Efficacy of modified anterior maxillary segmental distraction osteogenesis based on 3D visualisation for the treatment of maxillary hypoplasia among adolescents with cleft lip and palate.

BACKGROUND: This study evaluates a three-dimensional (3D) visualisation design combined with customized surgical guides to assist anterior maxillary segmental distraction osteogenesis (AMSDO) in correcting maxillary hypoplasia in adolescents with cleft lip and palate (CLP), focusing on treatment outcomes, satisfaction and the validity of 3D planning. METHODS: This retrospective cohort study was conducted at a single hospital in China. Between January 2020 and December 2023, 12 adolescents with CLP with maxillary hypoplasia were included. An advanced 3D simulation was used to convey the treatment strategy to the patients and their families. A customized surgical guide and distraction osteogenesis device were designed. Cephalometric analysis evaluated AMSDO changes and long-term stability. Patient satisfaction was assessed. The Chinese version of the Child Oral Health Impact Profile was used to evaluate the children's oral health-related quality of life before and after treatment. The postoperative outcomes were compared with the planned outcomes by superimposing the actual postoperative data onto the simulated soft tissue models and calculating the linear and angular differences between them. RESULTS: One patient experienced postoperative gingivitis, yielding an 8.33% complication rate. Most patients (83.33%) were highly satisfied with the target position, with the rest content. Cephalometric analysis showed significant improvements in various indices post-traction. Quality-of-life scores significantly improved post-treatment. The discrepancies in facial soft tissue between the simulated and actual results were within clinically satisfactory ranges. CONCLUSIONS: Digitally designed surgical guides effectively treat maxillary hypoplasia in adolescents with CLP, ensuring stability, reducing complications, reducing dependency on operator experience, and enhancing satisfaction and health outcomes. Although the simulated results were clinically acceptable, it is important to inform patients of potential variations in the predicted soft tissue.

Effects of bone anchored maxillary protraction on patients with unilateral cleft lip/palate or isolated cleft palate and hypoplastic maxilla: a 6-year follow-up case control study.

OBJECTIVES: To evaluate the effects of bone-anchored maxillary protraction (BAMP) treatment and longterm stability in growing cleft lip and palate and isolated cleft palate (CLP/CP) patients with mild maxillary hypoplasia and to compare maxillary growth patterns of BAMP-treated patients to matched control CLP/CP patients. MATERIALS AND METHODS: Ten patients with CLP/CP were treated with BAMP; they were compared to the maxillary growth pattern of 10 age-matched cleft control patients with no maxillary protraction treatment, who later received surgical Le Fort I maxillary advancement after the growth period. The assessment of maxillary growth and the occlusion started at mean 8 years of age and continued until mean 18 years of age. RESULTS: The use of BAMP orthopedic traction changed the growth pattern of mild hypoplastic maxilla toward a more anterior direction and advanced the face even above the level of Le Fort lll with only a minor effect on dentoalveolar units. The correction of occlusion and facial convexity were stable in the long term. CONCLUSIONS: The using BAMP may improve the position of the maxilla relative to the anterior cranial base for the correction of mild maxillary hypoplasia in adolescent patients with CLP/CP. The achieved results are rather stable in the long term.

Changes in the upper airway and its surrounding structures after bimaxillary surgery in patients with cleft-related Class III deformity.

OBJECTIVES: To compare upper airway changes following bimaxillary surgery for correction of Class III deformity between patients with unilateral cleft lip and palate (UCLP) and bilateral cleft lip and palate (BCLP) and to compare the preoperative and postoperative upper airway among patients with UCLP and BCLP to healthy controls. MATERIALS AND METHODS: Sixty adults with CLP-related skeletal Class III deformity (30 UCLP and 30 BCLP) who consecutively underwent bimaxillary surgery were studied retrospectively. Cone-beam computed tomography (CBCT) was performed before and after surgery to measure upper airway and movements of facial skeletal and surrounding structures. CBCT images from 30 noncleft skeletal Class I adults, matched by age, gender, and body mass index and without surgical intervention, served as controls. RESULTS: After surgery, the volume of the nasopharynx increased in patients with CLP (both P < .001). Patients with CLP did not differ from controls in postoperative volume of the nasopharynx or oropharynx. However, the nasal cavity differed significantly between patients with CLP and controls (P < .001). CONCLUSIONS: After bimaxillary surgery, the nasal cavity of patients with CLP differed significantly compared with the controls. Volumes of the nasopharynx and oropharynx did not differ between patients with CLP after surgery and controls.

