Displasia frontonasal / Frontonasal dysplasia

Los trastornos del desarrollo son aquellos padecimientos que se manifiestan por defectos en la embriogénesis de la región afectada. La cara del ser humano comienza su formación alrededor de la cuarta semana de vida intrauterina y se manifiesta gracias a la fusión de cinco prominencias: dos pares conocidas como maxilar y mandibular, y una impar conocida como frontonasal. Cuando esta fusión no se lleva a cabo de una forma óptima, aparecen numerosas alteraciones del desarrollo como el labio y paladar hendido, y la displasia frontonasal. La displasia frontonasal produce frecuentemente afecciones oculares, nasales y orales. Dentro de las manifestaciones orales destacan una forma atípica de hendidura labial o palatina, afecciones dentales y alteraciones en el crecimiento de la cara. Dada la gran relación que este padecimiento tiene con la cavidad oral resulta importante que el odontólogo conozca la etiología y las características clínicas de este trastorno (AU)

Developmental disorders are those conditions that are manifested by defects in the embryogenesis of the affected region. The human face begins its formation around the fourth week of intrauterine life and is manifested thanks to the fusion of five prominences: two pairs known as maxillary and mandibular and odd one known as frontonasal. When this fusion is not carried out in an optimal way, numerous developmental alterations appear, such as cleft lip and palate and frontonasal dysplasia. Frontonasal dysplasia frequently produces ocular, nasal and oral affections. Among the oral manifestations, and atypical form of clef lip and/or palate, dental affections and alterations in the growth of the face stand out. Given the great relationship that this condition has with the oral cavity, it is important for the dentist to know the etiology and clinical characteristics of this disorder (AU)

Higher maternal age is associated with higher occurrence of cleft lip/palate in neonates under intensive care

Aim: To assess the prevalence of cleft lip and/or cleft palate (CL/P) and associated variables in neonates admitted to neonatal intensive care units (ICU). Methods: Medical charts for neonates born and admitted to the ICU between 2012 and 2018 were reviewed. Obstetric and neonatal variables were collected by a trained researcher. In the case group, all neonates with CL/P were included. The control group was formed by matching sex, prematurity and month of birth using random number generation. Neonates with congenital malformations were excluded from the control group. Adjusted logistic regression was used (p<0.05). Results: The prevalence of CL/P was 0.43% (n=15). Five cases were excluded, as pairing was not possible. Twenty neonates were included in the control group. In the final multivariate model, CL/P was only associated with increased maternal age. For each year of increase in maternal age, neonates had a 35.2% higher chance of presenting CL/P (95% confidence interval: 1.021­1.792). Conclusions: Higher maternal age was associated with higher occurrence of CL/P in neonates admitted to the ICU. No other neonatal or maternal independent variables were associated with CL/P. Due to missing data, interpretation of study results must be approached with caution

Vírus e fissuras orofaciais: um histórico isolado e de associação / Viruses and orofacial clefts: an isolated and associational history / Virus y fisuras orofaciales: una historia aislada y asociativa

Os vírus são microrganismos comumente associados as doenças e infectam todos os seres vivos. Atuam de forma direta e indireta levando a pressão seletiva, com papel significativo e ainda em exploração no planeta. As fissuras orofaciais são anomalias congênitas de etiologia complexa e multifatorial, sendo as infecções virais durante a gestação um dos possíveis fatores etiológicos. A história da humanidade frente aos vírus e fissuras orofaciais de forma isolada é vasta, remontando a períodos antes de Cristo, seja por meio de leis para o controle de pragas e/ou por lendas de míticas criaturas deificadas e/ou demonizadas, cuja criação está fundamentada na Teoria Alegórica do surgimento das mitologias, demonstrando assim o interesse do ser humano e sua curiosidade em inovação e explicação destes assuntos. Considerando a relevância histórica, bem como a possível relação etiológica destes dois elementos, uma revisão da literatura foi realizada para apresentar a história mitológica e científica dos vírus e fissuras orofaciais, de forma isolada e associadas para fins de comparação. Para isso, foram utilizadas as bases PubMed/Medline, SciElo, LILACS e Portal Periódicos (CAPES) com os descritores: Virus, Anomalias/Anomalies, Virus and Anomalias/Virus and Anomalies, A History of viruses/História dos vírus, Virus and History/História and Virus, Virus and Myth/Virus and Mito, Anomalias and Mitos/Anomalies and Myths, Vampires and Virus/Vampiros and Virus. Enquanto o histórico mitológico é cheio de teorias contraditórias, o histórico cientifico acadêmico se revela coerente, porém resistente as novas áreas de atuação, não ponderando novas possibilidades e limitando a exploração científica, que só pôde ser alcançada nos séculos atuais. Quanto a associação, a linha de pesquisa relacionando vírus e fissuras orofaciais não possui nem meio século de existência, propiciando um grande campo a ser explorado e na mesma medida limitando os benefícios em prevenção que poderiam ser obtidos através destes estudos.

