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.

Parents' Emotional and Social Experiences of Caring a Child with Cleft Lip and/or Palate

ABSTRACT Objective: To evaluate the emotional and social experiences of parents or caregivers of children with cleft lip and/or palate (CL/P) in a city in the Northeastern of Brazil. Material and Methods: A quantitative and cross-sectional study was conducted among parents or caregivers of children with CL/P by interviews based on a questionnaire. Interviews were conducted during the First Smile Project in Sobral, Ceará, Brazil. All participants (n=41) agreed to participate in the interview and signed an informed consent. The data was analyzed in SPSS software version 22.0. Results: The majority of participants were female (87.2%), with a mean age of 37 years, with a low level of education and low family income. The great majority (90.2%) of the parents were not prenatally diagnosed to have CL/P babies. Of those interviewed, 56.1% mentioned that the first diagnosis of cleft lip and palate was not presented by the professionals in a clarifying way to the family. Fear (36.6%) and sadness (19.5%) were the main feelings experienced when the child was diagnosed with fissure. Feeding (48.8%) was pointed out as the main concern in caring for a child with CL/P. Conclusion: The parents and caregivers interviewed faced important emotional and social problems that must be addressed by the professional team that assists the child with CL/P.

3D Assessment of the Correlation between Neonatal Morphology and Occlusal Outcomes in 5-Year-Old Patients with Complete Unilateral Cleft Lip and Palate

ABSTRACT Objective: To exploit 3D measurement technology to determine any correlation between neonatal palate morphology and occlusal outcomes at five years in patients receiving surgery for unilateral cleft lip and palate (CLP). Material and Methods: Twenty-nine neonatal and 5-year models treated by the same surgeon using the same protocol for CLP correction were scanned using a high-resolution structured-light scanner and stored in stl format. Dedicated software was used to make linear and surface area measurements on the neonatal models, and each digitized 5-year model was assigned a Five-Year-Old (5YO) index score on three separate occasions by the same investigator. Results: Minimum, maximum, mean, standard deviation and standard error were calculated for each variable considered, and the Pearson coefficient was used to identify any correlations between neonatal variables and 5YO scores. Linear regression analysis showed that the only variable to approach significance was the posterior width of the cleft, which showed an R2 equal to 0.111, indicating that it accounts for 11% of the variability of the 5YO index. There was no other appreciable correlation between linear measurements, surface areas, or their inter-relationships. Conclusion: There is no correlation between neonatal morphological characteristics and occlusal outcomes at 5 years in CLP patients treated via the surgical protocol considered.

Association of a Polymorphism in the Gene Encoding Methylenetetrahydrofolate Dehydrogenase 1 (MTHFD1) 1958G> A with Orofacial Cleft

ABSTRACT Objective: To evaluate the possible association of a polymorphism in the gene encoding methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), 1958G>A, with the susceptibility to orofacial cleft in an Indonesian population. Material and Methods: A total of 200 stored secondary biological samples from 30 cases of orofacial cleft and 170 unaffected controls were analyzed to determine the polymorphism status at base 1958. The analysis was conducted using the PCR-restriction fragment length polymorphism technique after digestion with the Msp1 restriction enzyme. The samples were then subjected to agarose gel electrophoresis to investigate the presence or absence of the following fragments: genotype GG, 196, 86 and 40 base pairs (bp); genotype AA, 282 and 28 bp and genotype AG, 282, 196, 86, 40 and 28 bp. The test groups were compared using the Chi-square test. Results: The wild-type allele containing 1958G, as well as the genotype GG, were significantly more common in the control group than in the orofacial cleft group. Conclusion: The MTHFD1 1958G>A polymorphism was significantly associated with orofacial cleft susceptibility in the tested Indonesian population.

Types of Feeding and Presence of Harmful Oral Habits in Children with Cleft Lip and/or Palate: A Pilot Study

Abstract Objective: To verify the relationship between the types of feeding and presence of harmful oral habits (HOH) in children with cleft lip (CL), palate (CP) and cleft lip and palate (CLP), as well as to compare the different types of cleft to each other. Material and Methods: A form was applied to the parents of 162 children (3-5 years old), addressing the following variables: gender, cleft type, age, socioeconomic conditions, type of breastfeeding, presence of HOH, and the parents' knowledge about the consequences of oral habits. The data obtained were analyzed by chi-square test (p<0.05). Results: The majority of children (83.3%) were bottle-fed and 12.3% were exclusively maternal breastfed. The main reason for weaning was the presence of cleft (59.9%). Breastfeeding was significantly higher in children with CL (75%) in comparison with CP (20%) and CLP (5%) (p<0.001). Children with CLP were 12 times more likely to be bottle-fed than children with CL (OR=12.21; CI=4.09-36.45). The prevalence of HOH was 37%. Sociodemographic characteristics were not associated with the presence of HOH (p>0.05). The type of feeding and cleft were not decisive to present some type of HOH (p>0.05) and 87% of parents stated that HOH could lead to serious complications of tooth misalignment. Conclusion: The type of feeding and fissure did not determine the acquisition of harmful oral habits in children with cleft. However, the greater the fissure's complexity, the lesser the chance of children receiving exclusive breastfeeding.

Using Standard Digital Extra-Oral Photography in Patient With Cleft Lip and Palate / Uso de Fotografía Digital Extra Oral Estandarizada en Pacientes con Fisura Labiopalatina

ABSTRACT: A standardized photographic documentation is reproducible, which facilitates the evaluation of new techniques, treatment planning, and comparison of results. Clinical photography is important to impart scientific education to health professionals, because techniques can be better understood by the listener or reader when they are well illustrated. Documentation of consistent imaging of clinical diagnosis and treatment is also essential in medical-legal cases. Highquality clinical photographs along with radiographs and other medical and dental images should become an integral part of patients' medical records. Variables such as lens selection, camera position, distance, and patient's position should be understood and controlled by healthcare personnel for acquiring accurate photographs. In the case of patients with craniofacial deformities, such as cleft lip and palate, it is important to establish the standardization of photographic records because the patients' aesthetic evaluation is a fundamental clinical indicator in the deformity analysis, besides assisting the planning of patients' multidisciplinary treatment. This article aims to assist health professionals in acquiring standardized facial photographs (front, right profile, left profile, and submental oblique view) of patients with cleft lip and palate.

