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Abstract Introduction: Bifid uvula is a frequently observed anomaly in the general population and can be regarded as a marker for submucous cleft palate. Objective: In this study aimed to determine the frequency of bifid uvula and submucous cleft palate and their relationship with oral clefts in a Brazilian population. Methods: We conducted a transversal, descriptive and quantitative study of 1206 children between August 2014 and December 2015. A clinical examination of the children was conducted by means of inspection of the oral cavity with the aid of a tongue depressor and directed light. After the clinical examination in children, parents answered a questionnaire with questions about basic demographic information and their family history of oral clefts in their first-degree relatives. After application of the questionnaires, the information collected was archived in a database and analyzed by the statistical program SPSS® version 19.0, by applying Chi-Square tests. Values with p < 0.05 were considered statistically significant. Results: Of the 1206 children included in this study, 608 (50.40%) were female and 598 (49.60%) were male (p = 0.773). The average age of children was 3.75 years (standard deviation ± 3.78 years). Of the 1206 children studied, 6 (0.5%) presented with bifid uvula. Submucosal cleft palate was not found in any child. When the family histories of children were examined for the presence of nonsyndromic cleft lip and/or cleft palate, no first degree relatives presented with the congenital anomaly. Conclusion: This study revealed that the incidence of bifid uvula and submucous cleft palate in this population was quite similar to previously reported incidence rates. Our study suggests an intensification of new reviews, with broader and diverse populations, seeking to associate the occurrence of bifid uvula, submucous cleft palate and oral clefts.

Resumo: Introdução: A úvula bífida é uma anomalia frequentemente observada na população em geral e pode ser considerada como um marcador de fissura palatina submucosa. Objetivo: Determinar a frequência de úvula bífida e fissura palatina submucosa e sua relação com fissura orais em uma população brasileira. Método: Realizamos um estudo transversal, descritivo e quantitativo de 1.206 crianças entre agosto de 2014 e dezembro de 2015. O exame clínico das crianças foi realizado por meio da inspeção da cavidade oral com auxílio de um abaixador de língua e luz direcionada. Após o exame clínico nas crianças, os pais responderam a um questionário com perguntas sobre informações demográficas básicas e antecedentes de fendas orais em familiares de primeiro grau. As informações coletadas foram arquivadas em um banco de dados e analisadas pelo programa estatístico SPSS® versão 19.0, aplicando testes de Qui-Quadrado. Os valores com p < 0,05 foram considerados estatisticamente significativos. Resultados: Das 1.206 crianças incluídas neste estudo, 608 (50,40%) eram do gênero feminino e 598 (49,60%) do masculino (p = 0,773). A idade média das crianças foi de 3,75 anos (desvio-padrão ± 3,78 anos). Das 1.206 crianças estudadas, seis (0,5%) apresentavam úvula bífida. A fissura palatina submucosa não foi encontrada em nenhuma criança. Quando as histórias familiares de crianças foram examinadas quanto à presença de fissura de lábio e/ou palato não sindrômica, nenhum parente de primeiro grau apresentava esta anomalia congênita. Conclusão: Este estudo revelou que a incidência de úvula bífida e fissura palatina submucosa nesta população é bastante semelhante às taxas de incidência previamente relatadas. Nosso estudo sugere uma intensificação de novas revisões, com populações mais amplas e diversas, buscando associar a ocorrência de úvula bífida, fissura palatina submucosa e fissura orais.

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INTRODUCTION: Bifid uvula is a frequently observed anomaly in the general population and can be regarded as a marker for submucous cleft palate. OBJECTIVE: In this study aimed to determine the frequency of bifid uvula and submucous cleft palate and their relationship with oral clefts in a Brazilian population. METHODS: We conducted a transversal, descriptive and quantitative study of 1206 children between August 2014 and December 2015. A clinical examination of the children was conducted by means of inspection of the oral cavity with the aid of a tongue depressor and directed light. After the clinical examination in children, parents answered a questionnaire with questions about basic demographic information and their family history of oral clefts in their first-degree relatives. After application of the questionnaires, the information collected was archived in a database and analyzed by the statistical program SPSS® version 19.0, by applying Chi-Square tests. Values with p<0.05 were considered statistically significant. RESULTS: Of the 1206 children included in this study, 608 (50.40%) were female and 598 (49.60%) were male (p=0.773). The average age of children was 3.75 years (standard deviation±3.78 years). Of the 1206 children studied, 6 (0.5%) presented with bifid uvula. Submucosal cleft palate was not found in any child. When the family histories of children were examined for the presence of nonsyndromic cleft lip and/or cleft palate, no first degree relatives presented with the congenital anomaly. CONCLUSION: This study revealed that the incidence of bifid uvula and submucous cleft palate in this population was quite similar to previously reported incidence rates. Our study suggests an intensification of new reviews, with broader and diverse populations, seeking to associate the occurrence of bifid uvula, submucous cleft palate and oral clefts.