Evaluation of Weight, Height, Body Mass Index, and Nutritional Status of Children With and Without Orofacial Cleft in Nigeria.

OBJECTIVE: To compare the weight, height, BMI and nutritional status of patients with and without cleft lip and/or cleft palate (CLP). DESIGN: Cross-sectional study. SETTING: Lagos University Teaching Hospital. PATIENTS, PARTICIPANTS: Patients with CLP and a control group of participants without CLP aged between 1 month and 6 years. All patients in the CLP group had not received surgical or nutritional intervention. OUTCOME MEASURES: Weight, height, BMI, their respective percentiles, and nutritional status according to the WHO 2006 growth curves of participants. RESULTS: Patients with CLP (n = 60, 21 males, 39 females, mean age: 19.1 months) had significantly lower percentile weight and height compared to those of controls (n = 60, 26 females, mean age, 23.6 months) in univariate analyses (all p < 0.01). Multivariate linear regression revealed significant interactions with age group for weight. In addition, proportions of underweight and short stature were significantly higher in the CLP group compared to the control group (all p < 0.05), and these significant differences were dependent on the age group with between-group significant differences only in age groups less than 25 months. CONCLUSIONS: Overall, patients with CLP had significantly lower weight, height, BMI and nutritional status than their unaffected peers, and these differences were dependent on age group. Significantly lower nutritional status was seen in patients with CLP up to 24 months of age, which highlights the need for early nutritional intervention in the management of CLP.

Condition of oral tissues in children with congenital cleft lip and palate.

OBJECTIVE: Aim: To study the condition of oral tissues in children with congenital complete cleft lip, alveolar process, hard and soft palate. PATIENTS AND METHODS: Materials and Methods: From the examined 470 children National Specialized Children's Hospital "OKHMATDYT" (Kyiv, Ukraine) with congenital cleft lip and palate was analyzed: 302 patients aged 8-18 years were subject to in-depth analysis for clinical and radiological - 192 with unilateral and 110 with bilateral complete cleft lip, alveolar process, hard and soft palate. RESULTS: Results: The average value of primary adention in patients with unilateral and bilateral complete combined cleft is 69.53%, but in females this indicator is higher and in unilateral cleft 92.18% for female against 53.17% for male. In females with unilateral cleft retention - 40.62% and overcomplete - 10,93%. The same high indicators in bilateral cleft: retention - 36.58% and overcomplete - 12.19%. Retention and overcomplete have higher values for men - 44.93% and 23.19%, respectively. Chewing efficiency in females with bilateral cleft as a result of primary dentition is below 80%. Affected by caries - 90.73% in both groups. Inflammatory processes in the periodontal tissues are revealed (80,75%): chronic catarrhal gingivitis, chronic hypertrophic gingivitis, chronic generalized periodontitis. Manifestations of atopic and angular cheilitis in 39.09% and 23.63% with bilateral cleft lip and palate, glossitis in 29.09%. CONCLUSION: Conclusions: Patients with congenital complete cleft lip, alveolar process, hard and soft palate have high rates of adentia, retention, overcomplete dentition and a wide range of diseases of the oral cavity, which negatively affects surgical and orthodontic rehabilitation.

Immediate Impact of a Patient-Reported Outcome Measure Visual Dashboard on Cleft lip and Palate Care Provision.

Cleft-related Patient Reported Outcome Measure (PROM) results were formatted into graphical displays for children scoring below the 25th percentile on one or more scales. Reports were piloted in a multidisciplinary clinic where providers reviewed them, and their impact was qualitatively recorded. Graphical PROM reports informed discussions, led to treatment plan changes, and raised awareness of unmet psychosocial needs. Because of the success of this quality improvement pilot, visual PROM reports will become a regular part of our multidisciplinary cleft care. More broadly, graphical PROM data display facilitates better understanding of the patient's perspective and leads to more informed visits.

The updated relationship between the cleft­lip and palate transmembrane protein­1­like rs401681 and lung cancer risk: A systematic review and meta­analysis.

