Application and development of orthognathic surgery in treatment of syndromic craniosynostosis / 中国修复重建外科杂志

OBJECTIVE@#To summarize the application and recent development of orthognathic surgery in treating syndromic craniosynostosis.@*METHODS@#The related literature at home and abroad in recent years was extensively reviewed, and the indications, routine procedures, and protocols of orthognathic surgery in the treatment of syndromic craniosynostosis were summarized and analyzed.@*RESULTS@#Craniosynostosis is a common congenital craniofacial malformation. Syndromic craniosynostosis usually involves premature fusion of multiple cranial sutures and is associated with other deformities. Orthognathic surgery is the necessary and effective means to improve the midfacial hypoplasia and malocclusion. Le Fort I osteotomy combined with sagittal split ramus osteotomy are the common surgical options. Orthognathic surgery should combine with craniofacial surgery and neurosurgery, and a comprehensive long-term evaluation should be conducted to determine the best treatment plan.@*CONCLUSION@#Orthognathic surgery plays an important role in the comprehensive diagnosis and treatment of syndromic craniosynostosis. The development of digital technology will further promote the application and development of orthognathic surgery in the treatment of syndromic craniosynostosis.

Análise do retorno venoso intra e extracraniano em pacientes com craniossinostoses complexas e sindrômicas / Analysis of intra and extracranial venous return in patients with complex and syndromic craniosynostosis

Introdução. Retorno venoso extracraniano anormal é um importante fator relacionado às craniossinostoses complexas, sendo responsável por alta morbimortalidade. Associa-se a essa circulação, a estenose ou atresia do forame jugular, existindo dúvida na literatura se a presença de circulação colateral venosa é causa da estenose de forame, gerando hipertensão venosa; se o desenvolvimento da circulação venosa acontece como consequência da hipertensão intracraniana ou se existem componentes intrínsecos levando à formação de veias anômalas. Objetivo. Analisar o retorno venoso completo (intra e extracraniano) pré-operatório de pacientes com craniossinostoses complexas e sindrômicas e avaliar a sua relação com a: morfologia da base do crânio, funcionalidade dos forames e seios durais, hipertensão intracraniana e diagnostico sindrômico e molecular. Método. Estudo Retrospectivo e prospectivo de pacientes com craniossinostose complexa ou sindrômica submetidos à angiotomografia com fase venosa no Instituto Fernandes Figueira a partir de 2014. Para avaliação da gravidade do retorno venoso extracraniano foi elaborada uma classificação vascular, categorizando os pacientes em leves, moderados e graves. Essa classificação consistiu em uma pontuação em cada região de circulação colateral estudada, variando de 0 a 3. Desta forma, sendo 9 regiões de interesse (frontais, parietais, mastoides, condilares esquerda e direita e circulação transoccipital), a classificação variou entre 0 quando ausência completa de circulação colateral até 27, considerado a possibilidade mais grave apresentada. De acordo com o Cluster Hierárquico, os pacientes foram classificados em 3 categorias de circulação venosa extracraniana: Leve ­ pontuação vascular entre 0 e 9; Moderada ­ pontuação vascular entre 10 e 18; Grave ­ pontuação vascular entre 19 e 27. Os 3 grupos Moderada ­ pontuação vascular entre 10 e 18; Grave ­ pontuação vascular entre 19 e 27. Os 3 grupos foram comparados quanto à morfologia da base do crânio (áreas, medidas anteroposteriores e volumes do forame jugular, forame magno e fossa posterior), quanto ao retorno venoso intracraniano (seios venosos durais, funcionalidade do forame jugular), quanto à hipertensão intracraniana (número de suturas acometidas, presença de malformação de Chiari I, hidrocefalia, ventriculomegalia) e quanto às síndromes apresentadas (manifestações fenotípicas e estudo molecular). Resultados. Dentre o total de 45 pacientes, 44,4% (n= 20) pertenciam ao grupo leve, 37,8% (n= 17) ao grupo moderado e 17,8% (n= 8) ao grupo grave. A circulação venosa extracraniana não se correlacionou com as medidas anteroposteriores, transversas, de área e de volume dos forames jugulares, forame magno ou da fossa posterior, com o número de suturas acometidas, com a classificação dos seios venosos intracranianos e da fossa posterior, com a hidrocefalia ou ventriculomegalia. A malformação de Chiari I é mais frequente em pacientes mais graves (p valor <0,001). As mutações identificadas se correlacionaram com a gravidade da circulação venosa extracraniana (pvalor <0,001). Conclusões. A estratificação de pacientes em uma classificação vascular permite a avaliação mais adequada dos fatores que historicamente são relacionados à circulação venosa colateral em Craniossinostoses complexas e sindrômicas. As alterações venosas extracranianas não se correlacionaram diretamente com as alterações morfológicas da base do crânio, com a funcionalidade dos seios durais ou com sinais de hipertensão intracraniana. Essas alterações parecem ser resultado de manifestações intrínsecas relacionadas ao genótipo, sendo as mutações no gene FGFR2 mais gravemente relacionadas à circulação venosa extracraniana. Pacientes com síndrome de Pfeiffer apresentaram a classificação venosa extracraniana mais grave, seguido pelas síndromes de Crouzon, Apert, Jackson-Weiss, Saerthre-Chotzen e craniossinostoses complexas negativas. As veias emissárias mais frequentemente encontradas foram as condilares e mastóides, seguidas da circulação transóssea occipital. Atresia funcional do forame jugular se correlaciona com a gravidade da circulação venosa extracraniana e pode ser consequência da atividade molecular intrínseca no endotélio durante a formação do sistema venoso.

