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Background: 20q11.2 microdeletion syndrome [ORPHA: 444051] is a rare disease, since 16 patients have been reported in literature worldwide. Prevalence ratio is < 1:1,000,000 individuals. Haploinsufficiency on GDF5, SAMHD1 and EPB41L1 genes is important due to phenotypic manifestations in patients. Clinical features can be grouped into craniofacial abnormalities, limb abnormalities, neurological and perinatal disorders. The aim of this report is to present a clinical case of 20q11.21-q11.23 microdeletion, to describe clinical manifestations found, to compare them with features reported in literature, and to contribute to the phenotypic spectrum expansion. Clinical case: 5-year-old female patient who presented hypotonia, psychomotor retardation, microcephaly, facial dysmorphia, pectus excavatum, thoracolumbar scoliosis, right hip subluxation, camptodactyly and clinodactyly. Karyotype test was normal and SNP microarray test reported deletion of chromosomal region 20q11.21-q11.23. Conclusions: It was presented a 20q11.2 microdeletion syndrome confirmed case that shares the features reported in literature, in addition to previously unreported features, such as blepharoptosis, pectus excavatum, scoliosis and hip dysplasia. Interdisciplinary management is important to improve the patient's condition (in her 3 spheres), in order to achieve her best possible health status.

Introducción: el síndrome de microdeleción 20q11.2 [ORPHA: 444051] es una enfermedad rara, pues se han reportado 16 casos a nivel mundial. Su prevalencia se estima en < 1:1,000,000 de nacidos vivos. Induce haploinsuficiencia en los genes GDF5, SAMHD1 y EPB41L1, los cuales son de importancia clínica por las manifestaciones fenotípicas. Se caracteriza por anomalías craneofaciales, anomalías de extremidades, alteraciones neurológicas y perinatales. El objetivo de este reporte es presentar un caso de microdeleción 20q11.21-q11.23, describir las manifestaciones clínicas encontradas, compararlo con lo reportado en la literatura y colaborar en la ampliación del espectro fenotípico. Caso clínico: paciente del sexo femenino de 5 años que presentó hipotonía, retraso psicomotor, microcefalia, dismorfias faciales, pectus excavatum, escoliosis toracolumbar, subluxación de cadera derecha, camptodactilia y clinodactilia. La prueba de cariotipo se reportó sin alteraciones y el ensayo de microarreglo de polimorfismos de un nucleótido (SNP) reportó deleción de la región cromosómica 20q11.21-q11.23. Conclusiones: se presentó un caso confirmado de síndrome de microdeleción 20q11.2 que comparte las características reportadas en la literatura, además de características no reportadas previamente, como ptosis palpebral, pectus excavatum, escoliosis y displasia del desarrollo de cadera. Es importante el manejo interdisciplinario para buscar mejoría en la condición de la paciente (en sus 3 esferas), a fin de alcanzar el mejor estado de salud posible.

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Introdução: A fissura labiopalatina é a malformação congênita craniofacial mais comum. Dificuldades na alimentação, fala e audição são comuns nestes pacientes, necessitando de tratamento multidisciplinar, o que dificulta a criação e manutenção de serviços especializados. A diversidade de classificações e o grande número de técnicas cirúrgicas utilizadas nas cirurgias primárias (queiloplastia e palatoplastia) dificultam a comparação de dados epidemiológicos e de complicações entre os serviços, existindo carência de estudos avaliando centros especializados em fissuras labiopalatinas recém-criados. Método: Foi realizado estudo do tipo coorte prospectiva com pacientes com diagnóstico de fissura labiopalatina submetidos a procedimentos cirúrgicos primários, no Hospital de Clínicas da Universidade Federal de Uberlândia, entre julho de 2017 e fevereiro de 2023. Foram incluídos pacientes menores de 18 anos com acompanhamento pós-operatório de pelo menos 3 meses. Resultados: Participaram do estudo 79 pacientes, que foram submetidos a 115 cirurgias primárias (54 queiloplastias e 61 palatoplastias). Foram relatadas 11 complicações neste período: 2 deiscências em queiloplastia (3,70%), 1 cicatriz hipertrófica em queiloplastia (1,85%), 6 fístulas em palatoplastia (9,83%) e 2 deiscências em palatoplastia (3,28%). A incidência de complicações foi de 9,56% quando analisado o total de cirurgias, sendo 5,55% nos pacientes submetidos a queiloplastia e 13,11% nos pacientes submetidos a palatoplastia. Conclusão: A incidência de complicações durante os anos iniciais de estruturação do serviço foi semelhante a outros estudos da literatura.

