Reducing delayed detection of isolated cleft palate-related deformity: a call for routine intraoral examination of newborns

Abstract Objective: To provide healthcare professional-friendly practical recommendations for early detection of cleft palate-related deformities in newborns and offer an overview of managing these high-prevalent congenital abnormalities. Source of data: PubMed, SciELO, Lilacs, Cochrane, ScienceDirect, and Scopus databases were reviewed for cleft- and diagnosis-related studies. Summary of the findings: Unfortunately, the global prevalence of delayed detection of cleft palate-related deformities remains unacceptably high, with over a quarter of cleft palates missed at birth. This delayed identification causes physical and psychological distress for patients and families, including feeding challenges and weight faltering. To improve cleft management, it is essential to adopt routine detailed, in-depth intraoral examination immediately after birth. It is recommended not only to finger-assisted palpate the intraoral structures but also to visually inspect the oral cavity from gingiva to uvula using a wooden tongue depressor and light-assisted examination. With timely diagnosis and referral to specialized care, pediatricians, nurses, speech therapists, and plastic surgeons provide life-changing treatments, including health care maintenance, anticipatory guidance, feeding support, primary surgical reconstruction, and age-and condition-specific protocols. Conclusions: Encouraging neonatologists and pediatricians, who are the first to examine new-borns, to actively investigate the intraoral region for cleft palate-related deformities is instrumental in optimizing therapeutic approaches and prioritizing age-phases in treatment. Their crucial role in early detection and referral can lead to transformative outcomes, impacting not only the future of the newborns by facilitating functional integration into society but also yielding positive effects on families and the health system.

Prevalência de fissuras labiopalatais no Brasil e sua notificação no sistema de informação / Prevalence of cleft lip and palate in Brazil and its notification in the information system

Introdução: A fissura labiopalatina é a deformidade congênita mais comum, com uma incidência de 1,53/1000 nascidos vivos e o tratamento predominantemente realizado no Sistema Único de Saúde (SUS). Em 1999, o Sistema de Informações sobre Nascidos Vivos (SINASC) implantou a lacuna para preenchimento referente a deformidade congênita. Trabalhos vêm demostrando a subnotificação importante da fissura no SINASC. Método: Foi levantado o número de crianças nascidas por ano no Brasil entre 2012 e 2018 nas respectivas regiões, projetando o número de fissurados nascidos por ano usando a proporção 1,53/1000 nascidos vivos. A partir destes dados, observado o número de fissurados notificados no sistema SUS e comparado com a projeção feita observando uma estimativa de notificação por região. Verificada também a evolução dos gastos governamentais por região com cirurgia de fissura labiopalatina no período de 2012 a 2018. Resultados: Houve uma notificação de 54,1% a 36,7% das crianças nascidas com fissura, sendo a Região Sudeste com melhor índice e o Nordeste com o índice mais baixo de notificação. Os gastos federais em cirurgia de fissura labiopalatina diminuíram entre 2012 e 2018, frente ao número de nascimentos com fissuras, que se manteve estável neste período. Conclusão: Apesar do SINASC ser uma ferramenta importante, as subnotificações expressivas desta afecção impactam nas políticas públicas, pois utilizam dados inconsistentes com a realidade. Outra preocupação é a diminuição dos gastos federais com cirurgias de fissurados, o que demostra que mais crianças estão deixando de receber tratamento adequado.

Introduction: Cleft lip and palate is the most common congenital deformity, with an incidence of 1.53/1000 live births, and treatment is predominantly carried out in the Unified Health System (Sistema Único de Saúde SUS). In 1999, the Live Birth Information System (Sistema de Informações sobre Nascidos Vivos SINASC) implemented the gap to be filled in regarding congenital deformities. Studies have demonstrated the significant underreporting of the fissure in SINASC. Method: The number of children born per year in Brazil between 2012 and 2018 was surveyed in the respective regions, projecting the number of cleft children born per year using the proportion 1.53/1000 live births. From these data, the number of cleft patients notified in the SUS system was observed and compared with the projection made by observing an estimate of notification by region. The evolution of government spending by region on cleft lip and palate surgery in the period from 2012 to 2018 was also verified. Results: There was a notification of 54.1% to 36.7% of children born with cleft, with the Southeast Region having the best rate and the Northeast with the lowest notification rate. Federal spending on cleft lip and palate surgery decreased between 2012 and 2018, compared to the number of births with clefts, which remained stable during this period. Conclusion: Although SINASC is an important tool, the significant underreporting of this condition impacts public policies, as it uses data inconsistent with reality. Another concern is the decrease in federal spending on cleft surgery, which shows that more children are failing to receive adequate treatment.

Incidência de complicações durante os anos iniciais de formação de um serviço de fissuras labiopalatinas / Incidence of complications during the initial years of formation of a cleft lip and palate service

Introdução: A fissura labiopalatina é a malformação congênita craniofacial mais comum. Dificuldades na alimentação, fala e audição são comuns nestes pacientes, necessitando de tratamento multidisciplinar, o que dificulta a criação e manutenção de serviços especializados. A diversidade de classificações e o grande número de técnicas cirúrgicas utilizadas nas cirurgias primárias (queiloplastia e palatoplastia) dificultam a comparação de dados epidemiológicos e de complicações entre os serviços, existindo carência de estudos avaliando centros especializados em fissuras labiopalatinas recém-criados. Método: Foi realizado estudo do tipo coorte prospectiva com pacientes com diagnóstico de fissura labiopalatina submetidos a procedimentos cirúrgicos primários, no Hospital de Clínicas da Universidade Federal de Uberlândia, entre julho de 2017 e fevereiro de 2023. Foram incluídos pacientes menores de 18 anos com acompanhamento pós-operatório de pelo menos 3 meses. Resultados: Participaram do estudo 79 pacientes, que foram submetidos a 115 cirurgias primárias (54 queiloplastias e 61 palatoplastias). Foram relatadas 11 complicações neste período: 2 deiscências em queiloplastia (3,70%), 1 cicatriz hipertrófica em queiloplastia (1,85%), 6 fístulas em palatoplastia (9,83%) e 2 deiscências em palatoplastia (3,28%). A incidência de complicações foi de 9,56% quando analisado o total de cirurgias, sendo 5,55% nos pacientes submetidos a queiloplastia e 13,11% nos pacientes submetidos a palatoplastia. Conclusão: A incidência de complicações durante os anos iniciais de estruturação do serviço foi semelhante a outros estudos da literatura.

