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1.
Int Orthod ; 21(3): 100776, 2023 09.
Article in English | MEDLINE | ID: mdl-37257395

ABSTRACT

This case report describes a complex full-step class II high angle case in an adult patient treated with lingual straight-wire appliance, premolar extractions and orthognathic surgery. With the twofold aim of obtaining ideal occlusal relationship and aesthetic improvement, surgical treatment with appropriate biomechanical strategies, including extraction choice and torque control during space closure, are needed to achieve the planned results. This case report demonstrates the possibility of solving successfully severe sagittal, transverse and vertical discrepancies in an adult patient with surgical treatment by means of an invisible technique. This report also underlines the need for precise biomechanical control, including set-up overcorrections and an auxiliary spring to manage teeth inclination, in lingual orthodontics extraction cases.


Subject(s)
Malocclusion, Angle Class II , Orthognathic Surgery , Humans , Adult , Bicuspid/surgery , Torque , Malocclusion, Angle Class II/surgery , Esthetics, Dental , Cephalometry/methods
2.
Medicina (Kaunas) ; 59(3)2023 Mar 06.
Article in English | MEDLINE | ID: mdl-36984514

ABSTRACT

Background and Objectives: There is no consensus regarding the indications for and timing of ventilation tube (VT) insertion in cleft lip and palate (CLP) patients. Our aim was to search for clinical and surgical (i.e., VT insertion) characteristics that influence the hearing status in CLP. Materials and Methods: We reviewed the hearing outcome of consecutive CLP cases operated on at a single referral center. Univariate and multivariate analysis were applied as appropriate. Results: We included 285 consecutive CLP patients, 109 female and 176 male; the mean age at last follow-up was 16.2 years. Unilateral CLP was found in 249 cases and bilateral CLP in 36. Early VTs (i.e., at the time of hard palate surgery) were applied in 75 (26.3%) patients. Late VTs (i.e., after hard palate surgery during follow-up) were applied in 69 (24.2%) children, at a mean age of 6.7 years old. Hearing loss (pure-tone average > 20 dB) was found in 114 (40%) CLP patients at last available follow-up (mild hearing loss in 96 patients, moderate in 18). In univariate and multivariate analyses, we found that only the absence of early VT insertion (p = 0.0003; OR = 18.2) was an independent prognostic factor of hearing loss in CLP patients. Furthermore, when early VTs were not inserted, there was a high risk of late VT (p = 0.002; OR 13.6). Conclusions: According to our results, the absence of VT insertion at the time of hard palate surgery is an independent prognostic risk factor of hearing loss in CLP patients. Early VT placement in CLP patients may prevent hearing loss and related consequences. These findings should be tested in a large, randomized clinical trial.


Subject(s)
Cleft Lip , Cleft Palate , Deafness , Hearing Loss , Otitis Media with Effusion , Child , Humans , Male , Female , Adolescent , Cleft Palate/complications , Cleft Palate/surgery , Cleft Lip/complications , Cleft Lip/surgery , Retrospective Studies , Otitis Media with Effusion/complications , Otitis Media with Effusion/surgery , Hearing Loss/complications , Palate, Hard , Hearing , Randomized Controlled Trials as Topic
3.
Pesqui. bras. odontopediatria clín. integr ; 23: e210238, 2023. tab, graf
Article in English | LILACS, BBO - Dentistry | ID: biblio-1448791

ABSTRACT

ABSTRACT Objective: To determine the effects of orthognathic surgery on oral function and vocal quality in order to assess the need for speech therapy after surgery. Material and Methods: Thirty-seven patients scheduled for mono-jaw surgery, specifically maxillary (G1:15 patients), mandibular advancement (G2:10 patients) or mandibular set-back (G3:12 patients), were recruited for this prospective cohort study. Evaluation of oral functions, video recordings of speech articulation and audio recordings of voice were obtained before surgery (T0), and at 1 (T1) and 6 months (T2) after surgery. Spectrographic analysis and self-evaluation questionnaire regarding the vocal performance (VAPP) were performed. Both qualitative and quantitative statistical analysis was performed, mainly using generalized linear models for dichotomous data (p<0.05). Results: The formant frequencies (F1 and F2) of the main vowels vary after orthognathic surgery according to the type of surgery. Before surgery, 84% of patients analyzed showed difficulties in breathing and positioning the tongue both at rest and swallowing. Thanks to surgical correction of the malocclusion, the major part of these issues were resolved within 6 months. In 25% of cases, a change in the voice and/or articulation had occurred. Conclusion: Vocality improves after orthognathic surgery and it changes in relation to the type of surgery. However, vocality did not normalize completely. Speech assessment should be considered after surgery in order to offer adequate speech therapy if necessary.