Currently, the role of cleft-lip and palate transmembrane protein-1-like (CLPTM1L) rs401681 in various tumor types, particularly lung cancer, has garnered significant attention. However, the findings across studies have shown discrepancies. The aim of the present meta-analysis was to provide a more nuanced understanding of the involvement of CLPTM1L rs401681 in lung cancer development. Several electronic databases were systematically searched, including PubMed, Cochrane Library, Embase, Medline, Wanfang, Google Scholar and Chinese National Knowledge Infrastructure. Odds ratios (ORs) and 95% confidence intervals (CIs) were synthesized using random-effects models. Heterogeneity of included studies was assessed using the I2 statistic and Q test. Sensitivity analysis was conducted to evaluate the stability of overall estimates. Moreover, Egger's test was utilized to detect potential publication bias. The collective ORs indicated a significant association between the CLPTM1L rs401681 polymorphism and susceptibility to lung cancer across various genetic comparisons. These encompass allele T vs. allele C (OR=0.93, 95% CI=0.88-0.99, P<0.001), TT + CT vs. CC (OR=0.91, 95% CI=0.87-0.96, P<0.001), TT vs. CC + CT (OR=0.88, 95% CI=0.80-0.96, P<0.001), TT vs. CC (OR=0.84, 95% CI=0.75-0.94, P<0.001) and CT vs. CC (OR=0.84, 95% CI=0.75-0.94, P<0.001). Examination through statistical Q test and I2 statistic revealed pronounced heterogeneity across four genetic comparisons (allele T vs. allele C, TT + CT vs. CC, TT vs. CC and CT vs. CC). Ethnical distinctions emerged as the primary, if not exclusive, sources of the significant heterogeneity. Upon stratification by ethnicity, a notable reduction in heterogeneity was discernible within the Caucasian demographic. However, heterogeneity persisted within the Asian population. Furthermore, lung cancer risks were statistically significantly decreased for individuals possessing allele T through all genetic comparisons within Caucasians; whereas among Asians, significant reduction was observed solely in the TT vs. CC comparison. The present meta-analysis uncovers a significant association between the CLPTM1L rs401681 polymorphism and altered susceptibility to lung cancer.

Prevalence rates for ectodermal dysplasia syndromes.

BACKGROUND: Ectodermal dysplasias (EDs) are a heterogeneous group of genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. There are currently 49 recognized EDs with molecularly confirmed etiology. The EDs are very rare disorders, individually and in aggregate. Very little is published regarding the prevalence of these rare disorders. As a result of the genomics revolution, rare diseases have emerged as a global health priority. The various disabilities arising from rare disorders, as well as diagnostic and treatment uncertainty, have been demonstrated to have detrimental effects on the health, psychosocial, and economic aspects of families affected by rare disorders. Contemporary research methodologies and databases can address what have been historic challenges encountered when conducting research on rare diseases. OBJECTIVE: In this study, we aim to ascertain period prevalence rates for several of the more common ectodermal dysplasia syndromes, by querying a large multicenter database of electronic health records, Oracle Real-World Data. METHODS: For each of the included ectodermal dysplasia syndromes a clinical definition was developed by a committee of international experts with interests in EDs. The clinical definitions were based upon a combination of clinical features and designated by ICD-9 and ICD-10 codes. The January 2023 version of the Oracle Real-World Data database was queried for medical records that coincided with the clinical definitions. For our study, there were 64,523,460 individual medical records queried. RESULTS: Period prevalence rates were calculated for the following ED disorders: hypohidrotic ectodermal dysplasia, found to be 2.99 per 100,000; ectodermal dysplasia and immunodeficiency 1, 0.23 per 100,000; Clouston syndrome, 0.15 per 100,000; ectrodactyly ectodermal dysplasia and cleft lip/palate syndrome, 0.61 per 100,000; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, 0.36 per 100,000; focal dermal hypoplasia, 0.10 per 100,000; and incontinentia pigmenti, 0.88 per 100,000. CONCLUSION: This study established estimated period prevalence rates for several of the ectodermal dysplasia syndromes, and it demonstrated the feasibility of utilizing large multicenter databases of electronic health records, such as Oracle Real World Data.

Fracture patterns in cleft orthognathic surgery. a cross-sectional study.

