ABSTRACT
@#A 20-year-old male was referred to the Endocrinology Clinic in view of abnormal thyroid function test result and poor development of secondary sexual characteristics. He was born out of non-consanguineous marriage and had a history of breech delivery at term. He had perinatal complications in the form of delayed cry and lower respiratory tract infection. Developmental delay was also present (delayed motor, speech and social milestones). His scholastic performance was below average and he reported being the shortest child in class from kindergarten.
Subject(s)
HypopituitarismABSTRACT
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.
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Child , Uvula/abnormalities , Cleft Palate/epidemiology , Medical History Taking/statistics & numerical data , Brazil/epidemiology , Incidence , Cross-Sectional Studies , Surveys and Questionnaires , Cleft Lip/epidemiology , Mouth Mucosa/abnormalitiesABSTRACT
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.
Subject(s)
Female , Child, Preschool , Uvula/abnormalities , Branchial Region , Branchio-Oto-Renal SyndromeABSTRACT
Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. This rare inherited disorder is characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Awareness of this condition and assosciated complications helps in better follow up and management of these patients.