Novel classification system for adult Asian secondary bilateral cleft lip with nasal deformity that guides surgical strategy.

BACKGROUND: Bilateral cleft lip is a congenital defect often accompanied by secondary lip and nose deformity. The current classification system for secondary cleft lip deformity has limitations in guiding surgical planning. In this article, we report a method for secondary bilateral cleft lip classification that can guide surgery on the basis of the pathological anatomy of the columellar and upper lip. METHODS: Photographs of patients were retrospectively classified into four types on the basis of the ratio of columellar height to alar base width (CH/AW) and upper lip protrusion (UP) to lower lip, as follows: type I - with CH/AW ≥ 0.2 and UP ≥ 0; type II - with CH/AW ≥ 0.2 and UP <0; type III - with CH/AW < 0.2 and UP ≥0; type IV - with CH/AW < 0.2 and UP < 0. Surgical treatments and the change of the nasal profile were documented. RESULTS: A total of 105 patients from January 2008 to December 2018 were included in this study. The nasal profile was significantly improved in type III and IV patients with postoperative CH/AW values close to normal. The upper lip was distinctively retruded in type II and IV patients before treatment, and the postoperative view revealed improved upper lip protrusion with UP values close to normal. Ninety-eight patients reported satisfactory outcomes after treatment. CONCLUSIONS: The new classification method described provides key information regarding the deformity of different types of secondary bilateral cleft lip patients and provides clear guidance for surgical planning on the basis of the anatomical defect of each type.

Evaluation of Long-Term Outcomes of Transverse Facial Cleft Repair.

OBJECTIVE: To evaluate the long-term outcomes of linear commissuroplasty and linear skin closure with a focus on commissural migration. DESIGN: Retrospective study. PATIENTS: Individuals who underwent transverse facial cleft repair at a single institution between 2004 and 2021. INTERVENTIONS: The disrupted orbicularis oris muscle was reoriented and sutured. A simple linear commissuroplasty technique was used, and the cheek skin was closed linearly without Z-plasty. MAIN OUTCOME MEASURES: The distances from Cupid's bow peak to the oral commissure were measured bilaterally, and the difference between the normal and cleft sides was obtained. Finally, its proportional value as a percentage of the total lip length was calculated from short- and long-term follow-up photographs. Cheek scarring and its effects on melolabial fold breakage were evaluated. RESULTS: Of the 18 patients who underwent transverse facial cleft repair, 12 were included in this study. The mean follow-up period based on medical photographs was 1773.5 days. The average proportional difference was 4.6%, demonstrating no observable commissural migration. There were no consistent trends in the direction of migration, either on the cleft or normal side. In patients with a transverse cleft crossing the melolabial fold, the folds appeared broken before and after the cleft repair surgery. CONCLUSIONS: No significant long-term commissural migration was observed after transverse facial cleft repair with simple linear commissuroplasty and linear skin closure. Deliberate positioning of the new oral commissure, proper myoplasty, and meticulous skin closure with minimal scar burden can be considered key procedures for successful transverse cleft repair.

Sagittal Growth Restriction of the Midface Following Isolated Cleft Lip Repair: A Systematic Review and Meta-Analysis.

Midface hypoplasia (MFH) is a long-term sequela of cleft lip and palate repair, and is poorly understood. No study has examined the aggregate data on sagittal growth restriction of the midface following repair of the lip, but not palate, in these patients.A systematic review of 3780 articles was performed. Twenty-four studies met inclusion criteria and 11 reported cephalometric measurements amenable to meta-analysis. Patients with Veau class I-III palatal clefts were included so long as they had undergone only lip repair. Groups were compared against both noncleft and unrepaired controls.Cephalometrics were reported for 326 patients (31.3% female). Noncleft controls had an average SNA angle of 81.25° ± 3.12°. The only patients demonstrating hypoplastic SNA angles were those with unilateral CLP with isolated lip repair (77.4° ± 4.22°). Patients with repaired CL had SNA angles similar to noncleft controls (81.4° ± 4.02°). Patients with unrepaired CLP and CL tended toward more protruding maxillae, with SNA angles of 83.3° ± 4.04° and 87.9° ± 3.11°, respectively. Notably, when comparing SNA angles between groups, patients with CLP with isolated lip repair had significantly more hypoplastic angles compared to those with repaired CL (P < .0001). Patients with CLP with isolated lip repair were also more hypoplastic than noncleft controls (P < .0001). In contrast, there was no significant difference between the SNA of patients with repaired CL and controls (P = .648).We found that cleft lip repair only appeared to contribute to MFH in the setting of concurrent cleft palate pathology, suggesting that scarring from lip repair itself is unlikely to be the predominant driver of MFH development. However, studies generally suffered from inadequate reporting of timing, technique, follow-up time, and cleft severity.