Introduction. Abnormal extracranial venous outflow is an important factor related to complex craniosynostosis, that can lead to high morbidity and mortality. It has been associated with stenosis or atresia of the jugular foramen. In fact, there is doubt in the literature if the collateral venous circulation is caused by Jugular foramen stenosis, generating venous hypertension or if the development of the venous circulation happens as a consequence of intracranial hypertension or whether if there are intrinsic components leading to the formation of anomalous veins. Objective. To analyze the preoperative complete venous outflow (intra and extracranial) of patients with complex and syndromic craniosynostosis and to evaluate its relationship with: morphology of the skull base, functionality of the jugular foramina and dural sinuses, intracranial hypertension and syndromic and molecular diagnosis. Method. A retrospective and prospective study of patients with complex or syndromic craniosynostosis on CT angiography with venous phase at Instituto Fernandes Figueira from 2014 to 2022. To assess the severity of extracranial venous drainage, a vascular classification was developed, categorizing patients into mild, moderate and severe. The classification consisted of a score in each region of collateral circulation studied, ranging from 0 to 3. Thus, with 9 regions of interest (frontal, parietal, mastoid, left and right condylar and transoccipital circulation), the classification ranged from 0 when absence collateral circulation up to 27, considered the most serious possibility presented. According to the Hierarchical Cluster, patients were in 3 extracranial circulation categories: Mild ­ vascular assessment between 0 and 9; Moderate ­ vascular assessment between 10 and 18; Severe ­ vascular assessment between 19 and 27. The 3 groups were compared regarding skull base morphology (areas, measurements of jugular foramen and foramen magnum, and posterior fossa volumes), intracranial venous outflow (dural venous sinuses, jugular foramen functionality), and intracranial hypertension (number of affected sutures, presence of Chiari I malformation, hydrocephalus, ventriculomegaly) and the syndromes presented (phenotypic manifestations and molecular study). Results. Among the 45 patients, 44.4% (n=20) belonged to the mild group, 37.8% (n=17) to the moderate group and 17.8% (n=8) to the severe group. The extracranial venous circulation does not correlate with the anteroposterior, transverse, area and volume measurements of the jugular foramen, foramen magnum or posterior fossa, with the number of affected sutures, with the intracranial venous sinuses and the posterior fossa, with the hydrocephalus or ventriculomegaly. Chiari I malformation correlates with the most severe patients (p value <0.001). The mutations identified correlate with the severity of the extracranial venous circulation (p-value <0.001). Conclusions. The stratification of patients in a vascular classification allows a more adequate evaluation of the factors that are historically related to the collateral venous circulation in complex and syndromic craniosynostosis. Extracranial venous changes did not directly correlate with morphological changes in the skull base, functionality of the dural sinuses, or with signs of intracranial hypertension. These alterations seem to be the result of intrinsic manifestations related to the genotype, with mutations in the FGFR2 gene most severely related to extracranial venous circulation. Patients with Pfeiffer syndrome had the most severe extracranial venous classification, followed by Crouzon, Apert, Jackson-Weiss, Saerthre-Chotzen and complex negative craniosynostosis. The emissary veins most frequently found were the condylar and mastoid veins, followed by the occipital transosseous circulation. Functional atresia of the jugular foramen correlates with the severity of extracranial venous circulation and may be a consequence of intrinsic molecular activity in the endothelium during formation of the venous system.

Perioperative management and complication control of Le Fort Ⅲ osteotomy in children with syndromic craniosynostosis / 中华口腔医学杂志

Objective: To summarize the preliminary efficacy, perioperative management and complications of Le Fort Ⅲ osteotomy and midface distraction in patients with syndromic craniosynostosis by retrospective analysis, and to provide clinical experience for reference. Methods: From October 2017 to January 2020, 20 patients with syndromic craniosynostosis underwent Le Fort Ⅲ osteotomy and distraction in The Department of Oral and Maxillofacial Surgery of Peking University International Hospital, including 11 males and 9 females, were involved. The median age was 7 years (1.5 to 15 years). Preoperative risk prevention plan was put forward by multidisciplinary evaluation, and preoperative intervention was carried out. The diagnostic data of SNA, airway volume, polysomnography (PSG), ophthalmology and occlusal relationship were obtained through specialized examination, and osteotomy and distraction surgical plan was formulated through virtual surgical planning. CT was taken 1 week and 3, 6, 12 months after operation, PSG and eye protrudence examination were conducted to evaluate the therapeutic effect, syndrome type, multiple disciplinary treatment (MDT) intervention, occurrence and outcome of complications were summarized. Results: There were 15 cases of Crouzon syndrome and 5 cases of Pfeiffer syndrome. Sleep apnea was the first complaint in 18 cases and exophthalmia in 2 cases. Preoperative interventional therapy included 4 cases of adenoid surgery, 2 cases of continuous positive airway pressure and 2 cases of maxillary expansion. The most common surgical complications were accidental fracture (14/20 cases, 70%), cerebrospinal fluid fistula (2 cases), internal carotid cavernous sinus fistula (1 case), postoperative hyponatraemia (5 cases), crying syndrome (2 cases), wound infection (2 cases), trichiasis of lower eyelid (4 cases), and nasal malformation (1 case). Three cases underwent unplanned secondary surgery. SNA, airway volume and mean percutaneous arterial oxygen saturation (SpO2) six months after operation were significantly higher than those before operation (F=10.09, P=0.001; F=5.13, P<0.001; F=10.78, P=0.001), and the protrusion and apnea hypopnea index were significantly lower than those before surgery (F=6.73, P=0.010; F=18.47, P<0.001). There were no significant differences in SNA, airway volume, mean SpO2, ophthalmology between 6 months after surgery and 1 year after surgery (P>0.05). Conclusions: Perioperative safety assessment and early intervention of MDT is an effective diagnosis and treatment model of Le Fort Ⅲ osteotomy and distraction for syndromic craniosynosis. The operative complications are mainly local, and systemic complications are controllable.

