable cascaded registration for personalized maxilla completion and cleft defect volume estimation.

Cone-beam computed tomography (CBCT) images provide high-resolution insights into the underlying craniofacial anomaly in patients with cleft lip and palate (CLP), requiring non-negligible annotation costs to measure the cleft defect for the guidance of the clinical secondary alveolar bone graft procedures. Considering the cumbersome volumetric image acquisition, there is a lack of paired CLP CBCTs and normal CBCTs for learning-based anatomical structure restoration models. Nowadays, the registration-based method relieves the annotation burden, though one-shot registration and the regular mask are limited to handling fine-grained shape variations and harmony between restored bony tissues and the defectedmaxilla. This study aimed to design and evaluate a novel method for deformable partial registration of the CLP CBCTs and normal CBCTs, enabling personalized maxilla completion and cleft defect volume prediction from CLPCBCTs. We proposed an adaptable deep registration framework for personalized maxilla completion and cleft defect volume prediction from CLP CBCTs. The key ingredient was a cascaded partial registration to exploit the maxillary morphology prior and attribute transfer. Cascaded registration with coarse-to-fine registration fields handled morphological variations of cleft defects and fine-grained maxillary restoration. We designed an adaptable cleft defect mask and volumetric Boolean operators for reliable voxel filling of the defected maxilla. A total of 36 clinically obtained CLP CBCTs were used to train and validate the proposed model, among which 22 CLP CBCTs were used to generate a training dataset with 440 synthetic CBCTs by B-spline deformation-based data augmentation and the remaining for testing. The proposed model was evaluated on maxilla completion and cleft defect volume prediction from clinically obtained unilateral and bilateral CLPCBCTs. Extensive experiments demonstrated the effectiveness of the adaptable cleft defect mask and the cascaded partial registration on maxilla completion and cleft defect volume prediction. The proposed method achieved state-of-the-art performances with the Dice similarity coefficient of 0.90 0.02 on the restored maxilla and 0.84 0.04 on the estimated cleft defect, respectively. The average Hausdorff distance between the estimated cleft defect and the manually annotated ground truth was 0.30 0.08 mm. The relative volume error of the cleft defect was 0.08. The proposed model allowed for the prediction of cleft defect maps that were in line with the ground truth in the challenging unilateral and bilateral CLP CBCTs. The results suggest that the proposed adaptable deep registration model enables patient-specific maxilla completion and automatic annotation of cleft defects, relieving tedious voxel-wise annotation and image acquisitionburdens.

Patterns of primary and secondary defects associated with non-syndromic cleft lip and palate: An epidemiological analysis in a Kenyan population.

Cleft lip and palate deformities substantially burden individuals and families, particularly in low-income communities. However, a comprehensive understanding of the patterns and distribution of these deformities in Kenya remains limited. This retrospective cross-sectional study analyzed 647 clinical records from the BelaRisu Foundation registry in Kenya, spanning 2018-2022. After meticulous record verification and data extraction, cleft pattern modeling was used to analyze each case. Data were imported to SPSS version 29.0 and descriptive statistics were calculated, which included means, ranges, frequencies, percentages, and standard deviations. Additionally, a comparative analysis between genders was conducted. The findings revealed a higher average age of presentation compared with previous studies in Kenya, along with a greater susceptibility of males to cleft lip and palate defects overall. Noteworthy disparities in case distribution across provinces were observed. Cleft lip emerged as the most observed primary defect, while palatal fistulae constituted the most frequent secondary defect. Interestingly, while some results aligned with global trends, others diverged significantly from the existing literature, warranting further exploration and investigation. These findings shed light on the unique patterns and distribution of cleft lip and palate deformities in Kenya, highlighting the need for targeted interventions and support systems.

Cytotoxicity Evaluation of Various Composite Resin Materials: An In Vitro Study.

Aim This study aimed to determine and comparethe cytotoxicity of light-cured composite resin (Enlight light cure composite (Ormco, Glendora, California, USA)), light-cured acrylic resin (Orthocryl LC (Dentaurum, Ispringen, Germany)), and the self-cure acrylic (DPI RR cold cure acrylic (Dental Products of India, Bombay Burmah Trading Corporation Ltd., Mumbai, India)) material and to determine which component is best to be used for the purpose of nasal stent fabrication in the nasoalveolar molding (NAM) technique for cleft therapy. Methods Circular discs made from Enlight light cure composite, Orthocryl LC, and self-cure acrylic were submerged for 24 hours in gingival fibroblast media (three discs of each material) and control medium (three discs of each material) that were both contained in plates. After analyzing the optical densities of the plates, the cytotoxicity of the products was assessed by measuring cell viability using the 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay. The compiled data was analyzed using IBM SPSS Statistics for Windows, V. 23.0 (IBM Corp., Armonk, NY). The normality of the data was evaluated using the Shapiro-Wilk test.One-way analysis of variance (ANOVA) and pairwise comparison made with Tukey's honestly significant difference (HSD) post hoc test with a significance level (p) of 0.05 were considered. Results The percentage of cell viability was between 80% and 150%. A significantmean difference was noted in the cell viability between the three groups (p=0.009). High mean cell viability was seen in Orthocryl LC. However, there was no significant mean difference between Orthocryl LC and Enlight light cure composite material (p=0.854). Conclusion Both Orthocryl LC and Enlight light cure composite materials are less cytotoxic when compared to the self-cure acrylic resin material and can be used to fabricate the nasal stent component for infants with cleft defects, undergoing NAM procedure.