Subject(s)
Humans , Male , Female , Adult , Postoperative Complications , Speech Acoustics , Voice Quality , Orthognathic Surgery , Speech Therapy/methods , Spectrography , Surveys and Questionnaires , Data Interpretation, Statistical , Diagnostic Self Evaluation , Malocclusion/surgery
4.
Article in English | MEDLINE | ID: mdl-35886670

ABSTRACT

Aim: Three-dimensional facial imaging systems are a useful tool that is gradually replacing two-dimensional imaging and traditional anthropometry with calipers. In this varied and growing landscape of new devices, Canfield (Canfield Scientific, Parsippany, NJ, USA) has proposed a series of static and portable 3D imaging systems. The aim of this systematic review was to evaluate the current literature regarding the validation of Canfield's Vectra imaging systems. Materials and Methods: A search strategy was developed on electronic databases including PubMed, Web of Science and Scopus by using specific keywords. After the study selection phase, a total of 10 articles were included in the present review. Results: A total of 10 articles were finally included in the present review. For six articles, we conducted a validation of the Vectra static devices, focusing especially on the Vectra M5, Vectra M3 and Vectra XT. For four articles, we validated the Vectra H1 portable system. Conclusions: All of the reviewed articles concluded that Canfield's Vectra 3D imaging systems are capable of capturing accurate and reproducible stereophotogrammetric images. Minor errors were reported, particularly in the acquisition of the perioral region, but all the evaluated devices are considered to be valid and accurate tools for clinicians.


Subject(s)
Imaging, Three-Dimensional , Photogrammetry , Anthropometry , Face/anatomy & histology , Photogrammetry/methods , Reproducibility of Results
5.
J Clin Med ; 11(9)2022 May 09.
Article in English | MEDLINE | ID: mdl-35566801

ABSTRACT

Background: The present study aims to compare the accuracy of jaw repositioning in bimaxillary orthognathic surgery using digital surgical planning in cleft lip and palate patients and in non-syndromic skeletal class III patients in order to investigate if orthognathic surgery achieves different results in the first group of patients. Method: This study included 32 class III adult patients divided into 2 groups: cleft lip and palate (A, n = 16) and non-cleft (B, n = 16). For each patient, a 2D pre-surgical visual treatment objective was performed by the surgeon to predict hard tissue changes, and the surgical outcome was compared with that planned by using cephalometric measurement (ANB, SNA, SNB, Ar-Go-Me, S-Ar-Go). The statistical analysis showed equivalence between obtained and planned results for each measurement both in group A and in group B, but the difference between the planned and the obtained result was smaller in group B regarding ANB angle. Conclusions: Digital surgical planning ensures better predictability of the surgical results and higher accuracy of surgery in complex patients, such as those with cleft lip and palate.