Clinical and genetic analysis of two rare male patients with Rett syndrome / 中华医学遗传学杂志

OBJECTIVE@#To conduct clinical and genetic analysis of two male patients with atypical Rett syndrome.@*METHODS@#Collection of clinical data in the two patients and these parents; whole exome sequencing (WES) was used to detect the potential variants, which were verified by Sanger sequencing. X chromosome inactivation (XCI) detection is performed in the Patient 1's mother to detect the allelic expression difference of the MECP2 gene.@*RESULTS@#Patient 1, a 5-year and 10-month-old boy, had mental disorders and mild intellectual disability (ID) (IQ: 54), whose mother had ID. Patient 2 was a 9-month and 18-day-old male presented with recurrent infections, respiratory insufficiency, hypotonia and global developmental delay. WES indentified a hemizygous mutation, c.499C>T (p.R167W), in the MECP2 gene in patient 1, which was inherited from his mother. The inactivation of X chromosome is skewed, and the expression ratio of wild-type and mutant MECP2 is 100%:0. Patient 2 was found a de novo splicing mutation, c.62+2_62+3del in the MECP2 gene. They were both reported pathogenic variant related to Rett syndrome. c.499C>T (p.R167W) was defined as likely pathogenic (PS1+PM2+PP3) and c.62+2_62+3del was pathogenic (PVS1+PM2+PM6) based on American College of Medical Genetics and Genomics standards and guidelines.@*CONCLUSION@#Both the two patients were diagnosed with rare male Rett syndrome, which had atypical clinical manifestations and large difference. Above foundings have revealed novel phenotypes in Chinese male patients with Rett syndrome.

Sagitectomía Endoscópica: Planeamiento Quirúrgico con Modelos de Simulación de Bajo Costo / Endoscopic Sagitectomy: Surgical Planning with Low-Cost Simulation Models

Objetivos: El objetivo es presentar un caso de sagitectomía asistida por endoscopía y su planificación y entrenamiento prequirúrgico con modelos de simulación de bajo costo. Métodos: Se procesó una tomografía de un paciente con escafocefalia, a partir de la cual se realizó una impresión 3D de un cráneo sin huesos parietales. Se completó el modelo de simulación con materiales de bajo costo para simular los tejidos blandos y hueso. Se realizó el entrenamiento con un endoscopio de 30º. Luego del entrenamiento, se realizó una cirugía en un paciente de 2 meses de edad que presentaba una escafocefalia. Resultados: Se creó un modelo de simulación de bajo costo (aproximadamente 20 US$) para el entrenamiento de sagitectomía asistida por endoscopía. Se realizó la cirugía en un paciente, sin complicaciones quirúrgicas ni posoperatorias. Conclusión: El entrenamiento con simuladores de bajo costo permite planificar una sagitectomía asistida por endoscopía, disminuyendo los errores y los tiempos de la curva de aprendizaje.

Quirúrgico de plagiocefalia anterior: reporte de caso / Surgical management of anterior plagiocephaly: case report / Tratamento cirúrgico da plagiocefalia anterior: relato de caso

Craniosynostosis is the premature, abnormal, and non-physiological fusion of one or more cranial sutures. Its etiology can be multifactorial and genetic factors, bone abnormalities or environmental factors may be involved. Among the different types of craniosynostosis we can find anterior plagiocephaly, which generally corresponds to a non-syndromic craniosynostosis and which can affect the patient in a physiological and aesthetic way. Hemi-coronal sutures are affected in this condition. The treatment will depend on each case, although many times it is usually the surgical choice in order to prevent functional deterioration and improve the facial and cranial appearance... (AU)

La craneosinostosis es la fusión prematura, anormal y no fisiológica de una o más suturas craneales. Su etiología puede ser multifactorial y pueden estar involucrados factores genéticos, anormalidades propias del hueso o factores ambientales. Dentro de los diferentes tipos de craneosinostosis podemos encontrar a la plagiocefalia anterior, que corresponde generalmente a una craneosinostosis no sindrómica y que cual puede afectar de manera fisiológica y estética al paciente. Las suturas hemi-coronales se ven afectadas en dicha condición. El tratamiento dependerá de cada caso, aunque muchas de las veces suele ser de elección quirúrgica con el fin de prevenir el deterioro funcional y mejorar el aspecto facial y craneal... (AU)