Introduction: Cleft lip and palate is the most common congenital craniofacial malformation. Difficulties in eating, speaking, and hearing are common in these patients, requiring multidisciplinary treatment, which makes it difficult to create and maintain specialized services. The diversity of classifications and the large number of surgical techniques used in primary surgeries (cheiloplasty and palatoplasty) make it difficult to compare epidemiological data and complications between services, and there is a lack of studies evaluating newly created specialized centers for cleft lip and palate. Method: A prospective cohort study was carried out with patients diagnosed with cleft lip and palate who underwent primary surgical procedures at the Hospital de Clínicas of the Universidade Federal de Uberlândia, between July 2017 and February 2023. Patients under 18 years of age with follow-up were included. post-operative period of at least 3 months. Results: 79 patients participated in the study, who underwent 115 primary surgeries (54 cheiloplasties and 61 palatoplasties). 11 complications were reported in this period: 2 dehiscences in cheiloplasty (3.70%), 1 hypertrophic scar in cheiloplasty (1.85%), 6 fistulas in palatoplasty (9.83%) and 2 dehiscences in palatoplasty (3.28%). The incidence of complications was 9.56% when analyzing the total number of surgeries, being 5.55% in patients undergoing cheiloplasty and 13.11% in patients undergoing palatoplasty. Conclusion: The incidence of complications during the initial years of structuring the service was similar to other studies in the literature.

Calidad de vida y factores condicionantes en personas con Labio Fisurado y Paladar Hendido No Sindrómico (LPHNs): experiencias de familiares, pacientes, y personal de salud / Quality of life and conditioning factors in people with Non-syndromic Cleft Lip and Palate (NSCLP): experiences of family members, patients, and health personnel

Objetivo: comprender las percepciones sobre calidad de vida (CV) y sus factores condicionantes en personas con Labio Fisurado y Paladar Hendido No Sindrómico (LPHNs), desde la experiencia de las personas con esta condición, y desde sus familias y equipo de salud. Métodos: estudio cualitativo con perspectiva fenomenológica. Se realizaron entrevistas semiestructuradas a seis individuos que cumplían los criterios de participación (4 mujeres) y seis familiares (esposos, hermanos, padre/madre) mediante un guion estructurado. Esta información se complementó con una entrevista a un ortodoncista con experiencia en atención a estos individuos y un grupo focal con laparticipación de profesionales de la salud. Se realizó análisis de contenido cualitativo y estrategias de reducción fenomenológica desde los discursos experienciales de la población participante. Se contó con aprobación ética e institucional. Resultados: se encontraron cuatro categorías principales desde la experiencia de las personas con LPHNs que involucran diferentes perspectivas de los participantes del estudio: 1) concepto de CV y sus factores condicionantes, 2) experiencia de vida con la condición de LPHNs; 3) experiencia durante el tratamiento integral para la condición de LPHNs; y 4) expectativas generales. Todas estas categorías reflejan la historia de vida, los elementos individuales y sociales, y las dificultades propias de su condición. Conclusiones: existen factores individuales, sociales y contextuales que inciden en la CV de los pacientes con LPHNs. Esto implica un abordaje intersectorial y multidisciplinario que permita la generación de políticas en salud y estrategias de tratamiento acordes a las necesidades individuales y colectivas de estas personas.

Objective: Understand the perceptions and experiences about quality of life (QOL) and their conditionants in people with Non-syndromic Cleft Lip and Palate (NSCLP), from the experience of people living with this condition, and from their families and health personnel. Methods: A qualitative study with phenomenological perspective was conducted. Six individuals and relatives (partner, siblings, parents) were interviewed. This information was complemented by an interview with an orthodontist who works with people with NSCLP and a Focus Group with the participation of health personnel working in a Specialized Foundation focused on these individuals. Qualitative content analysis and phenomenological reduction strategies were carried out to address the main themes extracted from the discourses of the participating population. Ethical and institutional approval was obtained. Results: Four main categories of the experience of people with NSCLP were found that involve the different perspectives of the study participants: 1) concept of QOL and its conditioning factors, 2) life experience with the condition of NSCLP; 3) experience during comprehensive treatment for NSCLP condition; and 4) general expectations. All these categories reflect the life history, the individual and social elements, and the difficulties inherent to their condition. Conclusions: there are individual, social, and contextual factors that affect the QOL of people living with NSCLP. This situation implies an intersectoral and multidisciplinary approach that allows the generation of health policies and treatment strategies according to the individual and collective people's needs.

Estado nutricional y practicas alimentarias en lactantes con labio leporino y/o paladar hendido pre y post quirúrgico. Operación Sonrisa Paraguay 2020-2021

Introducción: El labio y paladar hendido (LPH) son una alteración cráneo facial de etiología multifactorial. La alimentación de los niños con LPH puede llegar a ser deficiente, comprometiendo el crecimiento y el desarrollo. Objetivo: Determinar la evolución del estado nutricional pre y post quirúrgico y las prácticas alimentarias en lactantes de 6 a 24 meses de edad, con labio y/o paladar hendido que acudieron a la Clínica de la Fundación Operación Sonrisa durante el periodo de setiembre 2020 a mayo del 2021. Materiales y métodos: Estudio observacional, prospectivo con componente analítico. Se incluyó a 50 niños con diagnóstico de LPH de 6 a 24 meses de edad. Se evaluó el estado nutricional según estándares del MSP y BS. Resultados: Fueron evaluados 50 lactantes de 6 a 24 meses, el 60 % entre 6 -11 meses, el 64 % fueron varones, el 54 % provenía del interior del país y fueron sometidos a cierre primario de labios el 86 % y el 12 % a reconstrucción de paladar hendido. El 88 % de los niños recibieron lactancia materna. El estado nutricional pre quirúrgico fue adecuado (94 %) por indicador peso para la edad. Post quirúrgico hubo una diferencia significativa de 0,927Kg para el peso para la talla (p< 0,001), lo mismo para el peso para la edad(p<0,001). Para la talla para la edad se encontró una diferencia de 0,8cm(p=ns). Conclusiones: El estado nutricional de los niños con labio o paladar hendido, mejora a los 4 meses post cirugía reconstructiva para los indicadores peso para la edad y peso para la talla.