6.
Minerva Pediatr (Torino) ; 74(2): 160-166, 2022 04.
Article in English | MEDLINE | ID: mdl-32418409

ABSTRACT

BACKGROUND: This study aimed to evaluate craniofacial cephalometric morphology in patients with unilateral clefts (UCLP) and in those with bilateral clefts (BLCP). METHODS: The lateral radiographs of 129 patients with UCLP or BCLP referred to San Bortolo Hospital in Vicenza between January 2010 and January 2019 were retrospectively evaluated. Fourteen cephalometric hard tissue landmarks per radiographs were digitized and fifteen measurements (eight angle measurements, six linear measurements, and one ratio measurement) were calculated. Statistical analyses were carried using Chi-squared test (P<0.05). RESULTS: The analysis included 33 patients (25%) with BCLP, 41 (32%) with right UCLP and 55 (43%) with left UCLP. Adjusting for age and sex, left UCLP was associated with lower gonial angle (mean difference [MD] -2.7, 95% CI 5.2 to -0.0), lower upper gonial angle (MD -2.2, 95% CI -3.9 to -0.6) but higher posterior facial height (MD 2.4, 95% CI 0.3 to 4.4) with respect to right UCLP. Adjusting for age and sex, BCLP was associated with lower articular angle (MD -2.8, 95% CI -5.5 to -0.2) but higher SNA (MD 2.6, 95% CI 0.6 to 4.6) and higher ANB (MD 3.2, 95% CI 1.3 to 5.0) with respect to UCLP. CONCLUSIONS: Differences between the two groups were found in relation to three cephalometric values: articular angle, that is bigger in UCLP patients; SNA, that is bigger in BCLP patients; ANB, that is bigger in BCLP patients. This different craniofacial morphology can influence the treatment plan in cleft lip and palate patients.


Subject(s)
Cleft Lip , Cleft Palate , Cephalometry/methods , Cleft Lip/complications , Cleft Lip/diagnostic imaging , Cleft Palate/complications , Cleft Palate/diagnostic imaging , Humans , Retrospective Studies
7.
Pesqui. bras. odontopediatria clín. integr ; 21(supl.1): e0029, 2021. tab, graf
Article in English | LILACS, BBO - Dentistry | ID: biblio-1346686

ABSTRACT

ABSTRACT Objective: To evaluate the accuracy of Virtual Surgical Planning (VSP) comparing VSPs and post-operative CBCT scans in patients undergoing bimaxillary orthognathic surgery of severe Skeletal Class III malocclusion. Material and Methods: Twenty-three patients (9 males and 14 females, mean age 24.1 ± 7.0 years) were selected and submitted to bimaxillary orthognathic surgery. Pre-operative VSPs and post-operative CBCTs were compared using both linear (taking into account four skeletal and six dental landmarks, each one described by the respective coordinates) and angular measures (seven planes in total). The threshold discrepancies for post-operative clinical acceptable results were set at ≤2 mm for liner and ≤4° for angular discrepancies. The mean difference values and its 95% confidence interval were identified, comparing which planned and which obtained in absolute value. Results: There were significant statistical differences for all absolute linear measures investigated, although only two overcome the linear threshold value of 2mm in both X and Y-linear dimensions. Linear deviations in Z-linear dimension do not reach statistical significance. All 12 angular measures reach the statistical significance, although none overcome the threshold angular value of 4°. Angular deviation for roll register the higher accuracy in contrast to pitch and yaw. Conclusion: Virtual surgical planning is a reliable planning method to be used in orthognathic surgery field; as a matter of fact, although some discrepancies between the planned on the obtained are evident, most of them meet the tolerability range.


Subject(s)
Humans , Male , Female , Adult , Aged , Epidemiologic Studies , Retrospective Studies , Orthognathic Surgery , Malocclusion/pathology , Malocclusion, Angle Class III/pathology , Data Interpretation, Statistical , Italy
8.
Pesqui. bras. odontopediatria clín. integr ; 21(supl.1): e0020, 2021. tab, graf
Article in English | LILACS, BBO - Dentistry | ID: biblio-1346688

ABSTRACT

ABSTRACT Objective: To exploit 3D measurement technology to determine any correlation between neonatal palate morphology and occlusal outcomes at five years in patients receiving surgery for unilateral cleft lip and palate (CLP). Material and Methods: Twenty-nine neonatal and 5-year models treated by the same surgeon using the same protocol for CLP correction were scanned using a high-resolution structured-light scanner and stored in stl format. Dedicated software was used to make linear and surface area measurements on the neonatal models, and each digitized 5-year model was assigned a Five-Year-Old (5YO) index score on three separate occasions by the same investigator. Results: Minimum, maximum, mean, standard deviation and standard error were calculated for each variable considered, and the Pearson coefficient was used to identify any correlations between neonatal variables and 5YO scores. Linear regression analysis showed that the only variable to approach significance was the posterior width of the cleft, which showed an R2 equal to 0.111, indicating that it accounts for 11% of the variability of the 5YO index. There was no other appreciable correlation between linear measurements, surface areas, or their inter-relationships. Conclusion: There is no correlation between neonatal morphological characteristics and occlusal outcomes at 5 years in CLP patients treated via the surgical protocol considered.