Craniossinostose é a fusão prematura, anormal e não fisiológica de uma ou mais suturas cranianas. Sua etiologia pode ser multifatorial e fatores genéticos, anormalidades ósseas ou fatores ambientais podem estar envolvidos. Entre os diferentes tipos de craniossinostose podemos encontrar a plagiocefalia anterior, que geralmente corresponde a uma craniossinostose não sindrômica e que pode afetar o paciente de forma fisiológica e estética. Suturas hemicoronais são afetadas nessa condição. O tratamento dependerá de cada caso, embora muitas vezes seja a escolha cirúrgica para prevenir deterioração funcional e melhorar o aspecto facial e cranial... (AU)

Síndrome de Saethre-Chotzen: a propósito de un caso / Saethre-Chotzen syndrome: a case report

El síndrome de Saethre-Chotzen es un síndrome malformativo craneofacial caracterizado por una sinostosis de las suturas coronales y alteraciones de extremidades. Tiene una prevalencia de 1 de cada 25 000-50 000 recién nacidos vivos. Se presenta el caso de un neonato sin antecedentes de interés con alteraciones craneofaciales al nacer. Ante los rasgos fenotípicos del paciente, se realizó una tomografía axial computada craneal, que mostró la fusión parcial de la sutura coronal y evidenció la presencia de huesos wormianos en localización metópica y lambdoidea derecha. Con la sospecha clínica de síndrome malformativo craneofacial, se solicitó análisis del exoma dirigido, que confirmó que el paciente era portador heterocigoto de la variante patogénica c.415C>A, que inducía un cambio de prolina a treonina en la posición 139 del gen TWIST1, responsable del síndrome. La presencia de huesos wormianos, hallazgo no descrito hasta ahora en la literatura, amplía la variabilidad fenotípica conocida de este síndrome.

The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies. The estimated prevalence of this syndrome is 1 in 25 000-50 000 live births. We present a case report of a neonate, without relevant family history, who presented craniofacial alterations at birth. Given the phenotypic features, a cranial computed tomography scan was performed, showing partial fusion of the coronal suture, evidencing the presence of wormian bones in the metopic and right lambdoid location. With the clinical suspicion of craniofacial malformation syndrome, an analysis of the directed exome was requested confirming that the patient is a heterozygous carrier of the pathogenic variant c.415C>A, which induces a change of proline to threonine at position 139 of the TWIST1 gene, responsible for Saethre-Chotzen syndrome.The presence of wormian bones, a finding not described so far in the literature, extends the well-known phenotypic variability of this syndrome.

Gestational echobiometry in brachycephalic bitches using high-definition ultrasonography / Ecobiometria gestacional em cadelas braquicefálicas utilizando ultrassonografia de alta-definição

The objective of the present study was to obtain echobiometric values for the most important canine maternal-fetal tissues using high-definition ultrasonography (HDUS) trying to update the formulas for predicting gestational age. Twelve healthy bitches of brachycephalic breeds weighing 7-13kg and aged one to four years were included. The fetuses were analyzed every day using conventional and high-definition ultrasonography from the eighth day after artificial insemination until the day of delivery, using the ACUSON S2000/SIEMENS ultrasound equipment and specific software. Embryonic and fetal structures; diameter of the embryonic vesicle; length of the embryo; biparietal diameter, abdominal length and kidney height; length of the femur, humerus, scapula, radius, and tibia; thickening of the stomach wall; adrenal length; and cardiac size were measured. These variables were correlated with gestational and adjusted tested according to regression models. The results obtained (P<0.001) for: lateral diameter of the gestational sac (R2=81.8%); length of the embryo (R2=85.7%); biparietal (R2=99.1%) and abdominal diameter (R2=97.2%); thickness of the gastric wall (R2=86.9%); length of the femur (R2=96.6%), radius (R2=97.5%), humerus (R2=96.5%), scapula (R2=95.8%) and tibia (R2=97.3%); kidney length (R2=95.8%) and height (R2=96.0%); adrenal length (R2=89.6%); heart length (R2=93.0%) and height (R2=91.5%) of the canine fetuses showed significant correlation with gestational days. This allowed monitoring fetal growth and estimation of age with high accuracy in different gestational periods.(AU)

