RESUMO
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.
Assuntos
Humanos , Anormalidades Craniofaciais/epidemiologia , Anormalidades Congênitas , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Serviços de Informação , Estudos RetrospectivosRESUMO
OBJECTIVES: Goldenhar syndrome (GS) is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects. This paper describes GS features with special emphasis on oral characteristics. MATERIAL AND METHODS: The clinical features of 6 patients with GS aged 3 months to 12 years are described, and a brief review of the literature about this genetic disorder is presented. RESULTS: All patients demonstrated the classical triad of GS, including mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformation, and vertebral anomalies. In addition, renal and gastrointestinal abnormalities were observed in 2 patients. Regarding the oral involvement, 2 patients presented cleft lip and palate, and 1 patient had temporomandibular joint malformation. Malocclusion was found in all patients. CONCLUSION: Our orofacial findings correlate with the reported cases in the literature, and point out that after diagnosis GS patients need to be examined for systemic abnormalities.
Assuntos
Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Assimetria Facial/etiologia , Síndrome de Goldenhar/diagnóstico , Anormalidades Maxilofaciais/etiologia , Síndrome de Goldenhar/complicações , Má Oclusão/etiologia , Mandíbula/anormalidades , MandíbulaRESUMO
UNLABELLED: Cleft lip and/or palate (CL/P) represent the most common congenital anomalies of the face, corresponding to approximately 65% 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%) 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.
Assuntos
Fenda Labial/etiologia , Fissura Palatina/etiologia , Brasil/epidemiologia , Pré-Escolar , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Consanguinidade , Humanos , Lactente , Recém-Nascido , Lábio/anormalidades , Masculino , Palato/anormalidades , Prevalência , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais , Fumar/efeitos adversosRESUMO
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.
Assuntos
Pré-Escolar , Humanos , Lactente , Recém-Nascido , Masculino , Fenda Labial/etiologia , Fissura Palatina/etiologia , Brasil/epidemiologia , Consanguinidade , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Lábio/anormalidades , Prevalência , Palato/anormalidades , Estudos Retrospectivos , Fatores de Risco , Fatores Sexuais , Fumar/efeitos adversosRESUMO
Ectrodactyly-ectodermal dysplasia-clefting syndrome is an uncommon disorder that includes a clinical spectrum of limb, facial, ocular, internal ear, and urogenital malformations. The disease is caused by heterozygous mutations in the 3q27-29 located p63 gene. In this paper we describe a 17-year-old girl affected by ectrodactyly-ectodermal dysplasia-clefting syndrome with a de novo p63 mutation that predicts a heterozygous missense substitution (arginine to tryptophan substitution caused by a cytosine to thymine transition) at the amino acid 304 (R304W) of the p63 DNA-binding domain. Scattered freckles on face, legs, and abdominal region, an uncommon feature associated with this syndrome, were recognized in our patient. The clinical features and genotype-phenotype correlation with previous p63 mutations related to the syndrome are discussed and compared with those observed in our patient. This case expands the phenotypic spectrum of ectrodactyly-ectodermal dysplasia-clefting syndrome.
Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Displasia Ectodérmica/genética , Mutação de Sentido Incorreto/genética , Fatores de Transcrição/genética , Proteínas Supressoras de Tumor/genética , Adolescente , Arginina/genética , Códon/genética , Citosina , Éxons/genética , Feminino , Deformidades Congênitas do Pé/genética , Genótipo , Deformidades Congênitas da Mão/genética , Heterozigoto , Humanos , Melanose/patologia , Fenótipo , Análise de Sequência de Proteína , Timina , Triptofano/genéticaRESUMO
OBJECTIVES: Goldenhar syndrome (GS) is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects. This paper describes GS features with special emphasis on oral characteristics. MATERIAL AND METHODS: The clinical features of 6 patients with GS aged 3 months to 12 years are described, and a brief review of the literature about this genetic disorder is presented. RESULTS: All patients demonstrated the classical triad of GS, including mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformation, and vertebral anomalies. In addition, renal and gastrointestinal abnormalities were observed in 2 patients. Regarding the oral involvement, 2 patients presented cleft lip and palate, and 1 patient had temporomandibular joint malformation. Malocclusion was found in all patients. CONCLUSION: Our orofacial findings correlate with the reported cases in the literature, and point out that after diagnosis GS patients need to be examined for systemic abnormalities.
