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1.
J Craniofac Surg ; 32(3): 1037-1041, 2021 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-34779597

RESUMO

ABSTRACT: Maxillonasal dysplasia or Binder syndrome is an uncommon condition. It is a congenital disease characterized by undergrowth of the central face and may include elements of the nose and upper jaw. The hallmark of the deformity is a retruded mid-face and an extremely flat nose. The timing and the surgical approaches for management of such deformity are still controversial. In this paper, we are going to present our experience in management of Binder syndrome in children. Seven children ranging in age from 6 to 13 years with classic features of Binder syndrome were operated upon in this study. The surgical approach was done at an early age and included 3 main components; nasal dorsum augmentation by costal cartilage graft, maxillary augmentation by rib grafts and columellar reconstruction by VY-plasty and strut grafts. Patients were followed for up to 6 years. Excellent results were obtained in all patients with this surgical procedure. Half of our patients required more than 1 surgery but none of them required any secondary orthognathic surgery. Therefore, we recommend that children with Binder syndrome should be managed at an early age at least for correction of their nasal deformities. Maxillary augmentation can also be done simultaneously or delayed for a second stage. During the second stage, further nasal augmentation can be accomplished. Definitive orthognathic surgeries have to be postponed to adolescence. This strategy can dramatically improve the patient aesthetic and alleviate the psychological upset without much disturbance of the facial growth.


Assuntos
Implantes Dentários , Anormalidades Maxilofaciais , Adolescente , Criança , Estética Dentária , Humanos , Anormalidades Maxilofaciais/cirurgia , Septo Nasal
2.
Hua Xi Kou Qiang Yi Xue Za Zhi ; 39(3): 255-259, 2021 Jun 01.
Artigo em Inglês, Chinês | MEDLINE | ID: mdl-34041872

RESUMO

The maxillofacial skeleton is the basis of the contour of the face. Orthognathic surgery and facial contouring surgery change jaw tissue and affect facial appearance in different manners. Orthognathic surgery is the main method to correct dental and maxillofacial deformities. It changes the shape of the jaw and improves the occlusal relationship by changing the three-dimensional position of the jaw. Facial contouring surgery mainly adopts the method of "bone reduction", which changes the "amount"of the jawbone by cutting a part of the bone tissue to improve the facial appearance, generally without changing oral function. The combined use of orthognathic surgery and facial contouring surgery is becoming increasingly common in clinical practice. This also requires oral and maxillofacial surgeons to have a holistic consideration of the comprehensive correction of maxillofacial bone deformity, and to perform comprehensive analysis of jaw deformities and jaw plastic surgery to achieve the most ideal results. The author's team has been engaged in the clinical work of orthognathic surgery and facial contouring surgery and accumulated rich clinical experience in the comprehensive correction of maxillofacial bone deformity. In this article, the indications, treatment goals, treatment modes, treatment methods, and key points in the surgical operations of comprehensive maxillofacial bone surgery were summarized.


Assuntos
Anormalidades Maxilofaciais , Cirurgia Ortognática , Procedimentos Cirúrgicos Ortognáticos , Face/cirurgia , Ossos Faciais , Humanos
3.
Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi ; 35(4): 371-374;379, 2021 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-33794641

RESUMO

Children with microtia are often associated with maxillofacial dysostosis, such as Treacher Collins syndrome, Goldenhar syndrome, and Nager syndrome, and they are prone to suffer from obstructive sleep apnea(OSA). Obstruction widely occurred in the upper airway is the main mechanism of OSA in these children, and dysplasia of the pharynx and neurodevelopmental abnormalities may also participate. Early diagnosis requires symptom screening and polysomnography. Imaging techniques and endoscopy can be adopted to fully assess the upper airway status to guide further treatment. According to the child's condition and the main obstruction site, treatment methods include maxillofacial deformity correction, continuous positive pressure ventilation and tracheotomy. OSA in microtia children with maxillofacial dysostosis needs to be identified and treated in time to reduce the adverse effects on the growth and development of children.