An Objective Evaluation of Cleft Lip Repair Deformities Based on Standardized Photographic Views.

BACKGROUND: Several assessment systems of the cleft-related facial deformity have been reported in the medical literature. Assessments have been made from direct clinical evaluations, photographs, on-screen digital images, and 3-dimensional imaging. An evaluation method based on standardized photographic views is developed to evaluate the most common postoperative deformities and to detect the responsible factors for occurrence of these deformities and how to avoid them. MATERIALS AND METHODS: One hundred forty-five cleft lip cases (105 unilateral and 40 bilateral) were evaluated by using standard sheet and scoring system designed by Operation Smile Inc (Virginia Beach). The scoring system is based on photographic analysis of items including Cupid's bow, nasal symmetry, vermilion contour, white roll continuity, and scar quality. RESULTS: In the unilateral cleft cases, we found 0.4% excellent, 48.57% good, 38% fair, and 2.85% poor cases. For bilateral clef lip cases, we found 27.5% excellent, 47.5% good, 17.5% fair, and 7.5% poor outcomes. The most common postoperative deformities were nasal asymmetry, scar hypertrophy, deformed Cupid's bow, and vermilion contour asymmetry. CONCLUSIONS: This objective evaluation system can determine the common cleft lip nasal deformities with detection of the responsible factors. Principles that guide optimum surgical repair have been advocated to avoid the common postoperative deformities. Scar formation is an independent factor that must be managed early and separately to maintain surgical outcomes.

Molecular Modeling Analysis Provides Genotype-Phenotype Correlation Insights in a Patient with Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome.

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare autosomal dominant disorder. AEC is caused by mutations in the TP63 gene that encodes the tumor suppressor p63 protein, itself involved in the regulation of epidermal proliferation, development, and differentiation. We present here a typical AEC case of a four-year-old girl with extensive skin erosions and erythroderma of the scalp and the trunk, and to a lesser extent of the limbs, nail dystrophy on the fingers and toes, xerophthalmia, a high-arched palate, oligodontia, and hypohidrosis. Mutation analysis of the TP63 gene detected a de novo missense mutation in exon 14 (c.1799G>T; p.Gly600Val). We discuss the phenotype-genotype correlation by presenting the clinical features of AEC in the patient, and the effect of the detected mutation in p63 structure and function using protein structural modeling, in view of similar cases in the literature. We performed a molecular modeling study in order to link the effect on the protein structure level of the missense mutation G600V. We noted that the introduction of the bulkier Valine residue in place of the slim Glycine residue caused a significantly altered 3D conformational arrangement of that protein region, pushing away the adjacent antiparallel α helix. We propose that the introduced locally altered structure of the G600V mutant p63 has a significant functional effect on specific protein-protein interactions, thus affecting the clinical phenotype.

Repair of Scars and Tissue Deficiency With Free Grafts of Full-thickness Scalp in Secondary Unilateral Cleft Lip Deformity.

Although surgical techniques have developed, the incidence of secondary cleft lip deformities after the primary repair is still high. Asymmetry of Cupid's bow and philtrum is a common presentation and a technical challenge to reconstruct the upper lip. The authors introduce a technique to use the free grafts of the full-thickness scalp for the correction of scars and tissue deficiency in secondary unilateral cleft lip deformity. Thirty-seven patients with a prominent scar, tight upper lip, deformed Cupid's bow and philtrum, and irregular vermillion border were included in this study. The specific points of interest were assessed before and after surgery by independent examiners with both subjective and objective methods. All surgeries were successfully completed, and the assessment results were satisfactory. The rating scores of philtrum improvement was 1.6±0.4, the POSAS result of patient scales was 13.48±3.21, and the observer scale result was 11.98±3.88. The asymmetry of Cupid's bow was corrected ( P =0.004), the central tubercle of vermilion was more natural ( P =0.001), and the irregular vermillion border was improved ( P =0.015). The results presented significant differences before and after surgery. This method could be an optional treatment for repairing scars and tissue deficiency in secondary unilateral cleft lip deformity.