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El quiste epidermoide es una entidad dermatológica frecuente, siendo muy rara su ubicación en la cavidad oral, con una mayor prevalencia a nivel de la cavidad oral. Es considerada de etiología congénita, aunque se presenta predominantemente en adulto jóvenes. Generalmente son masas bien circunscritas, decrecimiento lento y asintomáticos, aunque los ubicados en la cavidad oral y orofaringe pueden provocar trastornos fonatorios, deglutorios y respiratorios. El diagnóstico es clínico, siendo el diagnóstico diferencial con los quistes dermoides y teratoides solo posible con el estudio histopatológico. El tratamiento es quirúrgico y elpronóstico favorable sin recidivas. Se presenta un caso de quiste epidermoide localizado en la úvula palatina, en un varón de 6 meses de vida, tratado quirúrgicamente, con la excéresis del tumor por un abordaje trasoral

The epidermoid cyst is a frequent dermatological entity, being very rare its location in theoral cavity, with a higher prevalence at the level of the floor of the oral cavity. It is considered of congenitaletiology, although it occurs predominantly in young adults. They are generally well circumscribed, slowgrowing and asymptomatic masses, although those located in the oral cavity and oropharynx can causephonatory, swallowing and respiratory disorders. The diagnosis is clinical, being the differential diagnosiswith the dermoid and teratoid cysts only possible with the histopathological study. The treatment is surgicaland the prognosis is favorable without relapses. We present a case of epidermoid cyst located in uvula, in amale of 6 months of life, treated surgically, with the tumor excision by a transoral approach

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El síndrome branquio-óculo-facial es una condición autosómica dominante con expresividad variable y que afecta particularmente las estructuras de la cara y cuello por un desarrollo inadecuado del primero y segundo arco branquial; presenta malformaciones de los ojos y oídos, con características faciales distintivas. Está asociado con alteraciones en el gen TFAP2A. Se presenta una paciente de 9 años con fenotipo de síndrome branquio-óculo-facial y la presencia de dos nuevas manifestaciones orales, la úvula bifida y la lengua con hendidura central parcial, no descritas hasta ahora en esta condición clínica.

The branchio-oculo-facial syndrome is a dominant autosomic condition with variable expressivity that affects particularly the facial and neck structures by an inadequate development of the first and second branchial arch. It is characterized by malformations of eyes and ears, with distinct facial characteristics. It is associated with alterations in TFAP2A gene. We present a patient with 9 years of age with phenotype of the branchio-oculo-facial syndrome and the presence of 2 new oral manifestations, the bifid uvula and the tongue with partial central cleft, not yet described in this clinical condition.

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Oral clefts include cleft lip (CL), cleft lip with cleft palate (CLP) and cleft palate (CP), with wide variations in clinical presentation and degree of severity. We described a sample of individuals with CL and CP without alveolar arch involvement (CL + CP) to verify if the characteristics of this group are distinct from those with CL with or without CP (CL/P) described in literature. The sample was composed of 356 patients with CL + CP, registered at HRCA-USP, Bauru-SP-Brazil. The following characteristics were investigated: sex ratio, parental age at the time of conception, parental consanguinity, familial recurrence, laterality of the cleft and associated anomalies. A subgroup of 30 individuals with microforms of CL and CP were taken from the sample and compared with the remaining cases. Statistical differences were found between this CL + CP sample and the literature data for groups with CL/P regarding laterality, sex ratio, consanguinity, familial recurrence, and the presence of associated anomalies. The microform sample showed a statistical difference in paternal age. In most evaluated aspects, this sample presents similar characteristics to the consulted literature data for CL/P; as do the group of microform cleft cases when compared with the remaining CL + CP sample in this study. Microforms of cleft can represent a target group for investigation into the embryogenetic mechanisms of oral clefts and their phenotypic variability.

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O objetivo deste estudo foi verificar se a prevalência da fissura de úvula (FU) é maior em familiares de portadores de fissura labiopalatina em relação à população em geral. Esta pesquisa foi realizada com um grupo de estudo composto por 136 familiares de pacientes fissurados e com um grupo controle formado por 287 indivíduos sem história familiar de qualquer deformidade craniofacial. A metodologia consistiu em inspeção da cavidade oral por 2 examinadores, com luz direcionada ao palato posterior e auxílio de abaixador de língua e jatos de ar para elicitar o reflexo do vômito e definir e extensão da FU, segundo a classificação de Meskin. Os resultados mostraram que a prevalência da FU no grupo de estudo foi 2,9:100, sendo todas classificadas como parciais 25% de extensão, e no grupo controle 2,4:100, sendo que prevaleceu a parcial 25%. Concluiu-se que a FU não prevalece em familiares de portadores de fissuras labiopalatinas; não há correlação com o gênero e a fissura de úvula parcial 25% foi a mais incidente.

The goal of this study was to verify if the prevalence of cleft uvula is higher in families of cleft palate individuals than in the general population. The study group was composed of 136 relatives of cleft individuals and the control group was composed of 287 individuals without family history of cleft palate. The methodology consisted of oral examination by two examiners, with depression of the tongue to elicit the vomit reflex and air jets to define the cleft extension according to Meskin’s classification. The results showed that the study group presented a 2,9:100 prevalence of cleft uvula being all classified as partial 25% of extension and the control group showed a prevalence of 2,4:100, with higher occurrence of partial 25% of extension. In conclusion, the cleft uvula does not prevail in relatives of cleft palate individuals in relation to the general population, there is no sex correlation and the cleft uvula classified as partial 25% of extension has higher incidence.

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Cleft lip (CL) and/or palate (CP) are uncommon anomalies in Turner syndrome (TS) series. We report two unrelated sporadic 46,X,i(Xq) patients exhibiting orofacial clefts and a peculiar facial appearance masking the clinical diagnosis. CL, and CP in case 1 and CP in case 2, though non-specific of TS, may not be fortuitous findings. The increased frequency of CP and bifid uvula in poly X syndromes, the dermatoglyphic similarities between iXq TS and X polysomies, and the occurrence of Klinefelter phenotype when extra Xq material is present in a male, are all indirect evidences suggesting that Xq material cannot be considered phenotipically inert and facial clefts found in our patients may be syndromal manifestation of trisomic Xq dosage.

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Since the recognition of the Beckwith-Wiedemann syndrome was first noted in 1963, the number of associated anomalies has vastly increased. The rate of appearance of this abnormality is 1 in 13,5000 births. This article presents a case that includes macroglossia and ankyloglossia along with a bifid uvula and a submucous cleft of the palate. A discussion of treatment follows.

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