Objective: This study aims to identify fracture patterns on the lingual aspect of the mandible following Bilateral Sagittal Osteotomy of the Mandibular Ramus and correlate these patterns with mandibular anatomical characteristics in patients with cleft lip and palate. Methods: Two hundred cone beam CT scans were analyzed, with 100 scans in the preoperative period to assess mandibular anatomy and 100 in the postoperative period to evaluate the course of fractures on the lingual surface after surgery. Results: Statistical analysis revealed no correlation between the depth of the mandibular fossa and the type of fracture after bilateral sagittal osteotomy. Similarly, there was no association between the height and angle of the mandibular body and the type of fracture. The most common fracture type observed was the type 3 pattern, characterized by a line running through the mandibular canal. Furthermore, no relationship was identified between the studied anatomical aspects and the occurrence of undesired fractures. Conclusions: The anatomical data presented in this study can assist surgeons in selecting the safest surgical techniques and optimal osteotomy sites, particularly in patients with cleft lip and palate.

Objetivo: Este estudio tiene como objetivo identificar los patrones de fractura en la superfície lingual de la mandíbula después de la osteotomía sagital bilateral de la rama mandibular y correlacionar estos patrones con las características anatómicas mandibulares en pacientes com fisura labiopalatina. Métodos: Se analizaron doscientas tomografías computarizadas de haz cónico, con cien tomografías en el período preoperatorio para evaluar la anatomía mandibular y cien en el período postoperatorio para evaluar el curso de las fracturas en la superficie lingual después de la cirugía. Resultados: El análisis estadístico no reveló correlación entre la profundidad de la fosa mandibular y el tipo de fractura después de la osteotomía sagital bilateral. Del mismo modo, no hubo asociación entre la altura y el ángulo del cuerpo mandibular y el tipo de fractura. El tipo de fractura más común observado fue el patrón tipo 3, caracterizado por una línea que atraviesa el canal mandibular. Además, no se identificó relación entre los aspectos anatómicos estudiados y la ocurrencia de fracturas no deseadas. Conclusiones: Los datos anatómicos presentados en este estudio pueden ayudar a los cirujanos a seleccionar las técnicas quirúrgicas más seguras y los sitios de osteotomía óptimos, especialmente en pacientes con fisura labiopalatina.

AI-based Cleft Lip and Palate Surgical Information is Preferred by Both Plastic Surgeons and Patients in a Blind Comparison.

INTRODUCTION: The application of artificial intelligence (AI) in healthcare has expanded in recent years, and these tools such as ChatGPT to generate patient-facing information have garnered particular interest. Online cleft lip and palate (CL/P) surgical information supplied by academic/professional (A/P) sources was therefore evaluated against ChatGPT regarding accuracy, comprehensiveness, and clarity. METHODS: 11 plastic and reconstructive surgeons and 29 non-medical individuals blindly compared responses written by ChatGPT or A/P sources to 30 frequently asked CL/P surgery questions. Surgeons indicated preference, determined accuracy, and scored comprehensiveness and clarity. Non-medical individuals indicated preference. Calculations of readability scores were determined using seven readability formulas. Statistical analysis of CL/P surgical online information was performed using paired t-tests. RESULTS: Surgeons, 60.88% of the time, blindly preferred material generated by ChatGPT over A/P sources. Additionally, surgeons consistently indicated that ChatGPT-generated material was more comprehensive and had greater clarity. No significant difference was found between ChatGPT and resources provided by professional organizations in terms of accuracy. Among individuals with no medical background, ChatGPT-generated materials were preferred 60.46% of the time. For materials from both ChatGPT and A/P sources, readability scores surpassed advised levels for patient proficiency across seven readability formulas. CONCLUSION: As the prominence of ChatGPT-based language tools rises in the healthcare space, potential applications of the tools should be assessed by experts against existing high-quality sources. Our results indicate that ChatGPT is capable of producing high-quality material in terms of accuracy, comprehensiveness, and clarity preferred by both plastic surgeons and individuals with no medical background.

Muscle reconstruction using a five-flap method with a short straight-line incision in unilateral incomplete cleft lip repair.

When performing a unilateral incomplete cleft lip repair, it is essential to create a good sub-structure of the upper lip contour, reconstruct the orbicularis oris muscle, and prevent an unwanted scar. The aim of this study was to investigate the clinical effect of muscle reconstruction using a five-flap method with a short straight-line incision in unilateral incomplete cleft lip repair. Thirty-two infants with unilateral incomplete cleft lip were treated with this method between April 2020 and February 2023. A short straight-line incision was designed along the philtral column. The orbicularis oris muscle was reconstructed with a five-flap method in three areas: nasal base area, white lip area, and red lip area. Patient outcomes were assessed through subjective evaluation and anthropometric measurements. No patient experienced any postoperative complications. The philtral column and Cupid's bow were well reconstructed. Deviation of nasal columella was corrected and the nasal floor was elevated. Functionally and aesthetically satisfactory outcomes were obtained in all patients over long-term follow-up. In conclusion, this technique was able to create a good sub-structure of the nasolabial contour and bring a significant improvement in bilateral symmetry, showing it to be an effective method for incomplete unilateral cleft lip repair with minimal scarring.