Subject(s)
Humans , Male , Female , Child, Preschool , Orthodontics , Child , Cleft Palate/pathology , Jaw Abnormalities , Linear Models , Clinical Protocols , Italy
9.
J Clin Med ; 9(6)2020 Jun 12.
Article in English | MEDLINE | ID: mdl-32545621

ABSTRACT

BACKGROUND: Technological progress has led to the transition to digital methods to perform surgical planning and to obtain surgical splints with CAD/CAM technologies. The present study aimed to compare the accuracy of jaw repositioning in bimaxillary orthognathic surgery using traditional and digital surgical planning in skeletal class III patients. METHODS: This study included 60 skeletal class III patients divided into two groups based on the method used to perform surgical planning: traditional (T, n = 30) and digital (D, n = 30). For each patient, a 2D presurgical Visual Treatment Objective (VTO) was prepared and the outcome of the surgery was compared with that planned by using determined cephalometric measurements (ANB, SNA, SNB, Ar-Go-Me, S-Ar-Go). Statistical analysis showed that the measurements planned and those obtained after surgery were equivalent in Group D. For Group T, the analysis showed equivalence only for one of the considered measurements (ANB). By comparing the results of the two groups, Group D presented a lower level of error than Group T. CONCLUSIONS: Digital surgical planning performed significantly better in terms of accuracy of jaw repositioning than the traditional protocol.

10.
Int Orthod ; 18(3): 576-583, 2020 Sep.
Article in English | MEDLINE | ID: mdl-32418764

ABSTRACT

This article describes the complex dental treatment of a 17-year-old girl with skeletal Class I, severe mandibular asymmetry, maxillary retrusion, normodivergent pattern, left canine and molar Class II, canting of the occlusal plane, lateral left cross-bite, deep bite, upper and lower incisors retrusion and an increased curve of Spee. To achieve optimal results, a multidisciplinary approach to treatment was adopted involving orthodontics and maxillofacial surgery. The surgical phase was supported by virtual surgical planning with dedicated software. Thanks to the development of the three-dimensional radiological findings, a visualization and an accurate simulation of all the surgery-steps help to determine reproducibly and with high precision the best adjustments to do. Firstly, the excessive curve of Spee, the incisors retrusion and the deep bite were corrected with orthodontic treatment. The surgical treatment plan consisted of a palatal expansion, maxillary advancement, zygomatic grafts, bilateral sagittal osteotomy for mandibular correction and genioplasty. Orthodontic treatment was continued to finish with all the objectives achieved. After two years, the patient was satisfied with her facial and dental treatment results and with her oral function as well.


Subject(s)
Facial Asymmetry/surgery , Mandible/surgery , Surgery, Oral/methods , Adolescent , Cephalometry , Dental Occlusion , Genioplasty/methods , Humans , Malocclusion, Angle Class I , Malocclusion, Angle Class II/therapy , Malocclusion, Angle Class III/therapy , Maxilla/surgery , Models, Dental , Orthodontics, Corrective/methods , Palatal Expansion Technique , Radiography, Panoramic , Retrognathia
11.
J Clin Pediatr Dent ; 43(2): 126-130, 2019.
Article in English | MEDLINE | ID: mdl-30730800

ABSTRACT

OBJECTIVES: The aim of this study is to evaluate the prevalence and distribution of hypodontia, inside and outside the cleft area, in an Italian population with a non-syndromic unilateral (UCLP) and bilateral (BCLP) cleft lip and palate on panoramic radiographs and comparing it with a control sample. STUDY DESIGN: Case group was ethnically uniform and consisted in 233 patients. The control group was composed of 1000 subjects. Patients included were between seven and fifteen years old. Descriptive analysis, using absolute and relative frequencies, was performed to check out the prevalence of gender distribution, hypodontia and cleft formation. Statistical analysis was conducted with Chi-squared test, Yate's correction and the Fisher's exact test. The power was set higher than 0.8 for each test. RESULTS: 160 cleft patients (68.68%) presented at least one missing tooth, while 88 patients in the control groups presented agenesis (8.80%). A statistically significant difference was found in case and control groups for upper lateral incisors (37.34% and 48.07% in the case group against 2.50% and 2.60% in the control group), upper and lower second premolars (8.58%, 6.44%, 5.58% and 6.01% in the cleft group and 0.60%, 0.60%, 2.50% and 2.70% in the control group). CONCLUSION: Higher prevalence of dental agenesis in the maxillary dental arch is explained by the cleft defect. Higher prevalence of mandibular second premolars agenesis cannot be explained by the anatomical defect and suggests a multifactorial aetiology, including environmental and genetic factors, of the cleft condition.