Assuntos
Microtia Congênita , Disostose Craniofacial , Anormalidades Maxilofaciais , Apneia Obstrutiva do Sono , Criança , Anormalidades do Olho , Humanos , Distúrbios da Fala
4.
J Med Life ; 14(1): 21-31, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33767781

RESUMO

Patients whose with facial appearance involves dental anomalies and malocclusion face an increased prevalence of various psychosocial problems such as a high level of social anxiety, social avoidance, and low quality of life. This study investigates the patients with craniofacial anomalies and their psychological adjustment concerning the facial and dental appearance. It also evaluates the expectations of this patient group from the orthodontic treatment. Two steps were done in this study. In the first step, translation and validation of the Derriford Appearance Scale (DAS59), The Psychosocial Impact of Dental Aesthetics Questionnaire (PIDAQ), and Patient Expectation from the Orthodontic Treatment (PEOTQ) questionnaires into Maithili were done, and then the main study was conducted using these valid questionnaires. This was a cross-sectional study conducted on the patients with congenital craniofacial anomalies visiting the orthodontics department of Patna Dental College and Hospital, Patna (Bihar). All the patients received the Maithili DAS, Maithili PIDAQ and Patients' Expectation from the orthodontic treatment questionnaires. The Maithili version of DAS59, PIDAQ and PEOTQ were developed with outstanding reliability and validity. A significant difference between PIDAQ (p<0.001) and DAS59 scores (p<0.001) was found. In females, the total PIDAQ score was significantly higher as compared to males, but there was no association of DAS scores with gender. Place of residence showed no association with PIDAQ and DAS59 scores in patients. Patients and controls had significant differences between various items, and a comparison was made in terms of expectation from the orthodontic treatment. Altered facial and dental appearance in patients with craniofacial anomalies showed a significant psychological impact.


Assuntos
Má Oclusão/psicologia , Anormalidades Maxilofaciais/psicologia , Ortodontia , Adolescente , Adulto , Estudos de Casos e Controles , Estudos Transversais , Escolaridade , Estética Dentária , Feminino , Seguimentos , Humanos , Masculino , Má Oclusão/terapia , Reprodutibilidade dos Testes , Inquéritos e Questionários , Adulto Jovem
5.
PLoS One ; 16(2): e0247027, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33617540

RESUMO

BACKGROUND: Maxillary protraction with or without expansion is a widely known orthopedic treatment modality in growing skeletal Class III patients. However, limited data are available regarding the outcomes of long-term changes in the maxilla. Aim of this meta-analysis was to assess the effectiveness of the long-term maxillary anteroposterior changes following a facemask therapy with or without rapid maxillary expansion in growing skeletal Class III patients. METHODS: A comprehensive literature search was conducted using the databases of PubMed, Science Direct, Web of Science, and Embase. Randomized controlled trials and cohort studies, published up to Sep. 2020, with maxillary protraction and/or expansion as keywords were included in this meta-analysis. Risk of bias within and across studies were assessed using the Cochrane tools (RoB2.0 and ROBINS-I) and GRADE approach. Overall and subgroup comparisons with the random-effect model were performed in this meta-analysis. Meta-regression models were designed to determine potential heterogeneity. RESULTS: There was a statistically significant increase (Mean difference, 2.29°; 95% confidence interval, 1.86-2.73; and p < 0.001 after facemask (FM) protraction. Mean difference, 1.73°; 95% confidence interval, 1.36-2.11; and p < 0.001 after rapid maxillary expansion(RME) and facemask protraction) in the Sella-Nasion-A point (SNA) angle in the treatment groups as compared with the control groups, when measured during the less than 3-year follow-up period. However, no statistically significant changes (Mean difference, 0.28°; 95% confidence interval, -0.57-1.13; and p = 0.52 after facemask protraction. Mean difference, 0.34°; 95% confidence interval, -0.64-1.33; and p = 0.50 after rapid maxillary expansion and facemask protraction) were observed in the SNA angle in the groups, when measured after 3 years of follow-up. Meta-regression analysis also showed that with increased follow-up duration, the effectiveness of maxillary protraction decreased. CONCLUSION: This meta-analysis revealed that maxillary protraction therapy could be effective for a short-term in correcting maxillary hypoplasia and the treatment result was not affected by mean age and sex. However, with increased follow-up duration, the sagittal maxillary changes gradually decreased. Limitations on this review were only the SNA angle was used and clinical heterogeneity was not discussed. The quality of evidence was moderate. Further long-term observational studies are necessary for a comprehensive evaluation of the effects on maxillary skeletal changes.