O objetivo do presente estudo foi obter valores ecobiométricos para os tecidos materno-fetais caninos, usando a ultrassonografia de alta definição (HDUS), desenvolvendo fórmulas para prever a idade gestacional das cadelas. Doze cadelas saudáveis de raças braquicefálicas pesando 7-13kg e com idades entre um e quatro anos foram incluídas. Os fetos foram analisados diariamente com ultrassonografia convencional e de alta definição, do oitavo dia após a inseminação artificial até o dia do parto, utilizando o equipamento de ultrassom ACUSON S2000/SIEMENS e software específico. Estruturas embrionárias e fetais; diâmetro da vesícula embrionária; comprimento do embrião; diâmetro biparietal, comprimento abdominal e altura renal; comprimento do fêmur, úmero, escápula, rádio e tíbia; espessamento da parede do estômago; comprimento adrenal; e tamanho cardíaco foram medidos. Essas variáveis foram correlacionadas com o teste gestacional e ajustado de acordo com os modelos de regressão. Os resultados obtidos (P<0,001) para: diâmetro lateral do saco gestacional (R2=81,8%); comprimento do embrião (R2=85,7%); diâmetro biparietal (R2=99,1%) e abdominal (R2=97,2%); espessura da parede gástrica (R2=86,9%); comprimento do fêmur (R2=96,6%), rádio (R2=97,5%), úmero (R2=96,5%), escápula (R2=95,8%) e tíbia (R2=97,3%); comprimento do rim (R2=95,8%) e altura (R2=96,0%); comprimento adrenal (R2=89,6%); o comprimento do coração (R2=93,0%) e a altura (R2=91,5%) dos fetos caninos apresentaram correlação significativa com os dias gestacionais. Isso permitiu monitorar o crescimento fetal e estimar a idade com alta precisão em diferentes períodos gestacionais.(AU)

De novo ALX4 variant detected in child with non-syndromic craniosynostosis

Current understanding of the genetic factors contributing to the etiology of non-syndromic craniosynostosis (NSC) remains scarce. The present work investigated the presence of variants in ALX4, EFNA4, and TWIST1 genes in children with NSC to verify if variants within these genes may contribute to the occurrence of these abnormal phenotypes. A total of 101 children (aged 45.07±40.94 months) with NSC participated in this cross-sectional study. Parents and siblings of the probands were invited to participate. Medical and family history of craniosynostosis were documented. Biological samples were collected to obtain genomic DNA. Coding exons of human TWIST1, ALX4, and EFNA4 genes were amplified by polymerase chain reaction and Sanger sequenced. Five missense variants were identified in ALX4 in children with bilateral coronal, sagittal, and metopic synostosis. A de novo ALX4 variant, c.799G>A: p.Ala267Thr, was identified in a proband with sagittal synostosis. Three missense variants were identified in the EFNA4 gene in children with metopic and sagittal synostosis. A TWIST1 variant occurred in a child with unilateral coronal synostosis. Variants were predicted to be among the 0.1% (TWIST1, c.380C>A: p. Ala127Glu) and 1% (ALX4, c.769C>T: p.Arg257Cys, c.799G>A: p.Ala267Thr, c.929G>A: p.Gly310Asp; EFNA4, c.178C>T: p.His60Tyr, C.283A>G: p.Lys95Glu, c.349C>A: Pro117Thr) most deleterious variants in the human genome. With the exception of ALX4, c.799G>A: p.Ala267Thr, all other variants were present in at least one non-affected family member, suggesting incomplete penetrance. Thus, these variants may contribute to the development of craniosynostosis, and should not be discarded as potential candidate genes in the diagnosis of this condition.

Manejo de secuelas de defectos del esmalte en paciente con Síndrome Muenke: Reporte de caso / Management of Sequelae of the enamel defects in patient with Muenke syndrome: Case report / Tratamento de sequelas de defeitos do esmalte em patiente com síndrome Muenke: Relato de caso

El síndrome Muenke se caracteriza por retraso del desarrollo y pérdida auditiva neurosensorial. Personas que presentan síndromes podrían presentar defectos del desarrollo del esmalte. Sin embargo, en personas con síndrome Muenke no existe evidencia sobre la presencia y el manejo de las secuelas de estos defectos. Objetivo: Describir el manejo de secuelas de los defectos del desarrollo del esmalte en dientes primarios con un procedimiento odontológico integral en sala de operaciones de paciente con síndrome Muenke. Caso Clínico: Paciente de 2 años de edad, sexo masculino, con diagnóstico sistémico de Síndrome Muenke y diagnóstico odontológico: fracturas post eruptivas del defecto del esmalte extensión I (< 1/3 del diente) y II (de 1/3 a 2/3 del diente) en los dientes anteroinferiores y fracturas post eruptivas del defecto del esmalte extensión III (> 2/3 del diente) de los dientes 62 y 52. El manejo clínico de estas secuelas, realizadas en sala de operaciones, consistió en: carillas de resina compuestas fotopolimerizable que permitieron restaurar las fracturas post eruptivas de los dientes antero inferiores; y los dientes 62 y 52 fueron rehabilitadas con coronas de resina compuesta fotopolimerizable a mano alzada. Conclusión: El manejo de las secuelas de los defectos de desarrollo del esmalte, en paciente con Síndrome Muenke, se consideró clínicamente positivo; pues después de 6 meses los dientes tratados no presentaron dolor espontáneo, ni se observó fistulas o absceso, ni movilidad dentaria.