Assuntos
Assimetria Facial/etiologia , Síndrome de Goldenhar/diagnóstico , Anormalidades Maxilofaciais/etiologia , Criança , Pré-Escolar , Feminino , Síndrome de Goldenhar/complicações , Humanos , Lactente , Masculino , Má Oclusão/etiologia , Mandíbula/anormalidades , Mandíbula/diagnóstico por imagem , RadiografiaRESUMO
Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder of craniofacial development. Major features include midface hypoplasia, micrognathia, microtia, conductive hearing loss, and cleft palate. The present study is on the orofacial features of 7 Brazilian patients with sporadic TCS aged 4 to 38 years. All patients presented the typical down-slanting palpebral fissures, colobomas, zygomatic and mandibular hypoplasia, partial absence of the lower eyelid cilia, and abnormalities of the ears. Malocclusion was present in all patients, and an anterior open bite was found in 3 patients. None of the patients had a cleft palate.
Assuntos
Face/anormalidades , Disostose Mandibulofacial/diagnóstico , Anormalidades da Boca/diagnóstico , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Fenótipo , Adulto JovemRESUMO
OBJETIVO: Avaliar o perfil biopsicossocial de portadores de anoftalmia, com ênfase no impacto psicológico e funcional da perda ocular e na reintegração social dessa população. MÉTODOS: Realizou-se estudo transversal com 84 pacientes (50 do gênero masculino e 34 do feminino), reabilitados ou em processo de reabilitação com próteses oculares, avaliados por meio de questionário que contemplava dimensões como: etiologia da perda ocular, grau de adaptação à prótese e impacto nas atividades profissionais, sociais e escolares. RESULTADOS: O olho direito foi afetado em 45,2 por cento dos pacientes, o olho esquerdo em 51,2 por cento, e os demais apresentavam anoftalmia bilateral. Relataram dificuldade, atual ou já superada, de adaptação à visão monocular 47,5 por cento dos participantes. No gênero masculino as principais causas da anoftalmia foram os traumatismos oculares por acidentes (54 por cento), e no feminino, as doenças adquiridas (38,2 por cento). Na população estudada, a perda ocular ocorreu, em média, aos 20,5 ± 18,4 anos, e o tempo decorrido até a primeira reabilitação protética foi de 8,6 ± 13,1 anos. A maioria dos pacientes (66,1 por cento) relatou satisfação e boa adaptação à prótese ocular. Sentimentos de tristeza, vergonha e timidez foram freqüentemente relatados. CONCLUSÃO: Pacientes com anoftalmia freqüentemente apresentam transtornos psíquicos e/ou funcionais que dificultam sua readaptação ao meio social, profissional e familiar, o que é agravado por fatores econômicos e pela carência de serviços públicos que ofereçam tratamento reabilitador. A realização de campanhas de esclarecimento à população também pode ser útil para a prevenção das causas que levam à perda ocular.