Assuntos
Má Oclusão Classe III de Angle/terapia , Anormalidades Maxilofaciais/terapia , Ortodontia Corretiva , Humanos , Técnica de Expansão Palatina , Retrognatismo/terapia , Resultado do Tratamento
6.
Eur J Ophthalmol ; 31(2): NP12-NP14, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31771345

RESUMO

Bilateral Tessier cleft types 3 and 4 are rare and commonly involve the lacrimal drainage system owing to their anatomical location. Such clefts commonly present with associated ocular anomalies and include colobomatous eyelids, hypertelorism, microphthalmia, punctal or canalicular agenesis, and nasolacrimal duct obstruction or exstrophy. The current report presents an 18-month-old baby with bilateral Tessier cleft 3 with a unilateral anophthalmos, symmetrical eyelid colobomas, and lacrimal drainage anomalies. The lacrimal anomalies noted include small lacrimal sac with inferior canaliculus on the right side and upper and lower punctal and canalicular agenesis on the left side. Computed tomographic dacryocystography demonstrated unilateral lacrimal sac and bilateral maldevelopment of the bony nasolacrimal duct.


Assuntos
Anoftalmia/complicações , Fenda Labial/complicações , Coloboma/complicações , Pálpebras/anormalidades , Doenças do Aparelho Lacrimal/congênito , Anormalidades Maxilofaciais/complicações , Ducto Nasolacrimal/anormalidades , Anoftalmia/diagnóstico por imagem , Anoftalmia/cirurgia , Fenda Labial/cirurgia , Coloboma/diagnóstico por imagem , Coloboma/cirurgia , Dacriocistorinostomia , Pálpebras/diagnóstico por imagem , Pálpebras/cirurgia , Humanos , Lactente , Doenças do Aparelho Lacrimal/diagnóstico por imagem , Doenças do Aparelho Lacrimal/cirurgia , Masculino , Anormalidades Maxilofaciais/cirurgia , Ducto Nasolacrimal/diagnóstico por imagem , Ducto Nasolacrimal/cirurgia , Procedimentos Cirúrgicos Reconstrutivos , Tomografia Computadorizada por Raios X
7.
J Craniofac Surg ; 32(1): e5-e8, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-32694479

RESUMO

ABSTRACT: Binder Syndrome occurs in less than 1 per 10,000 live births. Mean features of the syndrome include arhinoid face, abnormal position of the nasal bones, intermaxillary hypoplasia with associated malocclusion, reduced or absent anterior nasal spine, atrophy of the nasal mucosa and absence of the frontal sinus. Treatment of these facial deformities is obviously surgical. In the present work, the authors describe, step by step, their technique in secondary rhinoplasty in a 36-years-old patient affected by Binder Syndrome. In this case, the authors used autologous cartilage graft and heterologous bone graft.Satisfying results are achieved in 12 months of follow-up: graft resorption is acceptable, position of the graft is stable, the authors have no signs of infection and the patient is satisfied with the aesthetical and functional results. The authors believe that the first option, in complex nose's reconstruction, is the use of autologous grafts but, the use of cartilage heterologous bone graft should be taken in account, in the future, as a secondary option in Binder Syndrome and in malformed patients.


