Agujero Timpánico bilateral. Análisis de caso desde la literatura / Bilateral tympanic hole. Case analysis from the literature

La pared del conducto auditivo externo (CAE) parte de la formación del hueso timpánico; integrándose posteriormente a la porción petrosa del hueso temporal. El agujero timpánico o foramen de Huschke corresponde a un defecto en la osificación en donde existe fusión incompleta de porciones anteriores y posteriores del anillo timpánico dejando una abertura que comunica el CAE hacia anterior. Su presencia es normal hasta los 5 años de edad, tiempo en que se debiese obliterar. Su incidencia es baja (3-24%), pero la persistencia en adulto, conlleva sintomatología inespecífica caracterizada por otalgia, dolor en articulación temporomandibular (ATM), tinnitus, hipoacusia o manifestaciones complejas como descarga salival en CAE durante la masticación. Clínicamente puede complicar procedimientos de infiltración y artroscopias de ATM. Rara vez ocasiona, en pacientes mayores de 50 años, herniación de la cabeza del cóndilo mandibular. Su diagnóstico puede ser clínico por medio de otoscopia, donde se observa protuberancia de tejido en pared anterior del CAE, que aumenta de tamaño con la boca cerrada. También puede ser imagenológico con una tomografía computarizada. El tratamiento incluye desde medidas conservadoras para manejo del dolor e inflamación, hasta quirúrgicas con la implantación de injertos, placas o prótesis para cerrar la estructura o para reemplazar el cóndilo mandibular. El presente estudio pretende aportar incidencia dentro del área de estudio. Se analiza por observación directa, cráneo seco, completo, masculino, edad entre 12 a 15 años (según morfología del cóndilo mandibular y erupción dental). Se observa agujero de Huschke, bilateral, ambos permeables de diámetro 4 mm en ambos casos, determinados con regla milimetrada. La relevancia del defecto se asocia a la práctica clínica de otorrinolaringólogos, cirujanos maxilofaciales y odontólogos, ya sea como diagnóstico diferencial asociado a los síntomas inespecíficos, como para procedimientos más invasivos en la zona tales como infiltraciones o artroscopias de ATM

The wall of the external auditory canal (EAC) starts from the formation of the tympanic bone; later it is integrated to the petrous portion of the temporal bone. The tympanic foramen or foramen of Huschke corresponds to a defect in ossification where there is incomplete fusion of the anterior and posterior portions of the tympanic ring leaving an opening that communicates the EAC to its anterior aspect. Its presence is normal until 5 years of age, when it should be absolutely obliterated. Its incidence is low (3-24%), but its persistence in adults leads to non specific symptoms characterized by otalgia, pain in the temporomandibular joint (TMJ), tinnitus, hearing loss, or complex manifestations such as salivary discharge in the CAE during mastication. Clinically, it may complicate TMJ infiltration and arthroscopy procedures. It rarely causes herniation of the mandibular condyle head in patients older than 50 years. Its diagnosis can be clinical by means of otoscopy, where tissue protrusion is observed in the anterior wall of the CAE, which increases in size when the mouth is closed. It can also be imaging with computed tomography. Treatment includes from conservative measures to treat pain and inflammation, to surgical measures with the implantation of grafts, plates or prosthesis to close the structure or to replace the mandibular condyle. The present study aims to provide incidence within the study area. It is analyzed by direct observation, dry skull, complete, male, age between 12 to 15 years (according to mandibular condyle morphology and dental eruption). Huschke's foramen was observed, bilateral, both permeable, diameter 4mm in both cases, determined with a millimeter ruler. The relevance of the defect is associated with the clinical practice of otolaryngologists, maxillofacial surgeons and dentists, either as a differential diagnosis associated with nonspecific symptoms, or for more invasive procedures in the area such as infiltrations or TMJ arthroscopies.