Introduction: Cleft lip and palate (CLP) is a craniofacial alteration of multifactorial etiology. The diet of children with CLP can become deficient, compromising growth and development. Objective: To determine the evolution of the pre- and post-surgical nutritional status and feeding practices in infants between 6 and 24 months of age, with cleft lip and/or palate who attended the "Operation Smile" Foundation Clinic from September 2020 to May 2021. Materials and methods: This was an observational and prospective study with an analytical component. 50 children with a diagnosis of CLP from 6 to 24 months of age were included. Nutritional status was evaluated according to National Health Ministry standards. Results: 50 infants from 6 to 24 months were evaluated, 60% were between 6 -11 months, 64% were males, 54% came from the rural areas. 86% underwent primary lip closure and 12% cleft palate reconstruction. 88% of the children were breastfed. The pre-surgical nutritional status was adequate (94%) by weight for age indicator. Post surgery there was a significant difference of 0.927 kg for weight for height (p < 0.001), the same for weight for age (p < 0.001). For height for age, a difference of 0.8 cm was found (p=ns). Conclusions: The nutritional status of children with cleft lip or palate improves 4 months after reconstructive surgery for the indicators weight for age and weight for height.

Prevalência de anomalias dentárias e outros achados orais em radiografias panorâmicas de brasileiros com fissura labiopalatal: um estudo retrospectivo / Prevalence of dental anomalies and other oral findings on panoramic radiographs of Brazilian with cleft lip and palate: a retrospective study

Objetivo: avaliar a prevalência de anomalias dentárias (AD) e outros achados orais em radiografias panorâmicas de pacientes com fissuras labiopalatais (FLP) nascidos no Nordeste brasileiro. Métodos: a amostra foi composta por 69 pacientes com fissuras labiopalatais unilateral (FLPu) (n = 51) e bilateral (FLPb) (n = 18), não sindrômicos, de ambos os sexos, idade de 6 a 17 anos, nascidos no Nordeste brasileiro. Foram analisados prontuários e radiografias panorâmicas de pacientes atendidos de janeiro/2020 a julho/2022. Os dados categóricos foram expressos em forma de frequência absoluta e percentual e comparados por teste exato de Fisher ou qui-quadrado de Pearson (SPSS, p < 0,05). Resultados: entre os achados orais, destacaram-se as anomalias de número e as ausências dentárias por trauma, cárie ou doença periodontal. As AD foram identificadas em 34 pacientes (49,3%). As anomalias de número apresentaram maior prevalência, com diferença estatística significativa para pacientes FLPb do sexo masculino (p = 0,047). A agenesia foi a AD mais frequente (n = 24; 34,8%). As ausências dentárias por trauma, cárie ou doença periodontal foram observadas em 44 pacientes (n = 63,8%), com uma diferença estatística significativa entre os grupos FLPu e FLPb (p = 0,018). Conclusões: as AD e as ausências dentárias por trauma, cárie ou doença periodontal apresentaram uma alta prevalência entre pacientes brasileiros com FLP e devem ser consideradas durante o planejamento ortodôntico-cirúrgico desses indivíduos.

Aim: this study aimed to assess the prevalence of dental anomalies (DA) and other oral findings in panoramic radiographs of patients with cleft lip and palate (CLP) born in the Northeast region of Brazil. Methods: the sample consisted of 69 patients with unilateral cleft lip and palate (UCLP) (n = 51) and bilateral cleft lip and palate (BCLP) (n = 18), non-syndromic, of both genders, aged 6 to 17 years, born in the Brazilian Northeast. Patient records and panoramic radiographs from those treated between January 2020 and July 2022 were analyzed. Categorical data were expressed as absolute frequency and percentage and compared using Fisher's exact test or Pearson's chi-square test (SPSS, p < 0.05). Results: among oral findings, anomalies in number and tooth absences due to trauma, caries, or periodontal disease stood out. DAs were identified in 34 patients (49.3%). Anomalies in number showed higher prevalence, with a statistically significant difference for male BCLP patients (p = 0.047). Agenesis was the most frequent DA (n = 24; 34.8%). Tooth absences due to trauma, caries, or periodontal disease were observed in 44 patients (63.8%), with a statistically significant difference between the UCLP and BCLP groups (p = 0.018). Conclusions: DAs and tooth absences due to trauma, caries, or periodontal disease showed a high prevalence among Brazilian patients with CLP and should be considered during the orthodontic-surgical planning for these individuals.

miR-135a-5p regulates autophagy of mouse embryonic palatal mesenchymal cells via targeting Kif3B / 中国组织工程研究

BACKGROUND:Studies demonstrated that miR-135a-5p was highly expressed in mouse embryonic palatal mesenchymal cells with cleft palate induced by dexamethasone.The primary cilium and its mediated Shh signaling pathway were involved in the autophagy of mouse embryonic palatal mesenchymal cells.It is speculated that miR-135a-5p may regulate autophagy in mouse embryonic palatal mesenchymal cells through primary cilia and its mediated Shh signaling pathway. OBJECTIVE:To investigate the regulatory effect of miR-135a-5p on autophagy of mouse embryonic palatal mesenchymal cells. METHODS:In vitro,palatal mesenchymal cells from C57BL/6J mouse embryos were extracted and cultured.Cell transfections were set up as follows:(1)the cells were divided into control group,miR-135a-5p negative control group and miR-135a-5p mimic group;(2)NC+miR-NC group,KIF3B overexpression group,and miR-135a-5p+KIF3B group:qRT-PCR was performed to verify transfection efficiency of miR-135a-5p and KIF3B.A transmission electron microscope was used to observe the number of autophagosome/autophagolysosome in the cells of each group.The degree of fluorescence expression of autophagy marker LC3B was determined by the immunofluorescence technique.The protein expression of KIF3B,LC3 and P62 was determined by western blot assay.(3)The cells were divided into miR-135a-5p negative control group,and SAG treated group,and SAG+miR-135a-5p group.qRT-PCR was used to detect the mRNA expression levels of Gli3,a key transcription factor downstream of Shh signaling.The protein expressions of autophagy-related proteins LC3 and P62 were detected by western blot assay. RESULTS AND CONCLUSION:(1)After overexpression of miR-135a-5p,the number of autophagosome/autophagolysosome was significantly increased(P<0.01).The fluorescence density of LC3B increased significantly(P<0.01);the protein expression of KIF3B and P62 decreased(P<0.01),and the protein expression of LC3 increased.(2)After overexpression of KIF3B,the number of autophagosome/autophagolysosome was significantly decreased(P<0.01);the fluorescence density of LC3B was decreased(P<0.01);the protein expression of P62 was increased(P<0.01),and the protein expression of LC3 was decreased(P<0.01).Targeted expression of KIF3B was inhibited by miR-135a-5p(P<0.01);the number of autophagosome/autophagolysosome,the fluorescence intensity of LC3B as well as the protein expression of LC3 were reversed(P<0.01)and the protein expression of P62 was decreased(P<0.01).(3)SAG significantly increased the mRNA expression of Gli3(P<0.01),increased the protein expression of P62(P<0.01),and decreased the protein expression of LC3(P<0.01).When miR-135a-5p was added,Gli3 mRNA expression was significantly decreased(P<0.01);P62 protein expression was decreased(P<0.01),and LC3 protein expression was reversed(P<0.01).(4)These results indicate that miR-135a-5p targets the inhibition of KIF3B and promotes autophagy in mouse embryonic mesenchymal cells possibly by negatively regulating the Shh signaling pathway.

