RESUMO
Durante el crecimiento y desarrollo de la cabeza, ésta lo hace en diferentes direcciones y proporciones, habiendo un límite entre la armonía /desarmonía conocido como umbral. Se hace referencia a este concepto, la forma de escribirlo y leerlo por medio de un código que lo simboliza. Objetivo: Poner al alcance de la comunidad médica un código de lectura e identificación de fenotipos craneofaciales sindrómicos y no sindrómicos. Conclusiones: Se considera que este concepto de umbral craneofacial y su código de lectura pueden ser usados en la enseñanza e investigación de la armonía-desarmonía durante el crecimiento y desarrollo de la cabeza, resultando ser de gran utilidad en la comprensión rápida y sencilla de la lectura del fenotipo craneofacial (AU)
During the growth and development of the head, it does so in different directions and proportions, there being a limit between the harmony / disharmony known as threshold. Reference is made to this concept, the way of writing it and reading it by means of a code that symbolizes it. Objective: To put within reach of the medical community, a code of reading and identification of syndromic and non-syndromic craniofacial phenotypes. Conclusions: It is considered that this concept of a craniofacial threshold and its reading code can be used in the teaching and research of harmony / disharmony during the growth and development of the head, being very useful in the quick and easy comprehension of the reading of the craniofacial phenotype (AU)
Assuntos
Humanos , Fenótipo , Herança Multifatorial , Desenvolvimento Maxilofacial , Prognatismo , Retrognatismo , Cefalometria , Anormalidades Craniofaciais/classificação , Códigos Civis , Estudos de Associação Genética , Cabeça/crescimento & desenvolvimento , Má Oclusão/classificaçãoRESUMO
BACKGROUND: The World Health Organization has recognized the relevance of databases on craniofacial anomalies since . To date, there is no universal standard instrument/database focused on risk factors, clinical and genetic data collection, and follow-up that enables comparison between different populations and genotype-phenotype correlation. Although studies have shown that specific genes would impact outcomes, knowledge is not sufficient to subsidize cost-effectiveness strategies for diagnosis, surgical decision, and a multi-professional approach toward personalized medicine. METHODS: Based on a clinical genetic approach, a Web-based application named CranFlow-Craniofacial Anomalies: Registration, Flow, and Management has been developed. It prospectively collects clinical and genetic information for the Brazilian Database on Craniofacial Anomalies (syndromic and nonsyndromic orofacial cleft, 22q11.2 deletion syndrome, and other craniofacial related disorders). A comprehensive list of CranFlow's features is provided. RESULTS: We present preliminary results on 1546 cases already recorded and followed, which allows recognizing 10% of diagnosis changes. CONCLUSION: The identification of risk factors, consistent genetic approach associated with clinical data and follow-up result in valuable information to develop and improve personalized treatment and studies on genotype-phenotype correlation. Adoption of CranFlow in different clinical services may support comparison between populations. This application has the potential to contribute to improvements in healthcare, quality of services, clinical and surgical outcomes, and the standard of living of individuals with craniofacial anomalies. Birth Defects Research 110:72-80, 2018. © 2017 Wiley Periodicals, Inc.
Assuntos
Anormalidades Craniofaciais/classificação , Brasil/epidemiologia , Bases de Dados Factuais , Estudos de Associação Genética , Humanos , Sistema de Registros , SoftwareRESUMO
Introducción: las clasificaciones sobre las alteraciones cefalogénicas presentan una gran dispersión debido a la multiplicidad de especialidades médicas que intervienen en la región de la cabeza. Objetivo: describir las clasificaciones más relevantes de las malformaciones craneofaciales y proponer una nueva clasificación. Métodos: se realizó un estudio mixto, hermenéutico y cuantitativo descriptivo, durante el cual se analizó la producción de clasificaciones sobre este tema en la Web of Sciences en el periodo comprendido desde 1992 hasta 2012. Luego de seleccionar 263 artículos que trataban este tema se estudiaron 22 de ellos en los que proponían clasificaciones o modificaciones al respecto. Se estudió la región anatómica, el tipo de clasificación, el tipo de malformación que describe y la revista de publicación. Resultados: hubo predominio del tipo de clasificación morfogénica en el 60 porciento, el tipo de malformación mayormente clasificada fue por defecto (fisuras e hipoplasias) en 72 por ciento y la revista con mayor representación de publicaciones sobre clasificaciones de alteraciones cefalogénicas fue TheJournal of Craniofacial Surgery donde se publicaron el 44 por ciento de ellas. Se propuso una clasificación integradora morfo-fisiopatológica y se analizó su validación interna y externa. Conclusiones: se demostró la ausencia de una clasificación que agrupara todas las malformaciones cefalogénicas, que incluyera a todas sus regiones anatómicas y tipos de malformaciones. La clasificación propuesta podría ser de utilidad para las especialidades médicas y estomatológicas afines a esta región anatómica(AU)