Subject(s)
Anodontia , Cleft Lip , Cleft Palate , Adolescent , Anodontia/complications , Anodontia/epidemiology , Case-Control Studies , Child , Cleft Lip/complications , Cleft Palate/complications , Humans , Italy/epidemiology , Prevalence
12.
Cureus ; 10(4): e2403, 2018 Apr 02.
Article in English | MEDLINE | ID: mdl-29872584

ABSTRACT

Dermoid cysts of the floor of the mouth are rare, accounting for 11% of all dermoid cysts in the head and neck region. We report a case of a dermoid cyst of the floor of the mouth in a 12-year-old boy investigated with ultrasonography, magnetic resonance imaging (MRI), and non-enhanced computed tomography (CT) scans. The lesion contained free calcified corpuscles (i.e., the "sack of marbles" sign) considered pathognomonic for a dermoid. Diagnostic imaging may allow diagnosis of a dermoid of the floor of the mouth and plays a pivotal role in depicting the anatomic location of a cyst, thus guiding the surgeon for an optimal surgical approach.

13.
Minerva Stomatol ; 67(4): 156-164, 2018 Aug.
Article in English | MEDLINE | ID: mdl-29388416

ABSTRACT

BACKGROUND: The aim of this study was to evaluate the prevalence and the distribution of teeth agenesis inside and outside the cleft area in an Italian population with a non-syndromic unilateral (UCLP) and bilateral (BCLP) cleft lip and palate. METHODS: Two hundred thirty-three digital panoramic radiographs (151 females, 82 males) of patients between seven and fifteen years old were recruited from the maxillo-facial surgery clinic of the San Bortolo Hospital of Vicenza according with the following inclusion criteria: unilateral or bilateral cleft lip and palate, no other syndromes, no previous orthodontic treatment, no previous teeth extractions and good quality of digital panoramic radiographs. Statistical analyses were carried using Chi-squared test (P value <0.05). RESULTS: One hundred sixty subjects out of 233 (68.67%) presented with agenesis of at least 1 missing permanent tooth. The prevalence of hypodontia is significantly more frequent in BCLP patients than UCLP ones with a total of 153 missing teeth (51.34%). The most frequent missing tooth is the lateral incisor in the upper left side (37.6%) followed by the lateral incisor in the upper right side (29.2%), the upper second premolars, the upper central incisors and the upper canine. CONCLUSIONS: This study is the first that evaluates the prevalence and distribution of hypodontia in an Italian population with cleft lip and palate. The higher congenital absence of dental elements in this group than healthy general patients is an important aspect to consider for a functional and aesthetic oral rehabilitation.


Subject(s)
Anodontia/epidemiology , Cleft Lip/epidemiology , Cleft Palate/epidemiology , Adolescent , Anodontia/diagnostic imaging , Child , Comorbidity , Dentition, Permanent , Female , Humans , Italy/epidemiology , Male , Prevalence , Radiography, Panoramic
14.
Plast Reconstr Surg ; 139(2): 468e-476e, 2017 Feb.
Article in English | MEDLINE | ID: mdl-28121882

ABSTRACT

BACKGROUND: In the past 130 years, the temporalis muscle flap has been used for a variety of different indications. In this age of microsurgery and perforator flaps, the temporalis muscle flap still has many useful applications for craniofacial reconstruction. METHODS: Three hundred sixty-six temporalis muscle flaps were performed in a single center between 1978 and 2012. The authors divided the cases into two series-before and after 1994-because, after 1994, they started to perform free flap reconstructions, and indications for reconstruction with a temporalis muscle flap were changed RESULTS:: In the series after 1994, flaps were most commonly used for reconstruction of defects in the maxilla, mandible, and oropharynx, in addition to facial reanimation and filling of orbital defects. Complications included total flap necrosis (1.6 percent) and partial flap necrosis (10.7 percent). The rate of material extrusion at the donor site decreased after porous polyethylene was uniformly used for reconstruction from 17.1 to 7.9 percent. CONCLUSIONS: The pedicled temporalis muscle flap continues to have many applications in craniofacial reconstruction. With increasing use of free flaps, the authors' indications for the pedicled temporalis muscle flap are now restricted to (1) orbital filling for congenital or acquired anophthalmia; (2) filling of unilateral maxillectomy defects; and (3) facial reanimation in selected cases of facial nerve palsy. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.