RESUMEN: Una documentación fotográfica estandarizada es reproducible, lo que facilita la evaluación de nuevas técnicas, la planificación del tratamiento y la comparación de resultados. La fotografía clínica es importante para impartir educación científica a los profesionales de la salud, ya que el oyente o lector puede comprender mejor las técnicas cuando están bien ilustradas. La documentación de imágenes consistentes de diagnóstico clínico y tratamiento también es esencial en casos médico-legales. Las fotografías clínicas de alta calidad junto con las radiografías y otras imágenes médicas y dentales deben convertirse en una parte integral de los registros médicos de los pacientes. El personal de atención médica debe comprender y controlar las variables como la selección de la lente, la posición de la cámara, la distancia y la posición del paciente para obtener fotografías precisas. En el caso de pacientes con deformidades craneofaciales, como labio leporino y paladar hendido, es importante establecer la estandarización de los registros fotográficos porque la evaluación estética de los pacientes es un indicador clínico fundamental en el análisis de la deformidad, además de ayudar en la planificación del tratamiento multidisciplinario del paciente. Este artículo pretende ayudar a los profesionales de la salud a adquirir fotografías faciales estandarizadas (frente, perfil derecho, perfil izquierdo y vista oblicua submental) de pacientes con labio leporino y paladar hendido.

3D comparison of dental arch stability in patients with and without cleft lip and palate after orthodontic/rehabilitative treatment

Abstract This study aimed to compare the linear dimensions of the dental arches of adult patients with complete unilateral cleft lip and palate (UCLP) after orthodontic and prosthetic treatment with fixed partial dentures (FPD) to patients without clefts, using 3D technology. This retrospective longitudinal study sample consisted of 35 subjects divided into two groups. Included in this sample were 15 complete UCLP individuals who had received orthodontic treatment before rehabilitation with a fixed partial denture (FG), as well as 20 patients without cleft as control group (CG). All patients were aged between 18 and 30 years. Digital dental casts were obtained in two stages: (T1) end of orthodontic treatment and (T2) one year after prosthetic rehabilitation (FG); and (T1) end of orthodontic treatment and (T2) one year after removal of the orthodontic appliance (CG). Intercanine, interfirst premolar and intermolar distances, and incisor-molar length were obtained. A precalibrated and trained examiner performed the assessments. Intergroup differences between T2 and T1 were compared between the groups using the t test or Mann-Whitney test with a significance level of 5% (p<0.05). The intercanine distance variation (T2-T1) showed statistical difference (p=0.005) increasing in the FG group and decreasing in the CG group. In the interfirst premolar distance variation, FG decreased, while CG increased with statistically significant difference (p=0.008). The intercanine distance of individuals with cleft showed stability, while that of the CG had no stability. The CG showed stability in the interfirst premolar distance, while FG had no stability. These findings showed that the FPD is capable of restricting orthodontic results, leading to a stabilization of the dental arches.

DNA hypermethylation of Fgf16 and Tbx22 associated with cleft palate during palatal fusion

Abstract Objective: Cleft palate (CP) is a congenital birth defect caused by the failure of palatal fusion. Little is known about the potential role of DNA methylation in the pathogenesis of CP. This study aimed to explore the potential role of DNA methylation in the mechanism of CP. Methodology: We established an all-trans retinoic acid (ATRA)-induced CP model in C57BL/6J mice and used methylation-dependent restriction enzymes (MethylRAD, FspEI) combined with high-throughput sequencing (HiSeq X Ten) to compare genome-wide DNA methylation profiles of embryonic mouse palatal tissues, between embryos from ATRA-treated vs. untreated mice, at embryonic gestation day 14.5 (E14.5) (n=3 per group). To confirm differentially methylated levels of susceptible genes, real-time quantitative PCR (qPCR) was used to correlate expression of differentially methylated genes related to CP. Results: We identified 196 differentially methylated genes, including 17,298 differentially methylated CCGG sites between ATRA-treated vs. untreated embryonic mouse palatal tissues (P<0.05, log2FC>1). The CP-related genes Fgf16 (P=0.008, log2FC=1.13) and Tbx22 (P=0.011, log2FC=1.64,) were hypermethylated. Analysis of Fgf16 and Tbx22, using Gene Ontology (GO) and the Kyoto Encyclopedia of Genes and Genomes (KEGG), identified 3 GO terms and 1 KEGG pathway functionally related to palatal fusion. The qPCR showed that changes in expression level negatively correlated with methylation levels. Conclusions: Taken together, these results suggest that hypermethylation of Fgf16 and Tbx22 is associated with decreased gene expression, which might be responsible for developmental failure of palatal fusion, eventually resulting in the formation of CP.

Three-dimensional morphometric analysis of dental arches of children with cleft lip and palate: longitudinal study / Análise morfométrica tridimensional dos arcos dentários de crianças com fissura labiopalatina: estudo longitudinal