Viruses are microorganisms commonly associated with diseases that infect all living beings, they act directly and indirectly leading to selective pressure, their role on the planet is significant and still under exploration. Orofacial clefts are congenital anomalies that have a complex multifactorial etiology, with viral infections during pregnancy being one of the possible etiological factors. The history of humanity in the face of viruses and orofacial clefts in isolation is vast, dating back to periods before Christ, whether through laws for pest control and/or legends of mythical deified and/or demonized creatures, whose creation is fundamentalized in the Allegorical Theory of the emergence of mythologies, thus demonstrating the interest of human beings and their curiosity in innovation and explanation of these subjects. Considering the historical relevance, as well as the possible etiology relationship of these two elements, we carried out a literature review to present the mythological and scientific history of viruses and orofacial clefts, isolated and associated for comparison purposes. For this intent, the bases PubMed/Medline, SciElo, LILACS and Portal Periódicos (CAPES) were selected with the descriptors: A History of viruses/História dos vírus, Virus and History/História and Virus, Virus and Myth/Virus and Mito, Anomalias and Mitos/Anomalies and Myths, Vampires and Virus/Vampiros and Virus. While the mythological history is full of contradictory theories, the academic, scientific history proves to be consistent, but resistant to new areas of action, not considering new possibilities and limiting scientific exploration, which can only be achieved in the present centuries. As for the association, the line of research relating viruses and orofacial clefts does not even have half a century of existence, providing a large field to be explored and at the same time limiting the benefits of prevention that could be obtained through these studies.

Los virus son microorganismos comúnmente asociados a enfermedades que infectan a todos los seres vivos, actúan directa e indirectamente provocando presión selectiva, su papel en el planeta es significativo y aún en exploración. Las hendiduras orofaciales son anomalías congénitas que tienen una compleja etiología multifactorial, siendo las infecciones virales durante el embarazo uno de los posibles factores etiológicos. La historia de la humanidad frente a los virus y las hendiduras orofaciales de forma aislada es vasta, remontándose a períodos anteriores a Cristo, ya sea a través de leyes para el control de plagas y/o leyendas de criaturas míticas deificadas y/o demonizadas, cuya creación se fundamentaliza en la Teoría Alegórica del surgimiento de las mitologías, demostrando así el interés del ser humano y su curiosidad en la innovación y explicación de estos temas. Considerando la relevancia histórica, así como la posible relación etiológica de estos dos elementos, realizamos una revisión bibliográfica para presentar la historia mitológica y científica de los virus y las hendiduras orofaciales, aislados y asociados para fines de comparación. Para ello, se seleccionaron las bases PubMed/Medline, SciElo, LILACS y Portal Periódicos (CAPES) con los descriptores: A History of viruses/História dos vírus, Virus and History/História and Virus, Virus and Myth/Virus and Mito, Anomalias and Mitos/Anomalías y Mitos, Vampiros and Virus/Vampiros y Virus. Mientras que la historia mitológica está llena de teorías contradictorias, la historia académica, científica, se muestra coherente, pero resistente a nuevos campos de actuación, no considerando nuevas posibilidades y limitando la exploración científica, que sólo puede alcanzarse en los siglos actuales. En cuanto a la asociación, la línea de investigación que relaciona virus y hendiduras orofaciales no tiene ni medio siglo de existencia, proporcionando un gran campo a ser explorado y al mismo tiempo limitando los beneficios de prevención que podrían ser obtenidos a través de estos estudios.

Agenesia e fatores associados em pacientes portadores de fissura labiopalatina: uma revisão de literatura / Agenesis and associated factors in patients with cleft lip and palate: a review of the literature

Objetivo: verificar as principais agenesias dentárias e os fatores associados em portadores de fissura labiopalatina por meio de uma revisão de literatura. Métodos: foi realizada uma revisão de literatura utilizando as bases de dados PubMed, SciELO e Google Acadêmico. Revisão de literatura: foram incluídos 34 artigos, sendo 2 casos clínicos, 15 estudos retrospectivos, 10 revisões de literatura, 4 estudos de caso-controle e 5 estudos transversais; além de 3 referências escolhidas através de outras buscas para complementar a revisão. A partir dos estudos incluídos no trabalho, foi possível verificar que a maior prevalência ocorre no sexo masculino. E a fissura que mais acomete a população é a transforame incisivo. Pôde-se analisar também que não há causa exata, porém, existem fatores predisponentes, como os ambientais e os hereditários. Considerações finais: esta revisão de literatura poderá auxiliar os profissionais de saúde para a realização de diagnóstico e planejamento precoces, a fim de encontrar o melhor e mais eficiente tratamento para cada caso. O tratamento precoce, por uma equipe multidisciplinar, certamente garantirá uma melhor qualidade de vida aos pacientes.(AU)