[Distribution of ABO and Rh Blood Groups in Tibetan and Han Populations With Cleft Lip and Palate in a Tertiary Hospital in Western China]. / ä¸­å›½è¥¿éƒ¨æŸä¸‰ç”²åŒ»é™¢è—æ—ä¸Žæ±‰æ—å”‡è ­è£‚æ‚£è€ ABO血型及Rhè¡€åž‹åˆ†å¸ƒç ”ç©¶.

Objective: Congenital cleft lip and palate is a common birth defect that seriously affects the lives of the afflicted children and their families. Previously, no research has been done to investigate the pathogenic characteristics of cleft lip and palate among ethnic minorities, for example, Tibetans, a minority ethnic group with a large population in China. This study aims to investigate the relationship between the occurrence of cleft lip and palate in Tibetans and Han Chinese in western China and the distribution of ABO blood groups and Rh blood groups to provide a theoretical basis for the precise prevention and treatment of cleft lip and palate. Methods: In this study, statistics on Tibetan patients with cleft lip and palate, some Han patients with cleft lip and palate, and normal controls from western China were retrospectively collected. All participants were patients from West China Stomatology Hospital, Sichuan University. All patients with cleft lip and palate received treatment at the hospital between January 2016 and September 2023. The normal controls were outpatients or inpatients who did not have cleft lip and palate, and who received treatment at the hospital between January 2020 and October 2023. Information on the A, B, O, and AB blood groups and Rh positive and negative blood groups of the patients was collected and compared with that of the normal controls. The incidence of different phenotypes, including cleft lip alone, cleft palate alone, and cleft lip with cleft palate, in patients of blood groups A, B, O and AB were statistically analyzed by Chi-square test. Results: A total of 1227 Tibetan patients with cleft lip and palate, 4064 Han patients with cleft lip and palate, and 5360 normal controls were included in the study. Among all the patients with cleft lip and palate, 1863 had cleft lip alone, 1425 had cleft palate alone, and 2003 had cleft lip with cleft palate. The ABO blood group distribution of Tibetan patients with cleft lip and palate was characterized as O>B>A>AB, with Rh positive blood group accounting for 100%, blood type O accounting for 41.15%, and blood type B accounting for 30.64%. The blood group distribution of the Han patients with cleft lip and palate was characterized as O>A>B>AB, with Rh positive blood group accounting for 99.58%, blood type O accounting for 35.78%, and type A accounting for 30.54%. There was a significant difference in ABO blood groups between Tibetan and Han patients with cleft lip and palate (P<0.005), but no significant difference in Rh blood groups. The ABO blood group distribution of the Tibetan patients with cleft lip and palate showed an obvious difference from that of the control group, while those of the Han patients with cleft lip and cleft palate and the control group did not show obvious differences. In the analysis of the subtypes, it was found that the blood group distribution in the subtypes of cleft lip alone, cleft palate alone, and cleft lip with cleft palate in the Tibetan population was O>B>A>AB, while that in the Han Chinese population was O>A>B>AB. There were differences in blood group distribution between Tibetans and Hans of the subtypes of cleft lip alone and cleft lip with cleft palate (P<0.001), but there was no difference in blood group distribution in the population of cleft palate-only subtype. The proportion of blood type O in Tibetan patients with cleft lip and palate was significantly higher than that in the Han patients with cleft lip and palate. The blood group distribution of Tibetan patients with cleft lip and palate in Sichuan Province, Xizang Autonomous Region, and Qinghai Province was always O>B>A>AB. Tibetan patients from Shiqu County and Baiyu County, Ganzi Tibetan Autonomous Prefecture and Chaya County, Qamdo City were predominantly of blood type B, and those from other regions were mainly of blood type O. Conclusion: There were significant differences in the phenotype composition and ABO blood group distribution between the Tibetan and Han populations with cleft lip and palate in western China. The distribution of blood group O in the population with cleft lip and palate was higher than that in the normal population, and the same trend was observed for different phenotypes. However, differences between Tibetan and Han populations in ABO blood group distribution were only found in the phenotypes of cleft lip only and cleft lip with palate. Tibetans with blood type O are more prone to cleft lip deformity than Han people, and the effect in the phenotype of cleft lip with palate is less pronounced than that in the phenotype of cleft lip only.