This study aimed to present two papers that show the alterations in the dental arch dimensions of children with cleft lip and palate before and after the primary surgeries. The first study aimed to evaluate the dimensional alterations of the dental arches of neonates with unilateral complete cleft lip and palate before and after two different primary plastic surgeries. The sample was composed of 114 dental casts of 57 children, divided into two groups: Group 1 ­ 26 neonates whose lip closure was accomplished at 3 months of life by Millard´s technique and the anterior and posterior palate closure by von Langenback's technique (VL); Group 2 ­ 31 neonates whose lip closure, nose's ala correction, and anterior palate closure were accomplished of life by Millard´s technique, Mcomb's or Skoog's technique, and vomer's flap, respectively at 3 months of life; posterior palate closure was accomplished by VL at 12 months of life. The dental casts were analyzed at two phases: (T1) pre-cheiloplasty and (T2) one year after palatoplasty. The second study aimed to evaluate morphometrically and longitudinally the alterations of the dental arch dimensions of children with cleft lip and palate. The sample was composed by digital dental casts of children with complete cleft lip (Group 1), complete cleft lip and palate (Group 2), and complete cleft palate (Group 3), obtained at pre-cheiloplasty (T1), pre-palatoplasty (T2), and one year after palatoplasty (T3). The measurements of the dental arch dimensions of both studies were performed directly on the digitized models and analyzed by Appliance Designer software. The following dimensions were obtained: intercanine distance, inter-tuberosity distance, anterior arch length, and total arch length. A previously trained and calibrated examiner performed the assessments of both studies. To verify the alterations among groups, t test and ANOVA followed by Tukey was applied. In the first study, no statistically significant differences occurred at pre-cheiloplasty. At one year after palatoplasty, Group 1 had statistically significant greater anterior-posterior arch length (P=0.002) than Group 2. This suggested that the outcomes of the different surgical techniques may cause alterations in the dental arch growth and development of neonates with cleft lip and palate. In the second study, in Group 1, the distances C-C', T-T', and I-TT' were statistically greater at T2 than at T1. In Group 2, the distances C-C' and I-CC' were smaller at T3. T-T' distance decreased and I-TT' distance increased at all phases. In Group 3, the C-C', T-T', and I-TT' distances were statistically greater at T3. The intergroup comparisons showed that C-C' and T-T' distances were statistically greater in Group 1; C-C' and I-CC' distances were statistically smaller in Group 2; and I-TT' distance was statistically greater in Group 3. The longitudinal evaluation of the changes occurred in the dental arches of children with different oral cleft types showed that cheiloplasty and palatoplasty caused the most alterations in the growth and development of the maxillary dimensions of children with complete cleft lip and palate.(AU)

O propósito deste estudo foi apresentar dois artigos que mostram as alterações das dimensões dos arcos dentários de crianças com fissura labiopalatina antes e depois das cirurgias primárias. O primeiro estudo foi proposto para avaliar as alterações dimensionais dos arcos dentários de neonatos com fissura labiopalatina antes e após a realização de duas técnicas distintas de cirurgias plásticas primárias. A amostra foi composta de 114 modelos dentários em gesso de 57 crianças, divididos em dois grupos: Grupo I ­ 26 neonatos, fechamento do lábio realizado aos 3 meses de vida pela técnica de Millard e palato total aos 12 meses, pela técnica de von Langenback (VL); Grupo II ­ 31 neonatos, fechamento do lábio pela técnica de Millard aos 3 meses de vida, correção de asa nasal (técnicas de Mcomb ou Skoog) e palatoplastia anterior com retalho de vômer aos 3 meses. A palatoplastia posterior foi realizada aos 12 meses pela técnica VL. Os modelos foram analisados em 2 fases: (F1) pré-queiloplastia e (F2) 1 ano pós-palatoplastia. No segundo estudo o objetivo foi realizar uma avaliação longitudinal das alterações das dimensões dos arcos dentários de crianças com fissura labiopalatina. A amostra foi composta de modelos digitais de crianças com fissura completa de lábio (Grupo 1), completa de lábio e palato (Grupo 2), e completa de palato (Grupo 3), obtidos nas fases de pré-queiloplastia (Fase 1), pré-palatoplastia (Fase 2), 1 ano póspalatoplastia (Fase 3). As medidas das dimensões dos arcos dentários nos dois estudos foram realizadas nos modelos digitalizados e analisados utilizando software Appliance Designer. As seguintes dimensões foram obtidas: distância intercaninos, distância intertuberosidade, comprimento anterior do arco dentário e comprimento total do arco. Um avaliador previamente calibrado e treinado realizou as avaliações para os dois estudos. Foi aplicado o Teste t e a Análise de Variância, seguida do Teste de Tukey. Para o primeiro estudo não houve diferença estatisticamente significante na fase pré-queiloplastia entre os grupos. Na fase 1 ano pós-palatoplastia houve diferença para o comprimento anteroposterior do arco dentário (p=0,002), entre os grupos, com valores maiores para o grupo I. Para o segundo estudo, no Grupo 1, as distâncias C-C', T-T' e I-TT' apresentaram diferença estatisticamente significante entre a F1 e F2, com aumento na F2. Para o Grupo 2, houve diferença estatisticamente significante em todas as fases avaliadas. As distâncias C-C' e I-CC' apresentaram menor valor na F3, T-T' diminuiu em todas as fases, e I-TT' aumentou em todas as fases. No Grupo 3, as distâncias C-C', T-T' e I-TT' mostraram diferença estatisticamente significante com aumento na F3. Quando avaliadas as medidas entre os grupos e fases, C-C' e T-T' mostraram um valor maior para o Grupo 1. A comparação entre F2 e F3 mostraram para as distâncias C-C' e I-CC' valor menor para o Grupo 2, e I-TT' foi maior para o Grupo 3. As avaliações longitudinais nos arcos dentários mostraram que a queiloplastia e palatoplastia causam maiores alterações de crescimento e desenvolvimento maxilares de pacientes com fissura completa de lábio e palato.(AU)

Fisura palatina en la secuencia de Pierre Robin / Palatal cleft in Pierre Robin sequence

Entre los niños que nacen con falta de fusión de la bóveda palatina, un número determinado corresponde a recién nacidos con síndrome de Pierre Robin. Aquí se abre un abanico de pacientes con un grado variable de complejidades y anomalías. Algunos que portan otros síndromes aún más complejos, que padecen la entidad por hipoplasia mandibular, hasta otros que solo poseen una modesta micrognatia que permitió el desarrollo de la secuencia. Si bien la fi sura del paladar es una arista más dentro de anomalías que pueden ser más complejas, debe corregirse a tiempo y de manera efi caz para permitir una adecuada fonación. En este trabajo se presentan, sobre 126 fi surados tratados durante 10 años en un hospital de atención pediátrica privado en Buenos Aires, 17 casos de síndrome de Pierre Robin, así como sus características, edad, sexo, tratamiento, resultados quirúrgicos y foniátricos, y complicaciones.