Assuntos
Anormalidades Maxilofaciais , Rinoplastia , Adulto , Humanos , Anormalidades Maxilofaciais/cirurgia , Nariz/cirurgia , Estudos Retrospectivos
9.
J Plast Reconstr Aesthet Surg ; 74(1): 223-243, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32978114

RESUMO

Nasomaxillary hypoplasia is a rare congenital malformation involving the middle third of the face. The present paper describes a novel technique for restoring the nasal projection in a patient with nasomaxillary hypoplasia, analyses its advantages and limitations, and discusses its potential applicability in other similar contexts. After orthognathic surgery, lateral osteotomies of the nasal bones were performed integrally with a piezoelectric device using a long cutting saw tip through the intraoral approach. The nasal bones were then projected by interpositioning two triangular-shaped collagenated cancellous bone graft blocks on each side in the osteotomies between the nasal and the frontal processes of the maxillary bones. Cone-beam computed tomography (CBCT) data was used to perform a morphometric analysis at one and 12 months of follow-up through image superimposition, which revealed a stable increased projection of the nasal dorsum and an anterior nasal spine (ANS) of 5.18 mm and 5.52 mm, respectively. The results of this case suggest that the technique affords satisfactory nasal dorsum augmentation while avoiding the use of permanent foreign materials, with minimal morbidity, no unsightly and visible scars, great patient satisfaction, and adequate stability at 12 months of follow-up.


Assuntos
Anormalidades Maxilofaciais/cirurgia , Nariz/anormalidades , Nariz/cirurgia , Rinoplastia/métodos , Osso Esponjoso/transplante , Colágeno/uso terapêutico , Feminino , Humanos , Procedimentos Cirúrgicos Ortognáticos , Adulto Jovem
10.
J Clin Ultrasound ; 49(2): 110-116, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33289128

RESUMO

PURPOSE: This retrospective study aims to determine whether the maxilla-mandible-nasion (MMN) angle can be reliably measured in the first trimester, to describe normal ranges, and to determine if significant changes occur in foetuses with aneuploidies. METHODS: The MMN angle was measured in stored 2D-ultrasound images of 200 normal fetal profiles between 11+0 and 13+6 weeks of gestation. Each image was analyzed by two observers at two independent time points. Bland-Altmann analysis was performed to evaluate the reliability of the measurements. Additionally, the MMN angle was measured on sonograms from 140 aneuploid foetuses. RESULTS: The mean MMN angle in normal foetuses from 11 to 14 weeks of gestation was 15.4°. Reliability of the measurement was high when repeatedly measured by the same observer (ICC = 0.92 and 0.82) and between two observers (ICC = 0.77 and 0.63). Average MMN values in foetuses with trisomy 21, 13, and Turner syndrome were significantly higher than those measured in normal foetuses. The highest differences were observed in foetuses with trisomy 13. Among those, 62% had an MMN angle above the 95th percentile and 92% above the normal mean. CONCLUSION: The MMN angle can be reliably measured in early pregnancy and is abnormal in about 60% of foetuses with trisomy 13.


Assuntos
Aneuploidia , Pesos e Medidas Corporais/métodos , Mandíbula/diagnóstico por imagem , Maxila/diagnóstico por imagem , Anormalidades Maxilofaciais/diagnóstico por imagem , Nariz/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Adulto , Feminino , Humanos , Mandíbula/embriologia , Maxila/embriologia , Nariz/embriologia , Gravidez , Primeiro Trimestre da Gravidez , Reprodutibilidade dos Testes , Estudos Retrospectivos
11.
Acta otorrinolaringol. cir. cabeza cuello ; 49(3): 199-206, 2021. ilus, tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1292711

