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Van der Woude syndrome (VWS) is a rare syndrome of genetic etiology, commonly occasioned by mutations in the IRF6 gene and that causes disorders in craniofacial development. VWS is characterized by the presence of paramedian fistulas in the lower lip and cleft lip and / or cleft palate. Although some dental phenotypes have been reported in this syndrome, multiple and rare hypodontias were not described. Through this case report, we present a case of Van der Woude Syndrome (VWS) with rare and multiple hypodontia in which clinical data and radiographic exams were evaluated. The patient presented hypodontia of eight permanent teeth (lateral incisors, second premolars and second molars). So, when the dentist recognizes multiple and/or rare hypodontias, for an accurate diagnosis, detailed examination of the lower lip is indicated, as well as a survey of the family history and referral for genetic counseling, since the syndrome presents high penetrance. The patient is expected to be rehabilitated to have a good quality of life. Rehabilitation in these cases requires alveolar bone graft, orthodontics and prosthesis to replace missing teeth.

Purpose: The purpose of this study was to conduct a critical literature review on oral conditions and dental phenotypes described in patients with Syndromic Pierre Robin Sequence (SPRS). The review of theMaterials and Methods: literature on oral conditions and dental phenotypes was performed in patients with SPRS through an active search in three databases, PubMed, Medline and SciELO, using the descriptors: “Dental Abnormalities”, “Tooth Abnormalities”, “Oral Diagnosis”, “Dentistry”, “Oral Health”, combined with: “Pierre Robin Syndrome”, “Mandibulofacial Dysostosis”, “22q11 Deletion Syndrome”, and “Stickler”. For the selection of manuscripts, papers published between 2014 and 2022 were analyzed according to the inclusion criteria. Were selected 7 studiesResults: addressing dental conditions or dental anomalies in SPRS in the 3 syndromes chosen: 22q11.2 Deletion Syndrome (22q11.2 DS), Treacher Collins Syndrome (TCS) and Stickler Syndrome (SS). In the 3 studies on 22q.11 DS, it was observed that the most reported anomalies were dental agenesis, impacted canine, enamel hypoplasia and supernumerary tooth, respectively. In studies on TCS, with a reduced number of subjects, dental crowding and occlusal changes were the most common oral conditions. No study addressed the dental phenotypes of SS. Conclusions: The importance of further studies on this specic topic is emphasized, since SPRS involves micrognathia and mandibular retroposition. Thus, these clinical ndings can be valuable for all professionals who provide assistance to these patients. Thus, based on this knowledge, it is possible to plan more effective rehabilitation, contributing to improving the quality of life of these individuals.

Orofacial clefts (OC) represent some of the most common congenital malformations and affect multiple structures in the craniofacial region. There are a wide range of morphological OC types within the spectrum of both non-syndromic OC (NSOC) and syndromic OC, including cleft lip (CL), cleft lip and palate, (CLP), and cleft palate (CP). Here, we describe the most frequent dental anomalies seen in the permanent dentition of individuals with NSOC, comparing them between the three main cleft types (CL, CLP, and CP). We present these findings from the perspective of prevalence relating to each anomaly, as well as the clinical characteristics and potential impact on the rehabilitation process. The investigation of dental anomalies associated with NSOC is important, helping to expand the phenotypic characterization of NSOC, improve the initial diagnostics, and establish appropriate rehabilitation and counseling.

Genetic variants in multiple genes and loci have been associated with the risk of nonsyndromic cleft lip with or without cleft palate (NSCL ± P). However, the estimation of risk remains challenge, because most of these variants are population-specific rendering the identification of the underlying genetic risk difficult. Herein we examined the use of machine learning network in previously reported single nucleotide polymorphisms (SNPs) to predict risk of NSCL ± P in the Brazilian population. Random forest and neural network methods were applied in 72 SNPs in a case-control sample composed by 722 NSCL ± P and 866 controls for discrimination of NSCL ± P risk. SNP-SNP interactions and functional annotation biological processes associated with the identified NSCL ± P risk genes were verified. Supervised random forest decision trees revealed high scores of importance for the SNPs rs11717284 and rs1875735 in FGF12, rs41268753 in GRHL3, rs2236225 in MTHFD1, rs2274976 in MTHFR, rs2235371 and rs642961 in IRF6, rs17085106 in RHPN2, rs28372960 in TCOF1, rs7078160 in VAX1, rs10762573 and rs2131960 in VCL, and rs227731 in 17q22, with an accuracy of 99% and an error rate of approximately 3% to predict the risk of NSCL ± P. Those same 13 SNPs were considered the most important for the neural network to effectively predict NSCL ± P risk, with an overall accuracy of 94%. Multivariate regression model revealed significant interactions among all SNPs, with an exception of those in FGF12 and MTHFD1. The most significantly biological processes for selected genes were those involved in tissue and epithelium development; neural tube closure; and metabolism of methionine, folate, and homocysteine. Our results provide novel clues for genetic mechanism studies of NSCL ± P and point out for a machine learning model composed by 13 SNPs that is capable of predicting NSCL ± P risk. Although validation is necessary, this genetic panel can be useful in the near future to assist in NSCL ± P genetic counseling.