Introduction: classifications on cephalic alterations have great dispersion secondary to diversity of medical specialties involved in head region. Objective: to describe relevant classifications in craniofacial malformations and recommend a new classification. Method: was carried out a mixed study: hermeneutic and quantitative descriptive, to analyze the production of this kind of classifications on the Web of Sciences during the years 1992 to 2012. As result 263 papers was find on this topic and 22 papers were selected because provided classifications or modifications in this respect. This research analyzed the anatomical region, the classification type, the type of malformation and the magazine of publication. Results: there was a prevalence of the type of morphogenic classification in 60 percent, the mostly classified malformation type of by defect (fissures and hypoplasia) in 72 percent and the representative magazine of cephalic alterations classifications was the Journal of Craniofacial Surgery where 44 percent of them were published. An integrative morpho-physiopathologic classification was suggested and internal and external validation was analyzed. Conclusions: was demonstrated the absence of any classification that joined all the cephalic malformations of all the anatomical cephalic regions. The recommended classification would being of utility for medical and dentistry specialties related to this anatomical region(AU)
Assuntos
Humanos , Fissuras Dentárias/classificação , Anormalidades Craniofaciais/classificação , Cefalometria/classificação , Anormalidades Maxilofaciais/classificaçãoRESUMO
Las malformaciones craneofaciales son algunas de las patologías más prevalentes en la edad pediátrica. Podemos distinguir dos grandes grupos: las producidas por un cierre precoz de las suturas del esqueleto craneofacial, las craneosinostosis y faciocraneosinostosis; y las que actualmente se pueden considerar neurocrestopatías, como los síndromes de primer y segundo arcos branquiales y las fisuras orofaciales como la fisura labiopalatina. Se describen las principales características de los síndromes más frecuentes y los tratamientos, desde los más empleados a los más innovadores, como las técnicas endoscópicas y las de distracción ósea.
Craniofacial abnormalities are some of the most prevalent malformations in children. We can distinguish two groups: those caused by an early closure of the sutures of the craniofacial skeleton, as craniosynostoses and faciocranioynostosis; and those that are considered neural crest anomalies, like the first and second brachial arch syndromes, and cleft lift and palate. The authors discuss the major characteristics of the most frequent syndromes, as well as treatment modalities, including the most popular and the most recent ones, like endoscopic and bone distraction techniques.
Assuntos
Humanos , Criança , Anormalidades Craniofaciais/cirurgia , Anormalidades Craniofaciais/diagnóstico , Encefalocele , Atrofia , Anormalidades Craniofaciais/classificação , Anormalidades Craniofaciais/etiologia , Fissura Palatina , Disostose Craniofacial , Craniossinostoses , HiperplasiaRESUMO
The no. 0-14 cleft involves the midline of the face and cranium. It may include both a true and a false median cleft lip, with or without associated hypotelorism or hypertelorism. The no. 0 cleft is the most common of the craniofacial clefts. The objective of this study was to review the functional outcome and aesthetic results of the different techniques applied for each case. We have conducted a retrospective analysis of our series consisting of 32 cases of Tessier no. 0 cleft, in the period between 1997 and 2007. The patients were divided into 2 groups: those with the true median cleft and those with the false median cleft. The clinical findings, lip malformation, alveolar cleft, nasal appearance, septal involvement, associated deformities, and surgical procedures, were all reviewed. Holoprosencephaly was present in 9 cases, with a false median cleft upper lip and an absence of the premaxilla, septum, and columella (only 1 patient underwent lip and columella reconstruction at 2 years of age). Nine patients had an incomplete median cleft lip. Seven of these cases had associated median alveolar cleft, and 1 had an intranasal tumor, associated with lipoma of corpus callosum, characteristic of the Pai syndrome. Six cases of a bifid nose were seen, 2 of which were associated with an alveolar median cleft and hypertelorism. An isolated median alveolar cleft was present in 7 cases, 2 of them associated with a no. 30 cleft. This article presents a large series of Tessier no. 0 cleft, describing the differences between the false and the true median cleft. The surgical procedures may vary in relation to the type of involvement.
