[Functional and aesthetic significance of the uvula in cleft palate repair]. / Rol' yazychka v dostizhenii funktsional'nogo i esteticheskogo rezul'tata uranoplastiki.

OBJECTIVE: To investigate functional and aesthetic role of uvula in cleft palate repair. MATERIALS AND METHODS: Forty-one patients aged from 1 year 2 months to 7 years were included in this study with congenital cleft lip and/or palate. The morphological investigation of the resected hemi- uvula was done. Palatoplasty was performed in all cases. RESULTS: According to morphological results, most of the resected hemi-uvula consisted of vascularized fibrous tissue, covered with epithelium. In three groups of patients (with unilateral, bilateral and isolated cleft palate), the duration of the surgery and intraoperative blood loss did not exceed similar values for conventional methods. The volume of infusion therapy revealed a deficit of fluid intake of no more than 30%, which indicates early restoration of swallowing function. CONCLUSION: The technique of preserving one of the «hemi-uvulas¼ lead to excellent aesthetic results and increasing functionality. Resection of one of the «hemi-uvulas¼ is safe and physiological.

An epidermoid cyst of the uvula causing dyspnea in an infant: A case report.

RATIONALE: Congenital epidermoid cysts are benign deformities that rarely affect the uvula. A uvular epidermoid cyst is painless and slow-growing. Most such cysts are asymptomatic and rarely cause oral dysfunction. PATIENT CONCERNS: We present the case of a 10-month-old infant with dyspnea caused by a mass in the uvula. DIAGNOSIS: The patient was diagnosed with a uvular epidermoid cyst via neck soft tissue X-ray and flexible laryngoscopy. INTERVENTIONS: Emergency surgery was performed. OUTCOMES: The patient recovered immediately after the operation and was discharged 1 day later. LESSONS: In an infant with a uvula cyst, early surgical treatment may be needed to prevent symptoms, such as dyspnea, requiring emergency treatment.

Prevalence of bifid uvula in primary school children.

BACKGROUND: A bifid uvula is an anatomic variation that can be predictive of sub-mucous cleft palate, which may cause velopharyngeal insufficiency (VPI). Bifid uvula prevalence in the literature ranges from 0.18% to 10.3%, depending on the population studied. The aim of this study is to determine the prevalence of bifid uvula in the Geneva's school children population. METHODS: A cross-sectional study was conducted in Geneva's primary school children, from September 2014 to June 2015. An examination of the uvula was performed by dentists working for the Scholastic Dental Service, after a specific training in diagnosing bifid uvulas. The dentists recorded their findings on a standardized form. RESULTS: The total number of school children in Geneva in the school year 2014-2015 was 30,375. 23,961 children had their uvula examined, representing 79% of the total population of school children. Among them, a hundred school children had a cleft uvula. One schoolgirl had no uvula. The prevalence of bifid uvula is 0.42%. Sex ratio (M/F) is 0.96. DISCUSSION: This large study, the second in literature for number of patients examined, identified a prevalence of bifid uvula of 0.42%. This result is in agreement with previous studies.

Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population / Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population

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.

Incidence of bifid uvula and its relationship to submucous cleft palate and a family history of oral cleft in the Brazilian population.

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.

Quiste epidermoide de úvula palatina: presentación de un caso: revisión de la literatura / Epidermoid cyst of uvula: presentation of case: review of the literature

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

[Loeys-Dietz syndrome (TGFßR2 mutation) in a 4-year-old child with thoracic aortic aneurysm]. / Syndrome de Loeys-Dietz (mutation TGFßR2) chez une enfant de 4ans avec anévrysme de l'aorte thoracique.

Loeys-Dietz syndrome is a rare form of connective tissue disorder, whose clinical features can resemble those of Marfan syndrome, but with a more unpolished appearance. Recently brought out, this pathology remains little known; however, its consequences may be dramatic. We report on the case of a 4-year-old girl followed for a congenital hip dislocation, in which a systematic exam found increased cutaneous elasticity and a bifid uvula, suggesting a connective tissue disorder. Symptoms were unpolished, as the child's height was normal, without any positive cardiac, rheumatological, or ophthalmological family history. Cardiovascular tests found a thoracic aortic aneurysm at the Valsalva sinus (26mm, Z-score=+4.24). A genetic investigation found a TGFßR2 gene mutation, leading to the diagnosis of Loeys-Dietz syndrome type 2. Skeletal damage associated with bifid uvula and/or hypertelorism and an aneurysm of the ascending aorta should guide the genetic investigation to the search for TGF-ß vasculopathy such as Loeys-Dietz syndrome.

Elongated Uvula Causing Chronic Cough: Role of the Modified Uvulopalatoplasty Procedure.

OBJECTIVE: A subset of patients previously diagnosed with idiopathic chronic cough were found to have an elongated uvula contacting the laryngeal surface of the epiglottis and inducing a cough reflex. These patients were successfully treated with an in-office modified uvulopalatoplasty procedure (mUPP) at our institution. We aim to further categorize this subset of patients and describe the mUPP that can potentially offer this group of patients cure for their chronic cough. STUDY DESIGN: Institutional Review Board-approved retrospective chart review. METHODS: Patient demographics, medical history, associated symptoms, prior treatment remedies, and response to mUPP were recorded and analyzed for 30 patients who underwent an in-office mUPP. RESULTS: The majority of patients were middle-aged, nonsmoking females with symptoms of globus sensation and a gag reflex when lying supine. 96.7% of patients reported complete resolution or noticeable improvement of their cough following mUPP. There were no complications from this in-office procedure in our study. CONCLUSIONS: The authors' main goals are to make other physicians aware of this under-recognized subset of patients with chronic cough who have an identifiable and treatable cause for their symptoms and to provide the steps of a simple and effective surgical solution to chronic cough in this group of patients.