Subject(s)
Face/surgery , Plastic Surgery Procedures/methods , Surgical Flaps , Temporal Muscle/transplantation , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Male , Middle Aged , Time Factors , Young Adult
15.
Am J Orthod Dentofacial Orthop ; 142(3): 289-99, 2012 Sep.
Article in English | MEDLINE | ID: mdl-22920694

ABSTRACT

INTRODUCTION: Many authors have examined the surgical bone treatment of cleft palate patients, but no study has emphasized the role of orthodontic therapy. The aims of this study were to evaluate the long-term stability of bone grafts when using an orthodontic-surgical protocol, to determine the success of bone grafts in minor vs severe clefts, and to develop a qualitative method for assessing the success of bone grafting. METHODS: Forty-nine patients were included in this study. Occlusal x-rays were taken before (T0), immediately after (T1), and at least 1 year after bone grafting (T2). Two radiographic parameters were analyzed adjacent to the cleft side: the vertical bone level (Bergland scale) and the horizontal bone level (Witherow-derived scale). RESULTS: The bone graft success at T2 was 91.84% (95% confidence interval, 84.55-96.41). The severity of the cleft before grafting was not statistically correlated with success at T2 (P <0.05). The concordance rate between Bergland and Witherow values was 87.07% (95% confidence interval, 82.69-90.69). The variables analyzed (sex, age, type of cleft, lateral incisor agenesis) were not statistically correlated (P <0.05) with the stability of bone graft. Based on the results, the only factor involved in the stability of the graft seems to be dental age at the time of bone grafting and the orthodontic therapy before and after grafting. CONCLUSIONS: It seems appropriate to recommend early application of a surgical-orthodontic protocol to treat cleft lip and palate patients, prevent postoperative bone resorption, and guarantee correct positioning of the teeth.


Subject(s)
Bone Transplantation , Cleft Palate/surgery , Graft Survival , Orthodontics, Corrective , Adolescent , Age Factors , Alveolar Bone Loss/prevention & control , Alveolar Process/surgery , Child , Cleft Palate/complications , Cleft Palate/pathology , Female , Humans , Male , Malocclusion/complications , Malocclusion/therapy , Outcome Assessment, Health Care/methods , Palatal Expansion Technique , Retrospective Studies , Statistics, Nonparametric , Tooth Abnormalities/complications
17.
Eur J Hum Genet ; 15(9): 992-4, 2007 Sep.
Article in English | MEDLINE | ID: mdl-17534374

ABSTRACT

Clefts of the lip with or without cleft palate (CL/P) are one of the most common birth defects, occurring in 1/700-1/1,000 infants born alive. The nature of the genetic contribution is still to be clarified; however, some chromosome regions and candidate genes have been proposed for this malformation. Recently, a couple of genes, PVR and PVRL2, mapping in the candidate region OFC3 on chromosome 19q13.31, have been investigated because of their homology to PVRL1, a gene previously shown to cause the Margarita Island CL/P-ectodermal dysplasia syndrome. In the present work, we investigated PVR and PVRL2 genes by family-based linkage disequilibrium analysis using a sample collected from the Italian population. In contrast to previous analyses on other populations, we could not find any statistically significant association between the markers alleles and non-syndromic clefting.