PURPOSE: To evaluate the biopsychosocial profile of patients with anophthalmia, with emphasis on the psychological and functional impact of eye loss and the social reintegration of this population. METHODS: Prospective analyses of 84 patients (50 males and 34 females), rehabilitated or in the rehabilitation process with ocular prostheses were interviewed by means of a questionnaire with dimensions involving the etiology of the ocular defect, degree of adaptation to the ocular prosthesis, and impact on professional, family and social activities. RESULT: The right eye was affected in 45.2 percent of the patients, the left eye in 51.2 percent, and the rest of the patients had bilateral anophthalmia. Difficulty in adapting to monocular vision was reported by 47.6 percent of the patients. The main causes of anophthalmia in males were eye injuries due to accidents (54 percent), and, in females, acquired diseases (38.2 percent). For the total studied population, the eye loss occurred at a mean of 20.5 ± 18.41 years, and the elapsed time until the first rehabilitation with ocular prosthesis was of 8.6 ± 13.10 years. Most patients (66.1 percent) reported satisfaction and good adaptation to the prosthesis. Feelings of sadness, shame and shyness were frequently reported. CONCLUSION: Anophtalmic patients often exhibit psychic and/or functional disorders which hinder their social, professional and family readaptation, and this is aggravated by both economic factors and lack of public services that provide rehabilitative treatment. Public information campaigns could also be useful to prevent causes that lead to ocular loss.
Assuntos
Feminino , Humanos , Masculino , Anoftalmia/psicologia , Olho Artificial/psicologia , Recuperação de Função Fisiológica/fisiologia , Ajustamento Social , Anoftalmia/etiologia , Anoftalmia/cirurgia , Brasil , Estudos Transversais , Traumatismos Oculares/complicações , Satisfação do Paciente/estatística & dados numéricos , Ajuste de Prótese/psicologia , Fatores de TempoRESUMO
Apert syndrome is 1 of the 5 craniosynostosis syndromes that shore clinical features and are caused by allelic mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. The purpose of this paper was to report a case of Apert syndrome, with particular emphasis on craniofacial and genetic features, in a 5-year-old female patient. The patient presented with several craniofacial deformities, including severe brachycephaly, midface hypoplasio, flat forehead, proptosis, hypertelorism, and short nose with a bulbous tip. Syndactylies of the hands and feet were also observed. Intraoral findings included arched palate with pseudocleft in the midline, upper lip with symmetric depression resembling pseudoclefts, severe malocclusion, and several decoyed teeth. DNA sequence and restriction enzyme analysis showed a G to C transversion, resulting in a serine to tryptophan amino acid substitution at position 252 (S252W). Identification of the clinical features associated with mutation analysis is important to correctly diagnose Apert syndrome and distinguish it from other clinically similar craniosynostosis syndromes.
Assuntos
Acrocefalossindactilia/complicações , Anormalidades Craniofaciais/genética , Palato/anormalidades , Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética , Acrocefalossindactilia/genética , Substituição de Aminoácidos/genética , Pré-Escolar , Anormalidades Craniofaciais/complicações , Índice CPO , Fácies , Feminino , HumanosRESUMO
PURPOSE: To evaluate the biopsychosocial profile of patients with anophthalmia, with emphasis on the psychological and functional impact of eye loss and the social reintegration of this population. METHODS: Prospective analyses of 84 patients (50 males and 34 females), rehabilitated or in the rehabilitation process with ocular prostheses were interviewed by means of a questionnaire with dimensions involving the etiology of the ocular defect, degree of adaptation to the ocular prosthesis, and impact on professional, family and social activities. RESULT: The right eye was affected in 45.2% of the patients, the left eye in 51.2%, and the rest of the patients had bilateral anophthalmia. Difficulty in adapting to monocular vision was reported by 47.6% of the patients. The main causes of anophthalmia in males were eye injuries due to accidents (54%), and, in females, acquired diseases (38.2%). For the total studied population, the eye loss occurred at a mean of 20.5 +/- 18.41 years, and the elapsed time until the first rehabilitation with ocular prosthesis was of 8.6 +/- 13.10 years. Most patients (66.1%) reported satisfaction and good adaptation to the prosthesis. Feelings of sadness, shame and shyness were frequently reported. CONCLUSION: Anophtalmic patients often exhibit psychic and/or functional disorders which hinder their social, professional and family readaptation, and this is aggravated by both economic factors and lack of public services that provide rehabilitative treatment. Public information campaigns could also be useful to prevent causes that lead to ocular loss.