Resumen Introducción: El oscurecimiento de un diente anterior interfiere negativamente en el aspecto de la sonrisa, y varias son las causas que pueden ser responsables por este oscurecimiento. Objetivo: Describir las técnicas de blanqueamiento mixto e inmediato a través del reporte de dos casos clínicos. Caso 1: Individuo de sexo masculino, con Síndrome de Treacher Collins, se quejó sobre alteración cromática del diente 33, verificada mediante examen clínico, radiográficamente presencia de tratamiento endodóntico satisfactorio. Por lo que fue planeado el blanqueamiento interno mediante técnica mixta. Caso 2: Individuo de sexo masculino, con Síndrome de Apert reportó cambio cromático en el diente 22, observado en el examen clínico, radiográficamente presentando tratamiento endodóntico insatisfactorio. Se realizó retratamiento endodóntico y a los 6 meses se realizó blanqueamiento interno mediante técnica inmediata. Conclusión: El blanqueamiento dental ejecutado con las técnicas mixtas e inmediatas, devuelve la armonía de la sonrisa, recuperando el color ideal y elevando la autoestima a los pacientes.

Genetic variants in multiple genes and loci have been associated with the risk of nonsyndromic cleft lip with or without cleft palate (NSCL ± P). However, the estimation of risk remains challenge, because most of these variants are population-specific rendering the identification of the underlying genetic risk difficult. Herein we examined the use of machine learning network in previously reported single nucleotide polymorphisms (SNPs) to predict risk of NSCL ± P in the Brazilian population.Random forest and neural network methods were applied in 72 SNPs in a case-control sample composed by 722 NSCL ± P and 866 controls for discrimination of NSCL ± P risk. SNP-SNP interactions and functional annotation biological processes associated with the identified NSCL ± P risk genes were verified.Supervised random forest decision trees revealed high scores of importance for the SNPs rs11717284 and rs1875735 in FGF12, rs41268753 in GRHL3, rs2236225 in MTHFD1, rs2274976 in MTHFR, rs2235371 and rs642961 in IRF6, rs17085106 in RHPN2, rs28372960 in TCOF1, rs7078160 in VAX1, rs10762573 and rs2131960 in VCL, and rs227731 in 17q22, with an accuracy of 99% and an error rate of approximately 3% to predict the risk of NSCL ± P. Those same 13 SNPs were considered the most important for the neural network to effectively predict NSCL ± P risk, with an overall accuracy of 94%. Multivariate regression model revealed significant interactions among all SNPs, with an exception of those in FGF12 and MTHFD1. The most significantly biological processes for selected genes were those involved in tissue and epithelium development; neural tube closure; and metabolism of methionine, folate, and homocysteine.Our results provide novel clues for genetic mechanism studies of NSCL ± P and point out for a machine learning model composed by 13 SNPs that is capable of predicting NSCL ± P risk.Although validation is necessary, this genetic panel can be useful in the near future to assist in NSCL ± P genetic counseling.

Objective Subjects with cleft lip and palate (CLP) present high prevalence of dental agenesis. Among candidate genes for these phenotypes is IRF6. However, genetic studies do not analyze dental agenesis as a phenotype associated with cleft. Therefore, we investigated the frequency of rare and novel variations in IRF6 in subjects with non-syndromic unilateral cleft lip and palate (NSUCLP), with and without dental agenesis. Subjects and methods Genomic DNA samples of 100 subjects with NSUCLP with and without dental agenesis and 50 controls were sequenced. IRF6 mutational screening was conducted by direct sequencing. Results Ten new and rare missense variations were identified, two in the group cleft with agenesis and eight in the group cleft without agenesis, and none were found in control group. In silico analysis revealed four variations as potentially deleterious, being two in the group with cleft and agenesis and two in the group with cleft without agenesis. Conclusion The study identified novel IFR6 variations in subjects with NSUCLP with or without associated dental agenesis. The hypothesis of a higher frequency of deleterious variations in the subjects with cleft associated with dental agenesis, when compared to the group of cleft without agenesis and control without cleft, was not supported.