Congenital Lateral Cleft Palate of Unknown Etiology.

The term cleft palate (CP) refers to midline defects extending from the prealveolar ark to the uvula, and these defects present with varying degrees. CP may be complete, incomplete, unilateral, bilateral, or submucosal. It is often observed with cleft lip (CL). In various studies, the incidence of isolated CP has been reported as 1.3 to 25.3 per 1000 births. As a result of deterioration of the anatomical structure of the palate, illnesses such as regurgitation, respiratory tract infections, otitis, and speech disorders may occur. These defects are often observed in the midline and are rarely laterally localized. Cleft palates with lateral localization are outside the natural midline cleft closure line and cause clinical complaints similar to other types of CP. Two cases of laterally localized CP have previously been published in the literature. The case presented here is the third known case to be reported.

Keep an Eye Out for the Bifid Uvula: A Case Report.

The incidence of submucous cleft palate is between 1:1250-1:6000. It is important for this relatively silent deformity to be identified early and referred appropriately as a delay in diagnosis may affect the patient's quality of speech in the long-term. This paper presents a case of submucous cleft palate which was diagnosed late (age 14). Nevertheless, by the appropriate intervention of the multidisciplinary cleft team, the patient was treated successfully. Clinical Relevance. Dentists and doctors need to be aware of the signs and symptoms associated with submucous cleft palate so that they can refer the patient to an appropriate specialist centre for further investigation and treatment. Moreover, patients with this condition are shown to have a higher incidence of dental abnormalities, such as hypodontia and peg-shaped laterals.

Uvular malformation in the presence of deformational plagiocephaly.

BACKGROUND: Deformational plagiocephaly is cranial asymmetry caused by external forces on the skull. Deformational plagiocephaly is seen in 5% to 48% of healthy newborns. Incomplete uvular fusion, in contrast, is one of many uvular malformations. The incidence of all degrees of incomplete uvular fusion is approximately 1% in healthy children. Bifid uvula is a malformation that is often considered a microform cleft palate or a marker for submucous cleft palate. METHODS: This is a retrospective study of patients with deformational plagiocephaly seen at the Upstate Cleft and Craniofacial Center between January 1, 2006, and September 30, 2011. Patients were identified by the International Classification of Diseases, Ninth Revision code for plagiocephaly. Seventy-nine patients were excluded with craniosynostosis and syndromic diagnoses. One hundred forty-six patients with deformational plagiocephaly were included in the study. Data were collected for sex, age at presentation, parity, multiple births, delivery, oligohydramnios, cephalohematoma, uterine abnormalities, fetal position, and intrauterine growth restriction. Clinical findings were collected including location of cranial flattening and uvular malformations. RESULTS: Twenty-four of 146 patients with deformational plagiocephaly had incomplete fusion of the uvula ranging from complete bifid uvula to a notched uvular tip (16.4%). This association was statistically significant (odds ratio, 18; 95% confidence interval, 11.1-28.9). Most patients (62.3%) were male. We recorded primiparity (44.5%), multiple births (17.1%), vacuum-assisted delivery (6.2%), cesarean section (36.3%), oligohydramnios (4.1%), uterine abnormalities (2.1%), abnormal fetal position (3.4%), and intrauterine growth restriction (1.4%). Ten of the 24 patients with plagiocephaly and uvular malformation were seen for an initial consultation only in our chart system. Of the remaining 14 patients with follow-up, none had recorded signs or symptoms of velopharyngeal insufficiency. CONCLUSIONS: The incidence of incomplete uvular fusion in infants with deformational plagiocephaly is 16.4%, which is significantly higher than the approximate 1% incidence reported in the general population. This is the first report of uvular malformation in the presence of deformational plagiocephaly.

Nuevas manifestaciones orales del síndrome branquio-óculo-facial: Caso clínico / New oral manifestations of Branchio-oculo-facial syndrome: Case report

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.

Clinical and genetic study on 356 Brazilian patients with a distinct phenotype of cleft lip and palate without alveolar ridge involvement.

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.

Clinical grading system for submucous cleft palate.

Submucous cleft palate is a structural abnormality of the palate. The clinical features vary, as does the functional impairment, which ranges from none to severe. Although there is a poor correlation between the presenting clinical signs and the severity of velopharyngeal insufficiency during speech, a clinical grading system could assist surgical management and allow more meaningful comparisons to be made between outcome studies. The grading system described is based on clinical examination alone and reflects the likely degree of structural abnormality of the musculature of the soft palate.

Submucous cleft palate: variations in bony defects of the hard palate.

We have analysed bony defects of the hard palate in patients with submucous cleft palate to find out whether velopharyngeal insufficiency (VPI) is dependent on the extent of these defects. We evaluated the maxillofacial structures associated with cleft palate by 3-dimensional computed tomography (CT) in 23 children diagnosed with submucous cleft palate. Bony defects of the hard palate were divided into Type I, defined as absent posterior nasal spine (n=12), Type II, V-shaped bony notch (moderate, n=7), and Type III, as bony defect extending into the incisive foramen (severe, n=4) defects, respectively. VPI was found in 10, 3, and 4 patients, respectively. Neither VPI nor the degree of bifid uvula was significantly associated with the types of bony defects.