Characterizing the microbiota of cleft lip and palate patients: a comprehensive review.

Orofacial cleft disorders, including cleft lip and/or palate (CL/P), are one of the most frequently-occurring congenital disorders worldwide. The health issues of patients with CL/P encompass far more than just their anatomic anomaly, as patients with CL/P are prone to having a high incidence of infectious diseases. While it has been previously established that the oral microbiome of patients with CL/P differs from that of unaffected patients, the exact nature of this variance, including the relevant bacterial species, has not been fully elucidated; likewise, examination of anatomic locations besides the cleft site has been neglected. Here, we intended to provide a comprehensive review to highlight the significant microbiota differences between CL/P patients and healthy subjects in various anatomic locations, including the teeth inside and adjacent to the cleft, oral cavity, nasal cavity, pharynx, and ear, as well as bodily fluids, secretions, and excretions. A number of bacterial and fungal species that have been proven to be pathogenic were found to be prevalently and/or specifically detected in CL/P patients, which can benefit the development of CL/P-specific microbiota management strategies.

Investigación en fisuras faciales: quo vadis España? / Investigation in facial fissures: quo vadis Spain?

Las fisuras orofaciales representan un grupo heterogéneo de malformaciones congénitas que afectan a distintas estructuras de la cavidad oral y de la cara. Globalmente, los bebés con estos trastornos presentan una mayor morbilidad y mortalidad a lo largo de su vida en comparación con individuos no afectados. Por ello, los avances en la investigación biomédica resultan ineludibles. Así, el objetivo general de este trabajo fue llevar a cabo una revisión bibliográfica para analizar narrativamente los 10 principales estudios primarios sobre fisuras orofaciales llevados a cabo en España, publicados del 2018 hasta la actualidad. Según esto, a nivel institucional, destaca la Universidad Complutense de Madrid (UCM) con cuatro artículos publicados por el grupo de investigación UCM 920202. También sobresale la Universidad Rey Juan Carlos de Madrid, con tres artículos relacionados con diferentes aspectos de la personalidad y la calidad de vida de los pacientes fisurados, así como otras muchas variables cognitivo-emocionales. En relación con la Universidad de Valencia, encontramos dos artículos llevados a cabo en amplias muestras de pacientes con fisuras. Por último, en Barcelona resulta destacable un estudio observacional sobre problemas otorrinolaringológicos en pacientes operados de fisura palatina. En conclusión, si bien en los últimos años se han publicado varios artículos sobre distintos aspectos relacionados con las fisuras, aún queda mucho trabajo por hacer. España debería seguir potenciando proyectos con líneas de trabajo centradas en estas alteraciones del desarrollo craneofacial. Se necesitan estudios amplios, multicéntricos y colaborativos, para ahondar en los mecanismos etiológicos y, en última instancia, en las posibles herramientas para su prevención. Del mismo modo, se necesitan ayudas para dilucidar mejor las cuestiones relacionadas con los tratamientos en todas las dimensiones de la salud, preferentemente a partir de ensayos clínicos controlados aleatorizados, que faciliten la traslación de conocimientos y su accesibilidad universal dentro del sistema sanitario público español.

SUMMARY: Orofacial clefts represent a heterogeneous group of congenital malformations affecting different structures of the oral cavity and face. Overall, infants with these disorders have a higher lifetime morbidity and mortality compared to unaffected individuals. Therefore, advances in biomedical research are unavoidable. Thus, the overall objective of this work was to conduct a literature review to narratively analyse the 10 main primary studies on orofacial clefts carried out in Spain, published from 2018 to date. According to this review, at an institutional level, the Complutense University of Madrid (UCM) is notable with 4 articles published by the UCM 920202 research group. The Rey Juan Carlos University of Madrid also stands out, with three papers related to different aspects of the personality and quality of life of cleft patients, as well as many other cognitive-emotional variables. In relation to the University of Valencia, we found two studies carried out on large samples of cleft patients. Finally, in Barcelona, an observational study on otorhinolaryngological problems in cleft palate patients is noteworthy. In conclusion, although several studies have been published in recent years on different aspects related to clefts, there is still much work to be done. Spain should craniofacial development. Large, multicenter and collaborative studies are needed to delve deeper into the aetiological mechanisms and, ultimately, into the possible tools for their prevention. Similarly, support is needed to better elucidate questions related to treatments in all dimensions of health, preferably randomised controlled clinical trials, which facilitate the transfer of knowledge and its universal accessibility within the Spanish public health system.