Between children born with cleft palate, a number of them are newborn with Pierre Robin Syndrome. These have a variety and diff erent degrees of complexity and abnormalities. Added complex syndromes may be found aff ecting them with hypoplasia and others with a slight micrognathia that allowed the development of the sequence. Cleft palate is only one between other abnormalities, but needs and must be corrected effi ciently on time to allow proper phonation. A number of 126 cleft palate patients treated and followed during 10 years in a private childrens hospital, in Buenos Aires, are included, and between them, 17 have Pierre Robin sequence. Their age, sex, treatment, surgical results and phonetic results are included.

Avaliação das dimensões das fissuras labiopalatinas por meio de exame de imagem / Evaluation of cleft lip and palate dimesion through imaging

As fissuras lábiopalatinas consistem em anormalidades craniofaciais congênitas comuns quando comparada as demais anomalias, que podem acometer o lábio, rebordo alveolar, palatos duro e mole, resultantes da falta de nivelamento dos processos nasais mediais entre si, e destes com os processos maxilares laterais. O tratamento deve ser realizado por meio de uma equipe multidisciplinar de especialistas. Um dos meios auxiliares mais importantes no diagnóstico da malformação são os exames de imagem, como as radiografias intra e extra bucais e as tomografias computadorizadas, para uma melhor avaliação morfológica prévia das resultando em melhorias no diagnóstico, planejamento e manejo cirúrgico dos casos, prevendo melhor prognóstico e resultado final mais satisfatório. Esta pesquisa avaliou através de radiografias periapicais de fissuras transforame incisivo unilateral a dimensão das fissuras no pré-operatório e o nível de formação óssea no pós operatório de enxerto ósseo alveolar autógeno de crista ilíaca, objetivando investigar o tamanho crítico do defeito maxilar e o nível de formação óssea, levando em consideração fatores que também influenciam na previsibilidade do resultado como a idade, presença do canino não irrompido e a ortodontia pós enxerto, para que se possa oferecer condutas terapêuticas mais adequadas. Pacientes com menos de 16 anos de idade tem seis vezes mais chances para formação de um septo ósseo intermediário com altura próximo do normal. Resultados favoráveis também foram encontrados nos casos em que o canino não havia irrompido, com 16 vezes maior a capacidade de preenchimento ósseo do defeito em até 75%. Indivíduos com início da ortodontia no período ideal, 60 a 90 dias depois do enxerto ósseo, apresentaram uma formação óssea do tipo I e II com mais de 50% de formação óssea no defeito. A altura, largura apical e o gênero da fissura alveolar são fatores que não influenciam na formação óssea.(AU)

Cleft lip and palate are common congenital craniofacial abnormalities in comparison with other anomalies. They may affect the lip, alveolar ridge and the soft and hard palate resulting from the lack of leveling of the medial nasal processes between themselves and the lateral maxilla process. The etiology is well defined: heredity involving genetic and environmental processes with a worldwide incidence of 1:700 births. The treatment should be performed by a multidisciplinary team of experts.. One of the most important exams to support the malformation diagnosis are imaging exams, such as intra/extra oral radiographs and computed tomography because they may help in pre-surgical measuring, resulting in improvement in planning and surgical management, thereby providing a good prognosis and outcome. The present research will evaluate the cleft size in the preoperative period and the bony formation after autogenous alveolar bone graft surgery of the iliac crest through periapical radiographs. The main objective is to investigate the critical size of the maxillary defect and the level of bony formation, considering factors that could also affect the final result, such as age, presence of retained canine after orthodontic grafting treatment, and finally, to suggest standard therapeutic approaches. Patients younger than 16 years old has 6 six time more chances to form a intermediary bony septum, with a height close to normal. Good results also were found in cases of unerupted canine, with bony defect filling increased until 16 times in 75%. Patients with orthodontics treatment started in the ideal period (60-90 days after bone grafting), presented a Type I and II bone formation, with more than 50% of bone defect repaired. In conclusion, the height, width and type of alveolar fissure are factors that not influenced in bone formation.(AU)

Three-dimensional assessment of maxillary protraction with miniplates in patients with cleft lip and palate / Avaliação tridimensional da protração ortopédica da maxila com miniplacas em pacientes com fissura labiopalatina

The aim of this study was to assess maxillary, mandibular and glenoid fossa changes after bone anchored maxillary protraction (BAMP) therapy in patients with unilateral complete cleft lip and palate (UCLP). Methods: The experimental group comprised 24 patients with UCLP and maxillary sagittal deficiency with a mean initial age of 11.8 years. Cone-beam computed tomography (CBCT) exams of 24 patients with UCLP taken before (T1) and 18 months (T1) after beginning BAMP therapy were selected from the files of the Hospital of Rehabilitation of Craniofacial Anomalies. CBCTs were superimposed at the cranial base. Three-dimensional displacements of landmarks placed in surface models were quantified and visualized in color-coded maps and semi-transparency superimpositions. Kolmogorov-smirnov test was used to calculate distribution of normality. Paired t test was used to compare cleft and non-cleft sides (p<0.05). Results: A point and non-cleft central incisor displaced toward anterior (1.66mm), inferior (1.21mm) and to the cleft side. Orbitale, Infraorbitale foramen and maxillary first permanent molar displaced similarly toward anterior, inferior and medial direction. The zygoma displaced similarly toward anterior and inferior, however the cleft side showed a significantly greater lateral displacement compared to the non-cleft side. The superior concavity of the glenoid fossa showed symmetrical displacement toward anterior, lateral and superior, while the anterior and posterior eminences showed symmetrical displacements toward anterior, lateral and inferior. The mandible showed an overall symmetrical inferior and posterior displacement except for the medial pole of the condyle, which showed a significantly greater lateral displacement on the cleft side. Conclusions: Maxilla showed an anterior and inferior displacement. The glenoid fossa and the overall mandible symmetrically displaced downward and backward. The zygoma of the cleft side was the only maxillary landmark to show significantly greater lateral displacement than the non-cleft side, as well as the medial pole of the condyle on the cleft side.(AU)