Subject(s)
Cell Adhesion Molecules/genetics , Cleft Lip/genetics , Cleft Palate/genetics , Linkage Disequilibrium , Membrane Proteins/genetics , Receptors, Virus/genetics , Adult , Alleles , Child , Chromosomes, Human, Pair 19 , Female , Genetic Markers , Humans , Italy , Male , Nectins , Polymorphism, Single Nucleotide
18.
Hum Mutat ; 27(3): 294, 2006 Mar.
Article in English | MEDLINE | ID: mdl-16470748

ABSTRACT

Cleft lip with or without cleft palate (CL/P) is the most common inborn craniofacial anomaly. Affected individuals require extensive medical and psychosocial support. Although CL/P has a complex and poorly understood etiology, increasing evidence of folate pathway involvement has been collected. So far, only the MTHFR gene has been extensively investigated as a risk factor for CL/P, while little has been done to test genetic variations in the folate biosynthetic pathways that may influence the infant's susceptibility to these birth defects. To date, this paper presents the first attempt to verify the involvement of four genes belonging to the folate pathway in nonsyndromic cleft onset. We used a case-parent triad design to test for linkage disequilibrium in the case of seven SNPs mapping on four different genes: transcobalamin 1 and 2 (TCN1 and TCN2), methionine synthase (MTR), and MTR reductase (MTRR). Our finding suggests that TCN2 is involved in causing CL/P. Indeed, significant overtransmission of the C allele was observed at the polymorphism c.776C>G (p.Pro259Arg) to the affected offspring (P=0.01). Results obtained with additional TCN2 polymorphisms suggest that c.776C>G may be functionally related to CL/P. However, because conflicting data exist with regard to the effect of the polymorphism in transcobalamin 2 function or in perturbing plasma levels of key molecules in the folate pathway, further investigation is warranted to confirm our data.


Subject(s)
Cleft Lip/genetics , Cleft Palate/genetics , Folic Acid/metabolism , Gene Expression Regulation , Genetic Predisposition to Disease , Transcobalamins/genetics , 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/genetics , Alleles , Ferredoxin-NADP Reductase/genetics , Genetic Markers , Humans , Polymorphism, Genetic , Polymorphism, Single Nucleotide
19.
Clin Imaging ; 28(1): 64-8, 2004.
Article in English | MEDLINE | ID: mdl-14996452

ABSTRACT

We present a rare case of parosteal chondrosarcoma of the madibular condyle. The patient was referred for a functional limitation of the left temporo-mandibular joint. CT and MRI examinations demonstrated a 3.5-cm cystic mass with a peripheral rim of contrast enhancement located in the left pterygo-maxillary space. The mass had partial intraarticular spread causing deformation and focal cortical erosion of the medial aspect of the condylar head. The lesion was surgically removed; the histological diagnosis was of low-grade chondrosarcoma.


Subject(s)
Bone Neoplasms/pathology , Chondrosarcoma/pathology , Mandibular Condyle/pathology , Bone Neoplasms/diagnostic imaging , Bone Neoplasms/surgery , Chondrosarcoma/diagnostic imaging , Chondrosarcoma/surgery , Female , Humans , Magnetic Resonance Imaging , Mandibular Condyle/diagnostic imaging , Mandibular Condyle/surgery , Middle Aged , Tomography, X-Ray Computed
20.
J Craniofac Surg ; 14(2): 130-43, 2003 Mar.
Article in English | MEDLINE | ID: mdl-12621282

ABSTRACT

Nonsyndromic cleft of the lip and/or palate (CLP or orofacial cleft) derives from an embryopathy with consequent failure of the nasal process and/or palatal shelves fusion. This severe birth defect is one of the most common malformations among live births. Nonsyndromic CLP is composed of two separate entities: cleft lip and palate (CL+/-P) and cleft palate only (CPO). Both have a genetic background, and environmental factors probably disclose these malformations. In CL+/-P, several loci have been identified, and, in one case, a specific gene has also been found. In CPO, one gene has been identified, but many more are probably involved. Because of the complexity of the genetics of nonsyndromic CLP as a result of the difference between CL+/-P and CPO, heterogeneity of each group caused by the number of involved genes, type of inheritance, and interaction with environmental factors, we discuss the more sound results obtained with different approaches: epidemiological studies, animal models, human genetic studies, and in vitro studies.


Subject(s)
Cleft Lip/genetics , Cleft Palate/genetics , Animals , Chromosome Mapping , Cleft Lip/etiology , Cleft Palate/etiology , Disease Models, Animal , Environment , Epidemiologic Studies , Humans , Nose/embryology , Palate/embryology
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