O síndrome Muenke é caracterizado por atraso no desenvolvimento e perda auditiva neurossensorial. Pessoas com síndrome podem ter defeitos de desenvolvimento do esmalte. No entanto, em pessoas com síndrome Muenke não há evidências sobre o manejo das sequelas desses defeitos. Objetivo: Descrever o manejo das sequelas de defeitos de desenvolvimento do esmalte em dentes decíduos com um procedimento odontológico abrangente na sala de cirurgia de um paciente com síndrome Muenke. Caso Clínico: Paciente masculino de 2 anos com diagnóstico sistêmico de Síndrome Muenke e diagnóstico dentário: Fraturas pós-eruptivas da extensão do defeito de esmalte I (< 1/3 do dente) e II (1 / 3 - 2/3 do dente) nos dentes anteriores inferiores. e fraturas pós-eruptivas da extensão do defeito de esmalte III (> 2/3 do dente) dos dentes 62 e 52. Os tratamentos realizados foram com resina compostas fotopolimerizáveis que permitiu restaurar as fraturas pós-eruptivas da extensão I e II do defeito do esmalte dos dentes anteriores inferiores. Nos dentes 62 e 52 com fraturas pós-eruptivas do defeito de esmalte de extensão III. foram restauradas com coroas de resina compostas fotopolimerizáveis à mão libre. Conclusão: Os tratamentos foi considerado clinicamente positivo em paciente com Síndrome de Muenke; porque após 6 meses os dentes tratados não apresentavam dor espontânea, nem fístulas ou abscessos, nem mobilidade dentária

Muenke syndrome is characterized by developmental delay and sensorineural hearing loss. People with a syndrome may have enamel development defects. However, in people with Muenke syndrome, there is no evidence on the management of the sequelae of these defects. Objective: To describe the management of sequelae of enamel development defects in the operating room with a comprehensive dental procedure in primary teeth in a single sesión. Clinical case: 2 -year -old, male patient with medical diagnosis: Muenke Syndrome and dental diagnosis: Post eruptive fractures of the enamel defect extensión I (< 1/3 of the tooth) and II (at least 1/3 but less than 2/3 of the affected tooth) in teeth 63, 73, 72,71, 81, 82, 83 and post- eruptive of the extensión III (more than 2/3 of the tooth is affected) enamel defect of teeth 62 and 52, treatment consisted in: veneers that allowed to restore the post eruptive fractures of lower anterior teeth and composite

Simulation method of skull remodellingsurgeryfor infant with craniosynostosis / 生物医学工程学杂志

Craniofacial malformation caused by premature fusion of cranial suture of infants has a serious impact on their growth. The purpose of skull remodeling surgery for infants with craniosynostosis is to expand the skull and allow the brain to grow properly. There are no standardized treatments for skull remodeling surgery at the present, and the postoperative effect can be hardly assessed reasonably. Children with sagittal craniosynostosis were selected as the research objects. By analyzing the morphological characteristics of the patients, the point cloud registration of the skull distortion region with the ideal skull model was performed, and a plan of skull cutting and remodeling surgery was generated. A finite element model of the infant skull was used to predict the growth trend after remodeling surgery. Finally, an experimental study of surgery simulation was carried out with a child with a typical sagittal craniosynostosis. The evaluation results showed that the repositioning and stitching of bone plates effectively improved the morphology of the abnormal parts of the skull and had a normal growth trend. The child's preoperative cephalic index was 65.31%, and became 71.50% after 9 months' growth simulation. The simulation of the skull remodeling provides a reference for surgical plan design. The skull remodeling approach significantly improves postoperative effect, and it could be extended to the generation of cutting and remodeling plans and postoperative evaluations for treatment on other types of craniosynostosis.

Craneosinostosis, una perspectiva pediátrica / Craniosynostosis, a pediatric perspective

La craneosinostosis se define como el cierre prematuro de una o más suturas del cráneo, que se manifiesta por una forma anormal de la cabeza. Es una condición infrecuente, pero requiere ser reconocida y derivada oportunamente a Neurocirugía para prevenir complicaciones. El objetivo de esta revisión es describir las características clínicas y genéticas más frecuentes de esta patología, su clasificación de acuerdo a la forma del cráneo y los signos más característicos para lograr reconocerla oportunamente. Se realizó una búsqueda de artículos científicos en bases de datos Pubmed, Scielo y EMBASE con las palabras craneosinostosis, plagio, escafo y braquicefalia. Se seleccionaron artículos en español e inglés que describieran las características de la patología y su manejo, optando por revisiones sistemáticas o recomendaciones de sociedades científicas cuando estuvieran disponibles. La craneosinostosis puede presentarse en forma aislada o asociada a otras deformidades. Su clasifi cación depende de la(s) sutura(s) afectada(s), lo que lleva a la forma característica del cráneo y de la presencia de otras malformaciones. Suele diagnosticarse y derivarse de forma tardía, lo que se asocia a complicaciones como hipertensión endocraneana y alteración del desarrollo encefálico. La cirugía precoz tiene menor comorbilidad y mejores resultados estético. En conclusión, la forma anormal del cráneo debe hacer sospechar la presencia de craneosinostosis, aunque se presente en forma aislada. El manejo quirúrgico antes del año de vida se asocia a mejor pronóstico.

