Subject(s)
Humans , Male , Female , Child , Sleep Wake Disorders/etiology , Craniofacial Abnormalities/etiology , Mouth Breathing/complications , Respiration , NoseABSTRACT
En las teorías embriogénicas de las malformaciones del macizo craneofacial es frecuente encontrar explicaciones simplistas, que no aluden a la biología celular, ni molecular de sus fisiopatologías. El propósito de esta investigación fue describir las teorías de la cefalogénesis y sus malformaciones craneofaciales, como requisito para proponerteorías integradoras que favorezcan su mejor comprensión. Se realizó una revisión biobliográfica sobre el tema de la cefalogénesis y las concepciones científicas actuales concernientes a las teorías de las malformaciones congénitas craneofaciales. Se realizó una revisión en Internet, en el periodo comprendido entre diciembre de 2011 y enero de 2012. Se analizaron los artículos de revistas de la Web of Sciences que trataron este tema desde el año 2006 hasta el 2012 en los buscadores Google academico, Hinari, Scopus, Scielo y Medline. Como resultado se obtuvieron 131 artículos que fueron tamizados; pero el estudio se ciñó solo a 43 artículos que enfocaron estas temáticas de manera más integral. Se consideraron reduccionitas o incompletas las teorías hasta ahora expuestas. Por tal motivo se propusieron teorías holístico-sinérgicas de la cefalogénesis y sus malformaciones(AU)
Frequently is possible to find simplistic explanations regarding the embriogenics theories of craniofacial malformations, without any explanation about cellular or molecular biology of this physiopathology process. The purpose of this investigation was to provide elements to allow the understanding of cephalogenesis as to value theories of cephalogenesis and craniofacial malformations and to suggest an integrative theory. A bibliographic study was carried out about cephalogenesis, and current scientific conceptions on theories of craniofacial congenital malformations. An Internet exploring was made during December of 2011 to January of 2012. Was evaluated the Web of Sciences reports related those topics published since 2006 to 2012 in searching as: Academic Google, Hinari, Scopus, Scielo and Medline. Was obtained 131 reports as result they wich were sifted and bounded to 43 papers focused this topic in an integral way. As conclusion was brought up to date cephalogenesis, and their alterations since the knowledge of differents biological levels that participate in cranial grown. It was considered simplistic or incomplete the theories used until now and intended holistic-sinergic theories of cephalogenesis and their malformations(AU)
Subject(s)
Humans , Congenital Abnormalities/physiopathology , Craniofacial Abnormalities/etiology , Maxillofacial Abnormalities/diagnosis , Review Literature as Topic , Internet AccessABSTRACT
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.
Subject(s)
Adolescent , Child , Child, Preschool , Craniofacial Abnormalities/epidemiology , Craniofacial Abnormalities/etiology , Early Diagnosis , Humans , Infant , Infant, Newborn , Intellectual Disability/epidemiology , Intellectual Disability/etiology , Intelligence/classification , Rubinstein-Taybi Syndrome/diagnosis , Rubinstein-Taybi Syndrome/epidemiology , Rubinstein-Taybi Syndrome/etiology , Rubinstein-Taybi Syndrome/therapyABSTRACT
A hipertrofia obstrutiva das tonsilas palatinas e faríngeas está associada à respiração oral e pode levar a desequilíbrios faciais. A adenotonsilectomia parece ser insuficiente para o tratamento quando ocorreram alterações anatômicas. Técnicas ortopédicas faciais auxiliam no restabelecimento morfofuncional. Estudo clínico longitudinal prospectivo objetivou observar alterações craniofaciais após adenotonsilectomia e verificar a importância de associar ortopedia ao tratamento. MATERIAL E MÉTODO: Cinquenta e três crianças de ambos os gêneros, entre 6 e 12 anos, divididas em: Grupo 1, 20 crianças com respiração nasal; Grupo 2, 33 crianças com hipertrofia obstrutiva das tonsilas faríngeas e/ou palatinas, submetidas à adenotonsilectomia. Após a cirurgia, este grupo foi subdividido: Grupo 2A, 16 pacientes não tratados com expansão rápida da maxila; Grupo 2B, 17 pacientes tratados com disjunção maxilar. Foram realizadas medidas cefalométricas em norma frontal e lateral anteriores à cirurgia e após 14 meses. Foram utilizados os testes Kruskal-Wallis e Wilcoxon, com nível de significância de 5%. RESULTADOS: A adenotonsilectomia equilibrou o crescimento transversal, sagital e vertical em ambos os grupos, sendo mais efetiva no grupo submetido ao tratamento combinado. CONCLUSÕES: A adenotonsilectomia favoreceu o crescimento facial das crianças com hipertrofia obstrutiva, sendo mais evidente quando associada à expansão maxilar.