Craniofacial anomalies associated with hypospadias. Description of a hospital based population in South America

ABSTRACT Introduction: Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing an increase of prevalence of hypospadias. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the association between hypospadias and craniofacial congenital anomalies. Materials and Methods: A retrospective review of the Latin-American collaborative study of congenital malformations (ECLAMC) data was performed between January 1982 and December 2011. We included children diagnosed with associated hypospadias and among them we selected those that were associated with any craniofacial congenital anomaly. Results: Global prevalence was 11.3 per 10.000 newborns. In this population a total of 809 patients with 1117 associated anomalies were identified. On average there were 1.7 anomalies per patient. Facial anomalies were present in 13.2%. The most commonly major facial anomaly associated to hypospadias was cleft lip/palate with 52 cases. We identified that 18% have an association with other anomalies, and found an association between craniofacial anomalies and hypospadias in 0.59 cases/10.000 newborns. Discussion: Hypospadias is the most common congenital anomaly affecting the genitals. Its association with other anomalies is rare. It has been reported that other malformations occur in 29.3% of the cases with hypospadias. The more proximal the meatus, the higher the risk for having another associated anomaly. Conclusion: Associated hypospadias are rare, and it is important to identify the concurrent occurrence of craniofacial anomalies to better treat patients that might need a multidisciplinary approach.

Craniofacial abnormalities among patients with Edwards Syndrome / Anormalidades craniofaciales entre pacientes con sindrome de Edwards / Anormalidades craniofaciais em pacientes com Sindrome de Edwards

OBJECTIVE To determine the frequency and types of craniofacial abnormalities observed in patients with trisomy 18 or Edwards syndrome (ES). METHODS This descriptive and retrospective study of a case series included all patients diagnosed with ES in a Clinical Genetics Service of a reference hospital in Southern Brazil from 1975 to 2008. The results of the karyotypic analysis, along with clinical data, were collected from medical records. RESULTS: The sample consisted of 50 patients, of which 66% were female. The median age at first evaluation was 14 days. Regarding the karyotypes, full trisomy of chromosome 18 was the main alteration (90%). Mosaicism was observed in 10%. The main craniofacial abnormalities were: microretrognathia (76%), abnormalities of the ear helix/dysplastic ears (70%), prominent occiput (52%), posteriorly rotated (46%) and low set ears (44%), and short palpebral fissures/blepharophimosis (46%). Other uncommon - but relevant - abnormalities included: microtia (18%), orofacial clefts (12%), preauricular tags (10%), facial palsy (4%), encephalocele (4%), absence of external auditory canal (2%) and asymmetric face (2%). One patient had an initial suspicion of oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome. CONCLUSIONS: Despite the literature description of a characteristic clinical presentation for ES, craniofacial alterations may be variable among these patients. The OAVS findings in this sample are noteworthy. The association of ES with OAVS has been reported once in the literature. .

OBJETIVO Verificar la frecuencia y los tipos de alteraciones craniofaciales observadas en pacientes con trisomía del cromosoma 18 o síndrome de Edwards (SE). MÉTODOS: Estudio descriptivo y retrospectivo de una serie de casos que incluyó a todos los pacientes diagnosticados con SE en un Servicio de Genética Clínica de un hospital de referencia en el sur de Brasil, en el periodo de 1975 a 2008. Los resultados del análisis cariotípico, juntamente con datos clínicos, fueron recogidos a partir de los prontuarios médicos. RESULTADOS: La muestra fue compuesta por 50 pacientes. De estos, el 66% eran del sexo femenino. La mediana de edad en el momento de la primera evaluación fue de 14 días. Respecto a los cariotipos, la trisomía libre del cromosoma 18 fue la alteración principal (90%). Se observó mosaicismo en el 10%. Las principales anormalidades craniofaciales observadas consistieron en microrretrognatia (76%), anormalidades de hélix de las orejas/orejas displásicas (70%), occipital prominente (52%), orejas retrovertidas (46%) y bajo implantadas (44%) y hendiduras palpebrales/blefarofimosis (46%). Otras anormalidades poco comunes, pero relevantes, fueron microtia (18%), hendiduras orofaciales (12%), apéndices preauriculares (10%), parálisis facial (4%), encefalocele (4%), ausencia de conducto auditivo externo (2%) y asimetría facial (2%). Uno de los pacientes presentaba sospecha inicial de espectro óculo-auricular-vertebral (EOAV) o síndrome de Goldenhar. CONCLUSIONES A pesar de la descripción en la literatura de cuadro clínico usualmente característico para la SE, las alteraciones craniofaciales pueden ser variables en esos pacientes. Llaman la atención los hallazgos pertenecientes al EOAV, siendo que la asociación de SE con esa condición se observó en la literatura en un relato de caso. .