Craniosynostosis is defined as the premature fusion of one or more skull sutures, characterized by an abnormal shape of the head. It is a rare condition but should be recognized and timely referred to Neurosurgery in order to prevent complications. The objective of this review is to describe the most frequent clinical and genetic characteristics of this pathology, its classification according to the shape of the skull, and the most characteristic signs to achieve timely recognition. A search for scientific articles in Pubmed, Scielo, and EMBASE databases was performed using the terms craniosynostosis, plagiocephaly, scaphocephaly, and brachycephaly. We selected articles in Spanish and English that described the characteristics of the pathology and about its management, choosing systematic reviews or recommendations from scientific societies when available. Craniosynostosis may occur in isola tion or associated with other deformities. Its classification depends on the affected suture(s), leading to the characteristic shape of the skull and the presence of other malformations. This condition is usually diagnosed and referred late, which is associated with complications such as intracranial hy pertension and impaired brain development. Early surgery has less comorbidity and better esthetic results. In conclusion, the abnormal shape of the skull must raise the suspicion of craniosynostosis, even if it occurs in isolation. Surgical management before one year of life is associated with a better prognosis.

Variaciones anatómicas de los senos frontales en radiografías de cráneo de pacientes con cráneos braquicéfalos / Anatomical variations of frontal sinuses in skull radiographs of patients with brachycephalic skulls

Introducción: La anatomía ósea de las cavidades paranasales presenta múltiples variantes, que pueden ser causa o factor predisponente de enfermedad rinosinusal, entre las que se encuentran las asimetrías y las agenesias. Éstas pueden ser reparos de gran importancia en la cirugía endoscópica nasal y demandan atención médica con frecuencia. Objetivo: Determinar las variaciones anatómicas de los senos frontales en los pacientes con cráneos braquicéfalos y que no presentaron diagnóstico de enfermedad rinosinusal. Métodos: Se realizó un estudio observacional, descriptivo y transversal, donde fueron estudiados los diámetros transversales y longitudinales de los senos frontales a través de radiografías de cráneo AP en 28 pacientes con cráneos braquicéfalos, en el servicio de imagenología del Hospital Juan Bruno Zayas Alfonso en los meses de enero y febrero de 2019. Resultado: Se identificaron las principales variaciones de los senos frontales a través de radiografías de cráneo y su comportamiento según variables epidemiológicas. Conclusiones: Predominó los enfermos (9) en el rango etáreo de 19-29 años, lo que representa un 32,1 por ciento, hubo un ligero predominio de los hombres con respecto a las mujeres, 10 (35,7 por ciento) pacientes presentaron agenesia bilateral y 3 (10,7 por ciento) agenesia unilateral izquierda. Las magnitudes de las cavidades derechas fueron mayores que las izquierdas y los senos frontales estudiados son asimétricos por su tamaño y posición(AU)

Introduction: The bone anatomy of paranasal cavities presents a large number of variants which may be the cause of or predisposing factor for rhinosinus disease, among which are asymmetry and agenesis. These may be very important hurdles in nasal endoscopic surgery and often require medical care. Objective: Determine the anatomical variations in the frontal sinuses of patients with brachycephalic skulls not diagnosed with rhinosinus disease. Methods: A cross-sectional observational descriptive study was conducted of frontal sinus longitudinal and transverse diameters of frontal sinuses based on AP skull radiographs of 28 patients with brachycephalic skulls attending the imaging service of Juan Bruno Zayas Alfonso Hospital from January to February 2019. Result: Identification was made of the main frontal sinus variations in skull radiographs and their behavior according to epidemiological variables. Conclusions: The 19-29 years age group prevailed, with 9 patients (32.1 percent). There was a slight predominance of men versus women. Ten (35.7 percent) patients had bilateral agenesis and 3 (10.7 percent) had unilateral left agenesis. The magnitudes for right cavities were greater than those for left cavities. The frontal sinuses studied were asymmetrical in terms of size and position(AU)

Síndrome de Apert. Reporte de caso / Apert syndrome. Case report

Introducción: El síndrome de Apert, o acrocefalosindactilia tipo I, es un síndrome caracte­rizado por craneosinostosis, acompañada de sindactilia simétrica en las cuatro extremidades, alteraciones maxilofaciales, cutáneas y retardo mental variable. Este síndrome se debe a una mutación en el gen del receptor 2 del factor del crecimiento fibroblástico (FGFR2), el cual se expresa de manera autosómica dominante (AD) Caso clínico: Se presenta caso de adolescente masculino de 24 años de edad, con las características fenotípicas clásicas de este síndrome como la acrocefalia y la sindactilia en manos y pies. Discusión: El síndrome de Apert hace parte de lo que hoy se denomina un espectro de enfermedades causadas por la mutación en el gen FGFR2 que se caracterizan por anorma­lidades en el cráneo y las extremidades. Este gen es necesario para la osificación normal y también está implicado en la diferenciación neural. Sus mutaciones producen un receptor anormal que funciona aun sin la unión de su ligando "ganancia de función", lo que se traduce en una osificación temprana de los huesos, en grados variables, dependiendo del sitio exacto de la mutación.