Obstructive hypertrophy of the tonsils and/or adenoids is associated with mouth breathing and can lead to facial imbalances. Adenotonsillectomy is not enough to treat the anatomic changes. Facial orthopedic techniques aid in morphological and functional recovery. This prospective longitudinal clinical study aimed to observe craniofacial changes after adenotonsillectomy and to verify the importance of linking rapid maxillary expansion to treatment. METHOD: Fifty-three children of both genders, aged 6 to 12 years, were allocated to: Group 1, 20 children with nasal breathing; and group 2, 33 children with obstructive hypertrophy of pharyngeal and/or palate undergoing adenotonsillectomy. After surgery, this group was subdivided into Group 2A, 16 patients not treated with rapid maxillary expansion; and Group 2B, 17 patients treated with maxillary rapid expansion. Frontal and lateral cephalometric measurements were made prior to surgery and after 14 months. Statistical analysis used the Kruskal-Wallis and Wilcoxon tests - significance level of 5%. RESULTS: Adenotonsillectomy balanced transversal, sagittal and vertical growth in both groups, and was more effective in the group undergoing combined treatment. CONCLUSIONS: Adenotonsillectomy improved the facial growth of children with obstructive hypertrophy, which was more evident when associated with rapid maxillary expansion.
Subject(s)
Child , Female , Humans , Male , Craniofacial Abnormalities/surgery , Malocclusion/surgery , Mouth Breathing/surgery , Palatal Expansion Technique , Adenoidectomy , Case-Control Studies , Cephalometry , Craniofacial Abnormalities/etiology , Hypertrophy/complications , Longitudinal Studies , Malocclusion/complications , Mouth Breathing/etiology , Prospective Studies , Palatine Tonsil/pathology , TonsillectomyABSTRACT
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.
Subject(s)
Humans , Child , Craniofacial Abnormalities/surgery , Craniofacial Abnormalities/diagnosis , Encephalocele , Atrophy , Craniofacial Abnormalities/classification , Craniofacial Abnormalities/etiology , Cleft Palate , Craniofacial Dysostosis , Craniosynostoses , HyperplasiaABSTRACT
INTRODUÇÃO: cada vez mais se descobre que os genes têm papel fundamental na etiologia dos problemas craniofaciais, no entanto, o conhecimento das bases da genética humana ainda está muito distante da prática diária do cirurgião-dentista clínico. OBJETIVO: o objetivo deste trabalho é ser uma fonte de consulta, provendo o leitor com conceitos e nomenclaturas pertinentes à área da genética humana. METODOLOGIA: os autores apresentam e revisam os principais tópicos relacionados à genética investigativa, sobretudo no que diz respeito às doenças ou distúrbios multifatoriais e complexos que alteram o processo normal de crescimento e desenvolvimento craniofacial. RESULTADOS E CONCLUSÕES: é essencial que esses profissionais se atualizem para poder acompanhar os progressos atuais e futuros, tanto na área clínica investigativa quanto na área das pesquisas moleculares laboratoriais.
INTRODUCTION: New researches show the important role played by genes in the etiology of craniofacial problems. In spite of that, knowledge of the basis of Human Genetics is still very far from the daily practice of clinical dentists. AIM: The main aim of this paper is to serve as a valuable source of information on Genetics for readers, supplying them with the main concepts and nomenclature in this field. METHODS: The authors provide an overview of central concepts and topical issues in modern genetic investigation, with special attention to the complex and multifactorial disorders that disturb the normal process of craniofacial growth and development. RESULTS AND CONCLUSION: It is indispensable for updated clinical dentists to have at least a basic knowledge about the basis of Human Genetics in order to follow its current and future progresses in both areas: clinical investigative and Molecular Genetics.
Subject(s)
Craniofacial Abnormalities/etiology , Craniofacial Abnormalities/genetics , Skull/growth & development , Genetics, Medical/trends , Orthodontics/trendsABSTRACT
OBJETIVO: esse artigo tem como objetivo ser uma fonte de informação acerca das técnicas e análises genéticas mais utilizadas em investigações clínicas e laboratoriais visando a identificação e a caracterização de genes relacionados a doenças ou distúrbios complexos, especialmente os que atingem as estruturas do crânio e da face. METODOLOGIA: são traçadas algumas diretrizes para guiar os futuros pesquisadores nos processos de seleção de amostras e obtenção de heredogramas para estudos genéticos e fornecidos conceitos e princípios gerais que norteiam métodos de análises genéticas. Tais métodos exigem conhecimento a respeito de transmissão gênica, genética molecular e utilização de marcadores moleculares, assim como envolvem o domínio de técnicas laboratoriais como, por exemplo, reações de polimerização em cadeia (PCR), eletroforese e seqüenciamento de DNA. RESULTADOS E CONCLUSÕES: as análises genéticas, em especial as análises de segregação e de ligação, representam importantes ferramentas à disposição dos pesquisadores na tentativa de relacionar fenótipos a genes específicos e na busca da exata localização cromossômica dos mesmos. Espera-se com esse artigo que os cirurgiões-dentistas clínicos possam começar a perceber a importância do assunto e buscar se aprofundar nessa área.