Objective: to verify the main dental agenesis and associated factors in cleft lip and palate through a literature review. Methods: a literature review was carried out using PubMed, SciELO and Google Scholar databases. Literature review: 34 studies were included, 2 clinical studies, 1 retrospective study, 10 literature reviews, 4 case-control studies and 5 cross-sectional studies. In addition to 3 references chosen through other searches complementary to the review. From the included studies, it was verified a higher frequency of cleft lift and palate for the male sex, and a higher frequency of more severe clefts, such as the incisive transformation, in comparison to the labiopalatine. It can also be analyzed that there is no exact cause; however, there are environmental and hereditary predisposing factors. Final considerations: this literature review may help health professionals to carry out early diagnosis and treatment planning, in order to find the best and most efficient treatment for each case. Early treatment by a multidisciplinary team will certainly guarantee a better quality of life for patients.(AU)

Evaluación de guías de manejo para pacientes con labio y/o paladar hendido / Evaluation of management guidelines for cleft lip and/or palate patients

RESUMEN Introducción: Los defectos del desarrollo se deben a malformaciones congénitas, deformaciones o disrupciones. Las fisuras de labio y/o paladar son deficiencias estructurales congénitas debidas a la falta de unión entre procesos faciales embrionarios en formación. Objetivo: Evaluar la calidad de las guías de manejo de labio y/o paladar hendido. Métodos: Se realizó un estudio descriptivo. Se evaluaron seis guías de manejo de labio y/o paladar hendido en inglés y español desde 1990 a 2012. La búsqueda se realizó de manera electrónica (nivel global) y manual (nivel local); en la electrónica se consultaron bases de datos como MEDLINE, PubMed, EMBASE y SciELO; para la búsqueda manual se solicitaron por escrito guías a entidades públicas y privadas que manejan pacientes con labio y/o paladar hendido como Hospital Militar, Hospital San José, Operación Sonrisa, y Universidad El Bosque. Estas guías fueron filtradas según título y contenido para su selección. Previo a la evaluación de estas, se realizó una estandarización entre las evaluadoras. Finalmente se evaluó la calidad de las guías según lineamientos del instrumento Agree II. Resultados: La guía clínica de Chile en los dominios 1 y 4 obtuvo 100 por ciento y la guía de la Universidad Santo Tomás en Bucaramanga, presentó menos del 50 por ciento en los seis dominios. Conclusiones: De las guías para el manejo de labio y/o paladar hendido evaluadas, ninguna cumplió con todos los criterios de calidad del instrumento Agree II(AU)

ABSTRACT Introduction: Developmental defects are due to congenital malformations, deformations or disruptions. Lip and/or palate fissures are congenital structural deficiencies caused by lack of conjunction between developing embryonic facial processes. Objective: Evaluate the quality of cleft lip and/or palate management guidelines. Methods: A descriptive study was conducted. Evaluation was performed of six cleft lip and/or palate management guidelines published in English and Spanish from 1990 to 2012. The search was both electronic (global level) and manual (local level). The electronic search included databases such as MEDLINE, PubMed, EMBASE and SciELO, whereas for the manual search written requests for guidelines were sent to public and private organizations that manage cleft lip and/or palate patients, such as the Military Hospital, San José Hospital, Operación Sonrisa (Operation Smile) and El Bosque University. For their selection, the guidelines were filtered by title and content. Before assessing the guidelines, the evaluators standardized them. Finally, evaluation of the guidelines was performed following the instructions in the AGREE II tool. Results: The Chilean clinical guideline obtained 100 percent in domains 1 and 4, whereas the guideline from Saint Thomas University in Bucaramanga obtained less than 50 percent in the six domains. Conclusions: None of the management guidelines for cleft lip and/or palate evaluated met all the quality criteria in the AGREE II tool(AU)

