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In Finland the frequency of isolated cleft palate (CP) is higher than that of isolated cleft lip with or without cleft palate (CL/P). This trend contrasts to that in other European countries but its genetic underpinnings are unknown. We performed a genome-wide association study for orofacial clefts, which include CL/P and CP, in the Finnish population. We identified rs570516915, a single nucleotide polymorphism that is highly enriched in Finns and Estonians, as being strongly associated with CP ( P = 5.25 × 10 -34 , OR = 8.65, 95% CI 6.11-12.25), but not with CL/P ( P = 7.2 × 10 -5 ), with genome-wide significance. The risk allele frequency of rs570516915 parallels the regional variation of CP prevalence in Finland, and the association was replicated in independent cohorts of CP cases from Finland ( P = 8.82 × 10 -28 ) and Estonia ( P = 1.25 × 10 -5 ). The risk allele of rs570516915 disrupts a conserved binding site for the transcription factor IRF6 within a previously characterized enhancer upstream of the IRF6 gene. Through reporter assay experiments we found that the risk allele of rs570516915 diminishes the enhancer activity. Oral epithelial cells derived from CRISPR-Cas9 edited induced pluripotent stem cells demonstrate that the CP-associated allele of rs570516915 concomitantly decreases the binding of IRF6 and the expression level of IRF6 , suggesting impaired IRF6 autoregulation as a molecular mechanism underlying the risk for CP.
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Changes in gene regulatory elements play critical roles in human phenotypic divergence. However, identifying the base-pair changes responsible for the distinctive morphology of Homo sapiens remains challenging. Here, we report a noncoding single-nucleotide polymorphism (SNP), rs41298798, as a potential causal variant contributing to the morphology of the skull base and vertebral structures found in Homo sapiens. Screening for differentially regulated genes between Homo sapiens and extinct relatives revealed 13 candidate genes associated with basicranial development, with TBX1, implicated in DiGeorge syndrome, playing a pivotal role. Epigenetic markers and in silico analyses prioritized rs41298798 within a TBX1 intron for functional validation. CRISPR editing revealed that the 41-base-pair region surrounding rs41298798 modulates gene expression at 22q11.21. The derived allele of rs41298798 acts as an allele-specific enhancer mediated by E2F1, resulting in increased TBX1 expression levels compared to the ancestral allele. Tbx1-knockout mice exhibited skull base and vertebral abnormalities similar to those seen in DiGeorge syndrome. Phenotypic differences associated with TBX1 deficiency are observed between Homo sapiens and Neanderthals (Homo neanderthalensis). In conclusion, the regulatory divergence of TBX1 contributes to the formation of skull base and vertebral structures found in Homo sapiens.
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Polimorfismo de Nucleotídeo Único , Proteínas com Domínio T , Proteínas com Domínio T/genética , Proteínas com Domínio T/metabolismo , Humanos , Animais , Camundongos , Síndrome de DiGeorge/genética , Homem de Neandertal/genética , Camundongos Knockout , Crânio/anatomia & histologia , Alelos , Coluna Vertebral/anatomia & histologia , Coluna Vertebral/anormalidades , Cromossomos Humanos Par 22/genética , FenótipoRESUMO
BACKGROUND: Craniosynostosis is a prevalent craniofacial malformation in Finland; however, comprehensive population-based epidemiological data are limited. This study aimed to estimate the total and birth prevalence of craniosynostosis in Finland from 1987 to 2010 and examine temporal trends. METHODS: We collected the data from nationwide registers maintained by the Finnish Institute for Health and Welfare and Statistics Finland, as well as treating hospitals, encompassing live births, stillbirths, terminations for fetal anomalies, and infant deaths with suspected or diagnosed craniosynostosis or skull deformation. A craniofacial surgeon and a clinical geneticist reviewed 1878 medical records for diagnostic confirmation. RESULTS: Out of 877 craniosynostosis cases, 83% were single-suture synostoses (all live births), 10% craniosynostosis syndromes, and 7% multisutural non-syndromic synostoses. Live birth prevalence from 1987 to 2010 was 6.0/10,000 live births, ranging from 5.0/10,000 in 1987 to 7.5/10,000 in 2010. Total prevalence, including live births, stillbirths, and terminations, varied from 5.0/10,000 in 1987 to 8.0/10,000 in 2010. Sagittal synostosis was the most common synostosis, with a prevalence of 3.9/10,000 live births, followed by metopic (0.6/10,000), unicoronal (0.4/10,000), and unilambdoid (0.1/10,000) synostoses. CONCLUSIONS: The total combined prevalence of all craniosynostosis types significantly increased driven by a nonsignificant rise across all subgroups and a significant increase in the syndrome group. In live births increase was significant only within the syndrome subgroup, primarily due to an increase in Muenke syndrome patients. The rising prevalence of syndromes necessitates further investigation. Contrasting with trends in Europe, Australia, and the USA, Finland showed no significant increase in metopic craniosynostosis.