O objetivo deste trabalho foi avaliar as alterações da maxila, mandíbula e fossa glenóide após o tratamento com protração maxilar ancorada em osso (BAMP) em pacientes com fissura unilateral completa de lábio e palato (UCLP). Métodos: o grupo experimental foi composto por 24 pacientes com UCLP e deficiência sagital de maxila com idade inicial de 11,8 anos. Foram selecionados exames de tomografia computadorizada de feixe cônico (CBCT) de 24 pacientes com fissura UCLP realizadas antes e após 18 meses de terapia com BAMP pertencentes ao Hospital de Reabilitação de Anomalias Craniofaciais. Os exames de CBCT foram sobrepostos pela base do crânio. Deslocamentos tridimensionais foram mensurados por meio de pontos colocados em modelos de superfície, bem como foram visualizados em mapas coloridos e sobreposições de semi-transparência. A distribuição de normalidade foi calculada por meio do teste de Kolmogorov-Smirnov. A comparação entre os lados com e sem fissura foi realizada por meio do teste t pareado (p<0.05). Resultados: O ponto A e o incisivo central superior do lado sem fissura deslocaram para anterior (1.66mm), inferior (1.21mm) e para o lado da fissura. Os pontos Orbitário, Forame Infra-orbitário e os primeiros molares permanentes superiores se deslocaram simetricamente para anterior, inferior e medial. O ponto Zigomático deslocou simetricamente para anterior e inferior, porém o lado da fissura apresentou um deslocamento significantemente maior para lateral comparado ao lado sem fissura. A concavidade superior da fossa glenóide apresentou um deslocamento simétrico para anterior, lateral e superior. As eminências anterior e posterior da fossa glenóide apresentaram um deslocamento simétrico para anterior, lateral e inferior. No geral, não houve diferença estatisticamente significante entre os lados com e sem fissura para o deslocamente inferior e posterior da mandíbula. O polo medial do côndilo foi o único ponto em que o lado da fissura apresentou um deslocamento significantemente maior para lateral quando comparado ao lado sem fissura. Conclusões: A maxila mostrou um deslocamento simétrico para anterior e inferior. A fossa glenóide e a mandíbula mostraram um deslocamento simétrico para inferior e para trás. Entretanto, os pontos zigomático e polo medial apresentaram um deslocamento lateral significantemente maior no lado da fissura.(AU)

Cráneo en trébol y fisura facial bilateral / Cloverleaf skull and bilateral facial clefts

Introducción: El síndrome del cráneo en trébol, o síndrome de Kleeblattschädel, es una malformación rara en la cual el cráneo presenta un aspecto de trébol. Es causado por el cierre prematuro de varias suturas, evidenciándose desde antes del nacimiento. Objetivo: presentar nuestra experiencia en un caso de síndrome del cráneo en trébol, y actualizar la información de la literatura. Caso clínico: lactante de sexo femenino, 5 meses de edad, diagnósticos al nacimiento de Fisura labio-Palatina e Hidrocefalia. A los 30 días de vida se instaló válvula ventrículo peritoneal, y se procedió a enucleación ocular bilateral por proceso infeccioso. Se controla en Genética donde se confirma macrocefalia y craneosinostosis tipo cráneo en trébol. El estudio citogenético 46XX, Ecocardiografía normal, TAC de cerebro mostró anomalias múltiples asociadas a hidrocefalia y malformaciones inespecíficas. Conclusión: El cráneo en trébol puede presentarse aisladamente o asociado a otras anomalías congénitas, conformando varios síndromes de craneosinostosis, como Crouzon, Pfeiffer o Carpenter. También puede ser componente de la secuencia de rotura amniótica o de diversas displasias, como la campomélica, tanatofórica tipo ii, o la distrofia torácica asfixiante de Jeune. El caso descrito no cumple con todas las características necesarias para incluirlo dentro de un síndrome específico, y no habiendo antecedentes familiares que sugieran patrón de herencia ni anomalías cromosómicas se concluye que se trata de un caso de anomalías congénitas de presentación esporádica.

Introduction: Cloverleaf skull syndrome, or Kleeblattschädel syndrome, is a rare malformation in which the skull has a cloverleaf appearance. It is caused by the premature closure of several sutures, being evident before birth. Objective: To present our experience in a case of cloverleaf skull syndrome, and update the information from the literature. Clinical case: A female infant of 5 months of age, diagnosed at birth with cleft lip and palate and hydrocephaly. A peritoneal ventricle valve was implanted at 30 days of life, and an ocular enucleation was performed due to an infectious process. The patient was followed-up in Genetics, where it confirmed a macrocephaly and craniosynostosis type cloverleaf skull. The 46XX cytogenetic study and echocardiography were normal. The brain CT scan showed multiple anomalies associated with hydrocephaly and non-specific malformations. Conclusion: Cloverleaf skull may be present in isolated form or associated with other congenital abnormalities, leading to various craniosynostosis syndromes, such as Crouzon, Pfeiffer or Carpenter. It may also be a component of the amniotic rupture sequence or to different dysplasias, such as campomelic dysplasia, thanatophoric dysplasia type 2, or the asphyxiating thoracic dystrophy of Jeune. The case presented does not fulfil all the characteristics needed to be included within a specific syndrome, and on not having a family history that suggests a hereditary pattern or chromosome abnormalities, it is concluded that it is a case of a congenital anomaly of sporadic presentation.