RESUMO

Introducción: la anquilosis temporomandibular se caracteriza por la limitación en la apertura bucal, lo que conlleva alteraciones estéticas, de la masticación, el lenguaje y respiratorias. El objetivo del reporte es describir las características clínicas de los pacientes y evaluar resultados del tratamiento quirúrgico para la anquilosis temporomandibular. Materiales y métodos: presentamos un estudio observacional, descriptivo y retrospectivo en el que se revisaron las historias clínicas e imágenes de todos los pacientes operados de anquilosis de la articulación temporomandibular desde enero 2008 a diciembre de 2016. Resultados: se intervinieron 44 casos, cuya etiología principal eran los traumatismos (70,5 %), con predominio femenino en el 77,3 % de los casos y la presentación unilateral como la más frecuente con el 70,5 % del total. La edad de mayor frecuencia de presentación fue entre 6 a 10 años con el 47,7 % de los casos. La cirugía más realizada fue la condilectomía con coronoidectomía en el 79,5 % de los casos. Como complicación más frecuente se encontró la parálisis de la rama palpebral en el 13,7 %, y obteniendo un 6 % de recidiva. Discusión: los resultados presentados son similares a otras publicaciones, ya que se reprodujo el tratamiento protocolizado mundialmente y no se encontraron diferencias significativas en cuanto a etiología, edad, tratamiento realizado y complicaciones. Conclusiones: la anquilosis temporomandibular es una patología que requiere de un tratamiento quirúrgico que logre la resección del bloque anquilótico, así como la asociación de otras técnicas quirúrgicas como la realización de un colgajo para disminuir la posibilidad de recidiva y distracción ósea para restablecer la anatomía mandibular.


Introduction: Temporomandibular ankylosis limits the mandibular function, decreasing the buccal opening, with aesthetic alterations as well as chewing language and even respiratory disfunction. Objective: To describe the patients clinical paticularities and evaluate the surgical treatment results for this pathology. Design: Observacional, descriptive and retrospective study. Methods: We reviewed the medical histories and images of all the patients who underwent temporomandibular ankylosis release from January 2008 to December 2016. Results: It involved 44 cases, being the main etiology injuries in a 70.5%, with predominance of the female sex in the 77.3% and the unilateral presentation with the 70.5% of the cases. Ages between 6 to 10 years were the most frequent ones with 47.7%. The surgery most performed was the condilectomia with coronoidectomy in 79.5% of the cases. The most frequent complication was the palpebral branch paralysis in 13.7% and we had a 6% of ankylosis recurrence. Discussion: Our results are similar to other publications when reproducing the worldwide protocolized treatment, without finding significant differences in terms of etiology, age of presentation, treatment carried out and complications. Conclusions: Temporomandibular ankylosis is a condition that requires surgical treatment, which is aimed to anatomical and functional restoration. Wide bone resection complemented with other surgical techniques such as flap interposition to minimize the relapse possibility and bone distraction to restore the mandibular anatomy.


Assuntos
Humanos , Anquilose , Pediatria , Anormalidades Maxilofaciais , Mandíbula
12.
Medisur ; 18(6): 1233-1240, nov.-dic. 2020. graf
Artigo em Espanhol | LILACS | ID: biblio-1149426

RESUMO

RESUMEN El síndrome de Axenfeld-Rieger es una enfermedad de origen genético de muy baja prevalencia que se hace acompañar de manifestaciones clínicas variables con afectación ocular y no ocular. Por tales razones se decidió presentar el caso de una paciente de 14 años de edad, antecedente familiar (en este caso su madre) de dicha enfermedad, con historia de retraso mental ligero, hipoacusia y mala visión en ambos ojos que se acompaña de alteraciones oculares: malformaciones a nivel del segmento anterior: deformidad de la pupila, prominencia blanquecina perilímbica que se corresponde con un embriotoxón posterior. Presenta otros signos de afectación no oculares: dismorfismo craneofacial leve, hipertelorismo, hipoplasia maxilar con aplanamiento del tercio medio facial, frente prominente, puente nasal ancho y aplastado así como anomalías dentales. Sufre complicaciones propias de la evolución de la entidad como es el glaucoma secundario, por lo que se trató con triple terapia con hipotensores oculares, en espera de la respuesta al tratamiento para, en el caso de una evolución tórpida, proceder al tratamiento quirúrgico: trabeculectomía.