Risk factors and comorbidities in Brazilian patients with orofacial clefts

Abstract: Considering that environmental risk factors substantially contribute to the etiology of orofacial clefts and that knowledge about the characteristics and comorbidities associated with oral clefts is fundamental to promoting better quality of life, this study aimed to describe the risk factors, main characteristics, and comorbidities of a group of patients with cleft lip and/or cleft palate (CL/P) from Rio Grande do Norte (RN), Brazil. Data were obtained from 173 patients with CL/P using a form from the Brazilian database on Orofacial Clefts. Most patients were male with cleft lip and palate and had a normal size and weight at birth; presented few neonatal intercurrent events; and had anemia and respiratory and cardiovascular diseases as main associated comorbidities. They also required timely surgical rehabilitation and multidisciplinary care to stimulate their neuropsychomotor development. In addition, a high frequency of familial recurrence and of parental consanguinity was evidenced in the studied population, especially for the cleft lip and cleft palate type. Other relevant findings were the considerable maternal exposure to alcohol, infections, smoking, and hypertension, as well as low supplementation with vitamins and minerals and deliberate consumption of analgesics, antibiotics, and antihypertensives during pregnancy. Characterization of the CL/P patient profile is essential for the planning of health services and integration among the health professionals involved in the diagnosis and treatment of these malformations. Our results reinforce the need for additional research to confirm the association between environmental factors and the development of orofacial clefts.

Assessing the association between hypoxia during craniofacial development and oral clefts

Abstract Objectives To evaluate the association between hypoxia during embryo development and oral clefts in an animal model, and to evaluate the association between polymorphisms in the HIF-1A gene with oral clefts in human families. Material and Methods The study with the animal model used zebrafish embryos at 8 hours post-fertilization submitted to 30% and 50% hypoxia for 24 hours. At 5 days post-fertilization, the larvae were fixed. The cartilage structures were stained to evaluate craniofacial phenotypes. The family-based association study included 148 Brazilian nuclear families with oral clefts. The association between the genetic polymorphisms rs2301113 and rs2057482 in HIF-1A with oral clefts was tested. We used real time PCR genotyping approach. ANOVA with Tukey's post-test was used to compare means. The transmission/disequilibrium test was used to analyze the distortion of the inheritance of alleles from parents to their affected offspring. Results For the hypoxic animal model, the anterior portion of the ethmoid plate presented a gap in the anterior edge, forming a cleft. The hypoxia level was associated with the severity of the phenotype (p<0.0001). For the families, there was no under-transmitted allele among the affected progeny (p>0.05). Conclusion Hypoxia is involved in the oral cleft etiology, however, polymorphisms in HIF-1A are not associated with oral clefts in humans.

Secuencia malformativa de Pierre Robin: informe de un caso y revisión de la literatura / Pierre Robin sequence: case report and literature review

Durante la infancia es muy frecuente encontrar alteraciones del desarrollo,las cuales derivan de una defi ciente formación de las estructurasanatómicas durante la embriogénesis. Puede encontrarse un sinnúmerode alteraciones del desarrollo que afectan la región bucal y maxilofacial.La gran mayoría de estas alteraciones han sido catalogadas como síndromes de orden genético; sin embargo, no todas pueden describirse como tales, pues existen anomalías del desarrollo que aparecen como consecuencia de una deficiente embriogénesis de la región facial, provocando alteraciones anatómicas y funcionales, pero que se apartan de componentes genéticos y cromosómicos específi cos. La secuencia malformativa de Pierre Robin es una de ellas, ya que esta condición es producida por una afección inicial, de la cual derivarán otras afeccionesadicionales a nivel del paladar y de la mandíbula que ocasionarán en elpaciente dificultad para la alimentación y respiración. Debido a que las alteraciones de esta condición afectan directamente la cavidad bucal,es crucial que el odontólogo se encuentre familiarizado con esta anomalía. El objetivo del presente artículo es describir las característicasque configuran esta entidad nosológica mediante la exposición de un caso clínico y revisión de la literatura.

During childhood, it is frequent to find development disorders whichare linked to the weak formation of anatomic structures duringembryogenesis. It is possible to find a plethora of developmentdisorders that aff ect the oral and maxillofacial region. The majorityof these disorders has been classifi ed as genetic malformations butnot all can be described as such. That is because some developmentdisorders appear as a result of a defi cient embryogenesis of the face,producing thus anatomic and functional malformations but that standapart from genetic and chromosomic specifi c components. The Pierre Robin sequence is one of them, given that this condition is producedby an initial disorder, followed by other disorders in the palate andjaw; provoking alimentary and breathing disabilities in the patient.Due to these disorders and their impact on the mouth, it is crucial thatdentists be familiarized with such anomalies. The aim of this article isto describe the key characteristics that defi ne this disease through thepresentation of a clinical case and a literature review.