Introduction: Cleft lip and palate is the most common congenital craniofacial malformation. Difficulties in eating, speaking, and hearing are common in these patients, requiring multidisciplinary treatment, which makes it difficult to create and maintain specialized services. The diversity of classifications and the large number of surgical techniques used in primary surgeries (cheiloplasty and palatoplasty) make it difficult to compare epidemiological data and complications between services, and there is a lack of studies evaluating newly created specialized centers for cleft lip and palate. Method: A prospective cohort study was carried out with patients diagnosed with cleft lip and palate who underwent primary surgical procedures at the Hospital de Clínicas of the Universidade Federal de Uberlândia, between July 2017 and February 2023. Patients under 18 years of age with follow-up were included. post-operative period of at least 3 months. Results: 79 patients participated in the study, who underwent 115 primary surgeries (54 cheiloplasties and 61 palatoplasties). 11 complications were reported in this period: 2 dehiscences in cheiloplasty (3.70%), 1 hypertrophic scar in cheiloplasty (1.85%), 6 fistulas in palatoplasty (9.83%) and 2 dehiscences in palatoplasty (3.28%). The incidence of complications was 9.56% when analyzing the total number of surgeries, being 5.55% in patients undergoing cheiloplasty and 13.11% in patients undergoing palatoplasty. Conclusion: The incidence of complications during the initial years of structuring the service was similar to other studies in the literature.

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OBJECTIVE: To assess the association between self-reported symptoms of pediatric OSA and clinical signs in MB children. METHODS: Seventy-three MB children aged 7-14 years answered an interview questionnaire on OSA symptoms in childhood, focusing on chewing, nasal, and sleep disturbances. MB children were checked for changes on the craniofacial, occlusion, TMJ, upper airway, and body posture by a multi-disciplinary team, consisting of medical residents, dental, and psychology postgraduate students. Multiple logistic regression analysis verified the association between clinical signs and self-reported symptoms. RESULTS: Reported symptoms of chewing disturbance as TMD noise, muscle pain, and morning headache were significantly associated with the presence of lip incompetence and Class II malocclusion. Sleep disturbances as snoring, waking up at night, daytime sleepiness, and sleeping with the mouth open were significantly associated with the presence of hypertrophic tonsils and obstructive Mallampati score. CONCLUSION: Symptoms of pediatric OSA were found in mouth-breathing children, which should be carefully investigated in order to prevent OSA in the future.

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Introduction Lateral pharyngoplasty (LP) has shown promising results. Craniofacial deformity reduces the pharyngeal space, contributing to the etiopathogenesis. The analysis of craniofacial features can be performed using cephalometry. Objective To verify if craniofacial deformity is associated with worse polysomnographic data in patients with obstructive sleep apnea (OSA), and to verify if the preoperative cephalometric parameters can interfere with the surgical success of the LP. Methods The study included 21 patients with OSA aged between 18 and 65 years who underwent LP in a university hospital from 2015 to 2019. Polysomnography was performed postoperatively, after a minimum period of 6 months from the surgical procedure. In addition, a cephalometric evaluation was performed to assess craniofacial deformity, and to correlate it with the polysomnographic results. Results The mean and median of all polysomnographic respiratory parameters improved postoperatively, especially the apnea-hypopnea index (AHI), which went from 40.15 to 16.60 events per hour ( p = 0.001). Of the 21 patients, 15 showed improvements in the AHI postoperatively. As for the cephalometric evaluations, we found that the longer the distance between the hyoid bone and the mandibular plane, the greater the patient's preoperative AHI ( p = 0.011). When assessing whether cephalometric changes related to craniofacial deformities influence the surgical outcome of LP, no correlation was found for any cephalometric measurement. Conclusion The longer the distance between the hyoid bone and the mandibular plane, the greater the preoperative AHI, and LP was an effective OSA treatment. Cephalometric variables are not able to modify or determine the success of LP in apneic patients in the population assessed.