Frequency of ponticulus posticus, sella turcica bridge and clinoid enlargement in cleft lip and palate peruvian patients: a comparative study with non-cleft patients / Frecuencia de ponticulus posticus, puente selar y alargamiento clinoideo en pacientes peruanos con labio y paladar fisurado: un estudio comparativo con pacientes no-fisurados

The aims of this study were to determine the frequency of the Ponticulus posticus (PP) in the C1 vertebra and the Sella Turcica Bridge (STB) and Clinoid enlargement (CLEN) variants in two samples of Peruvian cleft lip and palate patients (CLP), determine if there are significant differences between sexes and compare the results with two samples of non-cleft controls. The digital images of the lateral cephalometric radiography of 163 and 150 CLP patients were utilized to determine the frequency of PP and, STB-CLEN respectively. The controls were composed of 1056 and 417 radiography of non-cleft patients. The chi-square statistic was utilized to determine if there were significant differences between genres for the CLP patients, and between the CLP and control samples. The confidence level was set at p<0.05. The frequency of PP (partial and complete) in CLP patients was 11.04% (18 cases) and 6.13% (10 cases) respectively; both of them were more frequent in males and there were no significant differences between sexes and between the CLP and control groups (p>0.05). The frequency of STB and CLEN in CLP patients was 6% (9 cases) and 8.7% (13 cases) respectively; both of them were more frequent in males and there were no significant differences between sexes and between the CLP and control samples for the STB (p>0.05). The frequency of CLEN was significantly lower (p<0.05) in the cleft group and in the female cleft group when compared to the control group. The frequencies of the Ponticulus Posticus, Sella Turcica Bridge and Clinoid Enlargement were similar to the control group and should not be considered as Cleft Lip and Palate associated anomalies; the frequency of the Clinoid Enlargement was significantly lower in cleft patients and this could be confirmed through studies centered on the Clinoid apophysis.

Los objetivos del estudio fueron determinar la frecuencia del Ponticulus Posticus (PP) y Puente selar - Alargamiento clinoideo (PS­AC) en dos muestras de pacientes Peruanos con fisura labiopalatina, junto con determinar si hay diferencias significativas entre sexos y comparar los resultados con dos muestras de controles sin fisura labiopalatina. Imágenes de radiografías cefalométricas laterales fueron utilizadas para determinar la frecuencia de PP (n= 163) y PS­AC (n=150). Los controles estuvieron conformados por 1056 y 417 radiografías de pacientes sin fisura labiopalatina. La prueba chi-cuadrado fue utilizada para determinar si existen diferencias significativas entre los sexos de los pacientes con fisura labiopalatina, y también entre las muestras de fisura labiopalatina y los controles. El nivel de confianza se determinó en p<0,05. En pacientes con fisura labiopalatina, la frecuencia de PP (parcial y completo) fue de 11,04% y 6,13% respectivamente; fue más frecuente en hombres y no se encontraron diferencias significativas entre sexos y entre la comparación entre muestras (p>0,05). La frecuencia de PS y AC fue de 6% y 8,7%, respectivamente; ambos fueron más frecuentes en hombres y no se encontraron diferencias significativas entre sexos; no se encontró diferencias significativas entre las muestras de fisura labiopalatina y los controles en el caso del PS. La frecuencia de AC fue significativamente menor en el grupo de fisura labiopalatina y en las mujeres con fisura labiopalatina respecto a la población sin fisura labiopalatina (p<0,05). Las frecuencias de PP y PS fueron similares a las del grupo control y no deberían ser consideradas como anomalías asociadas a la fisura labiopalatina; la frecuencia del AC fue significativamente menor en pacientes con fisura labiopalatina, y tampoco debería considerarse como una anomalía asociada; este hallazgo podría ser confirmado en futuros estudios centrados en las apófisis clinoides.

Three-dimensional Digital Evaluation of Dental Arches in Infants with Cleft Lip and/or Palate

The aim of this study was to measure and compare the dimensions of the dental arches on three-dimensional digital study models in children with and without cleft lip and palate before the primary surgery. The sample consisted of 223 digital models of children aged 3-9 months, divided into 5 groups: without craniofacial deformities, unilateral and bilateral incomplete cleft lip and alveolus, unilateral and bilateral complete cleft lip and alveolus, unilateral cleft lip and palate, and bilateral cleft lip and palate. Dental casts of the maxillary dental arches of the children were used. The dental casts underwent a process of scanning through 3D scanner and the measurements used for the correlation among groups were made on the scanned images. Statistical analysis was performed by t test and ANOVA followed by Tukey test. The results showed that the intercanine distance and anterior cleft width was wider in children with unilateral cleft lip and palate. The intertuberosity distances and posterior cleft width was wider in children with bilateral cleft lip and palate among the groups. Children with cleft lip and palate before the primary surgery had wider maxillary arch dimensions than the children without cleft lip and palate.

O propósito deste trabalho foi mensurar e comparar as dimensões dos arcos dentários em modelos digitais tridimensionais de crianças com ou sem fissuras de lábio e palato antes das cirurgias primárias. A amostra foi composta de 223 modelos de gesso de crianças, de 3 a 9 meses, divididas em 5 grupos: sem deformidades craniofaciais, fissura pré-forame incompleta, fissura pré-forame completa, fissura transforame unilateral e fissura transforame bilateral. Modelos de gesso dos arcos dentários superiores das crianças foram utilizados para avaliação. Os modelos passaram por um processo de digitalização, por meio de escâner 3D e as medidas utilizadas para a correlação entre os grupos foram realizadas diretamente nas imagens escaneadas. A análise estatística foi realizada por meio do teste t e ANOVA seguido pelo teste de Tukey. Os resultados mostraram que a distância intercaninos e a amplitude anterior da fissura foram maiores nas crianças com fissura transforame unilateral. A distância intertuberosidades e a amplitude posterior da fissura foi maior nas com fissura transforame bilateral entre os grupos estudados. As crianças com fissura de lábio e palato apresentam as dimensões dos arcos maxilares maiores que as crianças sem fissura labiopalatina antes das cirurgias primárias.