ABSTRACT Axenfeld-Rieger syndrome is a very low prevalence disease of genetic origin that is accompanied by variable clinical manifestations with ocular and non-ocular involvement. For these reasons, it was decided to present the case of a 14-years-old patient with a family history (in this case her mother) of this disease, with a history of mild mental retardation, hearing loss and poor vision in both eyes that is accompanied by ocular alterations: malformations at the level of the anterior segment: pupil deformity, perilimbic whitish prominence corresponding to a posterior embryotoxon. He presents other non-ocular signs of involvement: mild craniofacial dysmorphism, hypertelorism, maxillary hypoplasia with flattening of the midface, prominent forehead, wide and flattened nasal bridge, as well as dental anomalies. He suffers from complications inherent to the evolution of the entity, such as secondary glaucoma, for which he was treated with triple therapy with ocular hypotensive agents, pending the response to treatment, and in the case of a torpid evolution, proceed to surgical treatment: trabeculectomy.


Assuntos
Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/genética , Anormalidades Maxilofaciais/diagnóstico , Doenças Genéticas Inatas/diagnóstico
13.
J Med Life ; 13(3): 418-425, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33072218

RESUMO

The study aimed to investigate whether a 3D printed beta-tricalcium phosphate (ß-TCP) scaffold tethered with growth factors and fibrin glue implanted autologous bone marrow-derived mesenchymal stem cells would provide a 3D platform for bone regeneration resulting in new bone formation with plasticity. Twenty 3D printed ß-TCP scaffolds, ten scaffolds engrained with osteogenic mesenchymal stem cells with fibrin glue (group A), and ten scaffolds used as a control group with ß-TCP scaffold and fibrin glue inoculation only (group B) were included in the study. Cell infiltration, migration, and proliferation of human osteogenic stem cells on the scaffolds were executed under both static and dynamic culture conditions. Each scaffold was examined post culture after repeated changes in the nutrient medium at 2, 4 or 8 weeks and assessed for opacity and formation of any bone-like tissues macroscopic, radiographic, and microscopic evaluation. Significant changes in all the prerequisite parameters compiled with an evaluated difference of significance showing maxillofacial skeletal repair via tissue engineering by ß-TCP scaffold and MSCs remains will be the most promising alternative to autologous bone grafts and numerous modalities involving a variety of stem cells, growth factors from platelet-rich fibrin.


Assuntos
Fosfatos de Cálcio/farmacologia , Adesivo Tecidual de Fibrina/farmacologia , Peptídeos e Proteínas de Sinalização Intercelular/farmacologia , Anormalidades Maxilofaciais/terapia , Transplante de Células-Tronco Mesenquimais , Células-Tronco Mesenquimais/citologia , Impressão Tridimensional , Engenharia Tecidual/métodos , Estudos de Casos e Controles , Sobrevivência Celular/efeitos dos fármacos , Humanos , Anormalidades Maxilofaciais/diagnóstico por imagem , Anormalidades Maxilofaciais/patologia , Células-Tronco Mesenquimais/efeitos dos fármacos , Minerais/análise , Tecidos Suporte/química , Resultado do Tratamento
14.
J Healthc Eng ; 2020: 8846920, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33029337

RESUMO

Electromyography (EMG) is the most objective and reliable method available for imaging muscle function and efficiency, which is done by identifying their electrical potentials. In global surface electromyography (sEMG), surface electrodes are located on the surface of the skin, and it detects superimposed motor unit action potentials from many muscle fibers. sEMG is widely used in orthodontics and maxillofacial orthopaedics to diagnose and treat temporomandibular disorders (TMD) in patients, assess stomatognathic system dysfunctions in patients with malocclusions, and monitor orthodontic therapies. Information regarding muscle sEMG activity in subjects with congenital maxillofacial abnormalities is limited. For this reason, the aim of this review is to discuss the usefulness of surface electromyography as a method for diagnosing muscle function in patients with congenital malformations of the maxillofacial region. Original papers on this subject, published in English between 1995 until 2020, are located in the MEDLINE/PubMed database.