AIM: The aim of this paper is to inform the reader about genetic techniques and analysis used in clinical and laboratorial investigations for the identification and characterization of the genetic determinants for complex disorders, especially those that attain craniofacial structures. METHODS: General concepts and principles of important methods of genetic analysis are given as well as some guidelines for future researchers, concerning sample gathering and pedigrees construction. These methods described here require knowledge about genetic transmission, molecular genetics and DNA markers, and involve the ability to deal with the current laboratorial techniques, including polymerase chain reactions, agarose or polyacrilamide gel and the use of DNA sequencers. RESULTS AND CONCLUSIONS: Those genetic analysis, mainly the segregation and the linkage analysis, are considered important tools in the attempt to make the relationship between some phenotypes and specific genotypes, and to search for the exact chromosomal localization of each one of these genes. The knowledge of these information can help clinical dentists to understand the important role played by genetics, leading them to get deeper into the subject.
Subject(s)
Craniofacial Abnormalities/etiology , Craniofacial Abnormalities/genetics , Skull/growth & development , Genetics, Medical/trends , Orthodontics/trendsABSTRACT
Paciente femenina de 15 horas, con control prenatal inadecuado, producto de un parto pretérmino secundario a sufrimiento fetal agudo por posición distónica y oligoaminios absoluto que cursa con insuficiencia respiratoria severa y Secuencia de Potter que por la gravedad de la patología fallece.
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Pregnancy Complications , Respiratory Insufficiency , Craniofacial Abnormalities/diagnosis , Craniofacial Abnormalities/etiology , Lung Diseases/diagnosis , Lung Diseases/etiology , Costa RicaABSTRACT
Paciente de 24 anos, sexo feminino, portadora de sinais característicos da Displasia Cleidocraniana foi submetida a exames clínico e radiográfico, os quais evidenciaram anormalidades na aparência física e constituição esquelética da mesma, confirmando a suspeita diagnóstica. O tratamento proposto foi excisão cirúrgica de numerosos dentes inclusos, para viabilizar posterior reabilitação protética. A peça cirúrgica foi encaminhada para exame histopatológico, para avaliar a presença de lesão cística e possíveis distúrbios na constituição morfológica dos dentes removidos. Diante da raridade desta síndrome, este artigo objetiva relatar os aspectos gerais da doença e a terapêutica utilizada
Subject(s)
Humans , Female , Craniofacial Abnormalities/etiology , Craniofacial Abnormalities/pathology , Maxillofacial Abnormalities/pathology , Cleidocranial Dysplasia , Cleidocranial Dysplasia/therapy , Bone Diseases/etiology , Bone Diseases/pathology , Dentigerous Cyst/pathology , Dentigerous CystABSTRACT
Se presenta un caso de síndrome de Brida amniótica que es una malformación congénita caracterizada por la formación de bandas fibrosas derivadas del amnios y que comprimen y estrangulan partes fetales especialmente cráneoencefálicas y de las extremidades. La etiopatogenia es desconocida y se descarta la participación de factores genéticos. Las formas menores son susceptibles de fetocopia y compatibles con la sobrevida. Las formas severas son incompatibles con la vida.
Subject(s)
Male , Humans , Female , Pregnancy , Infant, Newborn , Limb Deformities, Congenital/etiology , Amniotic Band Syndrome/diagnosis , Amniotic Band Syndrome/physiopathology , Craniofacial Abnormalities/etiology , Umbilical Cord/abnormalities , Abdominal Wall/abnormalities , Amniotic Band Syndrome/complications , Amniotic Band Syndrome/epidemiology , Viscera/abnormalitiesABSTRACT
Proteus syndrome, which is a reference to the ancient Greek god Proteus, the Polymorphous, was called to the attention of pediatricians. Recognition of this syndrome has been difficult because of the variability of the syndrome's manifestations and because of its rarity. We describe a rare case of Proteus syndrome and we discuss its differential diagnosis. Our case presents with hemi facial hypertrophy, scrotal tongue, enamel hyperplasia as well as differential in the size of the dentition on both sides of the arch.