Maternal risk factors associated with cleft lip with or without cleft palate: a review / Factores de riesgo materno asociados con el labio fisurado con o sin paladar hendido: una revisión

Disruptions in the development of the nasal and oral structures lead to cleft palate and cleft lip. There are many different factors that can affect this development such as genetic, mechanical traumas or teratogeny. The oral clefts are one of the most common birth defects worldwide affecting approximately 1 in 700 to 1000 children. The development of oral clefts is multifactorial and affect a significant portion of the population. The study results showed that smoking is the risk factor most associated with oral clefts (OR 1.09 to 2.11) and the least associated is the ingestion of folic acid (OR 0.59). Many of the risk factors discussed in this article will show an increase in the development of oral clefts although, some of the data could not be effectively compared due to differences in the methodology of each study and the subjective measures used.

Las interrupciones en el desarrollo de las estructuras nasales y orales conducen al paladar hendido y labio leporino. Hay muchos factores diferentes que pueden afectar este desarrollo, tal como los traumas o teratogenia mecánica genética. Las hendiduras orales son uno de los defectos de nacimiento más comunes en todo el mundo y afectan aproximadamente a 1 de cada 700 a 1000 niños. El desarrollo de fisuras orales es multifactorial y afecta a una parte significativa de la población. Los resultados del estudio mostraron que el tabaquismo es el factor de riesgo que más se asocia con fisuras orales (OR 01,09 a 02,11) y el menos asociado es la ingestión de ácido fólico (OR 0,59). Muchos de los factores de riesgo descritos en este artículo demuestran un aumento en el desarrollo de fisuras orales. No obstante, algunos de los datos no pudieron ser comparados con eficacia debido a las diferencias en la metodología de cada estudio y las medidas subjetivas utilizadas.

Association between maternal smoking, gender, and cleft lip and palate / Associação entre tabagismo materno, gênero e fendas labiopalatinas

ABSTRACT INTRODUCTION: Cleft lip and/or palate (CL/P) represent the most common congenital anomalies of the face. OBJECTIVE: To assess the relationship between maternal smoking, gender and CL/P. METHODS: This is an epidemiological cross-sectional study. We interviewed 1519 mothers divided into two groups: Cases: mothers of children with CL/P (n = 843) and Controls: mothers of children without CL/P (n = 676). All mothers were classified as smoker or non-smoker subjects during the first trimester of pregnancy. To determine an association among maternal smoking, gender, and CL/P, odds ratios were calculated and the adjustment was made by a logistic regression model. RESULTS: An association between maternal smoking and the presence of cleft was observed. There was also a strong association between male gender and the presence of cleft (OR = 3.51; 95% CI 2.83-4.37). By binary logistic regression analysis, it was demonstrated that both variables were independently associated with clefts. In a multivariate analysis, male gender and maternal smoking had a 2.5- and a 1.5-time greater chance of having a cleft, respectively. CONCLUSION: Our findings are consistent with a positive association between maternal smoking during pregnancy and CL/P in male gender. The results support the importance of smoking prevention and introduction of cessation programs among women with childbearing potential.

RESUMO Introdução: Fendas labiais e/ou palatinas (FL/P) representam as anomalias congênitas mais comuns da face. Objetivo: Avaliar a relação entre tabagismo materno, gênero e FL/P. Método: Realizou-se um estudo epidemiológico, de corte transversal. Foram entrevistadas 1.519 mães, divididas em dois grupos: Casos: mães de crianças com FL/P (n = 843); e Controles: mães de crianças sem FL/P (n = 676). Todas as mães foram classificadas como fumantes ou não fumantes durante o primeiro trimestre de gravidez. Para determinar a associação entre tabagismo materno, gênero e FL/P, odds ratios foram calculadas e o ajuste realizado pelo modelo de regressão logística. Resultados: Observou-se associação entre tabagismo materno, e fendas. Houve também forte associação entre sexo masculino e presença de fendas (OR = 3,51; 95% IC 2,83-4,37). Regressão logística binária demonstrou que ambas as variáveis foram independentemente associadas coma ocorrência de fendas. Na análise multivariada, o sexo masculino teve 2,5 vezes mais chance de apresentar fendas e tabagismo materno teve 1,5 vez mais chance dessa ocorrência. Conclusão: Os resultados são consistentes com a associação positiva entre tabagismo materno durante a gravidez e a ocorrência de FL/P no gênero masculino. Os resultados suportam a importância da prevenção do tabagismo e a aplicação de programas entre mulheres com potencial de gravidez.

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.