Assuntos
Eletromiografia/métodos , Anormalidades Maxilofaciais/diagnóstico por imagem , Músculo Esquelético/fisiologia , Transtornos da Articulação Temporomandibular/diagnóstico por imagem , Fenda Labial/diagnóstico por imagem , Fissura Palatina/diagnóstico por imagem , Síndrome de Down/diagnóstico por imagem , Eletrodos , Humanos , Fenômenos Fisiológicos Musculoesqueléticos , Ortodontia , Processamento de Sinais Assistido por Computador
15.
Genet Test Mol Biomarkers ; 24(11): 723-731, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33121284

RESUMO

Objectives: Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial malformations observed across the globe. They are classified into three types: (a) cleft palate, (b) cleft lip, and (c) cleft lip and palate. To identify the potential candidate genes contributing to polygenic diseases such as NSOFC, linkage analyses, genome-wide association studies, and genomic rearrangements can be used. Genomic analyses, based on massively parallel next-generation sequencing technologies, play a vital role in deciphering the genetic bases of NSOFCs. Materials and Methods: In this study, whole exome sequencing was employed to detect genes that likely contributed to the NSOFC phenotype in a consanguineous Saudi family. Results: The exome analysis revealed NRP1 (rs35320960) as one potential candidate gene that is involved in bone differentiation. The RPL27A gene (rs199996172), which plays a crucial role in ribosome biogenesis, also passed all filters to serve as a candidate gene for NSOFC in this family. Rare variants are situated within the 5' UTR of these two genes. Conclusion: The study suggests that rare variants in NRP1 and RPL27A may be associated with NSOFC disease etiology.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Adulto , Pré-Escolar , Exoma/genética , Família , Feminino , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla , Genômica/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Lactente , Masculino , Anormalidades Maxilofaciais/genética , Pessoa de Meia-Idade , Neuropilina-1/genética , Neuropilina-1/metabolismo , Linhagem , Polimorfismo de Nucleotídeo Único/genética , Proteínas Ribossômicas/genética , Proteínas Ribossômicas/metabolismo , Arábia Saudita , Análise de Sequência de DNA/métodos , Sequenciamento Completo do Exoma/métodos
17.
J Craniofac Surg ; 31(6): e602-e603, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32649539

RESUMO

Dental transplantation is an alternative for rehabilitation with a high success rate. This article presents a clinical case of autogenous dental transplantation in a 17-year-old male patient undergoing treatment for Class III dento-facial deformity. After 32 months followup, low-cost rehabilitation was possible, and without prejudice to ortho-surgical treatment.


Assuntos
Transplante Ósseo , Anormalidades Maxilofaciais/cirurgia , Adolescente , Humanos , Masculino , Transplante Autólogo
18.
Surg Radiol Anat ; 42(9): 1057-1062, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32564109

RESUMO

PURPOSE: Incisive suture is a suture classically described on the oral face of the palate in fetuses and young children. The aim of our study was to describe the evolution of the incisive suture in human fetuses and to evaluate the incidence of this suture in a population of young children under 4 years, to determine if there is a possibility of improving the anterior growth of the maxilla, by stimulation of this suture. METHODS: One hundred and thirty CT scan images of patients aged from birth to 48 months have been studied and nine fetal palates aged from 18 to 26 weeks of development, have been scanned using high-resolution X-ray micro-computed tomography RESULTS: The CT scan images of patients showed that an incisive suture was present in 33/130 cases (25,4%). All the patients with a suture were under 2 years old. The fetal palate study showed that the suture was present in the inferior aspect of the palate (oral cavity) in all cases. The incisive suture increased from 18 to 24 weeks. At 26 weeks it stopped growing although the intercanine length increased. Considering the closure of the suture in a vertical plane, our study on fetuses has shown that the incisive suture is closing from its superior side (nasal side) to its inferior side. CONCLUSIONS: Considering all these results it appears to us that the incisive suture is partially ossified after birth, it cannot be stimulated by orthodontic appliances.