Clinical outcomes of gingivoperiosteoplasty for unilateral cleft lip and palate performed in early childhood.

Conventional gingivoperiosteoplasty (GPP) performed during infancy adversely affects maxillary development. However, the outcomes of this procedure in early childhood have rarely been reported. Therefore, we examined the postoperative outcomes of GPP conducted in patients aged 1.5 years with unilateral cleft lip and palate (UCLP). This study included 87 non-syndromic patients with complete UCLP who had undergone early two-stage palatoplasty during the 1999-2004 period. The protocol comprised soft palate plasty at 1 year of age and hard palate closure at 1.5 years of age. In the GPP group (n = 34), we introduced the GPP procedure during hard palate closure; in the non-GPP group (n = 53), the labial side of the alveolar cleft remained intact. We examined computed tomography images taken at 8 years of age to observe bone formation at the alveolar cleft site. We also conducted cephalometric analysis to examine maxillary development at 12 years of age. Bone bridges at the alveolar cleft site were observed in 92% and 5.6% of the GPP and non-GPP groups, respectively. Moreover, 56% of the GPP group did not require secondary alveolar bone grafting (sABG), whereas all the patients in the non-GPP group underwent sABG. No statistically significant differences were noted in the maxillary anteroposterior length (GPP: 45.5 ± 3.7 mm, non-GPP: 45.9 ± 3.5 mm, p = 0.67) and sella-nasion-point A angle (GPP: 75.6 ± 4.5°, non-GPP: 73.8 ± 12.6°, p = 0.49). This study's findings suggest that GPP performed at 1.5 years of age minimises the necessity of sABG and does not exert a negative influence on maxillofacial development.

An effective ultrasound fetal palate screening software based on the "sequential sector scan through the oral fissure" and three-dimensional ultrasound.

BACKGROUND: Orofacial clefts are one of the most common congenital malformations of the fetal face and ultrasound is mainly responsible for its diagnosis. It is difficult to view the fetal palate, so there is currently no unified standard for fetal palate screening, and the diagnosis of cleft palate is not included in the relevant prenatal ultrasound screening guidelines. Many prenatal diagnoses for cleft palate are missed due to the lack of effective screening methods. Therefore, it is imperative to increase the display rate of the fetal palate, which would improve the detection rate and diagnostic accuracy for cleft palate. We aim to introduce a fetal palate screening software based on the "sequential sector scan though the oral fissure", an effective method for fetal palate screening which was verified by our follow up results and three-dimensional ultrasound and to evaluate its feasibility and clinical practicability. METHODS: A software was designed and programmed based on "sequential sector scan through the oral fissure" and three-dimensional ultrasound. The three-dimensional ultrasound volume data of the fetal face were imported into the software. Then, the median sagittal plane was taken as the reference interface, the anterior upper margin of the mandibular alveolar bone was selected as the fulcrum, the interval angles, and the number of layers of the sector scan were set, after which the automatic scan was performed. Thus, the sector scan sequential planes of the mandibular alveolar bone, pharynx, soft palate, hard palate, and maxillary alveolar bone were obtained in sequence to display and evaluate the palate. In addition, the feasibility and accuracy of the software in fetal palate displaying and screening was evaluated by actual clinical cases. RESULTS: Full views of the normal fetal palates and the defective parts of the cleft palates were displayed, and relatively clear sequential tomographic images and continuous dynamic videos were formed after the three-dimensional volume data of 10 normal fetal palates and 10 cleft palates were imported into the software. CONCLUSIONS: The software can display fetal palates more directly which might allow for a new method of fetal palate screening and cleft palate diagnosis.

Peripheral giant cell granuloma in a child with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome: a case report.

BACKGROUND: Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome mainly affects ectodermal and mesodermal tissues. It is usually manifested as split hands and feet, ectodermal dysplasia, and orofacial clefting, along with other signs and symptoms. A multidisciplinary approach to treatment is required, in which dentists play an important role in identifying and treating various oral conditions that may be genetically linked to or may be the result of EEC syndrome. CASE PRESENTATION: The present case describes the oral condition of a young child suffering from EEC syndrome and presenting with peripheral giant cell granuloma (PGCG) in the mandibular anterior region. After obtaining a thorough medical and family history and a clinical examination, the lesion was surgically excised under local anesthesia. The patient was followed up at periodic intervals for the next twenty four months, during which no recurrence of the lesion was observed. CONCLUSION: This report highlights the role of a dentist in the management of the oral conditions of patients suffering from EEC syndrome.