The objective was to investigate dental phenotypes in individuals with non-syndromic Pierre Robin Sequence (ns-PRS) and compare the prevalence of these phenotypes with subjects with non-syndromic cleft palate (ns-CP) and a control group with subjects without any craniofacial anomalies.A total of 760 panoramic radiographs of 330 individuals (110 with ns-PRS; 110 with ns-CP and 110 without any malformations) were digitized and evaluated regarding the diagnosis of taurodontism, tooth agenesis, root dilaceration and tooth transposition. Chi-square test was applied to compare the occurrence of dental phenotypes between groups. A P value of less than 0.05 was considered statistically significant.Total prevalence of dental phenotypes was 94.5% of ns-PRS; 54.5% of ns-CP and 59.1% of the control group subjects with a statistically significant difference for the ns-PRS when compared to the other two groups. Two dental phenotypes, taurodontism and dental agenesis were identified with statistically significant higher prevalences in subjects with ns-PRS when compared with the ns-CP group and the control group (p 0.001). Taurodontism was the most prevalent dental phenotype, with 92.73% in the ns-PRS group, 40.91% for ns-CP and 44.55% in the control group. Tooth agenesis had a prevalence of 22.7% for ns-PRS, 4.5% for ns-CP and no case in the control group. For the prevalence of root dilaceration and tooth transposition, no statistically significant differences were observed between the three groups.Due to the high frequency of taurodontism in individuals with ns-PRS, we suggested that this novel phenotype would be important in the phenotypic screening of ns-PRS and could be considered as a phenotype associated with ns-PRS.

Saliva when compared to blood collection has the following advantages: it requires no specialized personnel for collection, allows for remote collection by the patient, is painless, well accepted by participants, has decreased risks of disease transmission, does not clot, can be frozen before DNA extraction and possibly has a longer storage time. Objective and Material and Methods This study aimed to compare the quantity and quality of human DNA extracted from saliva that was fresh or frozen for three, six and twelve months using five different DNA extraction protocols: protocol 1 – Oragene™ commercial kit, protocol 2 – QIAamp DNA mini kit, protocol 3 – DNA extraction using ammonium acetate, protocol 4 – Instagene™ Matrix and protocol 5 – Instagene™ Matrix diluted 1:1 using proteinase K and 1% SDS. Briefly, DNA was analyzed using spectrophotometry, electrophoresis and PCR. Results Results indicated that time spent in storage typically decreased the DNA quantity with the exception of protocol 1. The purity of DNA was generally not affected by storage times for the commercial based protocols, while the purity of the DNA samples extracted by the noncommercial protocols typically decreased when the saliva was stored longer. Only protocol 1 consistently extracted unfragmented DNA samples. In general, DNA samples extracted through protocols 1, 2, 3 and 4, regardless of storage time, were amplified by human specific primers whereas protocol 5 produced almost no samples that were able to be amplified by human specific primers. Depending on the protocol used, it was possible to extract DNA in high quantities and of good quality using whole saliva, and furthermore, for the purposes of DNA extraction, saliva can be reliably stored for relatively long time periods. Conclusions In summary, a complicated picture emerges when taking into account the extracted DNA’s quantity, purity and quality; depending on a given researchers needs, one protocol’s particular strengths and costs might be the deciding factor for its employment.

Objective Frontonasal dysplasia is a rare developmental defect of the midface, and little is known about the dental involvement in individuals with this condition. This study investigated tooth abnormalities and occlusal disorders in individuals with frontonasal dysplasia. Design Cross-sectional. Setting Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil. Interventions Clinical oral examination, analysis of patient records, and panoramic radiographs. Participants A total of 20 individuals with frontonasal dysplasia aged 7 to 17 years. Main Outcome Measures Prevalence of the several tooth abnormalities and occlusal disorders analyzed. Results A total of 19 individuals presented at least one tooth abnormality, with highly variable findings. In radiographs, 20% of individuals (all presenting oral clefts) presented agenesis of lateral incisors and second premolars. No supernumerary teeth were observed; 65% of individuals exhibited occlusal alterations, especially anterior open bite in the two individuals with median cleft lip. Conclusions Variable clinical and radiographic alterations were observed, probably due to the large variety of phenotypic characteristics. No specific dental alteration could be related with frontonasal dysplasia.