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PURPOSE: To evaluate the role of anatomic alterations of the upper airway and facial skeleton in the evolution of obstructive sleep apnea (OSA) in a prospective population-based study with an 8-year follow-up. METHODS: This was a population-based, longitudinal, prospective study, which took place from 2007 to 2015 at the Instituto do Sono, Sao Paulo, Brazil. In 2007, type I polysomnography (PSG), otorhinolaryngological examination, and collection of anthropometric measurements of all volunteers were performed. Volunteers were classified according to their anatomical features of the upper airway and facial skeleton. After 8 years, volunteers were invited for reevaluation. The relationship between anatomical characteristics and polysomnographic evolution was evaluated. RESULTS: The study included 554 patients. After 8 years of follow-up, there was an increase in neck circumference and body mass index of the participants. There was a worsening in all polysomnographic parameters analyzed, with an increase in the apnea-hypopnea index, a decrease in minimum saturation values, and an increase in the percentage of sleep time with peripheral oxyhemoglobin saturation <90%. There was no statistical relationship between the anatomical findings considered unfavorable and the worsening of polysomnographic parameters. CONCLUSIONS: In a sample of the general population, after 8 years, we did not find any relationship between upper airway and facial skeleton characteristics and the progression of OSA.

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Abstract Introduction Lateral pharyngoplasty (LP) has shown promising results. Craniofacial deformity reduces the pharyngeal space, contributing to the etiopathogenesis. The analysis of craniofacial features can be performed using cephalometry. Objective To verify if craniofacial deformity is associated with worse polysomnographic data in patients with obstructive sleep apnea (OSA), and to verify if the preoperative cephalometric parameters can interfere with the surgical success of the LP. Methods The study included 21 patients with OSA aged between 18 and 65 years who underwent LP in a university hospital from 2015 to 2019. Polysomnography was performed postoperatively, after a minimum period of 6 months from the surgical procedure. In addition, a cephalometric evaluation was performed to assess craniofacial deformity, and to correlate it with the polysomnographic results. Results The mean and median of all polysomnographic respiratory parameters improved postoperatively, especially the apnea-hypopnea index (AHI), which went from 40.15 to 16.60 events per hour (p = 0.001). Of the 21 patients, 15 showed improvements in the AHI postoperatively. As for the cephalometric evaluations, we found that the longer the distance between the hyoid bone and the mandibular plane, the greater the patient's preoperative AHI (p = 0.011). When assessing whether cephalometric changes related to craniofacial deformities influence the surgical outcome of LP, no correlation was found for any cephalometric measurement. Conclusion The longer the distance between the hyoid bone and the mandibular plane, the greater the preoperative AHI, and LP was an effective OSA treatment. Cephalometric variables are not able to modify or determine the success of LP in apneic patients in the population assessed.