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Craniossinostoses , Natimorto , Gravidez , Feminino , Humanos , Finlândia/epidemiologia , Prevalência , Craniossinostoses/epidemiologia , Europa (Continente) , SíndromeRESUMO
INTRODUCTION: Cleft patients often need orthognathic surgery to correct maxillary hypoplasia and rhinoplasty to correct nasal deformity. Rhinoplasty can be performed as a staged procedure after orthognathic surgery or simultaneously with maxillary osteotomy. AIM: The authors evaluated need for and complications of staged and simultaneous rhinoplasties in patients with different cleft types undergoing maxillary osteotomy. PATIENTS AND METHODS: This retrospective study examined 99 (54 females) consecutive nonsyndromic patients with cleft lip/palate [23 bilateral cleft lip and palate (BCLP), 51 unilateral cleft lip and palate (UCLP), and 25 cleft palate (CP)] with a mean age of 17.8 (range: 11.5-45.3) years who had undergone Le Fort I maxillary advancement or bimaxillary osteotomy at the Cleft Palate and Craniofacial Center, Helsinki University Hospital, Finland, between 2002 and 2016. Medical charts were accessed through the hospital's archives and database. RESULTS: Of patients who underwent maxillary osteotomy, 45% (45/99) needed rhinoplasty (14 BCLP, 27 UCLP, and 4 CP). A significant difference (P<0.01) existed in the need for rhinoplasty between different cleft types, those with BCLP and UCLP needing the most operations (60% and 53%). In 20 patients (20%), rhinoplasty was performed simultaneously with maxillary osteotomy, and in 25 patients (25%) in a second operation after osteotomy. The overall complication rate was 14%. No difference existed in complication rate in patients with or without simultaneous rhinoplasty. CONCLUSIONS: Of cleft patients who underwent maxillary osteotomy, 45% needed rhinoplasty. Patients with BCLP and UCLP needed rhinoplasty most often. Staged and simultaneous procedures were almost equally common with similar complication rates.
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Facial asymmetry is common in unilateral clefts. Since virtual surgical planning (VSP) is becoming more common and automated segmentation is utilized more often, the position and asymmetry of the orbits can affect the design outcome. The aim of this study is to evaluate whether non-syndromic unilateral cleft lip and palate (UCLP) patients requiring orthognathic surgery have asymmetry of the bony orbits. Retrospectively, we analyzed the preoperative cone-beam computed tomography (CBCT) or computed tomography (CT) data of UCLP (n = 15) patients scheduled for a Le Fort 1 (n = 10) or bimaxillary osteotomy (n = 5) with VSP at the Cleft Palate and Craniofacial Center, Helsinki University Hospital. The width, height, and depth of the bony orbit and the distance between the sella turcica and infraorbital canal were measured. A volumetric analysis of the orbits was also performed. The measurements were tested for distribution, and the cleft side and the contralateral side were compared statistically with a two-sided paired t-test. To assess asymmetry in the non-cleft population, we performed the same measurements of skeletal class III patients undergoing orthognathic surgery at Päijät-Häme Central Hospital (n = 16). The volume of bony orbit was statistically significantly smaller (p = 0.014), the distance from the infraorbital canal to sella turcica was shorter (p = 0.019), and the anatomical location of the orbit was more medio-posterior on the cleft side than on the contralateral side. The non-cleft group showed no statistically significant asymmetry in any measurements. According to these preliminary results, UCLP patients undergoing orthognathic surgery show asymmetry of the bony orbit not seen in skeletal class III patients without a cleft. This should be considered in VSP for the correction of maxillary hypoplasia and facial asymmetry in patients with UCLP.