Genetic associations and parent-of-origin effects of PVRL1 in nonsyndromic cleft lip with or without cleft palate across multiple ethnic populations.

Objectives: This study investigated the associations of PVRL1 gene variants with nonsyndromic cleft lip with or without cleft palate (NSCL/P) by evaluating transmission distortion and parent-of-origin (POO) effects in multiple ethnic populations. Methods: We conducted allelic and genotypic transmission disequilibrium tests (TDT) on 10 single-nucleotide variants (SNVs) in PVRL1 using data from 142 Korean families with an affected child. POO effects were analyzed using the POO likelihood ratio test, comparing transmission rates of maternally and paternally inherited alleles. To assess generalizability and ethnic heterogeneity, we compared results from Korean families with data from the Center for Craniofacial and Dental Genetics, which included 2,226 individuals from 497 European and 245 Asian trios. Results: TDT analysis identified significant over-transmission of the rs7940667 (G361V) C allele in Korean families (p=0.007), a finding replicated in both Asian (p=6.5×10-7) and European families (p=1.6×10-10). Eight SNVs showed strong TDT evidence in larger Asian and European datasets after multiple comparison corrections (p<0.007). Of these, 4 SNVs (rs7940667, rs7103685, rs7129848, and rs4409845) showed particularly robust association (p<5×10-8). POO analysis revealed significant maternal over-transmission of the rs10790330-A allele in Korean families (p=0.044). This finding was replicated in European families (p=9.0×10-4). Additionally, 3 other SNVs, rs7129848 (p=0.001) and the linked SNVs rs3935406 and rs10892434 (p=0.025), exhibited maternal over-transmission in the validation datasets. Conclusion: Our findings provide robust evidence supporting the associations of PVRL1 variants with NSCL/P susceptibility. Further research is necessary to explore the potential clinical applications of these findings.

Three-dimensional analysis of palatal morphology and PAS in patients with cleft lip and palate prior to orthodontic treatment.

BACKGROUND: Since many different conclusions of craniofacial anomalies and their relation to the posterior airway space coexist, this comparative clinical study investigated the palatal morphology concerning volumetric size, posterior airway space dimension and the adenoids of patients with and without a cleft before orthodontic treatment. METHODS: Three-dimensional intraoral scans and cephalometric radiographs of n = 38 patients were used for data acquisition. The patients were divided into three groups: unilateral cleft lip and palate (n = 15, 4 female, 11 male; mean age 8.57 ± 1.79 years), bilateral cleft lip and palate (n = 8, 0 female, 8 male; mean age 8.46 ± 1.37 years) and non-cleft control (n = 15, 7 female, 8 male; mean age 9.03 ± 1.02 years). The evaluation included established procedures for measurements of the palatal morphology and posterior airway space. Statistics included Shapiro-Wilk-Test and simple ANOVA (Bonferroni) for the three-dimensional intraoral scans and cephalometric radiographs. The level of significance was set at p < 0.05. RESULTS: The palatal volume and cephalometric analysis showed differences between the three groups. The palatal volume, the superior posterior face height and the depth of the bony nasopharynx of patients with cleft lip and palate were significantly smaller than for non-cleft control patients. The superior posterior face height of bilateral cleft lip and palate patients was significantly smaller than in unilateral cleft lip and palate patients (BCLP: 35.50 ± 2.08 mm; UCLP: 36.04 ± 2.95 mm; p < 0.001). The percentage of the adenoids in relation to the entire nasopharynx and the angle NL/SN were significantly bigger in patients with cleft lip and palate than in the non-cleft control. In particular, the palatal volume was 32.43% smaller in patients with unilateral cleft lip and palate and 48.69% smaller in patients with bilateral cleft lip and palate compared to the non-cleft control. CONCLUSIONS: Skeletal anomalies relate to the dimension of the posterior airway space. There were differences among the subjects with cleft lip and palate and these without a cleft. This study showed that the morphology of the palate and especially transverse deficiency of the maxilla resulting in smaller palatal volume relates to the posterior airway space. Even the adenoids seem to be affected, especially for cleft lip and palate patients.