Exploring the role of the WNT5A rs566926 polymorphism and its interactions in non-syndromic orofacial cleft: a multicenter study in Brazil

Abstract Associations between the WNT5A rs566926 variant and non-syndromic orofacial cleft (NSOC) have been reported in different populations. Objective This study aimed to investigate the role of the rs566926 single nucleotide polymorphism (SNP) in WNT5A and its interactions with SNPs in BMP4, FGFR1, GREM1, MMP2, and WNT3 in the occurrence of NSOC in a Brazilian population. Methodology A case-control genetic association study was carried out involving participants from four regions of Brazil, totaling 801 patients with non-syndromic cleft lip with or without cleft palate (NSCL±P), 273 patients with cleft palate only (NSCPO), and 881 health volunteers without any congenital condition (control). Applying TaqMan allelic discrimination assays, we evaluated WNT5A rs566926 in an ancestry-structured multiple logistic regression analysis, considering sex and genomic ancestry as covariates. Interactions between rs566926 and variants in genes involved in the WNT5A signaling pathway (BMP4, FGFR1, GREM1, MMP2, and WNT3) were also explored. Results WNT5A rs566926 was significantly associated with an increased risk of NSCL±P, particularly due to a strong association with non-syndromic cleft lip only (NSCLO), in which the C allele increased the risk by 32% (OR: 1.32, 95% CI: 1.04-1.67, p=0.01). According to the proportions of European and African genomic ancestry, the association of rs566926 reached significant levels only in patients with European ancestry. Multiple interactions were detected between WNT5A rs566926 and BMP4 rs2071047, GREM1 rs16969681 and rs16969862, and FGFR1 rs7829058. Conclusion The WNT5A rs566926 polymorphism was associated with NSCL±P, particularly in individuals with NSCLO and high European ancestry. Epistatic interactions involving WNT5A rs566926 and variants in BMP4, GREM1, and FGFR1 may contribute to the risk of NSCL±P in the Brazilian population.

Epidemiologic profile and prevalence of live births with orofacial cleft in Brazil: a descriptive study / Perfil epidemiológico e prevalência de nascidos vivos com fissura orofacial no Brasil: um estudo descritivo

ABSTRACT Objective: To describe the epidemiological profile and prevalence of live births with orofacial clefts in Brazil between 1999 and 2020. Methods: Descriptive study. The population corresponded to live births with isolated orofacial clefts in Brazil registered in the Live Birth Information System between 1999 and 2020. Descriptive variables were selected according to their availability and grouped into socioeconomic and demographic, maternal and child health care, and biological variables. Data were submitted to a descriptive analysis using the Software for Statistics and Data Science (STATA). Results: During the period, 33,699 children were born with orofacial clefts, and 82.1% (27,677) of them were isolated clefts. Regarding these cases, the majority were cleft lip and palate (9,619 or 34.7%), followed by cleft palate (9,442 or 34.1%), and by cleft lip (8,616 or 31.3%). Conclusions: Live births with orofacial clefts in Brazil were male, white, with birthweight ≥2,500 g and gestational age ≥37 weeks, born by cesarean section, and with Apgar scores ≥7. The cases were more frequent among mothers who were in their first and single pregnancy and had seven or more prenatal appointments. The mothers were 20 and 29 years old, had eight to ten years of study, and were single. The national prevalence of clefts was 4.24/10,000. The South and Southeast regions of Brazil had the highest prevalence, while the lowest prevalence was recorded in the Northeast and North regions. For the Federative Units, the highest and lowest prevalences were found, respectively, in Paraná and Acre.

RESUMO Objetivo: Descrever o perfil epidemiológico e a prevalência dos nascidos vivos com fissuras orofaciais no Brasil entre 1999 e 2020. Métodos: Estudo descritivo. A população correspondeu aos nascidos vivos com fissuras orofaciais isoladas no Brasil registrados no Sistema de Informação de Nascidos Vivos entre 1999 e 2020. As variáveis descritivas foram selecionadas de acordo com a sua disponibilidade e agrupadas em variáveis socioeconômicas e demográficas, de atenção à saúde materno-infantil e biológicas. Os dados foram submetidos a análise descritiva utilizando o Software for Statistics and Data Science (STATA). Resultados: No período, 33.699 indivíduos nasceram com fissura orofacial no Brasil, e 82,1% (27.677) deles foram fissuras isoladas. Com relação a esses casos, a maioria foi de fissuras de lábio e palato (9.619 ou 34,7%), seguidas por fissura de palato (9.442 ou 34,1%) e por fissura de lábio (8.616 ou 31,1%). Conclusões: O perfil epidemiológico dos nascidos vivos com fissuras orofaciais no Brasil foi de nascidos do sexo masculino, da raça/cor branca, por parto cesáreo, com peso ao nascer ≥2,500 g, idade gestacional ≥37 semanas e com índices de Apgar ≥7. Os casos foram mais frequentes entre mães que estavam na primeira gestação, única e que haviam realizado sete ou mais consultas de pré-natal. As mães, com maior frequência, tinham entre 20 e 29 anos, apresentavam oito ou mais anos de estudo, eram solteiras e residiam em cidades do interior. A prevalência nacional de fissuras foi de 4,24/10.000. As Regiões Sul e Sudeste apresentaram as maiores prevalências, enquanto as menores foram registradas nas Regiões Nordeste e Norte. Para as Unidades Federativas, as maiores e menores prevalências foram encontradas, respectivamente, no Paraná e no Acre.