The early recognition of risk factors for the occurrence of palatally displaced canines (PDC) can increase the possibility of impaction prevention. Objective To estimate the risk of PDC occurrence in children with dental anomalies identified early during mixed dentition. Material and Methods The sample comprised 730 longitudinal orthodontic records from children (448 females and 282 males) with an initial mean age of 8.3 years (SD=1.36). The dental anomaly group (DA) included 263 records of patients with at least one dental anomaly identified in the initial or middle mixed dentition. The non-dental anomaly group (NDA) was composed of 467 records of patients with no dental anomalies. The occurrence of PDC in both groups was diagnosed using panoramic and periapical radiographs taken in the late mixed dentition or early permanent dentition. The prevalence of PDC in patients with and without early diagnosed dental anomalies was compared using the chi-square test (p

The Laboratory of Physiology provides support for the diagnosis of functional disorders associated with cleft lip and palate and also conducts studies to assess, objectively, the institutional outcomes, as recommended by the World Health Organization. The Laboratory is conceptually divided into three units, namely the Unit for Upper Airway Studies, Unit for Stomatognathic System Studies and the Unit for Sleep Studies, which aims at analyzing the impact of different surgical and dental procedures on the upper airways, stomatognathic system and the quality of sleep of individuals with cleft lip and palate. This paper describes the main goals of the Laboratory in the assessment of procedures which constitute the basis of the rehabilitation of cleft lip and palate, i.e., Plastic Surgery, Orthodontics and Maxillofacial Surgery and Speech Pathology.

Cleft lip and palate anomalies are malformations that affect patients causing some alterations. These alterations can compromise maternal nursing and lead to early introduction of bottle feeding and sugar in the diet of cleft lip and palate infants, compromising their oral health and the surgical/rehabilitation process. Objective: The purpose of this study was to evaluate the nursing habits and the use of baby bottles in a group of cleft lip and palate infants. Material and methods: Two hundred and twenty nine mothers of cleft lip and palate infants in the age range from 6 to 36 months enrolled in the Hospital for Rehabilitation of Craniofacial Anomalies – USP/Bauru were interviewed. It was obtained data on family socioeconomic characteristics as well as mother educational level using the patient’s file. Using a pre-structured questionnaire accomplished always by the same interviewer, information on natural and artificial nursing pattern was obtained. Results: Only 21.4% of the mothers accomplished breastfed their babies. 98.25% of mothers used bottle feeding with milk and other sucrose liquids at one to ten times frequency. Nocturnal nursing habit was verified in 59.38% of total sample. Conclusion: Cleft lip and palate infants presented inadequate nursing habits in relation to both the content and the frequency ingestion, suggesting the need of a multidisciplinary guidance and following-up of infants during this age range.

Treatment of patients with cleft lip and palate is completed with fixed prostheses, removable, total, implants and aims to restore aesthetics, phonetics and function and should be guided by the basic principles of oral rehabilitation, such as physiology, stability, aesthetics, hygiene and the expectations of the patient. In order to obtain longevity of a prosthetic rehabilitation, the periodontal and dental tissue as well as the biomechanics of the prosthesis are to be respected. The purpose of this article is to describe the types of prosthetics treatment, which are performed at HRAC/USP for the rehabilitation of cleft area in adult patients.