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OBJECTIVE: Cleft lip and/or palate (CL/P) can have long-lasting effects on the appearance, function, and psychosocial wellbeing of patients. The CLEFT-Q questionnaire is a patient-reported outcomes instrument specifically designed to assess the health-related quality of life of patients with CL/P. The aim of this study was to produce and linguistically validate a Finnish version of the CLEFT-Q questionnaire. DESIGN: The CLEFT-Q questionnaire was translated into Finnish following guidelines of the International Society for Pharmacoeconomics and Outcomes Research. Pilot testing with cognitive debriefing interviews was conducted on patients of the target age range of the questionnaire, 8-29, and with various cleft types. RESULTS: The CLEFT-Q questionnaire translated readily into Finnish. A review of the backward translation led to two words being changed. Thirteen patients - ten females and three males - with a median age of 14 years, participated in the cognitive debriefing interviews. The interviews led to further nine word changes. The pilot study data suggested that the performance of the Finnish version of the instrument is in line with the original CLEFT-Q questionnaire. CONCLUSIONS: The Finnish version of CLEFT-Q produced here is linguistically valid and ready for use in the evaluation of the health-related quality of life of patients with CL/P. However, future work is needed to further assess the validity and the reliability of the CLEFT-Q in the Finnish patient population.
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BACKGROUND: When postoperative multi-slice computed tomography (MSCT) imaging of patients with craniosynostosis is used, it is usually performed a few days after surgery in a radiology department. This requires additional anesthesia for the patient. Recently, intraoperative mobile cone-beam CT (CBCT) devices have gained popularity for orthopedic and neurosurgical procedures, which allows postoperative CT imaging in the operating room. OBJECTIVE: This single-center retrospective study compared radiation dose and image quality of postoperative imaging performed using conventional MSCT scanners and O-arm CBCT. MATERIALS AND METHODS: A total of 104 pediatric syndromic and non-syndromic patients who were operated on because of single- or multiple-suture craniosynostosis were included in this study. The mean volumetric CT dose index (CTDIvol) and dose-length product (DLP) values of optimized craniosynostosis CT examinations (58 MSCT and 46 CBCT) were compared. Two surgeons evaluated the subjective image quality. RESULTS: CBCT resulted in significantly lower CTDIvol (up to 14%) and DLP (up to 33%) compared to MSCT. Multi-slice CT image quality was considered superior to CBCT scans. However, all scans were considered to be of sufficient quality for diagnosis. CONCLUSION: The O-arm device allowed for an immediate postoperative CBCT examination in the operating theater using the same anesthesia induction. Radiation exposure was lower in CBCT compared to MSCT scans, thus further encouraging the use of O-arms. Cone-beam CT imaging with an O-arm is a feasible method for postoperative craniosynostosis imaging, yielding less anesthesia to patients, lower health costs and the possibility to immediately evaluate results of the surgical operation.
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Craniossinostoses , Cirurgia Assistida por Computador , Humanos , Criança , Tomografia Computadorizada por Raios X/métodos , Imageamento Tridimensional/métodos , Estudos Retrospectivos , Doses de Radiação , Imagens de Fantasmas , Tomografia Computadorizada de Feixe Cônico/métodos , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/cirurgia , Tomografia Computadorizada Multidetectores/métodosRESUMO
PURPOSE: The use of virtual surgical planning and patient-specific saw and drill guides combined with customized osteosynthesis is becoming a gold standard in orthognathic surgery. The aim of this study is to report preliminary results of the use of virtual surgical planning and the wafer-free PSI technique in cleft patients. MATERIALS AND METHODS: Patient-specific saw and drill guides combined with milled patient-specific 3D titanium alloy implants were used in reposition and fixation in Le Fort I osteotomy of 12 cleft patients. Surgical information was retrieved from hospital records. Pre- and post-operative lateral cephalograms were analyzed. RESULTS: In 10 of 12 cases, the implants fitted as planned to predesigned drill holes and bone contours with high precision. In one patient, the mobilization of the maxilla was too demanding for virtually planned advancement, and the implants could not be used. In another patient, PSI fitting was impaired due to an insufficient mobilization of maxilla and tension on PSI fixation with screws. After the surgery, the mean advancement of the anterior maxilla (point A) of all patients was 5.8 mm horizontally (range 2.7-10.1) and -3.1 mm vertically (range -9.2 to 3.4). Skeletal relationships of the maxilla and mandible could be corrected successfully in all patients except for the one whose PSI could not be used. CONCLUSIONS: Virtual surgical planning combined with PSI is a possible useful clinical adjunct for the correction of maxillary hypoplasia in cleft patients. Large maxillary advancements and scarring may be cause problems for desired advancement and for the use of implants.