OBJETIVO Verificar a frequência e os tipos de alterações craniofaciais observadas em pacientes com trissomia do cromossomo 18 ou síndrome de Edwards (SE). MÉTODOS: Estudo descritivo e retrospectivo de uma série de casos que incluiu todos os pacientes diagnosticados com SE em um Serviço de Genética Clínica de um hospital de referência do sul do país, no período de 1975 a 2008. Os resultados da análise cariotípica, juntamente com dados clínicos, foram coletados a partir dos prontuários médicos. RESULTADOS A amostra foi composta de 50 pacientes. Destes, 66% eram do sexo feminino. A mediana da idade no momento da primeira avaliação foi de 14 dias. Quanto aos cariótipos, a trissomia livre do cromossomo 18 foi a alteração principal (90%). Observou-se mosaicismo em 10%. As principais anormalidades craniofaciais observadas consistiram de microrretrognatia (76%), anormalidades de hélix das orelhas/orelhas displásicas (70%), occipital proeminente (52%), orelhas retrovertidas (46%) e baixo implantadas (44%) e fendas palpebrais pequenas/blefarofimose (46%). Outras anormalidades incomuns, mas relevantes, foram microtia (18%), fendas orofaciais (12%), apêndices pré-auriculares (10%), paralisia facial (4%), encefalocele (4%), ausência de conduto auditivo externo (2%) e assimetria de face (2%). Um dos pacientes apresentava suspeita inicial de espectro óculo-aurículo-vertebral (EOAV) ou síndrome de Goldenhar. CONCLUSÕES Apesar da descrição na literatura de quadro clínico usualmente característico para a SE, as alterações craniofaciais podem ser variáveis nesses pacientes. Chamam atenção os achados pertencentes ao EOAV, sendo que a associação de SE com essa condição foi observada na literatura em um relato de caso. .

Rubinstein-taybi syndrome: Clinical profile of 11 patients and review of literature.

Background: Rubinstein-Taybi syndrome (RSTS) is a rare congenital neurodevelopmental disorder, characterized by postnatal growth deficiency, typical dysmorphic features, broad thumbs and toes, and mental retardation. Very few cases are reported in literature from developing countries. Diagnosis is often delayed due to non-familiarity with the characteristic features of this syndrome. Aims: To report 11 cases of RSTS and to review the current literature. Settings And Design: Retrospective study conducted in genetic and metabolic unit of a tertiary care teaching hospital in north India over a period of 3½ years. Materials And Methods: 11 patients with diagnosis of RSTS were identified, and their case sheets were reviewed. Results: Developmental delay was presenting complaint in 10 patients, and seizure in 1 case. 7 patients had microcephaly (head circumference below −3 SD), and a prominent beaked nose was seen in 9 patients. The intelligence quotient (IQ) varied from 22-62 in 7 patients who had mental retardation. The most notable features in hands were broadness, shortening, and flattening of the distal phalanx of thumbs or great toes. Additionally, we also noted webbing of neck, microphthalmia, and pachygyria (on MRI brain) in 1 patient each. Conclusions: The diagnosis of RSTS is primarily clinical and based on characteristic phenotype that is often combined with a variety of somatic anomalies. An early diagnosis facilitates appropriate genetic counseling and in planning the management.