Indivíduos com fissuras labiopalatinas frequentemente apresentam dificuldade em realizar higiene bucal adequada, apresentando maior acúmulo de placa bacteriana com consequente desequilíbrio microbiano na cavidade bucal; assim, clinicamente tornam-se considerados pacientes de alto risco para cárie dentária e doença periodontal. O controle de placa é particularmente importante no período pós-operatório do enxerto alveolar secundário, com vistas a evitar infecção pós-operatória, manter a saúde do periodonto de proteção e por consequência promover melhor reparo. O objetivo deste estudo foi avaliar a efetividade de um dentifrício com digluconato de clorexidina a 0,12% sobre a saúde bucal em indivíduos com fissuras labiopalatinas durante o período pós-operatório após enxerto alveolar secundário. Um estudo duplo cego foi realizado em 20 indivíduos aleatoriamente divididos em dois grupos (A e B). Indivíduos do grupo A (controle) receberam dentifrício convencional e indivíduos do grupo B um dentifrício à base de clorexidina a 0,12%; sendo para ambos distribuídos escovas de dente de cabeça pequena e cerdas extramacias, acrescido de instruções de higiene bucal a ser realizada três vezes ao dia (manhã, após o almoço e antes de dormir). Os indivíduos foram avaliados em dois períodos, pré-operatório e pós-operatório tardio (após três meses), nos quais foram clinicamente avaliados os índices gengival, de placa, CPOD, ceod, manchamento dentário, além da ocorrência de alterações no paladar. A análise estatística para avaliação dos parâmetros índice gengival, índice de placa, CPOD, ceod para ambos os grupos revelou ausência de diferença estatisticamente significativa entre os grupos, e entre os períodos do estudo para ambos os grupos. Apenas uma criança, a qual fez uso do dentifrício A, relatou alteração no paladar durante o período correspondente. Em todos os exames clínicos realizados não foram diagnosticados qualquer tipo de manchamento dentário indicativo de associação com o uso de clorexidina. Por conseguinte, de acordo com os resultados deste estudo, destaca-se a importância e influência positiva da atenção individualizada durante o processo de ensino da técnica de escovação, principalmente por tratar-se de procedimento cirúrgico dirigido ao público infantil ou pré-adolescente, estando a responsabilidade da execução correta dos cuidados operatórios incumbidas aos seus responsáveis. Individuals with cleft lip and palate often present difficulty to perform adequate oral hygiene, presenting greater dental plaque accumulation with consequent microbial imbalance in the oral cavity; therefore, they were clinically considered high risk individuals for dental caries and periodontal disease. Plaque control is particularly important in the postoperative period after secondary alveolar graft, aiming to avoid postoperative infection, maintain the periodontal health and consequently promote better repair. This study evaluated the effectiveness of a dentifrice containing 0.12% chlorhexidine digluconate on the oral health of individuals with cleft lip and palate during the postoperative period after secondary alveolar graft. A double blind study was conducted on 20 individuals randomly divided in two groups (A and B). Individuals in group A (control) received conventional dentifrices, and individuals in group B received a dentifrice containing 0.12% chlorhexidine digluconate. Individuals in both groups received small head toothbrushes with extra-soft bristles, as well as oral hygiene instructions for toothbrushing three times a day (at morning, after lunch and before sleep). The individuals were analyzed in two periods, namely preoperative and late postoperative (after three months), comprising evaluation of gingival index, plaque index, DMFT, dmft, tooth staining, as well as the occurrence of taste changes. Statistical analysis for the variables gingival index, plaque index, DMFT and dmft for both groups revealed no statistically significant difference between groups, and between the study periods for both groups. Only one individual, in group A, reported taste changes during the study period. No tooth staining indicating association with the utilization of chlorhexidine was observed in the clinical examinations. This study highlighted the importance and positive influence of individualized care for toothbrushing instructions, especially considering that this surgical procedure is usually performed in children or pre-teens, under responsibility of proper accomplishment of postoperative care measured by their caregivers.

Objective: To evaluate the presence of enamel alterations in deciduous maxillary central incisors of infants with unilateral cleft lip and alveolar ridge, with or without cleft palate, and to compare the occurrence and location of these alterations between the central incisor adjacent to the cleft and the contralateral incisor. Design: Intraoral clinical examination was performed after tooth cleaning and drying by a single examiner with the aid of a dental mirror, dental probe, and artificial light, with the child positioned on a dental chair. The defects were recorded in a standardized manner according to the criteria of the Modified Developmental Defects of Enamel Index. Setting: Hospital for Rehabilitation of Craniofacial Anomalies (HRAC) at Bauru, São Paulo, Brazil. Patients: One hundred one infants were evaluated. All were white, of both genders, aged 12 to 36 months and had at least two thirds of the crowns of maxillary incisors erupted. Results: Demarcated opacity was the most common defect at both cleft and noncleft sides, followed by diffuse opacity. The occurrence of hypoplasia at the cleft side was 11.8%. Most defects affected less than one third of the crown. Conclusion: The occurrence of enamel defects in deciduous maxillary central incisors of patients with unilateral cleft lip was 42.6%, mainly affecting the cleft side as to both number and severity.