Seeing Cleft Lip from a New Angle: Crowdsourcing to Determine whether Scar Severity or Lip Angle Matters More to the General Public.

BACKGROUND: Modern cleft lip surgery aims to restore symmetry and create a level, normal-appearing Cupid's bow. However, families' concerns often center on the degree of scarring. The authors hypothesized that the lip angle would be less influential than scar severity in layperson ratings. METHODS: The authors received institutional review board approval for modifying patients' postoperative photographs to create systematic variations displaying different levels of scarring and lip angle. Each child's resulting composite images were presented in pairs to internet raters using Amazon Mechanical Turk. Users selected the simulated postoperative result they felt to be most normal. The Bradley-Terry model was used to determine raters' preferences between different levels of scarring and lip angle. RESULTS: Four children with primary unilateral cleft lip repair had their postoperative photographs modified (mean age, 1.4 years; mean follow-up, 1.0 years). Twelve-hundred crowdsourced pairwise ratings were collected for each patient (4800 combined ratings). For all four children, raters preferred images with more severe scarring than those with a greater lip angle, suggesting uneven lip angle has a more negative effect on perceived appearance. CONCLUSIONS: Online crowdsourcing postoperative lip angle had a significantly greater influence on ratings of normal appearance than does the severity of scarring. Although patients may ask about scars more often, clinically, this study suggests perceptions of a cleft lip repair result may be more likely influenced by the angle of the cleft lip repair.

Repair of Protruding Bilateral Cleft Lip and Palate With Staged Premaxilla Setback Osteotomy, Cheiloplasty, and Palatoplasty in Trisomy 17p Patient: A Review of Syndromic Clinical Characteristic.

Chromosome 17 duplication is correlated with an increased risk of developmental delay, birth defects, and intellectual disability. Here, we reported a female patient with trisomy 17 on the whole short arm with bilateral complete cleft lip and palate (BCLP). This study will review the surgical strategies to reconstruct the protruding premaxillary segment, cleft lip, and palate in trisomy 17p patient.The patient had heterozygous pathogenic duplication of chromosomal region chr17:526-18777088 on almost the entire short arm of chromosome 17. Beside the commonly found features of trisomy 17p, the patient also presented with BCLP with a prominent premaxillary portion. Premaxillary setback surgery was first performed concomitantly with cheiloplasty. The ostectomy was performed posterior to the vomero-premaxillary suture (VPS). The premaxilla was firmly adhered to the lateral segment and the viability of philtral flap was not compromised. Two-flap palatoplasty with modified intravelar veloplasty (IVV) was performed 4 months after.Successful positioning of the premaxilla segment, satisfactory lip aesthetics, and vital palatal flap was obtained from premaxillary setback, primary cheiloplasty, and subsequent palatoplasty in our trisomy 17p patient presenting with BLCP. Postoperative premaxillary stability and patency of the philtral and palatal flap were achieved. Longer follow-up is needed to evaluate the long-term effects of our surgical techniques on inhibition of midfacial growth. However, the benefits that the patient received from the surgery in improving feeding capacity and facial appearance early in life outweigh the cost of possible maxillary retrusion.

Pleomorphic Adenoma of the Palate: A Rare Case in an Adolescent With Cleft lip and Palate.

Benign salivary gland tumors are rarely found in children and adolescents compared with adults. Pleomorphic adenomas (PAs), the most common benign salivary gland tumor, account for only 1% of all head and neck lesions and fewer than 5% of all salivary gland tumors in individuals under the age of 16 years. The data on palatal PA in the first 2 decades of life is confined to published case reports and case series. To date, there has never been a report of palatal PA in a patient with cleft lip and palate. Here we describe an adolescent female with bilateral cleft lip and palate with PA of the hard and soft palate who underwent wide local excision and reconstruction with a buccal fat pad and buccal myo-mucosal flap.

Periodontal changes following distraction osteogenesis in patients with cleft lip and palate: a clinical trial.