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Introdução: A cirurgia ortognática envolve manipulação da arquitetura óssea facial, através de osteotomias, para restaurar a forma e a função, corrigindo a má oclusão, as desproporções maxilomandibulares e assimetrias faciais. O planejamento virtual em cirurgia ortognática é realizado com ajuda de softwares que utilizam as medidas reais do esqueleto craniofacial e registros da oclusão do paciente, através de uma análise 3D. Método: Foram avaliados 18 pacientes com deformidades dentofaciais, de acordo com a classificação de Angle submetidos a cirurgia ortognática com o uso do planejamento virtual, entre 2018 e 2019. Os critérios de inclusão foram pacientes entre 16 e 60 anos com desproporções maxilo-mandibulares nas quais o tratamento ortodôntico isolado não era suficiente. Os critérios de exclusão foram a presença de lesões císticas ou tumorais nos maxilares e comorbidades clínicas que contraindicavam a cirurgia. O planejamento virtual foi realizado em todos os pacientes, utilizando o software Dolphin® Imaging 11 e os guias cirúrgicos confeccionados em impressora 3D. Resultados: O guia cirúrgico intermediário apresentou adaptação perfeita nas faces oclusais promovendo grande estabilidade para o reposicionamento e fixação da maxila na oclusão intermediária. Os 18 pacientes operados responderam como "totalmente satisfeitos" em relação ao resultado estético-funcional nessa série estudada. Foi encontrada uma semelhança muito grande da posição do esqueleto maxilofacial no planejamento virtual préoperatório e o obtido no pós-operatório, através da avaliação das telerradiografias. Conclusão: O planejamento virtual em cirurgia craniomaxilofacial possui inúmeras vantagens, como diminuição do tempo laboratorial pré-operatório, maior precisão na confecção dos guias cirúrgicos e melhor reprodutibilidade dos resultados simulados.

Introduction: Orthognathic surgery involves the manipulation of facial bone architecture through osteotomies to restore form and function, correcting malocclusion, maxillomandibular disproportions, and facial asymmetries. Virtual planning in orthognathic surgery is carried out with the help of software that uses real measurements of the craniofacial skeleton and records of the patient's occlusion through 3D analysis. Method: 18 patients with dentofacial deformities were evaluated, according to Angle's classification, who underwent orthognathic surgery using virtual planning between 2018 and 2019. The inclusion criteria were patients between 16 and 60 years old with maxylo-mandibular disproportions in which orthodontic treatment alone was not sufficient. Exclusion criteria were the presence of cystic or tumoral lesions in the jaw and clinical comorbidities that contraindicated surgery. Virtual planning was carried out on all patients, using Dolphin® Imaging 11 software and surgical guides made with a 3D printer. Results: The intermediate surgical guide presented perfect adaptation on the occlusal surfaces, promoting great stability for the repositioning and fixation of the maxilla in intermediate occlusion. The 18 operated patients responded as "completely satisfied" in relation to the aesthetic-functional result in this series studied. A very great similarity was found between the position of the maxillofacial skeleton in the preoperative virtual planning and that obtained post-operatively through the evaluation of teleradiography. Conclusion: Virtual planning in craniomaxillofacial surgery has numerous advantages, such as reduced pre-operative laboratory time, greater precision in the creation of surgical guides, and better reproducibility of simulated results.

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Introduction: The pure interstitial trisomy 11q11q23.2 is an uncommon genomic disorder associated with nonrecurrent intrachromosomal duplications. The phenotype is characterized by intellectual disability and craniofacial abnormalities. Given their uncommonness, a comprehensive genotype-phenotype correlation has not fully been defined. Case Presentation: We report the clinical and cytogenomic characterization of a 5-year-old boy with intellectual disability, psychomotor retardation, craniofacial dysmorphism, genital anomalies, and pure interstitial trisomy 11q arising from a nonrecurrent 11q13.1q22.3 intrachromosomal duplication in a high-mosaic state (>80%). The duplicated chromosome was characterized by cytogenetics, multicolor banding FISH, and SNP array. We demonstrated the wide mosaic distribution of the 11q duplication by interphase FISH in tissues from different embryonic germ layers. The duplication involves a copy number gain of 45.3 Mb containing 22 dosage-sensitive genes. We confirmed the overexpression of dosage-sensitive genes along the duplicated region using RT-qPCR. Discussion: Only 8 patients have been described. Our patient shares clinical features with previous reports but differs from them by the presence of genital anomalies. We provide a detailed clinical review and an accurate genotype-phenotype correlation and propose PC, NDUFV1, FGF3, FGF4, and DHCR7 as dosage-sensitive genes with a possible role in the clinical spectrum of our patient; however, expression changes of FGF3/4 were not detected since they must be regulated in a spatiotemporal way. This patient contributes to the accurate description of the pure interstitial trisomy 11q. Future reports could continue to delineate the description, considering the relationship between the chromosome segment and the genes involved.