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Fenda Labial , Fissura Palatina , Humanos , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Osteotomia de Le Fort/métodos , Maxila/diagnóstico por imagem , Maxila/cirurgia , Maxila/anormalidades , CefalometriaRESUMO
While bilateral cleft lip and palate (BCLP) constitutes a clinical challenge for the whole cleft team, the ideal surgical protocol remains obscure. This study presents the long-term burden of care in terms of secondary surgeries, defined as fistula repair and speech-correcting surgeries (SCS), in a single center. Outcomes of two surgical protocols utilized over the years were also compared.A retrospective single-center analysis of 81 non-syndromic children with complete BCLP born between 1990 and 2010. Two surgical protocols comprising single-stage and two-stage (delayed hard palate closure) procedures were compared. Outcome was analyzed at the time of alveolar bone grafting (ABG) and post-ABG.Altogether 54 children (66.7%) had underwent secondary surgery by the time of bilateral ABG. At this point, 38.3% (n = 31) of patients had received SCS and 49.4% (n = 40) had undergone fistula repair. The corresponding incidences at the end of follow-up were 46.9% (n = 38) and 53.1% (n = 43). No significant difference emerged in SCS incidence between the 2 protocols; however, prior to ABG the single-stage protocol had a significantly lower need for fistula repair. Regarding the location of fistulas, some differences were observed, with the single-stage procedure more associated with anterior fistulas.BCLP has a high surgical burden of care in terms of secondary surgeries, defined as SCS and fistula repair. In our experience, the single-stage protocol, particularly the two-flap technique, offers better results in the management of BCLP than the two-stage approach with a short delay in hard palate closure.
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Fenda Labial , Fissura Palatina , Fístula , Criança , Humanos , Fenda Labial/cirurgia , Fenda Labial/complicações , Fissura Palatina/cirurgia , Fissura Palatina/complicações , Seguimentos , Incidência , Fala , Estudos Retrospectivos , Resultado do Tratamento , Palato Duro/cirurgiaRESUMO
OBJECTIVE: To compare speech symptoms of velopharyngeal insufficiency (VPI) and incidence of secondary speech surgery in 10-year-old Finnish children with unilateral cleft lip and palate (UCLP) following primary palatal surgery using 2 surgical methods. DESIGN: Single center analysis within the Scandcleft multicenter randomized controlled trial of primary surgery for UCLP. MATERIALS AND METHODS: Patients comprised 79 nonsyndromic 10-year-old children with UCLP. Two randomized surgical methods were used in the primary palatal surgery: soft palate closure at 4 months and hard palate closure at 12 months (Arm A) and closure of both the soft and hard palate at 12 months (Arm C). Speech symptoms of VPI were analyzed from standardized video recordings by 2 experienced speech pathologists. The incidences of surgery for correcting VPI, fistula closure, and speech therapy were evaluated retrospectively from patient records. RESULTS: No differences in speech symptoms of VPI, need for VPI surgery or speech therapy were found between the surgical methods. Of all 79 children, 33% had had VPI surgery and 61% had speech therapy. The number of fistulas was significantly higher in Arm A (25%) than in Arm C (2%). Moderate to severe speech symptoms of VPI (hypernasality, continuous nasal air leakage, weak pressure consonants, and/or compensatory articulation) were found in 11% of the children. CONCLUSION: No differences were present between groups in speech symptoms of VPI or need for VPI surgery or speech therapy between the 2 surgical methods. One third of the children had undergone VPI surgery. Most of the children (89%) had good or relatively good speech.
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Fenda Labial , Fissura Palatina , Insuficiência Velofaríngea , Humanos , Criança , Fenda Labial/cirurgia , Insuficiência Velofaríngea/cirurgia , Fissura Palatina/cirurgia , Fala , Incidência , Estudos Retrospectivos , Resultado do Tratamento , Palato DuroRESUMO
BACKGROUND: The aim of this study was to describe the 3D planning process used in our two composite face transplantations and to analyze the accuracy of a virtual transplantation in predicting the end-result of face transplantation. METHODS: The study material consists of two bimaxillary composite face transplantations performed in the Helsinki University Hospital in 2016 and 2018. Computed tomography (CT) scans of the recipient and donor were used to define the osteotomy lines and perform the virtual face transplantation and to 3D print customized osteotomy guides for recipient and donor. Differences between cephalometric linear and angular measurements of the virtually simulated and the actual postoperative face transplantation were calculated. RESULTS: No changes to the planned osteotomy lines were needed during surgery. The differences in skeletal linear and angular measurements of the virtually simulated predictions and the actual postoperative face transplantations of the two patients varied between 0.1-5.6 mm and 0.7°-4°. The postoperative skeletal relationship between maxilla and mandible in both patients were almost identical in comparison to the predictions. CONCLUSIONS: 3D planning is feasible and provides close to accurate bone reconstruction in face transplantation. Preoperative virtual transplantation assists planning and improves the outcome in bimaxillary face transplantation.