Introduction: Apert's syndrome or acrocefalosindactyly tipe I, is a syndrome character­ized by craniosynostosis, symmetric syndactylia in hands and feet's, maxillofacial and cutaneous disorders, and variable mental retardation. This syndrome is due to a mutation in the gene that encode the fibroblast growth factor Receptor 2 (FGFR2), which has an autosomal dominant inheritance (AD). Case report: We report a male24 yearsoldteen, with the classical phenotypic characteristics of this syndrome, as acrocefalia and syndactyly of hands and feet. Discussion: Apert's syndrome is part of what today is called a spectrum of disease caused by a mutation in the FGFR2 gene, which is characterized by abnormalities in the skull and extremities. This gene is required for normal ossification and is also involved in neural differentiation. Mutations cause an abnormal receptor that functions even without the binding of its ligand "gain of function", which translates into an early ossification of the bones, in varying degrees, depending on the exact site of the mutation.

Fibrous Band between Extraocular Muscles in Unilateral Coronal Synostosis

No abstract available.

Síndrome de Apert. Reporte de caso / Apert syndrome. Case report

RESUMEN Fundamento: El síndrome de Apert consiste en una enfermedad genética con anomalía craneofacial denominada acrocefalosindactilia; produce malformaciones en el cráneo como craneosinostosis, además de alteraciones en cara, manos y pies, puede ser hereditaria, secundaria a mutaciones esporádicas del gen FGFR2 y otros genes. Debido a los programas de pesquisaje genético el diagnóstico prenatal de este síndrome posibilita el asesoramiento genético y la asistencia médica multidisciplinaria. Objetivo: Ilustrar la importancia del diagnóstico prenatal del síndrome de Apert como elemento esencial para la atención multidisciplinaria posnatal del futuro niño. Reporte de caso: Se presenta un neonato de sexo masculino, nacido a las 39 semanas de gestación por parto eutócico, con signos de craneosinostosis y sindactilia en las manos y los pies por lo que se le realizó el diagnóstico posnatal de síndrome de Apert. Conclusiones: Los pacientes con el síndrome de Apert deben ser diagnosticados oportunamente durante la pesquisa prenatal, considerando el conjunto de sus signos y alteraciones y no como anomalías aisladas, como puede ocurrir de realizarse el diagnóstico en el período posnatal. De efectuarse el diagnóstico prenatal se lograría el tratamiento de forma multidisciplinaria y se podría garantizar al paciente una calidad de vida superior.

ABSTRACT Background: Apert syndrome consists of a genetic disease with craniofacial anomaly called acrocephalosyndactyly; it produces malformations in the skull such as craniosynostoses, in addition to alterations in the face, hands and feet, it can be inherited, secondary to sporadic mutations of the FGFR2 gene and some other genes. Due to genetic screening programs, the prenatal diagnosis of this syndrome enables genetic counseling and multidisciplinary medical assistance. Objective: To illustrate the importance of prenatal diagnosis of Apert syndrome as an essential element for the postnatal multidisciplinary care of the future child. Case report: A male neonate, born at 39 weeks of gestation by eutocic delivery, with signs of craniosynostoses and syndactyly on the hands and feet, so he was made the postnatal diagnosis of Apert syndrome. Conclusions: Patients with Apert syndrome should be diagnosed appropriately in time during prenatal screening, considering all their signs and alterations and not as isolated abnormalities, as may occur if the diagnosis is made in the postnatal period. If the prenatal diagnosis was made, the treatment would be achieved in a multidisciplinary way and a better quality of life could be guaranteed to the patient.

Prenatal ultrasonography of craniofacial abnormalities

Craniofacial abnormalities are common. It is important to examine the fetal face and skull Epub ahead of print during prenatal ultrasound examinations because abnormalities of these structures may indicate the presence of other, more subtle anomalies, syndromes, chromosomal abnormalities, or even rarer conditions, such as infections or metabolic disorders. The prenatal diagnosis of craniofacial abnormalities remains difficult, especially in the first trimester. A systematic approach to the fetal skull and face can increase the detection rate. When an abnormality is found, it is important to perform a detailed scan to determine its severity and search for additional abnormalities. The use of 3-/4-dimensional ultrasound may be useful in the assessment of cleft palate and craniosynostosis. Fetal magnetic resonance imaging can facilitate the evaluation of the palate, micrognathia, cranial sutures, brain, and other fetal structures. Invasive prenatal diagnostic techniques are indicated to exclude chromosomal abnormalities. Molecular analysis for some syndromes is feasible if the family history is suggestive.

From Resection to Disconnection for Seizure Control in Pediatric Epilepsy Children

Epilepsy surgery revealed dramatically improved seizure outcomes over medical therapy in drug-resistant epilepsy patients. Children with epilepsy, however, have multiple epileptic focuses which require multilobar resection for better seizure outcome. Multilobar resection has not only the several severe surgical complications, such as hydrocephalus and shunt-related craniosynostosis, due to intracranial volume reduction. Isolation method (disconnection surgery) was progressively studied over epileptic focus removal (resective surgery) for seizure control. This concept was first introduced for functional hemispherotomy, and its primary principle is to preserve the vital vascularized brain that is functionally disconnected from the contralateral healthy brain. Currently in most epilepsy centers, the predominant disconnection surgical methods, including functional hemispherotomy, are continually being refined and are showing excellent results. They allow the functional isolation of the hemisphere or multi-lobe, affected by severe epilepsy. This review describes recent findings concerning the indication, surgical technique, seizure outcome and complications in several disconnection surgeries including the functional hemispherotomy for refractory pediatric epilepsy.