Epidemiologia do Padrão Face Longa em escolares do Ensino Fundamental do município de Bauru - SP / Epidemiology of long face pattern in schoolchildren attending fundamental schools at the city of Bauru - SP

OBJETIVO: o objetivo deste trabalho foi classificar e determinar a prevalência dos indivíduos portadores de comprometimento vertical nas relações faciais, conforme a severidade da discrepância e, especialmente, dos portadores de Padrão Face Longa. MÉTODOS: a amostra constou de 5.020 sujeitos de nacionalidade brasileira, de ambos os sexos, com idades entre 10 anos e 16 anos e 11 meses, matriculados no Ensino Fundamental do município de Bauru-SP. O exame da morfologia facial constou da observação direta da face, em normas frontal e lateral, sempre com os lábios em repouso, buscando identificar aqueles indivíduos que apresentassem comprometimento vertical nas relações faciais. Esses, uma vez identificados, foram classificados, considerando-se a severidade, em três subtipos: moderado, médio e grave. Para fins de determinação da prevalência dos portadores de Padrão Face Longa, apenas os classificados como dos subtipos médio e grave foram considerados. RESULTADOS: observou-se uma prevalência de 34,94 por cento de comprometimento vertical nas relações faciais e 14,06 por cento de Padrão Face Longa. CONCLUSÃO: os resultados obtidos no presente estudo permitiram concluir que a prevalência do comprometimento vertical nas relações faciais e do Padrão Face Longa foi maior do que a presumida com base na literatura.

OBJECTIVE: This study aimed to classify and determine the prevalence of individuals with vertical alteration of facial relationships, according to the severity of discrepancy, especially individuals with long face pattern. METHODS: The sample was composed of 5,020 individuals of Brazilian nationality, of both genders, aged 10 years to 16 years and 11 months, attending fundamental schools at the city of Bauru-SP. Examination of facial morphology comprised direct observation of the face in frontal and lateral views, always with the lips at rest, aiming to identify the individuals presenting vertical alteration of facial relationships. After identification, these individuals were scored, according to severity, into three subtypes, namely mild, moderate and severe. The prevalence of individuals with long face pattern considered only the individuals scored as subtypes moderate and severe. RESULTS: There was prevalence of 34.94 percent of vertical alteration of facial relationships and 14.06 percent of long face pattern. CONCLUSIONS: The results obtained in this study revealed that the prevalence of vertical alteration of facial relationships and long face pattern was higher than reported in the literature.

Frequency of congenital craniofacial malformations in a Brazilian reference center / Frequência de malformações congênitas craniofaciais em um centro de referência brasileiro

OBJETIVO: Avaliar a frequência de anomalias craniofaciais em pacientes assistidos em um Centro de Referência Brasileiro para deformidades craniofaciais. MÉTODO: Estudo retrospectivo epidemiológico avaliando os prontuários clínicos de 1.142 pacientes, sendo 656 (57,4 por cento) do gênero masculino e 486 (42,6 por cento) do feminino, entre os anos de 1992 e 2008. RESULTADOS: Entre os defeitos congênitos, fissura labial e/ou palatina não-sindrômica foi o mais frequente (778 casos; 68,1 por cento), seguido por anomalias congênitas simples ou múltiplas sem fissura labial e/ou palatina (240 casos; 21 por cento), síndromes ou sequências reconhecidas (56 casos; 5 por cento), síndromes com fissura orofacial como um componente do quadro sindrômico (41 casos; 3,5 por cento), e fissuras orofaciais em associação com malformações sistêmicas (27 casos; 2,4 por cento). CONCLUSÕES: Observou-se que o defeito congênito identificado mais frequente foi a fissura labial e/ou palatina não-sindrômica, no entanto, anomalias isoladas e síndromes envolvendo as estruturas craniofaciais foram bastante encontradas. Além disso, ressalta-se a necessidade de estudos que identifiquem a frequência e os fatores de riscos associados às anomalias craniofaciais na população brasileira, a fim de que se planejem estratégias e ações integradas para o desenvolvimento de programas preventivos e de tratamento adequado.