Biomechanical behavior of three maxillary expanders in cleft lip and palate: a finite element study

Abstract: This study evaluated the stress distribution in the dentoalveolar and palatal bone structures during maxillary expansion in a 17-year-old male patient with bilateral cleft lip and palate (BCLP) using expanders with dental (HYRAX) and skeletal anchorage (MARPE). For the generation of the specific finite element models, cone-beam computed tomography was used, and the DICOM files were exported to Mimics 3-Matic (Materialise) and Patran (MSC Software) software. Three specific three-dimensional models were generated: A) HYRAX: conventional four-banded hyrax screw (9 mm); B) MARPE-DS: 3 miniscrews (1.8 mm diameter - 5.4 mm length) and four-banded dental anchorage; and C) MARPE-NoDS: 3 miniscrews without dental anchorage. Maxillary expansion was simulated by activating the expanders transversely 1 mm on the "X" axis. HYRAX resulted in higher levels of deformation predominantly in the dentoalveolar region. MARPE-DS showed stress in the dentoalveolar region and mainly in the center of the palatal region, at approximately 4,000 με. MARPE-NoDS exhibited evident stress only in the palatal region. High stress levels in the root anchoring teeth were observed for HYRAX and MARPE-DS. In contrast, MARPE-NoDS cause stress on the tooth structure. The stress distribution from the expanders used in the BLCP showed asymmetric expansive behavior. During the initial activation phase of expansion, the HYRAX and MARPE-DS models produced similarly high strain at the dentoalveolar structures and upper posterior teeth displacement. The MARPE-NoDS model showed restricted strain on the palate.

History of Eugenics in Otorhinolaryngology: Ernst Rüdin and the International Eugenics Network

Abstract Introduction The early geneticist and psychiatrist Ernst Rüdin (1874-1952) became one of the key figures in the eugenics movement and in the German health system of the Nazi era. His connections in the international eugenics network have played an important role in the history of eugenics. Objective To discuss the connections between Ernst Rüdin's scientific group in Munich and Otmar von Verschuer's group in Frankfurt during the Nazi era. Methods Otorhinolaryngological materials from Ernst Rüdin's former private library are presented, and they show Rüdin's deep involvement in the international eugenics network. These materials provide insights into early medical genetics in otorhinolaryngology. Results One result of the present study is that eugenics groups from Munich, Frankfurt, and New York certainly influenced one another in the field of otorhinolaryngology. Karlheinz Idelberger and Josef Mengele were two scientists who performed hereditary research on orofacial clefts. Later, Mengele became deeply involved in Nazi medical crimes. His former work on orofacial clefts clearly had, to some extent, an influence on subsequent studies. Conclusion An international eugenics network already existed before 1933. However, it becomes clear that the weaknesses of many early genetic studies did not enable its authors to draw firm scientific conclusions, suggesting that scientists lacked an accurate concept of the genetic causes of most illnesses.

Adolescents with orofacial clefts: understanding their experiences / Adolescentes com fissura orofacial: compreendendo suas experiências

ABSTRACT Objective: To understand the experience of young people with orofacial clefts regarding life as an adolescent. Methods: Descriptive, qualitative study, developed in a Brazilian public and tertiary hospital, a reference center in the care of patients with craniofacial anomalies and related syndromes, between February and April 2019. The sample was defined by theoretical saturation. The following inclusion criteria were established: age between ten and 19 years old and having previously operated on orofacial cleft (lip and/or palate). Individuals with fissure associated with syndromes or other malformations were excluded. Data collection was performed through semi-structured interviews, which were audio recorded and transcribed in full. The trigger element was: how has it been for you to experience your adolescence? For the construction of the results, content analysis was used in the thematic modality. Results: Seventeen adolescents participated. From the speeches, three categories were revealed: interacting socially, feeling supported, and experiencing and facing prejudice. Conclusions: The biopsychosocial and conflicting complexity that adolescents with orofacial clefts experience was noticed, as well as the importance of receiving support and establishing modalities of situational coping.

RESUMO Objetivo: Compreender a experiência de jovens com fissura orofacial quanto à vivência da adolescência. Métodos: Estudo descritivo, qualitativo, desenvolvido em um hospital público e terciário brasileiro, referência no atendimento de pacientes com anomalias craniofaciais e síndromes relacionadas, entre fevereiro e abril de 2019. A amostra foi definida por saturação teórica. Estabeleceram-se como critérios de inclusão: idade compreendida entre dez e 19 anos completos e apresentação de fissura orofacial (lábio e/ou palato) previamente operada. Excluíram-se aqueles que apresentavam a fissura associada a síndromes ou outras malformações. A coleta de dados foi realizada por meio de entrevista semiestruturada, que foi gravada em áudio e transcrita na íntegra. O elemento disparador foi: como tem sido para você vivenciar sua adolescência? Para a construção dos resultados, utilizou-se a análise de conteúdo na modalidade temática. Resultados: Participaram 17 adolescentes. Com base nos discursos, desvelaram-se três categorias: interagindo socialmente; sentindo-se apoiado; e vivenciando e enfrentando o preconceito. Conclusões: Percebeu-se a complexidade biopsicossocial e conflituosa que adolescentes com fissura de orofacial vivenciam, assim como a importância de eles receberem apoio e de se estabelecerem modalidades de enfrentamento situacional.

Itinerário terapêutico de crianças com fissura labiopalatina / Itinerario terapéutico del niño con labio y paladar hendido / Therapeutic itinerary of children with cleft lip and palate

Resumo Objetivo conhecer o itinerário terapêutico de crianças com fissuras de lábio e/ou palato. Método estudo descritivo de natureza qualitativa realizado com famílias de crianças com fissura labiopalatina. A coleta de dados ocorreu entre junho e julho de 2022 por meio de entrevistas semiestruturadas, e aplicou-se a análise de conteúdo temática. Resultados participaram oito famílias e emergiram três categorias: I) Enfrentando o desconhecido: diagnóstico de fissura labiopalatina na criança - notaram-se sentimentos de choque, medo e incerteza que permeiam durante o diagnóstico precoce ou tardio; II) Um caminho árduo: pausas e recomeços durante o itinerário terapêutico - observou-se que as famílias percorreram caminhos diferentes devido à especificidade da configuração familiar e da própria fissura; III) Tecendo a rede de apoio para o cuidado - mostrou-se ser de extrema necessidade o apoio dos amigos, família, profissionais e instituições de saúde. Conclusões e implicações para prática o itinerário terapêutico de crianças com fissura labiopalatina é árduo e acompanhado de desafios, que se iniciam no diagnóstico e permanecem após o nascimento. Espera-se que os resultados deste estudo suscitem o diálogo entre os profissionais de saúde e se familiarizem com as necessidades dessa população e possam atuar nos diferentes pontos de atenção à saúde.