Association of prenatal Cleft Lip and Palate ultrasound abnormalities with copy number variants at a single Chinese tertiary center.

BACKGROUD: A systematic analysis was conducted to investigate the molecular etiology of fetal cleft lip and/or palate (CL/P) and the association between various types of CL/P and copy number variations (CNVs), as well as their impact on birth outcomes. METHODS: In this retrospective study conducted between January 2016 and July 2022, a cohort of pregnancies diagnosed with fetal CL/P was enrolled and comprehensive clinical data for all cases were extracted from our medical record database, including demographic data about the pregnancies, ultrasound findings, results of Chromosomal microarray (CMA), as well as relevant pregnant and perinatal outcomes. RESULTS: Among the 358 cases, 32 clinically significant variants in 29 (8.1%) fetuses with CL/P were detected by CMA. In 338 singleton pregnancies, the diagnostic yield of CMA in the context of CL/P fetuses was determined to be 7.7% (26/338). CP cases exhibited a relatively higher prevalence of pathogenic/likely pathogenic CNVs at a rate of 25% (3/12), followed by CLP cases at 8.0% (23/288). Notably, the CL group did not demonstrate any pathogenic/likely pathogenic CNV findings among the examined cases (0/38). The diagnostic rate of clinically significant variants was notably higher in the non-isolated CL/P group than in the isolated CL/P group (11/33, 33.3% vs. 15/305, 4.9%, p < 0.001). Within the remaining 20 twin pregnancies, three clinically significant variants (15%) were observed. CONCLUSIONS: This study provides powerful evidence supporting the efficacy of CMA as a valuable tool for facilitating the prenatal genetic diagnosis of fetal CL/P. The presence of CP and CLP in fetal cases demonstrated a relatively higher incidence of pathogenic/likely pathogenic CNVs. Moreover, when these cases were accompanied by additional ultrasound abnormalities, the likelihood of identifying diagnostic CNVs significantly increased. Conversely, cases of CL alone might not be associated with positive CNVs. The present data may significantly enhance prenatal diagnosis accuracy and facilitate informed genetic counseling for cases of fetal CL/P.

Autogenous Bilateral Cleft Alveolar Bone Grafting with rhBMP-2 and Cellular Bone Matrix.

Alveolar bone grafting (ABG) in bilateral cleft lip and palate (BCLP) patients provides a reconstructive challenge. We present a novel technique of combining autologous iliac crest bone graft (ICBG) with recombinant human bone morphogenic protein 2 (rhBMP-2) and cellular bone matrix (CBM) for ABG in BCLP patients. Complete bone fill occurred in 90% of patients, with 100% having bilateral canine eruption. No patients required repeat ABG, and no significant complications were reported. The alveolar cleft gap volume significantly decreased with an improvement of 75.87%. ABG with autologous ICBG with rhBMP-2 and CBM is an effective technique for patients with BCLP.

A Sustainable Solution for Reducing Draping Waste in Cleft Surgeries.

OBJECTIVE: This study aims to reduce the waste generated from primary cleft lip and/or palate (CL/P) repair. DESIGN: A retrospective chart review examined a single surgeon's experience with CL/P repair using standard draping technique and reduced draping technique. Fisher's exact tests were performed comparing complication rates between techniques. SETTING: All procedures were conducted at a single academic medical center under the care of a board-certified pediatric plastic surgeon and fellowship-trained pediatric anesthesiologists. PATIENTS: The study included all patients ≤ 24 months of age who underwent primary CL/P repair using a reduced draping technique at the senior author's institution. An equivalent number of patients who underwent CL/P repair by the senior author immediately prior to implementation of the reduced draping technique were included for comparison. INTERVENTION: Patients undergoing CL/P repair before the change in technique were draped using the standard CL/P draping. The senior author then switched to using a reduced draping on all CL/P repairs afterwards. MAIN OUTCOME MEASURES: Weights and costs of both draping sets were obtained and differences calculated. A manual chart review was performed to assess rates of accidental intraoperative extubation, postoperative infection, fistula formation, and wound dehiscence. RESULTS: The implementation of a reduced draping technique resulted in a 530 gram weight savings and $7.49 cost savings per procedure. Fisher's exact tests revealed no statistically significant differences in complication rates except for oral mucosal dehiscence, which was lower in the reduced draping group. CONCLUSIONS: Reduced draping in CL/P repairs significantly reduces operative waste without compromising surgical outcomes.