OBJECTIVES: To evaluate inflammatory mediator levels and periodontal changes following distraction osteogenesis (DO) in patients with cleft lip and palate (CLP) using mid-maxillary distraction (MMD). MATERIALS AND METHODS: A total of 20 healthy patients with CLP with Class III malocclusion were included. Segmental forward advancement of the anterior maxilla from the second premolars on both sides using DO was performed. A custom-made, tooth-borne distractor connecting buccal molar segments to the anterior maxilla was used for 7 days with 0.5-mm distraction for the first 2 days and then increased to 1 mm daily until overcorrection. Crevicular interleukin IL-1ß and tumor necrosis factor TNF-α levels were measured during distraction. Periodontal clinical parameters and indices were recorded at baseline and 3 and 6 months postoperatively. Soft tissue healing was evaluated histologically at 2 and 4 weeks after distraction. RESULTS: The periodontal parameters remained stable during the follow-up periods. Insignificant increases in the level of inflammatory cytokines compared with the control were observed. Histological findings revealed mild inflammatory and structural changes in the gingiva immediately after distraction, whereas regeneration was noticed after 4 weeks. CONCLUSIONS: MMD was an effective technique in treating patients with CLP, leading to new bone and soft tissue formation without significant detrimental effect on the periodontium of the adjacent teeth.

Histologic characterization of orbicularis oris muscle with a new acellular dermal matrix grafts in a rabbit model.

Muscular dysplasia is the key factor in influencing surgical outcomes in patients with cleft lip/palate. In this research, we attempted to evaluate a new acellular dermal matrix (ADM) as a substitute for reconstruction of the orbicularis oris muscle with growth factors such as Insulin-Like Growth Factor I (IGF-I), vascular endothelial growth factor (VEGF) in a rabbit model. 30 male New Zealand Rabbits (2-3 m, 1700-2000 g) were divided into four groups as follows; a group in which the orbicularis oris muscle of the upper lip was implanted with ADM, a group in which the orbicularis oris muscle of the upper lip was implanted with ADM + IGF-I + VEGF, a group in which the upper lip was operated without implantation of an ADM scaffold, and a normal upper lip for comparison. Macroscopic observation, histological evaluation, and immunohistochemistry were employed to evaluate levels of the muscle regeneration, vascularization, and inflammation at 1, 2, 4, 6, and 12 weeks after the operation. All wounds healed well without infection, immune rejection and so on. Histological evaluation showed that ADM was totally degraded and replaced by connective tissue. The area in which the ADM scaffold was coated with growth factors show a significant increase in the formation of new myofibers after injury, and the vascularization improved compared to the control group and the normal group. In regard to the degrees of inflammation, there were no notable differences among the groups. In conclusion, Our study indicated that ADM grafts combined with IGF-I and VEGF have potential advantages in alleviating muscular dysplasia in cleft lip treatment.

Suppression of microRNA 124-3p and microRNA 340-5p ameliorates retinoic acid-induced cleft palate in mice.

The etiology of cleft lip with or without cleft palate (CL/P), a common congenital birth defect, is complex, with genetic and epigenetic, as well as environmental, contributing factors. Recent studies suggest that fetal development is affected by maternal conditions through microRNAs (miRNAs), a group of short noncoding RNAs. Here, we show that miR-129-5p and miR-340-5p suppress cell proliferation in both primary mouse embryonic palatal mesenchymal cells and O9-1 cells, a neural crest cell line, through the regulation of Sox5 and Trp53 by miR-129-5p, and the regulation of Chd7, Fign and Tgfbr1 by miR-340-5p. Notably, miR-340-5p, but not miR-129-5p, was upregulated following all-trans retinoic acid (atRA; tretinoin) administration, and a miR-340-5p inhibitor rescued the cleft palate (CP) phenotype in 47% of atRA-induced CP mice. We have previously reported that a miR-124-3p inhibitor can also partially rescue the CP phenotype in atRA-induced CP mouse model. In this study, we found that a cocktail of miR-124-3p and miR-340-5p inhibitors rescued atRA-induced CP with almost complete penetrance. Taken together, our results suggest that normalization of pathological miRNA expression can be a preventive intervention for CP.

Comparison of Presurgical Anthropometric Measures of Right and Left Complete Unilateral Cleft Lip and/or Palate.