Resumen Objetivo conocer el itinerario terapéutico de los niños con labio hendido y/o paladar hendido. Método estudio cualitativo descriptivo realizado con familias de niños con labio y paladar hendido. La recolección de datos se realizó entre junio y julio de 2022 mediante entrevistas semiestructuradas, y se aplicó análisis de contenido temático. Resultados participaron ocho familias y surgieron tres categorías: I) Frente a lo desconocido: diagnóstico de labio y paladar hendido en niños: se observaron sentimientos de shock, miedo e incertidumbre que permean durante el diagnóstico temprano o tardío; II) Un camino arduo: pausas e inicios durante el itinerario terapéutico - se observó que las familias siguieron caminos diferentes debido a la especificidad de la configuración familiar y de la propia hendidura; III) Tejer la red de apoyo para la atención: el apoyo de amigos, familiares, profesionales e instituciones de salud resultó ser extremadamente necesario. Conclusiones e implicaciones para la práctica el itinerario terapéutico de los niños con labio y paladar hendido es arduo y está acompañado de desafíos, que comienzan desde el diagnóstico y continúan después del nacimiento. Se espera que los resultados de este estudio fomenten el diálogo entre los profesionales de la salud y conozcan las necesidades de esta población y puedan actuar en los diferentes puntos de la atención en salud.

Abstract Objective to understand the therapeutic itinerary of children with cleft lip and/or palate. Method a descriptive qualitative study carried out with families of children with cleft lip and palate. Data collection took place between June and July 2022 through semi-structured interviews, and thematic content analysis was applied. Results eight families participated and three categories emerged: I) Facing the unknown: diagnosis of cleft lip and palate in children - feelings of shock, fear and uncertainty were noted that permeate during early or late diagnosis; II) An arduous path: pauses and beginnings during the therapeutic itinerary - it was observed that the families followed different paths due to the specificity of the family configuration and the cleft itself; III) Weaving the support network for care - support from friends, family, professionals and health institutions proved to be extremely necessary. Conclusions and implications for practice the therapeutic itinerary of children with cleft lip and palate is arduous and followed by challenges, which begin at diagnosis and continue after birth. It is hoped that the results of this study will encourage dialogue among health professionals and become familiar with the needs of this population and be able to act at different points of health care.

Anquilobléfaro filiforme congênito / Ankyloblepharon filiforme adnatum

RESUMO O anquiloblefáro filiforme congênito é uma rara anomalia congênita, caracterizada por uma fusão palpebral, parcial ou completa, cuja incidência é de 4,4 por 100 mil recém-nascidos. Normalmente, o anquiloblefáro filiforme congênito constitui uma malformação solitária, de ocorrência esporádica, no entanto, pode estar associado a outras malformações. O pediatra possui papel imprescindível para observar as alterações clínicas do recém-nascido e dar orientação para o tratamento adequado. O objetivo deste estudo foi relatar o caso de recém-nascido de termo que teve diagnóstico precoce de anquiloblefáro filiforme congênito associado a outras malformações congênitas, tendo desfeito as aderências em procedimento cirúrgico oportuno, evitando-se a evolução para futuras complicações visuais do paciente.

ABSTRACT Ankyloblepharon filiforme adnatum is a rare congenital anomaly, characterized by partial or complete palpebral fusion, with an incidence of 4.4 per 100,000 newborns. Normally, ankyloblepharon filiforme adnatum constitutes a solitary malformation, with sporadic occurrence, however, it can be associated with other malformations. Pediatricians play an essential role in observing clinical changes in newborns and providing guidance on appropriate treatment. The this study aims to report the case of a full-term newborn who had an early diagnosis of ankyloblepharon filiforme adnatum associated with other congenital malformations.

ENAM gene polymorphisms associated with dental anomalies in individuals with cleft lip and palate

Aim: This study aimed to investigate the occurrence of enamelin gene (ENAM) single nucleotide polymorphisms (SNP) and ENAM polymorphism association with dental anomalies (DA) in individuals with unilateral or bilateral cleft lip and palate (CLP). Methods: Saliva samples were collected from 147 individuals aged between 6 and 15 years-old, both genders, and divided into 4 groups: Group 1 (G1) - CLP and DA; Group 2 (G2) - CLP without DA; Group 3 (G3) - without CLP with DA; Group 4 (G4) - without CLP and DA. The genomic DNA was extracted from saliva samples and the following ENAM SNPs markers were genotyped: rs3796703, rs3796704, rs3796705, rs7671281, rs2609428, and rs35951442. Fisher exact and Pearson's Chi-square tests statistically analyzed the results (α=5%). Results: Individuals without CLP with DA (Group 3 - 19.2%) showed statistically higher prevalence of SNP rs2609428 heterozygotes (p=0.006) than individuals with CLP and DA (Group 1 - 0%). Individuals without CLP (10%) exhibited statistically higher prevalence of mutated heterozygotes/homozygous (p=0.028) than in individuals with CLP (1.3%). Conclusion: SNP rs2609428 marker of ENAM gene may be associated with dental anomalies in individuals without cleft lip and palate

Fatores associados à adesão ao aleitamento materno em lactentes com fissura orofacial: revisão de escopo / Factors associated with breastfeeding adherence in infants with orofacial clefts: a scoping review / Factores asociados a la adherencia a la lactancia materna en lactantes con fisura orofacial: revisión del alcance

RESUMO: Objetivo: Mapear os fatores associados à adesão ao aleitamento materno em lactentes com fissura orofacial. Método: Revisão de escopo conforme recomendações do Instituto Joanna Briggs, com busca realizada em março de 2023, nas bases de dados PubMed, CINAHL, Web of Science, SCOPUS, EMBASE, LILACS, ProQuest e BDTD. Resultados: Foram selecionados 31 documentos. Fatores associados a adesão ao aleitamento materno incluíram: complexidade anatômica da fissura, orientação/treinamento pré e pós-natal, desejo de amamentar, experiência prévia, conhecimento dos benefícios da amamentação, uso de obturadores palatinos, uso de sonda alimentadora, apoio social, familiar e profissional, ordenha e oferta por utensílios e realização precoce da queiloplastia. Conclusão: Embora a complexidade da fissura consista em um fator não modificável precocemente, as demais variáveis que influenciam à adesão ao aleitamento materno são passíveis de intervenções. Assim, o apoio de todos os envolvidos no processo de amamentação é fundamental para sua otimização.