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Transplante de Face , Procedimentos Cirúrgicos Ortognáticos , Cirurgia Assistida por Computador , Cefalometria/métodos , Transplante de Face/métodos , Humanos , Imageamento Tridimensional/métodos , Mandíbula , Maxila/diagnóstico por imagem , Maxila/cirurgia , Procedimentos Cirúrgicos Ortognáticos/métodos , Cirurgia Assistida por Computador/métodosRESUMO
OBJECTIVE: The ideal surgical protocol and technique for primary closure of unilateral cleft lip and palate (UCLP) are unclear, and the development of velopharyngeal insufficiency and fistulae following primary repair is common. This study aimed to determine the long-term surgical burden of care in terms of secondary surgeries, defined as speech-correcting surgeries (SCSs) and fistula repair, in a UCLP population, and to compare outcomes of various surgical protocols. DESIGN: Retrospective, single-center review. PARTICIPANTS: The study comprised 290 nonsyndromic children with complete UCLP. Different surgical protocols entailing both single-stage and 2-stage approaches were compared, and the surgical outcome was analyzed at the time of alveolar bone grafting (ABG) and post ABG. RESULTS: Altogether 110 children (37.9%) underwent secondary surgery by the time of ABG. Of the total population 25.9% (n = 75) had undergone SCS and 17.2% (n = 50) had undergone fistula repair. The respective incidences at follow-up (post ABG) were 30.3% (n = 88) and 18.9% (n = 55). Median age at ABG was 9.8 years and at follow-up was 16.3 years. No significant difference emerged in terms of secondary surgeries between the techniques and protocols applied at primary repair. However, some differences occurred regarding the location of fistulae; the single-stage procedure had more anterior fistula repairs, particularly connected to a perialveolar fistula. CONCLUSIONS: Although the outcome differences between the surgical protocols were small, indicating that none of the treatment protocols was clearly superior to another, attention was drawn to the favorable outcomes of the single-stage protocol.
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Fenda Labial , Fissura Palatina , Fístula , Insuficiência Velofaríngea , Criança , Humanos , Fenda Labial/cirurgia , Fenda Labial/complicações , Fissura Palatina/cirurgia , Fissura Palatina/complicações , Seguimentos , Fala , Estudos Retrospectivos , Incidência , Resultado do Tratamento , Insuficiência Velofaríngea/etiologia , Insuficiência Velofaríngea/cirurgia , Fístula/epidemiologiaRESUMO
BACKGROUND: Maxillary advancement may affect speech in cleft patients. AIMS: To examine whether the amount of maxillary advancement and preoperativecephalometric skeletal and dentoalveolar relationships are associated with articulation errors of the Finnish alveolar consonants /s/, /l/, and /r/ in cleft patients. MATERIALS AND METHODS: Fifty-seven nonsyndromic cleft patients who underwent Le Fort I or bimaxillary osteotomies were evaluated retrospectively. Pre- and post-operative lateral cephalometric radiographs and standardized speech video recordings were analyzed. The Aspin-Welch unequal variance t test, Student t test sign test, intraclass correlation and Kappa statistics were used in the statistical analyses. RESULTS: The mean advancement of the maxilla (point A) was 4.65âmm horizontally (range -2.80 to 11.30) and -3.82âmm vertically (range -14.20 to 3.90). The overall articulation (especially the sounds /s/ and /l/) improved significantly postoperatively, but the amount of maxillary advancement did not affect the articulation. The preoperative mean percentages of /s/, /l/, and /r/ errors were 32%, 33%, 46% and the postoperative percentages 23%, 19%, 40%, respectively. Preoperative articulation errors of /s/ were related to palatal inclination of the upper incisors. CONCLUSIONS: Orthognathic surgery may improve articulation errors. The amount of maxillary advancement is not related to the improvement.