BACKGROUND: Left clefts occur twice as frequently as right ones. The sidedness has been suggested to influence certain outcomes. Some surgeons consider a right cleft more challenging to repair. This is often attributed to their reduced prevalence. The authors question whether this may be caused by morphologic differences. The authors' hypothesis is that there are anthropometric differences between left and right complete cleft lips. METHODS: Patients with complete unilateral cleft lip, with or without cleft palate, operated on at the age of 3 to 6 months, between 2000 and 2018, by a single surgeon, were included. Eight standardized anthropometric measurements of the cleft lip, collected just before cleft lip repair, compare lip and vermillion dimensions and ratios between left and right clefts. RESULTS: One hundred thirty-nine left and 80 right unilateral cleft lips were compared. A significant difference was found between left and right clefts for cleft-side to non-cleft-side ratios comparing the lateral lip element vertical heights and vermillion heights. CONCLUSIONS: Patients with right cleft lips have a greater degree of lateral lip element hypoplasia, demonstrating greater deficiencies of lateral lip element vertical height and vermillion height when compared to patients with left clefts. This has clinical implications for preoperative assessment, choice of surgical technique, and postoperative and long-term outcomes.

What is the Role of Midfacial Sutures in the Development of Maxillary Hypoplasia in Children With Cleft Palate?

ABSTRACT: Maxillary hypoplasia is common in patients with cleft lip and palate (CL/P), and its etiology is incompletely understood. The purpose of this study is to evaluate facial suture patency in patients with CL/P and maxillary hypoplasia. The authors hypothesize that patients with CL/P will demonstrate higher rates of premature midfacial suture fusion in comparison to unaffected controls. Skeletally mature patients with CL/P and midface hypoplasia were identified, along with a cohort of unaffected age- and sex-matched controls. High-resolution facial computed tomography scans were evaluated for the presence of facial suture fusion. Utilizing a previously published suture fusion grading scale, the facial sutures were classified as open, partially open, closed, or pathologically absent. Thirty-one CL/P patients with midface hypoplasia were identified, with age and sex-matched controls. The frequency of intermaxillary suture fusion did not differ between patients with CL/P and unaffected controls (P  > 0.05.) Pathologic absence of the midpalatal suture was more commonly present in patients with CL/ P and midface hypoplasia in comparison to unaffected controls (P < 0.05.) The role of midfacial sutures in the development of midfacial hypoplasia seen in CLP has not previously been studied or described. Our data show that the midpalatal suture is frequently pathologically absent in patients with CL/P and maxillary hypoplasia. The authors did not identify statistically significant differences in other midfacial sutures between patients with CL/P and controls, leading us to conclude that midfacial sutures may not play a key role in the development of midfacial hypoplasia.

Qualitative Assessment of Surgical Repair of Three Types of Unilateral Cleft Lip

Abstract Objective: To assess the effect of the three types of unilateral cleft lip (UCL) [cleft lip only, cleft lip and alveolus, and cleft lip alveolus and palate] on the outcome of the repair. Material and Methods: This study was a case series of effect of types of UCL on the outcome of the repair. Fifteen subjects each were in three UCL phenotypes groups. Evaluation of the scar, lip, and nose was done qualitatively by both parents/guardians and professionals using a modified form of the criteria described by Christofides et al. (2006). Results: In the assessment of the surgical scar, the parents found a difference between the three types of cleft in terms of texture, shape, and width of the scar and presence of columella deviation. The professional assessors, however, only found the three types of cleft to be different in the presence of alar flattening. Conclusion: Differences truly exist in the outcome of surgical repair of the three types of unilateral cleft lip, especially in the aesthetics of the nose and in the width and shape of the residual lip scar. Thus, it is important to consider this in the assessment of UCL repair because putting the subtypes together might have a negative impact on the assessment.

A nationwide cohort study on growth impairment by cleft lip with or without palate.