Assuntos
Anormalidades Craniofaciais/classificação , Anormalidades Craniofaciais/cirurgia , Adolescente , Adulto , Criança , Pré-Escolar , Fissura Palatina/cirurgia , Holoprosencefalia/cirurgia , Humanos , Lactente , Recém-Nascido , Estudos Retrospectivos , Adulto JovemRESUMO
El presente estudio tiene como propósito proponer a la Escuela Cubana de Cirugía Maxilofacial una clasificación que agrupe las malformaciones del neurocráneo y el viscerocráneo y una clasificación integradora de las craneosinostosis, que sea útil para los cirujanos de los equipos multidisciplinarios de cirugía craneofacial. Se realizó una revisión bibliográfica en Internet , en la búsqueda de artículos originales que refirieran las diferentes clasificaciones de las diversas entidades malformativas craneofaciales. Sobre la base del conocimiento de la ausencia de una clasificación al respecto publicada en nuestro país o reconocida por las escuelas cubanas de Neurocirugía, Cirugía Maxilofacial y Pediatría se procedió a la realización de dos clasificaciones, para dar respuesta a los objetivos trazados. Se propone a las especialidades médicas y estomatológicas afines al manejo y tratamiento de deformidades craneofaciales, una clasificación que agrupe las malfor-maciones del neurocráneo y el viscerocráneo y una clasificación integradora de las craneosinostosis, que resulta útil para las especialidades médicas y estomatológicas afines al manejo y tratamiento de deformidades craneofaciales
Assuntos
Anormalidades Craniofaciais/classificaçãoRESUMO
Se realizó un estudio de casos descriptivo-prospectivos, en 34 pacientes elegidos al azar, diagnósticados de disfunciones dolorosas temporo-mandibulares con desplazamientos discales en grados variables, con el objetivo de evaluar clínicamente la eficacia de la artrocentesis temporo- mandibular. Cada paciente se sometió a terapia con férulas miorelajantes 15 días antes y 3 semanas después del proceder terapéutico. El lavado articular se efectuó con jeringa a presión, con 200 ml de solución de lactato ringer, difenhidramina y betametasona. Se realizó medición de Máxima Apertura Bucal (MAO), excursión protusiva, y laterotrusiva, grado de deflexión, y síntoma dolor por escala VAS (pretratamiento y postratamiento) y se evaluó la eficacia del proceder. Se encontró que a las 72 horas postratamiento, la MAO alcanzó cifras promedio de 37mm, la excursión protusiva promedio 8mm y la laterotrusiva 9 mm. El 86por ciento de los proce-deres resultaron exitosos a las 72 horas y a los 6 meses, 95 por ciento
Assuntos
Humanos , Masculino , Feminino , Anormalidades Craniofaciais/classificação , Síndrome da Disfunção da Articulação Temporomandibular/diagnóstico , Síndrome da Disfunção da Articulação Temporomandibular/terapiaRESUMO
La secuencia de Pierre Robin constituye un desafío diagnóstico antenatal, el cual se transforma en un desafío terapéutico posterior al nacimiento por la multiplicidad de presentaciones al asociarse con otros síndromes más o menos complejos que provocan problemas en las decisiones de los distintos actores llamados a evaluar la necesidad de corrección quirúrgica o manejo conservador de los niñosque se presentan en forma esporádica en nuestros hospitales. Esta revisión pretende actualizar en forma sucinta los conocimientos sobre patogenia, fisiopatología, manifestaciones clínicas y herramientas terapéuticas con que se cuenta para enfrentar este cuadro.
Assuntos
Humanos , Obstrução das Vias Respiratórias/etiologia , Obstrução das Vias Respiratórias/terapia , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/terapia , Algoritmos , Anormalidades Craniofaciais/classificação , Síndrome de Pierre Robin/etiologiaRESUMO
OBJECTIVES/HYPOTHESIS: To identify upper airway and craniofacial abnormalities is the principal goal of clinical examination in patients with obstructive sleep apnea-hypopnea syndrome. The aim was to identify anatomical abnormalities that could be seen during a simple physical examination and determine their correlation with apnea-hypopnea index (AHI). STUDY DESIGN: Consecutive patients with obstructive sleep apnea-hypopnea syndrome who were evaluated in a public otorhinolaryngology center were studied. METHODS: Adult patients evaluated previously with polysomnography met the inclusion criteria. All subjects underwent clinical history and otolaryngological examination and filled out a sleepiness scale. Physical examination included evaluation of pharyngeal soft tissue, facial skeletal development, and anterior rhinoscopy. RESULTS: Two hundred twenty-three patients (142 men and 81 women) were included (mean age, 48 +/- 12 y; body mass index, 29 +/- 5 kg/m2; AHI, 23.8 +/- 24.8 events per hour). Patients were distributed into two groups according to the AHI: snorers (18.4%) and patients with sleep apnea (81.7%). Sleepiness and nasal obstruction were reported by approximately half of patients, but the most common complaint was snoring. There was a statistically significant correlation between AHI and body mass index (P <.000), modified Mallampati classification (P =.002), and ogivale-palate (P <.001). The retrognathia was not correlated to AHI, but the presence of this anatomical alteration was much more frequent in patients with severe apnea when compared with the snorers (P =.05). Other correlations with AHI were performed considering multiple factors divided into two groups of anatomical abnormalities: pharyngeal (three or more) and craniofacial (two or more) abnormalities. There was a statistically significant correlation between pharyngeal landmarks and AHI (correlation coefficient [r] = 0.147, P =.027), but not between craniofacial landmarks and AHI. The combination of pharyngeal anatomical abnormalities, modified Mallampati classification, and body mass index were also predictive of apnea severity. CONCLUSIONS: Systematic physical examination that was used in the present study indicated that, in combination, body mass index, modified Mallampati classification, and pharyngeal anatomical abnormalities are related to both presence and severity of obstructive sleep apnea-hypopnea syndrome. Hypertrophied tonsils were observed in only a small portion of the patients. The frequency of symptoms of nasal obstruction was high in sleep apnea patients. Further studies are needed to find the best combination of anatomical and other clinical landmarks that are related to obstructive sleep apnea.