ECLAMC: 41 años de vigilancia de la holoprosencefalia en Chile. Período 1972-2012 / Frequency of holoprosencephaly in Chile

Background: Holoprosencephaly is a structural anomaly of the brain that consists in a defect of the prosencephalon development that leads to face and neurological defects of variable intensity. Aim: To estimate holoprosencephaly prevalence at birth. Patients and Methods: All cases of holoprosencephaly, born alive or stillbirths, registered in the 15 Chilean Hospitals of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) between 1972 and 2012, were studied. Craniofacial and other anomalies found in newborns affected by holoprosencephaly are described. Results: Fifty five cases of holoprosencephaly (58% males) were found among the 798.222 registered births (rendering a prevalence at birth of 0.69 per 10.000 newborns). The most common cranial defect was medial cleft lip with cleft palate (27.3%), bilateral cleft lip (11%) or both (38.2%), cyclopia (14%), single nostril (10.9%) and proboscis (9.1%). Eleven percent cases had a trisomy 13. A slight increase in prevalence over time was observed. Conclusions: Holoprosencephaly has a low frequency in Chile and is associated to trisomy 13. The increase in prevalence could be explained by a better prenatal diagnosis (ultrasonography).

Risk factors and the prevention of oral clefts

This article presents general aspects of risk factors and particularities of the management of individuals with oral clefts (OCs). A practical manual of prevention and management of this congenital defect was prepared based on a review of the literature and using data from Brazilian multicenter studies. Since OCs require efforts from all levels of healthcare, the data herein presented permits appropriate follow-up for affected individuals and their families. Also, the recognition of risk factors is crucial for planning and implementing preventive measures at the individual and population levels.

Etiology and genetic factors in clefts of lip and/or palate reported at children’s hospital, Lahore, Pakistan.

The etiology of cleft lip (CL) and/or cleft palate (CP) has been extensively studied in industrialized countries and is suggested to be heterogeneous with increasing evidence that both genetic and environmental factors are operating. To evaluate this assertion in a developing country like Pakistan, a case finding cross-sectional study was completed from 1st July 2010 to 31st May 2011 for 100 cases of CL and/or CP referred to the Genetic Clinic of the Children’s Hospital, Lahore, Pakistan. A clinical examination followed by necessary diagnostic work-up was completed for each case. The cause of CL and/or CP was clear in 18% of the children (n = 18). Environmental causes were found in 6 children (four mothers developed hyperthermia during the 2nd month of gestation, one mother was diabetic, and one mother was a known case of epilepsy and took sodium valproate throughout her pregnancy). Six children were suffering from known genetic malformation syndromes (each with Jarcho-Levin syndrome, Oral-Facial-Digital syndrome type XI, Oral-Duplication syndrome, Kabuki syndrome, Fronto-nasal dysplasia and Nager syndrome). Novel chromosomal aberrations were identified in 2 children. In 82% of the children (n = 82) the cause of oro-facial clefts remained unknown. Impact of gender and consanguinity on the development of CL and/or CP was also studied. Prevalence of CP was significantly more among female children as compared to that in males (P < 0.05). Associated anomalies were present in 18% of the cases, anomalies of the craniofacial region being the most common. These findings were compared with regional and international studies.

Bases ambientales y genéticas de las fisuras orofaciales: revisión / Narrative review: environmental and genetic basis of orofacial clefts

El desarrollo embriológico de las estructuras orofaciales es un proceso complejo guiado por programas genéticos. Alteraciones en esos procesos dan lugar a anomalías estructurales. Un ejemplo de ellas son las fisuras de labio y el paladar. Las principales vías involucradas en las fisuras tienen como participantes a las familias del factor de crecimiento fibroblástico (FGF), Hedgehog (HH), Wingless (WNT) y la familia del factor de crecimiento transformante beta (TGFß), que incluye las proteínas morfogenéticas del hueso (BMPs) y activinas. En esta revisión narrativa se presentan algunos de los procesos celulares, moleculares y factores ambientales implicados en el desarrollo del complejo orofacial, finalizando con posibilidades terapéuticas para la evidencia acumulada.

Complex genetic process guides the embryonic head development. Alterations in these processes result instructural abnormalities. An example of these are the cleft lip and palate. The major pathways involved in the fissures are families: the Fibroblast Growth Factor (FGF) family, the Hedgehog (HH) family, the Wingless (WNT) family and the Transforming Growth Factor beta (TGF-ß) family, which includes the Bone Morphogenetic Proteins (BMPs) and Activins. In this review, we discuss some of the celular/molecular processes and environmental factors involved in the development of the orofacial complex, ending with therapeutic possibilities and potential clinical relevance to the accumulated evidence.

Anencefalia y labio-paladar hendido / Anencephaly and cleft lip-palate

Este trabajo describe la presencia de defecto de tubo neural conocido como anencefalia asociado a labio y paladar hendido en un caso disección de un feto en la Escuela de Medicina de la Universidad de Costa Rica. Así mismo se revisa el tema y su importancia clínica desde el punto embriológico, molecular, preventivo y se ofrecen datos de incidencia de dicho caso en Costa Rica...