ABSTRACT Objective: To map the factors associated with breastfeeding adherence in infants with orofacial clefts. Method: Scoping review according to the recommendations of the Joanna Briggs Institute, with a search carried out in March 2023 in the PubMed, CINAHL, Web of Science, SCOPUS, EMBASE, LILACS, ProQuest and BDTD databases. Results: A total of 31 documents were selected. Factors associated with adherence to breastfeeding included: anatomical complexity of the cleft, preand post-natal guidance/training, desire to breastfeed, previous experience, knowledge of the benefits of breastfeeding, use of palatal obturators, use of feeding tube, social, family, and professional support, milking and offering by utensils and early performance of cheiloplasty. Conclusion: Although the complexity of the cleft is a factor that cannot be changed early on, the other variables that influence adherence to breastfeeding can be intervened upon. Thus, the support of all those involved in the breastfeeding process is fundamental for its optimization.

RESUMEN: Objetivo: Mapear los factores asociados a la adherencia a la lactancia materna en lactantes con fisuras orofaciales. Método: Revisión de alcance según recomendaciones del Instituto Joanna Briggs, la búsqueda se realizó en marzo de 2023, en las bases de datos PubMed, CINAHL, Web of Science, SCOPUS, EMBASE, LILACS, ProQuest y BDTD. Resultados: Se seleccionaron 31 documentos. Los factores asociados a la adherencia a la lactancia materna incluyeron: complejidad anatómica de la fisura, orientación/capacitación prenatal y posnatal, deseo de amamantar, experiencia previa, conocimiento sobre los beneficios de la lactancia materna, uso de obturadores palatinos, uso de sonda de alimentación, apoyo social, familiar y profesional, extracción de leche y administración mediante utensilios y queiloplastía temprana. Conclusión: Si bien la complejidad de la fisura es un factor que no puede modificarse tempranamente, las demás variables que influyen en la adherencia a la lactancia materna son pasibles de intervención. Por lo tanto, el apoyo de todos los implicados en el proceso de lactancia materna es fundamental para su optimización.

Prevalence and clinical characterization of oral clefts in patients with chromosome trisomy 18 / Prevalência e caracterização clínica de fendas orais em pacientes com trissomia do cromossomo 18

ABSTRACT Objective: To verify the prevalence and perform the clinical characterization of oral clefts in a sample of patients with trisomy of chromosome 18 in Southern Brazil. Methods: This was a retrospective cross-sectional study, performed in a reference clinical genetic service in Southern Brazil. The initial sample consisted of 77 patients diagnosed in the neonatal period with trisomy 18 treated at the Clinical Genetics Service of a referral hospital at Federal University of Health Sciences of Porto Alegre (UFCSPA). The patients' diagnosis was confirmed by karyotype and care was provided during their stay in the intensive care unit (ICU) of the hospital that is a reference in Southern Brazil for care for malformed patients. The period covered was from 1975 to 2020. Results: During the study period, 77 patients diagnosed with trisomy 18 were treated, most of them in the ICU. Of these, 13 individuals were excluded due to incomplete data. The final sample consisted of 64 patients with an average age of 2.4 years of life, ranging from one day to 16 years old, the majority of whom were female. Regarding face dysmorphisms identified in the sample, three (4,68%) patients had cleft lip and two (3,11%) had cleft lip and palate. Conclusions: This study contributed to the recognition of the characteristics and prevalence of oral clefts in individuals with trisomy 18 in a sample of patients from Southern Brazil. In addition, we described the clinical alterations found in patients with oral clefts, as well as other associated comorbidities, such as cardiac, neurological and pulmonary comorbidities, as well as cranial and facial dysmorphisms.

RESUMO Objetivo: Verificar a prevalência e realizar a caracterização clínica das fissuras orais em uma amostra de pacientes com trissomia do cromossomo 18 no sul do Brasil. Métodos: Este foi um estudo transversal retrospectivo, realizado em um serviço de referência em genética clínica do sul do Brasil. A amostra inicial foi composta de 77 pacientes com diagnóstico no período neonatal de trissomia 18 atendidos no Serviço de Genética Clínica da Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA). O diagnóstico dos pacientes foi confirmado por cariótipo e os atendimentos foram realizados durante sua internação na unidade de terapia intensiva (UTI) de hospital de referência no sul do Brasil para atendimento em pacientes malformados. O período abrangido foi de 1975 a 2020. Resultados: Durante o período do estudo foram atendidos, a maioria na UTI do hospital, 77 pacientes com diagnóstico de trissomia do cromossomo 18. Destes, 13 indivíduos foram excluídos por apresentarem dados incompletos. A amostra final foi de 64 pacientes, com idade média de 2,4 anos de vida, variando de um dia de vida a 16 anos, a maioria do sexo feminino. Com relação aos dismorfismos faciais identificados na amostra, três (4,68%) pacientes apresentavam fissuras labiais e dois (3,11%) fissuras labiopalatinas. Conclusões: Este estudo trouxe como contribuições o reconhecimento das características e a prevalência das fendas orais nos indivíduos com trissomia do cromossomo 18 em uma amostra de pacientes do sul do Brasil. Além disso, descrevemos as alterações clínicas encontradas em pacientes com fissuras orais, bem como outras comorbidades associadas, como comorbidades cardíacas, neurológicas e pulmonares, além de dismorfismos cranianos e faciais.