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Fundamento la craneosinostosis es una de las patologías neuroquirúrgicas más frecuentes en la edad pediátrica. Los conocimientos sobre su manejo son de vital importancia para intervenir con el tratamiento de manera oportuna. Objetivo caracterizar los pacientes operados de craneosinostosis no sindrómica. Métodos se realizó un estudio descriptivo y de corte transversal, en el período enero/2018- diciembre/2022, con la totalidad de pacientes intervenidos de craneosinostosis en el Hospital Pediátrico José Luis Miranda, de Villa Clara (N=28). Las variables analizadas fueron: sexo, color de la piel, clasificación de la malformación según sutura afectada, síntomas y signos asociados a la malformación, edad al realizar la intervención quirúrgica, técnica quirúrgica y complicaciones. Resultados se observó predominio del sexo masculino y de pacientes con color blanco de la piel. La forma de presentación más frecuente fue la escafocefalia, y se asoció a síntomas como el retardo en el desarrollo psicomotor y estrabismo. Las técnicas quirúrgicas realizadas fueron de remodelado total de la bóveda craneal, que en la mayoría de los niños se realizó antes de los 23 meses. La complicación más frecuente fue la infección de la herida quirúrgica. Conclusiones la craneosinostosis es una patología neuroquirúrgica frecuente en el sexo masculino. La forma de presentación más frecuente es la escafocefalia y se puede asociar a síntomas y signos neurológicos. Las técnicas quirúrgicas realizadas para remodelado de la bóveda craneal se deben realizar antes del primer año de vida, con vistas a disminuir el índice de complicaciones.

Background craniosynostosis is one of the most frequent neurosurgical pathologies in the pediatric age. Knowledge about its management is of vital importance to intervene with treatment in a timely manner. Objective to characterize the patients operated on for non-syndromic craniosynostosis. Methods a descriptive and cross-sectional study was carried out, from January/2018 to December/2022, with all the patients operated on for craniosynostosis at the José Luis Miranda Pediatric Hospital, in Villa Clara (N=28). The analyzed variables were: sex, skin color, classification of the malformation according to the affected suture, symptoms and signs associated with the malformation, age at surgery, surgical technique, and complications. Results a predominance of the male sex and patients with white skin color was observed. The most frequent form of presentation was scaphocephaly, and it was associated with symptoms such as delayed psychomotor development and strabismus. The surgical techniques performed were total remodeling of the cranial vault, which in most children was performed before 23 months old. The most frequent complication was infection of the surgical wound. Conclusions craniosynostosis is a frequent neurosurgical pathology in the male sex. The most frequent form of presentation is scaphocephaly and it can be associated with neurological symptoms and signs. Surgical techniques performed for remodeling of the cranial vault must be performed before the first year of life, in order to reduce the complications rate.

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INTRODUCTION: The dentist participates in the treatment protocol for craniofacial anomalies in individuals from the first months of life. OBJECTIVE: to compare in a retrospective cohort study the morphometry of the edentulous palate of children microcephaly associated with congenital Zika syndrome (CZS), unilateral complete cleft lip and alveolus (UCL), and without craniofacial anomalies. METHODS: Forty-five digitized dental molds composed the sample divided into three groups: CZS; UCL; and without craniofacial anomalies (control group). The following measurements were evaluated: intercanine and intertuberosity distances; dental arch length, area, volume, and mismatch superimposition. Parametric and non-parametric tests were applied (α = 5%). RESULTS: CZS group showed the smallest means of intercanine distance and area than those of the other groups (p = .001 and p = .010, respectively). The dental arch length was greater in the CZS group than in the control group (p = .020). The evaluation of the mismatch superimposition showed that the CZS group had the lowest means of maximum distance and root mean square than that of the UCL group (p = .025 and p = .005, respectively). CONCLUSION: CZS participants tended to palatal narrowing, while UCL individuals had parameters similar to those of the control group, despite the alveolus defect.