Estudo de pacientes com fissuras lábio-palatinas com pais consanguíneos / Study of patients with cleft lip and palate with consanguineous parents

Fissuras do lábio e/ou palato (FL/P) representam as anomalias congênitas mais comuns da face e em 70 por cento dos indivíduos, as fissuras lábio-palatinas ocorrem de forma não-sindrômica (FL/PNS). OBJETIVO: Descrever casos clínicos de FL/PNS associadas com consanguinidade e correlacionar tais alterações com possíveis fatores de risco. CASUÍSTICA E MÉTODOS: Realizou-se estudo retrospectivo, em um Serviço de referência para deformidades craniofaciais em Minas Gerais, Brasil, entre os anos de 2006-2009, a partir de prontuários clínicos. RESULTADOS: Entre 246 casos de FL/PNS diagnosticadas e assistidas no Serviço, 15 (6,1 por cento) foram de FL/PNS com relato de consanguinidade em primeiro grau e 73,3 por cento ocorreram no gênero masculino. Verificou-se que dos 15 pacientes, 4 pacientes apresentavam fissura lábio palatina (FLP) completa unilateral direita, 4 FLP bilateral completa, 3 FLP completa unilateral esquerda, 3 fissura palatina isolada e 1 fissura labial isolada. Dos fatores de risco avaliados, somente três mães relataram história de tabagismo durante a gestação. CONCLUSÕES: As FLP (unilateral ou bilateral) foram mais frequentes nesse grupo com histórico de consanguinidade em primeiro grau e o gênero masculino foi predominante. Entre os fatores de risco, apenas o tabagismo foi observado em três casos clínicos.

Cleft lip and/or palate (CL/P) are the most common congenital anomalies of the face. CL/P are non-syndromic (CL/PNS) in about 70 percent of subjects. AIM: To describe clinical cases of non-syndromic CL/P (CL/PNS) associated with consanguinity, diagnosed at a reference hospital in Minas Gerais, Brazil, and to correlate these alterations with possible risk factors. SERIES AND METHODS: A retrospective study at a reference hospital for craniofacial deformities in Minas Gerais, Brazil from 2006 to 2009 based on data in medical records. RESULTS: Of 246 CL/PNS cases diagnosed and treated at the institution, 15 (6.1 percent) were CL/PNS with reported first-degree consanguinity; 73.3 percent occurred in males. Four of 15 patients had complete right cleft palate and lip (CLP), 4 presented complete cleft palate and lip (right and left), 3 had complete unilateral left CLP, 3 had isolated cleft palate, and 1 presented cleft lip only. Among the risk factors, only three mothers reported smoking during pregnancy. CONCLUSIONS: CLP (unilateral or bilateral) were more frequent in the group with a history of first-degree consanguinity; males predominated. Among the risk factors, only smoking was observed in three cases.

Fissuras lábio-palatinas: série de casos clínicos incomuns / Cleft lip and palate: series of unusual clinical cases

Fissuras do lábio e/ou palato (FL/P) representam as anomalias congênitas mais comuns da face, correspondendo a aproximadamente 65 por cento de todas as malformações da região craniofacial. OBJETIVO: Descrever casos clínicos incomuns de FL/P não-sindrômicas (FL/PNS), diagnosticadas em um Serviço de referência em Minas Gerais, Brasil, e correlacionar tais alterações com possíveis fatores de risco. CASUÍSTICA E MÉTODOS: Realizou-se estudo retrospectivo, entre os anos de 1992 e 1º semestre de 2009, a partir dos prontuários clínicos. RESULTADOS: Entre 778 casos de FL/PNS diagnosticadas no período de 17 anos, 5 (0,64 por cento) foram de FL/PNS incomuns, sendo todos os pacientes do gênero masculino. Verificou-se que, dos 5 pacientes, 2 apresentaram fissura labial direita incompleta associada à fissura palatina incompleta; 2 eram afetados por fissura labial esquerda incompleta e fissura palatina incompleta e 1 com fissura lábio-palatina esquerda completa e fissura palatina direita completa. Fatores de risco como consanguinidade, tabagismo e etilismo materno, uso de medicamento na gestação, histórico de aborto e/ou natimorto e doenças maternas não foram associados às FL/ PNS incomuns CONCLUSÕES: Este estudo descreveu 5 casos raros de FL/PNS em uma população brasileira, não apresentando correlação com os fatores de risco analisados. Confirmou-se ainda a raridade na prevalência de tais alterações.