IRF6, RYK, and PAX9 expression in facial tissue of children with cleft palate / Expresión de IRF6, RYK y PAX9 en el tejido facial de niños con paladar fisurado

Cleft lip and palate (CLP) is a congenital anomaly characterized by the inappropriate fusion of the upper lip, alveolus, and secondary palate. This study investigated whether expression of interferon regulatory fac tor 6 (IRF6), receptor-like tyrosine kinase (RYK), and paired-box 9 (PAX9), which are essential for the normal development and morphogenesis of craniofacial structures, is dysregulated in children with CLP. Oral mucosa tissue samples were obtained from patients with complete bilateral (CB) CLP (n= 19) during corrective plastic surgery and unaffected control subjects (n= 7). IRF6, RYK, and PAX9 expression was assessed by immunohistochemistry, and data were analyzed with the Mann-Whitney test. In patients, IRF6 immunoreactivity in the connective tissue was moderate to high, but the overall number of IRF6-positive oral epithelial cells was lower than that in controls (z= -3.41; P= 0.01). RYK expression was observed only sporadically in the oral epithelium of 4 patients, in contrast to the control group (z= -3.75; P< 0.001). PAX9-positive epithelial cells were present in low to moderate numbers in patients with CBCLP, while an abundance of these cells was observed in the basal layer of the oral epithelium in controls (z= -3.60; P<0.001). IRF6 is the main connective tissue regulatory factor in CBCLP, and its low level of expression in the oral epithelium suggests a reduced potential for epitheliocyte differentiation, while low PAX9 and RYK expression may explain the decreased cell migration and cleft remodeling in CBCLP.

La fisura labial y palatina (FLP) son anomalías congénitas caracterizadas por la fusión inadecuada del labio superior, alvéolo y paladar secundario. En este estudio se investigó si en niños con FLP hay una desregulación de la expresión del factor regulador de interferón 6 (IRF6), del receptor de la tirosina quinasa (RYK), y del factor de transcripción PAX9, que son esenciales para el desarrollo normal y la morfogénesis de las estructuras craneofaciales. Se obtuvieron muestras de la mucosa oral de pacientes con FLP completa bilateral (CB) (n= 19), tomadas durante la realización de cirugía plástica correctiva, y de sujetos de control no afectados (n= 7). Se evaluó la expresión de IRF6, RYK y PAX9 por inmunohistoquímica, y los datos se analizaron con la prueba de Mann-Whitney. En los pacientes, la inmunoreactividad de IRF6 en el tejido conectivo fue de moderada a alta, pero el número total de células epiteliales orales positivas para IRF6 fue menor que en los controles (z= -3,41; P= 0,01). La expresión de RYK se observó sólo esporádicamente en el epitelio oral de 4 pacientes, en contraste con el grupo control (z= -3,75; P<0.001). Células epiteliales positivas para PAX9 estaban presentes en números bajos a moderados en pacientes con FLP completa bilateral, mientras que se observó una abundante cantidad de estas células en la capa basal del epitelio oral en los controles (z= -3,60; P<0,001). IRF6 es el principal factor regulador del tejido conectivo con FLP completa bilateral, y su bajo nivel de expresión en el epitelio oral sugiere un potencial reducido para la diferenciación del epitelio, mientras que la expresión baja de PAX9 y RYK pueden explicar la disminución de la migración celular y la remodelación de la fisura con FLP completa bilateral.

Avaliação da relação entre as raízes dos dentes posteriores e o assoalho do seio maxilar em pessoas sem e com fissura labiopalatina / Relationship evaluation between the posterior teeth roots and the maxillary sinus floor in patients with and without cleft lip and palate

O seio maxilar apresenta formato distinto e volume variável entre as pessoas e seu assoalho pode ser encontrado em íntimo contato com as raízes dos dentes posteriores, podendo haver protrusão dessas raízes em seu interior. Tal proximidade é de grande relevância frente aos casos de comunicação bucossinusal em potencial ou pela possibilidade de desenvolvimento de um quadro infeccioso de origem odontogênica, em que esse pode vir a se estender para o interior do seio maxilar. Existe uma ausência de trabalhos na literatura acerca da relação estabelecida entre dentes posteriores e o seio maxilar em pessoas com fissura labiopalatina. O objetivo do presente estudo foi identificar e comparar a relação entre o assoalho do seio maxilar e os ápices radiculares dos dentes posteriores em imagens de tomografia computadorizada de feixe cônico em pessoas sem fissura labiopalatina e com fissura transforame incisivo unilateral e bilateral. Foram avaliados 100 indivíduos sem anomalias craniofaciais e 112 com fissura transforame incisivo unilateral ou bilateral, não sindrômicos, utilizando o programa i-CAT® Vision, onde a relação estabelecida pelas estruturas foi convencionada sendo, tipo 0 ou ausência de contato entre as estruturas, tipo 1 ou relação de íntimo contato entre as estruturas sem protrusão radicular no interior do seio maxilar e tipo 2 ou relação de íntimo contato entre as estruturas com protrusão radicular no interior do seio maxilar. Foi utilizado o teste do qui-quadrado para comparar os achados entre os grupos estudados, considerando valor estatisticamente significante quando p≤ 0,05. Foi avaliada a relação do assoalho do seio maxilar com 1679 dentes, totalizando 3664 raízes onde 1883 (51,3%) foram classificadas como tipo 0, 1456 (39,7%) tipo 1 e 325 (8,8%) do tipo 2. Houve diferença estatisticamente significante para a raiz palatina do dente 18 entre os grupos com fissura unilateral e bilateral (p = 0,011), para a raiz mesiovestibular do dente 18...

The maxillary sinus has a remarkable feature and a variable volume among people where the inferior wall may be found in an intimate relation with the posterior teeth roots protruding or not inside the antrum. This proximity is of great relevance considering a potential oroantral communication or the spreading of an odontogenic infection into the maxillary sinus. There is a lack of evidence into the literature regarding the relationship between posterior teeth roots and the maxillary sinus in non-syndromic complete cleft lip and palate patients. This study aimed to evaluate and compare cone beam computed tomography images regarding the relationship between the posterior teeth roots and the maxillary sinus floor in non-cleft lip and palate patients and non-syndromic complete unilateral and bilateral cleft lip and palate patients. Images were interpreted using the i-CAT® Vision software including 100 noncleft patients and 112 presenting non-syndromic complete unilateral and bilateral cleft lip and palate. The relationship between teeth roots and the maxillary sinus floor was established as type 0 or no contact between these structures, type 1 or close contact without root protrusion into the sinus and type 2 or close contact with root protrusion into the sinus. The chi-square test, considering a statistically significant value where p≤0,05, was used to compare data between different groups. The sample included 1679 teeth and 3664 roots where 1883 (51,3%) were classified as type 0, 1456 (39,7%) as type 1 and 325 (8,8%) as type 2. There were statistically significant differences for tooth 18 palatine root between both complete cleft lip and palate groups (p = 0,011), for tooth 18 mesiobuccal root between noncleft and the bilateral groups (p = 0,046) and between both complete cleft lip and palate groups (p = 0,016) and for tooth 24 buccal root between non-cleft and the bilateral group (p = 0,001). Complete unilateral and bilateral cleft lip and palate...