Assuntos
Anoftalmia/psicologia , Olho Artificial/psicologia , Recuperação de Função Fisiológica/fisiologia , Ajustamento Social , Anoftalmia/etiologia , Anoftalmia/cirurgia , Brasil , Estudos Transversais , Traumatismos Oculares/complicações , Feminino , Humanos , Masculino , Satisfação do Paciente/estatística & dados numéricos , Ajuste de Prótese/psicologia , Fatores de TempoRESUMO
OBJECTIVE: This report describes the clinical and genetic features of two large and unrelated families with Van der Woude syndrome in Brazil, emphasizing the range of anomalies found within and between the families. PATIENTS: Family 1 included 54 descendants spanning five generations, with 12 (22.23%) individuals manifesting Van der Woude syndrome. In family 2, examinations comprised 17 descendants distributed over four generations, and 8 (47.06%) people presented features of Van der Woude syndrome. RESULTS: In family 1, the first two generations were not affected, but the other three generations had affected members showing a unique association of lip pits and cleft lip/palate with equilibrated gender distribution. In family 2, all generations were affected, and the clinical expression of disease was heterogeneous, including members with isolated clefts, isolated lip pits, and association of cleft lip/palate with lip pits. In both families, affected members transmitted their traits to descendants in an autosomal dominant mode of inheritance with apparent low penetrance in family 1, but high penetrance in family 2. Patients were treated surgically by cheiloplasty and/or palatoplasty with satisfactory results. CONCLUSIONS: Van der Woude syndrome was transmitted by an autosomal dominant pattern with variable expressivity and penetrance and equilibrated gender distribution. Physicians should be aware of the variety of malformations that can be associated with Van der Woude syndrome. Genetic counseling in Van der Woude syndrome affected families is important, because a high percentage of descendants can have some kind of clefting.
Assuntos
Anormalidades Múltiplas/genética , Fenda Labial/genética , Fissura Palatina/genética , Lábio/anormalidades , Penetrância , Brasil , Fenda Labial/complicações , Fissura Palatina/complicações , Feminino , Variação Genética , Humanos , Masculino , Linhagem , Fenótipo , SíndromeRESUMO
As metástases nos maxilares säo de rara ocorrência. Contudo, a literatura recente sugere que a porcentagem de metástases nas cavidades bucal é mais alto do que os estudos anteriores revelaram. O caso apresentado é de uma metástase de carcinoma indiferenciado que apesar dos diversos exames complementares efetuados, näo foi possível determinar sua origem. Na discussäo, procura-se ainda contribuir para uma atualizaçäo sobre o assunto
Assuntos
Humanos , Feminino , Adulto , Carcinoma/patologia , Neoplasias Mandibulares/patologia , OsteóliseAssuntos
Placa Dentária/patologia , Placa Dentária/tratamento farmacológico , Antígenos de Bactérias/isolamento & purificação , /farmacologia , Bactérias Gram-Negativas , Bactérias Gram-Negativas/imunologia , Bactérias Gram-Positivas , Bactérias Gram-Positivas/imunologia , Parede Celular/efeitos dos fármacos , Parede Celular/microbiologia , Diagnóstico Bucal/métodos , Doenças Periodontais/prevenção & controle , Inflamação/classificação , Inflamação/etiologia , Inflamação/patologia , Inflamação/tratamento farmacológico , Placa Dentária/classificação , Placa Dentária/etiologia , Placa Dentária/imunologia , Placa Dentária/microbiologia , Placa Dentária/prevenção & controleRESUMO
O presente trabalho aborda uma revisão da literatura sobre as reabsorções dentárias patológicas, suas principais causas e situações em que ocorrem, bem como os sinais e sintomas clínicos. São enfatizadas as características radiográficas como um meio de diagnóstico diferencial a fim de possibilitar ao clínico um tratamento adequado das mesmas