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Fenda Labial , Fissura Palatina , Cefalometria , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Humanos , Maxila/diagnóstico por imagem , Maxila/cirurgia , Osteotomia de Le Fort , Estudos RetrospectivosRESUMO
BACKGROUND AND TRIAL DESIGN: The Scandcleft intercentre study evaluates the outcomes of four surgical protocols (common method Arm A, and methods B, C, and D) for treatment of children with unilateral cleft lip and palate (UCLP) in a set of three randomized trials of primary surgery (Trials 1, 2, and 3). OBJECTIVES: To evaluate and compare dental arch relationships of 5-, 8-, and 10-year-old children with UCLP after four different protocols of primary surgery and to compare three dental indices. The results are secondary outcomes of the overall trial. METHODS: Study models taken at the ages of 5 (n = 418), 8 (n = 411), and 10 years (n = 410) were analysed by a blinded panel of orthodontists using the Eurocran index, the 5-year-olds' (5YO) index, and the GOSLON Yardstick. Student's t-test, Pearson's correlation, chi-square test, and kappa statistics were used in statistical analyses. RESULTS: The reliability of the dental indices varied between moderate and very good, and those of the Eurocran palatal index varied between fair and very good. Significant correlations existed between the dental indices at all ages. No differences were found in the mean 5-, 8-, and 10-year index scores or their distributions within surgical trials. Comparisons between trials detected significantly better mean index scores in Trial 2 Arm C (at all ages) and in Trial 1 Arm B (at 5 and 10 years of age) than in Trial 3 Arm D. The mean Eurocran dental index scores of the total material at 5, 8, and 10 years of age were 2.50, 2.60, and 2.26, and those of the 5YO index and GOSLON Yardstick were 2.77, 2.90, and 2.54, respectively. At age 10 years, 75.8% of the patients had had orthodontic treatment. CONCLUSIONS: The results of these three trials do not provide evidence that one surgical method is superior to the others. The reliabilities of the dental indices were acceptable, and significant correlations existed between the indices at all ages. The reliability of the Eurocran palatal index was questionable. TRIAL REGISTRATION: ISRCTN29932826.
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Fenda Labial , Fissura Palatina , Criança , Pré-Escolar , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Arco Dental/cirurgia , Humanos , Ensaios Clínicos Controlados Aleatórios como Assunto , Reprodutibilidade dos Testes , Resultado do TratamentoRESUMO
BACKGROUND: Various surgical methods are used for early treatment of nonsyndromic sagittal craniosynostosis. The craniofacial centers in Uppsala and Helsinki fundamentally both use the H-Craniectomy: Renier's technique. However, the Helsinki group systematically adds coronal suturectomies to prevent secondary coronal synostosis and posterior barrel staves to address posterior bulleting. The effects of these additions in early treatment of sagittal craniosynostosis are currently unknown. METHODS: Thirty-six patients from Uppsala and 27 patients from Helsinki were included in the study. Clinical data and computed tomography scans were retrieved for all patients. RESULTS: The Helsinki patients had a smaller preoperative Cranial index (CI) (65 vs 72) and a smaller preoperative width (10.1 vs 11.2). There was no difference in postoperative CI, corresponding to a difference in change in CI. Regression analysis indicated that the larger change in CI in the Helsinki group was mainly due to a lower preoperative CI allowing for a larger normalization. The Helsinki patients had less growth in length (1.5 vs 2.1âcm) and more growth in width (2.3 vs 1.9âcm). There were no differences in head circumference or surgical complications. Secondary coronal synostosis was present in 43% of the Uppsala group at 3 years of age, while calvarial defects located at sites of previous coronal suturectomies and posterior barrel staving were seen in the Helsinki group 1 year postoperatively. CONCLUSIONS: Lower preoperative CI appears to be the main factor in determining the amount of normalization in CI. Prophylactic coronal suturectomies do not seem to benefit preservation of coronal growth function since the modification correlates to less sagittal growth and more growth in width.