OBJECTIVE: To evaluate the frequency of craniofacial anomalies in patients treated at a Brazilian Reference Center for craniofacial deformities. METHOD: Retrospective epidemiological study evaluating the clinical records of 1,142 patients: 656 (57.4%) male and 486 (42.6%) female, between 1992 and 2008. RESULTS: Among birth defects, non-syndromic cleft lip and/or palate were the most frequent ones (778 cases; 68.1%), followed by single or multiple congenital anomalies without cleft lip and/or palate (240 cases; 21%), recognized syndromes or sequences (56 cases; 5%), syndromes with orofacial cleft as a component (41 cases; 3.5%), and orofacial clefts in association with systemic malformations (27 cases; 2.4%). CONCLUSIONS: Non-syndromic cleft lip and/or palate was the congenital defect most frequently identified, although, isolated anomalies and syndromes involving craniofacial structures were quite frequent. Furthermore, the need for studies to identify the frequency and risk factors associated with craniofacial anomalies in the Brazilian population is emphasized in order to plan comprehensive strategies and integrated actions for the development of preventive programs and treatment.

Occurrence of skeletal malocclusions in Brazilian patients with dentofacial deformities

In this study, a survey was conducted on the occurrence of skeletal malocclusions presented by patients of the Center for Research and Treatment of Buccofacial Deformities (CEDEFACE) in the city of Araraquara, SP, Brazil. The clinical charts of 381 patients with dentoskeletal deformities, who underwent combined orthodontic-surgical treatment in the period between 2000 and 2006, were reviewed. After sample selection (convenience method), based on the data of the pre- and post-surgical documentation, the number of patients was reduced to 171. For classification of the survey, the anteroposterior discrepancy (Class I, II and III), race, age, gender, absence or presence of asymmetry, vertical maxillary excess and maxillary biprotrusion were considered, in addition to determining in which bony base the surgical procedure was performed. Patients' documentations were analyzed by one examiner previously calibrated by repetition of the process until the method was considered adequate (intraclass correlation coefficient > 0.94). Patients' mean age was 23.59 (SD 6.93) years, the majority (102 patients) were women, and Caucasians (160 patients). Class III malocclusion was the most prevalent (81 patients). Asymmetry, vertical maxillary excess and biprotrusion were present in 54, 33, and 7 patients, respectively. The majority of surgeries for correction of dentoskeletal deformities were combined, involving the maxilla and mandible. In conclusion, Class III was the most prevalent skeletal deformity and Class I was the least prevalent; in general, the prevalence of skeletal deformities was higher in women; in the majority of patients with skeletal malocclusions there was a combination of maxillary and mandibular problems, which interferes directly in the decision regarding the most adequate treatment plan, and a higher incidence of asymmetry was observed in skeletal Class III; vertical excess occurred in a similar manner in Class II and III and there was a low incidence of biprotrusion among the malocclusions evaluated.

Este estudo avaliou a ocorrência de más oclusões esqueléticas apresentadas pelos pacientes do Centro de Pesquisa e Tratamento das Deformidades Bucofaciais (CEDEFACE), na cidade de Araraquara, SP, Brasil. Foram avaliados prontuários de 381 pacientes com deformidades dentoesqueléticas, que fizeram tratamento combinado ortodôntico-cirúrgico no período entre 2000 e 2006. Após a seleção da amostra (método de conveniência), baseado nos dados da documentação pré e pós-cirúrgica, o número de pacientes foi reduzido para 171. Para classificação do levantamento, considerou-se a discrepância ântero-posterior (Classe I, II e III), raça, idade, gênero, ausência ou presença de assimetria, excesso vertical maxilar e biprotrusão maxilar, além de determinar em qual base óssea o procedimento cirúrgico foi realizado. As documentações dos pacientes foram analisadas por um examinador previamente calibrado pelo processo de repetição até que o método fosse considerado adequado (correlação intraclasse >0,94). A idade média dos pacientes foi de 23,59 anos (DP 6,93), a maioria do gênero feminino (102 pacientes) e leucoderma (160 pacientes). A má oclusão mais prevalente foi a Classe III (81 pacientes). A assimetria, o excesso maxilar vertical e biprotrusão maxilar estavam presentes em 54, 33, e 7 pacientes, respectivamente. Na maioria dos casos, as cirurgias para correção de deformidades dentoesqueléticas foram combinadas, envolvendo os dois maxilares. Com base nos resultados, conclui-se que a Classe III foi a deformidade esquelética mais prevalente e a Classe I a menos prevalente. Em geral, a prevalência de deformidades esqueléticas foi maior entre as mulheres e a maioria dos pacientes apresentou uma combinação de problemas maxilares e mandibulares, o que interfere diretamente na decisão sobre o plano de tratamento mais adequado. Houve uma maior incidência de assimetria na Classe III esquelética; o excesso vertical ocorreu de forma semelhante na Classe II e III e a biprotrusão teve baixa incidência entre as más oclusões avaliadas.