Fechamento de fístula oronasal com retalho miomucoso labial superior / Closure of an oronasal fistula with a myomucosal upper lip flap

INTRODUÇÃO: A fístula palatina é a complicação mais frequente após palatoplastias e sua presença traz diversas implicações. Sua apresentação é diversificada e seu reparo pode ser difícil, o que se traduz na existência de uma diversidade de técnicas cirúrgicas descritas. OBJETIVO: Relatar a correção cirúrgica de fístula palatina anterior com retalho miomucoso labial superior, além de fazer uma breve revisão da literatura. RELATO DE CASO: Paciente submetido à correção de fissura palatina completa, apresentando, no pós-operatório mediato, fístula anterior de palato duro e processo alveolar, submetido à correção da fístula palatina oronasal com retalho miomucoso de lábio superior. O paciente evoluiu satisfatoriamente, sem complicações e sem recidiva da lesão após um ano de seguimento. CONCLUSÃO: A técnica em questão mostrou-se simples e eficiente, prestando-se à correção da fístula palatal anterior.

INTRODUCTION: Palatal fistula is the most common complication after palatoplasty, and its presence entails various implications. Its presentation is diverse and repair can be difficult, which is reflected in the existence of a numerous surgical techniques described for its treatment. OBJECTIVE: To report the surgical correction of palatal fistula with a myomucosal upper lip flap, along with a brief review of the literature. CASE REPORT: The patient underwent repair of complete cleft palate. At the immediate postoperative time, an anterior fistula of the hard palate and alveolar process was present and was subjected to a correction with an oronasal myomucosal upper lip flap. The patient progressed satisfactorily, without complications or lesion recurrence after 1 year of follow-up. CONCLUSION: The technique presented is a simple and efficient method for correction of an anterior palatal fistula.

Transverse effect of Haas and Hyrax appliances on the upper dental arch in patients with unilateral complete cleft lip and palate: A comparative study

Objective: The aim of the present study was to evaluate the transverse effect of rapid maxillary expansion in patients with unilateral complete cleft lip and palate while comparing the Haas and Hyrax appliances. Methods: The sample consisted of 48 patients divided into two groups: Group I - 25 patients treated with modified Haas appliance (mean age: 10 years 8 months); and Group II - 23 patients treated with Hyrax appliance (mean age: 10 years 6 months). Casts were taken during pre-expansion and after removal of the appliance at the end of the retention period. The models were scanned with the aid of the 3 Shape R700 3D scanner. Initial and final transverse distances were measured at cusp tips and cervical-palatal points of maxillary teeth by using the Ortho Analyzer(tm) 3D software. Results: The mean expansion obtained between cusp tips and cervical-palatal points for inter-canine width was 4.80 mm and 4.35 mm with the Haas appliance and 5.91 mm and 5.91 mm with the Hyrax appliance. As for first premolars or first deciduous molars, the values obtained were 6.46 mm and 5.90 mm in the Haas group and 7.11 mm and 6.65 mm in the Hyrax group. With regard to first molars, values were 6.11 mm and 5.24 mm in the Haas group and 7.55 mm and 6.31 mm in the Hyrax group. Conclusion: Rapid maxillary expansion significantly increased the transverse dimensions of the upper dental arch in patients with cleft palate, with no significant differences between the Hass and Hyrax expanders. .

Objetivo: avaliar o efeito transversal na arcada dentária superior do procedimento de expansão rápida da maxila em pacientes com fissura transforame incisivo Aunilateral, comparando os expansores tipo Haas modificado e de Hyrax. Métodos: a amostra constou de 48 pacientes divididos em dois grupos: grupo I, 25 pacientes que utilizaram o aparelho expansor tipo Haas modificado, com média de idade de 10 anos e 8 meses; e grupo II, 23 pacientes que utilizaram o Hyrax, com média de idade de 10 anos e 6 meses. Modelos de gesso foram realizados na fase pré-expansão e após 6 meses de contenção, após a remoção do aparelho. Os modelos foram digitalizados com auxílio do scanner 3Shape R700 3D e as distâncias transversais iniciais e finais foram medidas entre as pontas de cúspides e pontos cervicopalatinos de dentes superiores pelo método digital no software OrthoAnalyserT 3D. Resultados: a média de expansão obtida entre as pontas de cúspides e entre os pontos cervicopalatinos, respectivamente, para a distância intercaninos, foi de 4,80mm e 4,35mm para o Haas e de 5,91mm e 5,91mm para o Hyrax; 6,46mm e 5,90mm para os primeiros molares decíduos ou primeiros pré-molares no grupo Haas, 7,11mm e 6,65mm no grupo Hyrax; e 6,11mm e 5,24mm para os primeiros molares no grupo Haas e 7,55mm e 6,31mm no grupo Hyrax. Conclusão: o procedimento de expansão rápida da maxila produziu aumentos significativos das dimensões transversais da arcada dentária superior em pacientes com fissura, sem diferenças significativas entre os expansores Haas modificado e Hyrax. .

Syndrome in Question

Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent clinical complications. We describe the case of a four-month old male patient with erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears, micropenis, cleft palate, decreased eyebrow and eyelash hairs, in addition to antecedents of surgical correction of ankyloblepharon. The importance of the correct diagnosis is emphasized, besides the investigation of the associated diseases, treatment of complications and genetic counseling of the parents.