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Craniossinostoses , Cefalometria , Suturas Cranianas/diagnóstico por imagem , Suturas Cranianas/cirurgia , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/cirurgia , Craniotomia , Humanos , Lactente , Período Pós-Operatório , Estudos Retrospectivos , Resultado do TratamentoRESUMO
ABSTRACT: Temporomandibular joint (TMJ) reconstruction with alloplastic prosthesis is a commonly performed procedure, which can be used as a treatment for improving pathologic conditions affecting the TMJ. Depending of the severity of the condition, the patient's ability to eat can be impaired, which in turn can affect their quality of life. Several syndromes can affect the patient's facial features, and some of those also affect TMJ's. Use of alloplastic prosthesis in TMJ's affecting syndromes, by means of correcting TMJ conditions and mandibular deformities, is still rather uncommon. Purpose of our study is to review the use TMJ total prosthesis as a treatment modality for correcting TMJ conditions and the reconstruction of mandibular deformities in congenital syndromes affecting the facial features. This study consists of a retrospective cohort of patients treated with TMJ reconstruction with alloplastic prosthesis at the Helsinki University Hospital during the past decade. All subjects with congenital syndrome who underwent TMJ reconstruction were included the study. The cohort consisted of seven patients and ten joints treated. Temporomandibular joints affecting syndromes were Goldenhar syndrome, hemifacial macrosomia, Nager syndrome, and Treacher-Collins syndrome. The majority of the patients have had several previous operative treatments on the facial skeleton during their childhood, which in turn probably affected and compromised the TMJ surgery outcome. Mouth opening was sufficiently achieved as average maximal opening was 34âmm (range 24-42âmm) postoperatively. Temporomandibular joint reconstruction with alloplastic prosthesis can offer new tools and approaches for treatment of facial deformities in syndromes with craniofacial abnormalities. Impaired jaw functions and asymmetry can be addressed with the use of alloplastic prostheses, achieving sufficient mouth opening and restoring the symmetry of the lower facial skeleton.
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Prótese Articular , Transtornos da Articulação Temporomandibular , Criança , Humanos , Qualidade de Vida , Estudos Retrospectivos , Articulação Temporomandibular/cirurgia , Transtornos da Articulação Temporomandibular/cirurgia , Resultado do TratamentoRESUMO
OBJECTIVES: To analyse the differences between dental age and chronological age and dental anomalies in individuals with Van der Woude syndrome (VWS) and compare with non-syndromic cleft palate (NSCP) and non-cleft controls. MATERIALS AND METHODS: In total, 204 oral panoramic radiographs (118 girls and 86 boys) consisting of 51 VWS patients (age xÌ = 8.17 ± 1.34 years), 51 NSCP patients (age xÌ = 8.09 ± 1.41 years), and 102 normative non-cleft children (age xÌ = 8.62 ± 1.24 years) were collected. Dental stages were assessed by the Demirjian method, with the local dental maturity index as reference. Dental anomalies including agenesis were investigated. Statistical differences were determined by One-way ANOVA and regression. Repeatability was calculated by an intra-class correlation test and 95% confidence interval. RESULTS: The difference between dental age and chronological age of the VWS group (0.12 years) and the NSCP group (0.09 years) was significantly lower than the non-cleft group (0.40 years) (P = 0.002). There was no significant difference between the VWS and NSCP groups (P = 0.885). Hypodontia was more prevalent in both the VWS group (37.25%, P = 0.0001) and the NSCP group (19.60%, P = 0.035) compared with the non-cleft group (5.88%). The odds for hypodontia in the VWS group were approximately double compared with the NSCP group. In VWS patients, the most commonly missing teeth were the permanent second premolars and the maxillary permanent laterals incisors. Peg-shaped teeth had a prevalence of 13.70% in VWS patients. CONCLUSIONS: In VWS and NSCP patients compared with non-cleft children, the difference in dental age compared with chronological age decreased. Hypodontia occurs at a high prevalence in VWS and NSCP patients compared with non-cleft children.