Prevalencia y caracterización de los recién nacidos con anomalías craneofaciales en el Instituto Materno Infantil de Bogotá / Prevalence and characterisation of the newborn suffering craniofacial anomalies at the Instituto Materno Infantil in Bogotá

Objetivos Determinar la frecuencia y caracterizar los neonatos nacidos con anomalías craneofaciales atendidos en el Instituto Materno Infantil (IMI). Métodos Se recolectaron los datos de nacidos o remitidos al IMI, estrato, procedencia, factores de riesgo general y específico, género, edad gestacional, correlación peso y edad gestacional, diagnóstico de la anomalía, cariotipo y condición al egreso de los neonatos con anomalías craneofaciales atendidos entre 1 de Marzo de 2000 y 15 de Agosto de 2001. Resultados La prevalencia de anomalía congénita fue 2,7 por ciento y de anomalía craneofacial 0,6 por ciento. De 52 pacientes, 69 por ciento tenía factores de riesgo específico, 38 por ciento era prematuro y 33 por ciento tenía retardo del crecimiento intrauterino; 65 por ciento correspondió a hendiduras, 55,8 por ciento a anomalía múltiple y 46 por ciento a síndromes. Se estableció diagnóstico etiológico en 38 por ciento de los casos; 12 por ciento tenía cromosomopatía. Fallecieron 18 niños (35 por ciento) y en 13 la muerte se atribuyó a la anomalía, 6 de éstos tenían cromosomopatía. Se evidenció la utilidad del cariotipo para hacer diagnóstico etiológico y establecer pronóstico. Los neonatos con anomalías craneofaciales tuvieron 3 veces más riesgo de morir que el resto de neonatos hospitalizados. Se demostró asociación estadísticamente significativa de la mortalidad con prematurez, retardo de crecimiento, cromosomopatía y diagnósticos de anomalía múltiple y síndrome. Conclusiones Prematurez, retardo de crecimiento, anomalía múltiple, diagnóstico de síndrome y cromosomopatía evidencian un perfil de riesgo para mortalidad.

Objectives Determining the frequency and characteristics of newborn suffering craniofacial abnormalities who were attending the Instituto Materno Infantil (IMI) in Bogotá. Methods Data was gathered regarding the newborn suffering such alterations who attended IMI from March 1 st 2000 to August 15 th 2001. The variables analysed were: being born in or having been remitted to the IMI, social strata, origin, general and specific risk factors, gender, correlation between weight and gestational age, clinical and aetiological diagnosis of the anomaly, karyotype and condition on leaving IMI. Results There was 2,7 percent prevalence for congenital defects and 0,6 percent for craniofacial abnormalities. 69 percent of the 52 patients had specific risk factors, 38 percent had been preterm, 33 percent had suffered retarded intra-uterine growth, 65 percent had cleft palates, 55,8 percent multiple abnormalities and 46 percent syndromes. Aetiological diagnosis was established in 38 percent; 12 percent had chromosomopathy. Eighteen children (35 percent) died, death being attributed to their defect in 13 of them, six by chromosomopathy. This study revealed the use of karyotype in making an aetiological diagnosis and determining prognosis. Mortality for the group suffering craniofacial abnormalities was threefold that of other hospitalised neonatal patients. Significant statistical association was shown between mortality and preterm condition, retarded growth, chromosomopathy and a diagnosis of multiple defects and/or syndromes. Conclusions Prematurity, retarded growth, multiple defects, syndrome diagnosis and chromosomopathy revealed a mortality risk profile.