Satisfacción posterior a la intervención quirúrgica en pacientes con labio y paladar hendido en el Hospital Central Militar / Satisfaction after surgical intervention in patients with cleft lip and palate at the Hospital Central Militar

Resumen Objetivo: Conocer el nivel de satisfacción percibido en pacientes posoperados con labio y paladar hendido conforme al resultado estético y funcional en el Hospital Central Militar. Metodología: Se procedió a realizar cuestionario Cleft Q en la consulta externa de reconstrucción del Hospital Central Militar a los pacientes posoperados con labio y paladar hendido y sus padres, otorgándole un tiempo aproximado de 20 minutos para su llenado bajo supervisión directa, se recabaron los resultados obtenidos para posteriormente proceder al análisis estadístico descriptivo. Resultados: Los resultados en la esfera "apariencia" sugieren que los pacientes están más satisfechos con la apariencia de la cicatriz de queiloplastia después de la cirugía. Respecto a la esfera de funcionalidad facial, se observa que la función de comer y beber resultó con una puntuación más satisfactoria. Hablando de la calidad de vida relacionada con la salud, la función escolar resultó con mayor puntuación. Limitaciones del estudio o implicaciones: Ninguna. Originalidad o valor: Es el primer estudio realizado en el Hospital Central Militar valorando la satisfacción quirúrgica en pacientes con labio y paladar hedido. Conclusiones: Los resultados de las esferas anteriores sugieren que los pacientes intervenidos en un tratamiento quirúrgico reconstructivo presentan mejoría con su apariencia, en la funciona de comer y hablar, así como la calidad de para socializar y desarrollarse en la escuela.

Abstract: Objective: To know the level of satisfaction perceived in postoperative patients with cleft lip and palate according to the aesthetic and functional result at the Hospital Central Militar. Methodology: The Cleft Q questionnaire was carried out in the reconstruction outpatient clinic of the Hospital Central Militar for postoperative patients with cleft lip and palate and their parents, giving it an approximate time of 20 minutes to fill it out under direct supervision, the results were collected. obtained to later proceed to the descriptive statistical analysis. Results: The results in the "appearance" sphere suggest that patients are more satisfied with the appearance of the cheiloplasty scar after surgery. Regarding the sphere of facial functionality, it is observed that the function of eating and drinking resulted in a more satisfactory score. Talking about the quality of life related to health, the school function resulted in a higher score. Study limitations or implications: None. Originality or value: It is the first study carried out in the Hospital Central Militar assessing surgical satisfaction in patients with cleft lip and palate. Conclusions: The results of the previous areas suggest that patients undergoing reconstructive surgical treatment present improvement with their appearance, improvement. In the function of eating and speaking, as well as the quality of socializing and development in school.

Enxerto ósseo alveolar autógeno associado a biomateriais em fissura lábio palatina / Injerto óseo alveolar autógeno asociado a biomateriales en labio y paladar hendido / Autogenous alveolar bone graft associated with biomaterials in cleft lip and palate

Objetivo: Discutir a utilização do enxerto ósseo autógeno associado a biomateriais na reconstrução de defeito ósseo alveolar em paciente com fissura lábio palatina. Relato de caso: Paciente, 09 anos de idade, em tratamento no Serviço Integrado de Reabilitação de Anomalias Craniofaciais do Hospital São Marcos, Teresina - Piauí - Brasil, apresentando fissura lábio palatina unilateral, completa à esquerda, não sindrômica, submetido à queiloplastia aos 03 meses de idade, e palatoplastia aos 18 meses, resultando como sequela uma fístula oronasal, corrigida cirurgicamente quando a paciente completou 07 anos de idade. Aos 09 anos, realizou-se a cirurgia com enxerto ósseo alveolar, com osso autógeno associado a osso mineral tipo (Bio-Oss, Geistlich), protegido com membrana de colágeno (Bio-Gide, Geistlich) e membrana de Fibrina Rica em Plaqueta (PRF). Conclusão: O enxerto ósseo alveolar utilizando osso autógeno associado a osso mineral bovino, membrana de colágeno e membrana de Fibrina Rica em Plaquetas (PRF) assim como a intervenção cirúrgica na faixa etária citada na literatura mostraram-se eficientes para se atingir o sucesso terapêutico... (AU)

Objetivo: Discutir el uso de injerto óseo autógeno asociado a biomateriales en la reconstrucción del defecto óseo alveolar en un paciente con labio y paladar hendido. Reporte de caso: Paciente de 09 años de edad, en tratamiento en el Servicio Integrado de Rehabilitación de Anomalías Craneofaciales del Hospital São Marcos, Teresina - Piauí - Brasil, presentando labio y paladar hendido unilateral, completo a la izquierda, no sindrómico, sometido a queiloplastia a los 03 meses de edad, y palatoplastia a los 18 meses, resultando como secuela una fístula oronasal, corregida quirúrgicamente cuando el paciente completó 07 años de edad. A los 09 años de edad, se realizó una intervención quirúrgica con injerto óseo alveolar, con hueso autógeno asociado de tipo mineral (Bio-Oss, Geistlich), protegido con membrana de colágeno (Bio-Gide, Geistlich) y Membrana de Fibrina Rica en Plaquetas (PRF). Conclusión: El injerto óseo alveolar utilizando hueso autógeno asociado a hueso mineral bovino, membrana de colágeno y Membrana de Fibrina Rica en Plaquetas (PRF), así como la intervención quirúrgica en el rango de edad citado en la literatura, se mostraron eficientes para lograr el éxito terapéutico... (AU)

Objective: To discuss the use of autogenous bone graft associated with biomaterials in the reconstruction of alveolar bone defect in a patient with cleft lip and palate. Case Report: Patient, 09 years old, under treatment at the Integrated Service for Rehabilitation of Craniofacial Anomalies of the Hospital São Marcos, Teresina - Piauí - Brazil, presenting unilateral cleft lip and palate, complete to the left, not syndromic, underwent cheiloplasty at 03 months of age, and palatoplasty at 18 months, resulting as a sequela an oronasal fistula, surgically corrected when the patient turned 07 years old. At 09 years of age, surgery was performed with alveolar bone grafting, with autogenous bone associated with mineral bone type (Bio-Oss, Geistlich), protected with collagen membrane (Bio-Gide, Geistlich) and Platelet Rich Fibrin (PRF) membrane. Conclusion: Alveolar bone grafting using autogenous bone associated with bovine mineral bone, collagen membrane and Platelet Rich Fibrin Membrane (PRF) as well as surgical intervention in the age range cited in the literature were shown to be efficient in achieving therapeutic success... (AU)

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.