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Anormalidades Múltiplas , Fenda Labial , Fissura Palatina , Criança , Fenda Labial/diagnóstico por imagem , Fissura Palatina/complicações , Fissura Palatina/diagnóstico por imagem , Cistos , Feminino , Humanos , Lactente , Lábio/anormalidades , Masculino , Estudos RetrospectivosRESUMO
BACKGROUND: It is suggested that dental agenesis affects maxillary protrusion and dental arch relationship in children with unilateral cleft lip and palate (UCLP). In addition, an association between the need for orthognathic surgery and dental agenesis is reported. AIM: The aim was to study the impact of maxillary dental agenesis on craniofacial growth and dental arch relationship in 8-year-old children with UCLP. SUBJECTS AND METHODS: The sample consisted of individuals with UCLP from Scandcleft randomized trials. The participants had available data from diagnosis of maxillary dental agenesis as well as cephalometric measurements (n = 399) and GOSLON assessment (n = 408) at 8 years of age. RESULTS: A statistically significant difference was found for ANB between individuals with agenesis of two or more maxillary teeth (mean 1.52°) in comparison with those with no or only one missing maxillary tooth (mean 3.30° and 2.70°, respectively). Mean NSL/NL was lower among individuals with agenesis of two or more maxillary teeth (mean 9.90°), in comparison with individuals with no or one missing maxillary tooth (mean 11.46° and 11.45°, respectively). The number of individuals with GOSLON score 4-5 was 47.2% in the group with two or more missing maxillary teeth and 26.1% respectively 26.3% in the groups with no or one missing maxillary tooth. No statistically significant difference was found in the comparison between individuals with no agenesis or with agenesis solely of the cleft-side lateral. CONCLUSION: Maxillary dental agenesis impacts on craniofacial growth as well as dental arch relationship and should be considered in orthodontic treatment planning.
Assuntos
Fenda Labial , Fissura Palatina , Criança , Fenda Labial/complicações , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Arco Dental , Humanos , Ensaios Clínicos Controlados Aleatórios como AssuntoRESUMO
OBJECTIVE: To evaluate whether dental arch relationships at 6 years of age can categorize treatment outcome and predict later need for orthognathic surgery in children with unilateral cleft lip and palate (UCLP). SETTING AND SAMPLE POPULATION: A retrospective longitudinal single-centre study. The study sample comprised 70 consecutive non-syndromic children (47 boys) with complete UCLP operated on by pushback techniques during 1981-1989 and followed until early adulthood in the same cleft centre. MATERIALS AND METHODS: Dental casts and maxillomandibular relationships were assessed before orthodontic treatment and secondary alveolar bone grafting at mean age 6.1 years (range 5.6-6.8) using the 5-year-olds' index and lateral cephalograms. The need for orthognathic surgery was retrieved from patient files. Student's t test, Pearson's correlation, and Kappa statistics were used in statistical analyses. RESULTS: Orthognathic surgery frequency was 41% (29/70). Those needing orthognathic surgery comprised all 3 patients with an index score of 5 (very poor), 14 of 17 (82%) scoring 4 (poor), 10 of 26 (38%) scoring 3 (fair), and 2 of 19 (11%) scoring 2 (good). Of the five patients with index score 1 (excellent), none needed osteotomies. The mean index score was 2.9. The score was significantly better in those without orthognathic surgery (2.4 versus 3.6). A significant negative correlation existed between the 5-year-olds' index and cephalometric angles ANB and anb. CONCLUSION: The use of 5-year-olds' index may help to predict treatment outcome and the clinical need for orthognathic surgery especially in patients with the lowest and highest index scores.
Assuntos
Fenda Labial , Fissura Palatina , Cirurgia Ortognática , Adulto , Criança , Pré-Escolar , Fenda Labial/cirurgia , Fissura Palatina/cirurgia , Arco Dental/cirurgia , Humanos , Masculino , Estudos Retrospectivos , Resultado do TratamentoRESUMO
OBJECTIVE: The aim of this study was to evaluate the dental age, agenesis, and morphology of children with surgically operated single-suture craniosynostoses from orthopantomographs. DESIGN: A single-centered cross-sectional observational archival study. PATIENTS: A sample of 196 Finnish patients with single-suture craniosynostosis without additional birth defects or syndromes (excluding Muenke syndrome) was included in this study. MAIN OUTCOME MEASURES: Dental age was assessed using the method developed by Demirjian et al. and modified by Nyström et al. for the Finnish population. Methods described by Tulensalo et al. and Oehlers et al. were used to study taurodontism and dens invaginatus, respectively. RESULTS: The study sample of 149 patients was divided into 3 groups: patients with sagittal synostosis (n = 103), coronal synostosis (n = 25), and metopic synostosis (n = 21). Orthopantomographs taken on average at ages 8.20 to 8.33 were used. The dental ages in different groups were on average 0.37, 0.60, and 0.66 years ahead of normative values, for sagittal, coronal, and metopic groups, respectively. Tooth agenesis, taurodontism, and invaginated teeth were found in all groups with invaginations having a high prevalence. Peg-shaped upper lateral incisors and one geminated lower lateral incisor were also found. CONCLUSIONS: These descriptive data may help improve dental care in patients with single-suture craniosynostosis.