There are very few nationwide studies discussing the height, weight, head circumference, and dental screening of children with cleft lip with or without palate (CL/P), with most reports on this subject based on a 1900s cohort. This study aimed to characterize CL/P children in the 2000s in terms of height, weight, head circumference, and dental screening. This nationwide population-based study evaluated the National Health Insurance Service-Infants and Children's Health Screening (NHIS-INCHS), specifically the height, weight, and head circumference of millions of children. Dental screening data, including the status of each tooth and comprehensive dental judgment, were also evaluated. Syndromic and nonsyndromic CL/P children had lower height, weight, and head circumference than no CL/P children until the age of 66-71 months. Children with cleft palate only or both cleft lip and palate showed similar results. Regarding dental screening, the primary teeth of CL/P children erupted later and fell out faster than no CL/P children. Dental caries was also more common in CL/P children. Children with CL/P had inferior general growth, regardless of palatoplasty surgery. More aggressive dental treatment was required for CL/P children due to the instability of primary teeth and tendency for caries.

Use of collaborative learning as atool to evaluate syndromic craniofacial anomalies / Uso da aprendizagem colaborativa como ferramenta para avaliar anomalias craniofaciais sindrômicas

Almost 30% of oral cleftsare associated with other structural abnormalities.However, little is known on orofacial characteristics related tothese cases since they are not systematically reported. To close this gap, we developed a collaborative learning approach supported by an interprofessional team aiming to systematicallydescribe oral findings and impactthe training of future professionals that hopefully will incorporate these descriptionsintotheir clinical practice. The methodological proposal consisted of small group sessions focusing on a particular syndrome or group of syndromes followed by examiningpatients with those conditions. Twenty cases were examined and studied over one semester andaset of conditions to be identified in the orofacial regionwasdefined. Here, we present a guideline that we suggest that dentists and dental institutions use. We also present the advantages of using collaborative learning as a tool in the training of the clinician (AU).

Quase 30% das fissuras orais estão associadas a outras anormalidades estruturais. No entanto, pouco se sabe sobre as características orofaciais relacionadas a esses casos, uma vez que não são relatados de forma sistemática. Para fechar essa lacuna, desenvolvemos uma abordagem de aprendizagem colaborativa apoiada por uma equipe interprofissional com o objetivo de descrever sistematicamente os achados orais e impactar o treinamento de futuros profissionais que, esperançosamente, irão incorporar essas descrições em sua prática clínica. A proposta metodológica consistia em sessões de pequenos grupos enfocando uma determinada síndrome ou grupo de síndromes seguidas de exame de pacientes com essas condições. Vinte casos foram examinados e estudados ao longo de um semestre e foi definido um conjunto de condições a serem identificadas na região orofacial. Aqui, apresentamos uma diretriz que sugerimos que os dentistas e instituições odontológicas utilizem. Também apresentamos as vantagens de usar a aprendizagem colaborativa como uma ferramenta no treinamento do clínico (AU).

Preimplantation genetic diagnosis for a carrier with m.3697G > A mitochondrial DNA mutation.

OBJECTIVE: To explore inheritance of the m.3697G > A mitochondrial DNA (mtDNA) mutation and the effectiveness of preimplantation genetic diagnosis (PGD) for the carrier. METHODS: The study encompassed a pedigree of m.3697G > A mtDNA mutation, including one asymptomatic patient who pursued for PGD treatment. Twelve cumulus oocyte complexes (COCs) were collected in the first PGD cycle and 11 COCs in the second cycle. The efficiency of cumulus cells, polar bodies, and trophectoderm (TE) in predicting the m.3697G > A heteroplasmy of embryos was analyzed. RESULTS: From 23 COCs, 20 oocytes were fertilized successfully. On day 5 and 6 post-fertilization, 15 blastocysts were biopsied. The m.3697G > A mutation load of TE biopsies ranged from 15.2 to 100%. In the first cycle, a blastocyst with mutation load of 31.7% and chromosomal mosaicism was transferred, but failed to yield a clinical pregnancy. In the second cycle, a euploid blastocyst with mutation load of 53.9% was transferred, which gave rise to a clinical pregnancy. However, the pregnancy was terminated due to fetal cleft lip and palate. The mutation loads of different tissues (47.7 ± 1.8%) from the induced fetus were comparable to that of the biopsied TE and amniotic fluid cell (49.7%). The mutation load of neither cumulus cells (R2 = 0.02, p = 0.58) nor polar bodies (R2 = 0.33, p = 0.13) correlated with TE mutation load which was regarded as a gold standard. CONCLUSIONS: The m.3697G > A mutation showed a random pattern of inheritance. PGD could be used to reduce the risk of inheritance of a high mutation load. Cumulus cells are not a suitable predictor of blastocyst mutation load.