Cleft lip and/or palate (CL/P) represent the most common congenital anomalies of the face, corresponding to approximately 65 percent of all malformations of the craniofacial region. AIM: to describe unusual clinical cases of non-syndromic CL/P (CL/PNS), diagnosed in a reference service in Minas Gerais, Brazil, and correlate these alterations with possible risk factors. MATERIALS AND METHODS: we carried out a retrospective study, between the years of 1992 and the 1st half of 2009, from medical records. RESULTS: Among the 778 cases of CL/PNS diagnosed in the period of 17 years, 5 (0.64 percent) were unusual CL/PNS, and all patients were male. It was found that among the 5 patients, 2 had incomplete right cleft lip with incomplete cleft palate, 2 were affected by left incomplete cleft lip and incomplete cleft palate, and 1 had a cleft lip and palate associated with complete right cleft palate. Risk factors such as consanguinity, maternal smoking and alcohol consumption, medication usage during pregnancy, history of abortion and/or stillbirths and maternal diseases were not associated with unusual CL/PNS. CONCLUSIONS: This study described 5 unusual cases of CL/PNS in a Brazilian population; no associations with the risk factors analyzed were seen. It also confirmed the unusualness of the prevalence of such alterations.

Etiologia das más oclusões: perspectiva clínica (parte III): fissuras labiopalatinas / Etiology of malocclusions: clinical perspective (part III): cleft lip and palate

A fissura labiopalatina, como o nome sugere, aloja-se na face média, rompendo lábio, palato ou as duas estruturas. Portanto, está na área de alcance do dentista e causa problemas estruturais no osso alveolar e na maxila como um todo, na dependência da extensão da fissura. A relação óbvia e urgente com a má oclusão é compreendida de três maneiras: 1) pela ruptura anatômica que compromete a integridade do rebordo alveolar, 2) pelos problemas dentários, agenesias e más posições envolvendo os dentes adjacentes à fissura, e 3) pela deficiência maxilar, sagital e transversal induzida pelas cirurgias plásticas reconstrutivas. O presente artigo se dedica a um repasse panorâmico sobre a etiologia dessa anomalia que acomete 1 em cada 650 brasileiros.

Avaliação da idade materna, paterna, ordem de paridade e intervalo interpartal para fissura lábio-palatina / Maternal and paternal age, birth order and interpregnancy interval evaluation for cleft lip-palate

Fissuras do lábio e/ou palato representam as anomalias congênitas craniofaciais mais comuns. Objetivo: Avaliar fatores de risco ambientais em pacientes com fissuras lábio-palatinas não-sindrômicas, em um Serviço de Minas Gerais. Casuística e método: Realizou-se estudo caso-controle, avaliando 100 crianças com fissuras e 100 crianças sem alterações clínicas. As dimensões de análise (idade, cor de pele, sexo, classificação das fissuras, idade materna e paterna, ordem de paridade e intervalo interpartal) foram obtidas a partir de um questionário, sendo posteriormente construído banco de dados e as análises realizadas pelo programa SPSS 17.0. Os resultados foram analisados com risco relativo para cada variável, para estimar odds ratios com intervalo de confiança de 95 por cento seguido de análise bivariada e multivariada. Resultados: Entre as 200 crianças, 54 por cento foram do sexo masculino e 46 por cento do feminino. Com relação à cor da pele, houve predomínio de parda, branca e preta, respectivamente. Entre os tipos de fissuras, as mais comuns foram as fissuras lábio-palatinas (54 por cento), seguidas pela fissura labial (30 por cento) e fissura palatina (16 por cento). Conclusão: Embora com uma população limitada, verificou-se associação entre idade materna e risco aumentado para fissuras lábio-palatinas, porém idade paterna, ordem de paridade e intervalo interpartal não foram significantes.

Cleft lip and palate (CL/P) are the most common congenital craniofacial anomalies. AIM: To evaluate environmental risk factors for non-syndromic CL/P in a reference care center in Minas Gerais. Materials and methods: we carried out a case-controlled study, assessing 100 children with clefts and 100 children without clinical alterations. The analysis dimensions (age, skin color, gender, fissure classification, maternal and paternal age, birth order and interpregnancy interval), obtained from a questionnaire; and later we build a data base and the analyses were carried out by the SPSS 17.0 software. The results were analyzed with the relative risk for each variable, in order to estimate the odds ratio with a 95 percent confidence interval, followed by a bivariate and multivariate analysis. Results: among 200 children, 54 percent were males and 46 percent were females. As far as skin color is concerned most were brown, white and black, respectively. Cleft palates were the most common fissures found (54 percent), followed by lip cleft (30 percent) and palate cleft (16 percent). Conclusion: although with a limited sample, we noticed an association between maternal age and an increased risk for cleft lip and palate; however, paternal age, pregnancy order and interpregnancy interval were not significant.