Subject(s)
Child , Craniofacial Abnormalities/etiology , Early Diagnosis , Facial Asymmetry/etiology , Humans , Male , Odontometry , Proteus Syndrome/complications , Tongue/abnormalities , Tooth Abnormalities/etiologyABSTRACT
De la cumbre del volcán Llullaillaco en los Andes argentinos fueron recuperdas tres momias de época Inca, de quinientos años de antiguedad, presevadas por congelamiento y pertenecientes a víctimas de una ceremonia de sacrificio humano. Los estudios odontológicos realizados en dichas momias tuvieron como objetivo la determinación de la edad de los individuos al momento de su deceso; la evaluación de la dentición y sus patologías y el análisis cefalométrico de la morfología craneofacial de los tres niños. Entre los materiales y métodos seleccionados se emplearon radiografías y telerradiografías, así como examen visual directo en el únioc caso de que este último procedimiento resultó aplicable. Los resultados de la determinación de edad dentaria, estimada con el auxilio de la tabla de Carmen Nolla, permitieron establecer que la niña más pequeña tenía seis años al momento de su muerte; el niño siete y la doncella, quince. Los tres individuos no presentan patologías dentarias apreciables en la interpretación radiográfica. El niño y la niña de menor edad evidencian excesiva abrasión dentaria con facetamientos oclusales, compatible con una dieta basada en harinas de granos duros con partículas de sílice incoportadas durante la molienda. Se ha indicado que la abrasión dentaria en infantes también puede estar relacionada con el bruxismo (apretamiento o rechinamiento dental) o con la presencia de parásitos (oxiuros). Los estudios cefalométricos revelan una oclusión dentaria ideal para la doncella de Llullaillaco y alteraciones en la oclusión en los dos niños más pequeños, así como biprotrusión generalizada en los tres casos. En los dos individuos infantiles se han advertido también deformaciones craneales interncionales. En las discusiones, se ha puesto de manifiesto que la interpretación arqueológica de los resultados de los estudios odontológicos de las momias de Llullaillaco contribuye a aumentar la comprensión de las ceremonias incaicas de sacrificios humanos que hasta el momento eran conocidas principalmente por referencias históricas y no a través del estudio interdisciplinario de la evidencia bioantropológica provista por las momias congeladas
Subject(s)
Humans , Male , Adolescent , Female , Craniofacial Abnormalities/diagnosis , Mummies , Tooth Diseases , Tooth Abrasion/diagnosis , Tooth Abrasion/etiology , Craniofacial Abnormalities/etiology , Argentina , Bruxism , Cephalometry , Dental Occlusion , Age Determination by Teeth/methods , Indians, South American , Mummies , Paleontology , Tooth Loss/diagnosis , Radiography, Panoramic/methods , ToothABSTRACT
El propósito de este estudio realizado en los pacientes con síndrome de hipe-inmunoglobulinemia E con infecciones recurrentes (SHIEIR) fue analizar por medio de radiografías cefálica lateral y posteroanterior de cabeza, las características cefalométricas comunes entre ellos. También se realizaron mediciones antropométricas cranofaciales, para luego compararlas con estándares internaciones y de esta manera, junto con el análisis radiográfico, definir con mayor exactitud las características craneofaciales de estos pacientes. En 8 pacientes entre tres y veintún años, con niveles de inmunoglobulina E (IgE) sérica mayorees de 2000 UI/mL y con historia típica de SHIEIR (según criterios OMS), se realizaron historia clínicas estomatológicas, RX periapicales, panorámicas, cefálicas laterlaes y frontales, estudios fotográficos, modelos en yeso y mediciones antropométricas. Como característica cefalométrica común se encontró que todos los pacientes tenían el ángulo goníaco aumentado; no se encontraron asimetrías marcadas que comprometieran clínica o estéticamente a los pacientes. En cuanto a las mediciones antropométricas, se encontró aumento en la distancia intercantal interna, intercantal externa, amplitud nasal y longitud nasal en los pacientes con SHIEIR en edad de crecimiento
Subject(s)
Humans , Male , Child, Preschool , Adolescent , Adult , Female , Craniofacial Abnormalities/etiology , Cephalometry , Job Syndrome/complications , Job Syndrome/epidemiology , Job Syndrome/pathology , Craniofacial Abnormalities , Anthropometry , Colombia , Models, Dental , Medical Records , Nose , Radiography, Dental , Radiography, Panoramic , Reference Standards , Immunologic Deficiency Syndromes/epidemiology , Immunologic Deficiency Syndromes/etiology , World Health OrganizationABSTRACT
Se estudiaron 9 casos de displasia fibrosa: cinco hembras y cuatro varones, de los cuales 7 eran menores de 18 años. En el motivo de consulta se hallaron 4 protrusiones frontales derechas, dos protrusiones frontales izquierdas y 3 casos con exoftalmo izquierdo. En todos los casos se observaron combinaciones de densificación con hipodensidad. Las radiografías y particularmente la tomografía computada mostraba extensión de la lesión a huesos vecinos. El tratamiento en todos fue cirugía estética o correctiva en espera de llegar a la edad de la adolescencia para evaluar la marcha del proceso y decidir cirugías correctivas definitivas