Assuntos
Suturas Cranianas/anormalidades , Desenvolvimento Fetal , Maxila/anormalidades , Anormalidades Maxilofaciais/epidemiologia , Palato Duro/anormalidades , Pré-Escolar , Suturas Cranianas/diagnóstico por imagem , Suturas Cranianas/crescimento & desenvolvimento , Feminino , Feto/diagnóstico por imagem , Idade Gestacional , Humanos , Incidência , Lactente , Masculino , Maxila/diagnóstico por imagem , Maxila/crescimento & desenvolvimento , Anormalidades Maxilofaciais/diagnóstico , Técnica de Expansão Palatina , Palato Duro/diagnóstico por imagem , Palato Duro/crescimento & desenvolvimento
19.
Stomatologiia (Mosk) ; 99(2): 85-90, 2020.
Artigo em Russo | MEDLINE | ID: mdl-32441081

RESUMO

The aim of the study was to summarize literature data on oral and maxillofacial manifestations of neurofibromatosis I (NFI) and to analyze clinical case in with dentist had the leading role in proper diagnosis of the disease. Literature review showed main oral alterations in NFI to be: neurofibroma formation seen in 8-14% of children and adolescents, dysplastic «orthodontic¼ phenotype with shortened mandible, maxilla and sphenoid bones; radiologic signs including alveolar nerve canal and mental foramen widening in almost one third of patients; lesions of cranial nerves (mainly trigeminal, facial and glossopharyngeal), with non-specific paralysis clinic. These symptoms, however, develop gradually throughout the life and may be evident only in late adolescents. The most pathagnomic sigh is café-au-lait spots as they present in 95% of children at birth. The described clinical case demonstrates the difficulties in diagnostic of NFI in children in the absence of mutilating plexiform neurofibromas. The disease provoked significant functional disorders in maxillofacial area which resulted not only in lower quality of life but also mimicked iatrogenic complications of routine dental treatment.


Assuntos
Anormalidades Maxilofaciais , Neurofibromatose 1 , Adolescente , Manchas Café com Leite , Criança , Humanos , Mandíbula , Doenças da Boca , Qualidade de Vida
20.
Surg Radiol Anat ; 42(9): 1073-1079, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32399625

RESUMO

PURPOSE: The bifid mandibular canal is an anatomical variation, which causes anesthetic failure and surgical accidents occasionally. The purpose of this study is to observe the prevalence and anatomical location of bifid mandibular canals, providing clinical value in reducing the occurrence of surgical accidents and postoperative complications. METHODS: A total of 321 outpatients were selected in this study. Their CBCT images were observed, and the prevalence of bifid mandibular canals as well as the composition ratios of each branch type was evaluated according to the classification of Naitoh. The bifid mandibular canals and their branches' diameter, length, horizontal distance to the buccal/lingual wall of the mandible, and vertical distance to the mandibular alveolar ridge were measured. Furthermore, 194 dry adult mandibles from the Department of Oral Anatomy and Physiology of Tianjin Medical University were observed to evaluate the prevalence and the average diameter of retromolar foramina. RESULTS: Of all the 321 patients, 84 (26.17%) cases of bifid mandibular canals and 105 (16.36%) sides of unilateral bifurcation were observed. Based on Naitoh's classification, the retromolar canals were the most common types (46.67%), followed by the forward canals (40.00%), the dental canals (10.48%) and the buccolingual canals (2.86%). In 194 dry adult mandibles, 23 cases (11.86%) and 29 sides (7.47%) of retromolar foramina were found and the average diameter of retromolar foramina was 0.94 ± 0.30 mm. CONCLUSION: More than a quarter of the population has the bifid mandibular canal, which is a potential factor of the onset of surgery accidents. CBCT is an effective method to identify the branches of mandibular canals. Preoperative CBCT examination can help reduce various postoperative complications.


Assuntos
Variação Anatômica , Tomografia Computadorizada de Feixe Cônico , Mandíbula/anormalidades , Anormalidades Maxilofaciais/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Cadáver , Criança , Estudos de Viabilidade , Feminino , Humanos , Masculino , Mandíbula/diagnóstico por imagem , Anormalidades Maxilofaciais/diagnóstico , Pessoa de Meia-Idade , Prevalência , Adulto Jovem
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