Cleft lip and palate are relatively common congenital malformations, which may require specialist paedodontic treatment. In this article, the case of a 9-year-old boy with bilateral complete cleft lip and palate is presented. He attended the Hospital for Rehabilitation of Craniofacial Anomalies (HRAC) for routine examination, during which the presence of pre-canine supernumeraries bilaterally in the cleft area was seen. The extraction of these dental elements was justified by extensive carious lesions and because they represented a potential problem during secondary palatoplasty. The precautions needed in tooth extraction in patients with cleft lip and palate are described, together with illustrations of the clinical procedure.

Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-27T11:22:28Z No. of bitstreams: 0Bitstream added on 2014-05-27T14:40:24Z : No. of bitstreams: 1 2-s2.0-34548779613.pdf: 36016 bytes, checksum: 1c4b49acb881da0ec702b258320bbdeb (MD5) Made available in DSpace on 2014-05-27T11:22:28Z (GMT). No. of bitstreams: 0 Previous issue date: 2007-05-01 The increasing consumption of juices, soft drinks and teas among children has increased significantly fluoride ingestion at the age range of risk for development of dental fluorosis. Objective: The purpose of this study was to evaluate fluoride concentrations in some brands of industrialized beverages consumed by children in the city of Bauru, SP, Brazil. Material and Methods: 98 brands of beverages were analyzed, divided into 3 lots, comprising 36, 32 and 30 brands, respectively, for the first, second and third lots. Fluoride concentrations were determined by HMDS-facilitated diffusion, using a fluoride ion-specific electrode (Orion 9409). Results: Fluoride concentrations ranged between 0.04 and 1.76 μg F/mL. It was observed a wide variation in fluoride concentrations among the different brands, as well as the different lots of the same brand. There was no information on fluoride concentrations on the labels of any product. Conclusions: Some of the products analyzed could contribute significantly to the total fluoride intake and, thus, be important risk factors for development of dental fluorosis, which indicates the need of controlling the production of these beverages with respect to fluoride concentration. Araçatuba Dental School São Paulo State University, Araçatuba, SP Bauru School of Dentistry University of São Paulo, Bauru, SP Hospital for Rehabilitation of Craniofacial Anomalies University of São Paulo, Bauru, SP , A. Octavio Pinheiro Brisolla, 9-75, 17012-901 Bauru, SP Araçatuba Dental School São Paulo State University, Araçatuba, SP

Objectives In an effort to contribute to proper dental planning and define possible dental phenotypes of nonsyndromic cleft lip and/or palate (CL/P), this study aimed to investigate the occurrence of taurodontism, root dilaceration, and tooth transposition in persons with nonsyndromic CL/P, specifically analyzing the differences among gender, cleft types, and the most affected teeth. Design This retrospective study analyzed 974 panoramic x-rays from nonsyndromic Brazilians older than 16 years and categorized into the following four groups: group 1, 250 persons with unilateral cleft lip and palate; group 2, 250 persons with unilateral cleft lip; group 3, 224 persons with cleft palate; and a control group of 250 persons without clefts. Radiographs were digitalized with a scanner and analyzed. Results In the Brazilian population studied, the prevalence of taurodontism was 60.4% in group 1, 62.4% in group 2, 67.0% in group 3, and 42.8% in the control group. Root dilacerations had a prevalence of 31.2% in group 1, 29.6% in group 2, 26.3% in group 3, and 27.2% in the control group. The teeth most affected by taurodontism were 17 and 27; whereas root dilacerations were most common in teeth 38 and 48. No tooth transpositions were found in any radiograph analyzed. Conclusions Taurodontism is significantly more prevalent in Brazilians with nonsyndromic CL/P than in persons without clefts; whereas the prevalence of root dilaceration no different from that in the control group. However, root dilacerations in anterior teeth were increased in groups 1 and 2 when compared to the control group.

Objective: To assess the oral health knowledge of mothers of children with cleft lip and/or palate, analyzing the practical application of this information on the basis of the oral hygiene of the children and caries prevalence of mothers and children. Design: Cross-sectional. Setting: Pediatric Dentistry sector of the Hospital for Rehabilitation of Craniofacial Anomalies. Patients: Mothers (n = 300) and their children with cleft lip and/or palate, ages 3 years to 5 years 6 months. Materials and Methods: An interview with questions related to dietary habits and oral health knowledge and habits was conducted. Children and their mothers also were evaluated by intraoral clinical examination. Results: Of the mothers, 47.3% displayed poor oral health status (Group A) and 52.7% had a satisfactory oral health status (Group B). Children in Group A presented a mean dmft of 6.0, whereas children in Group B had a mean dmft of 5.6. No significant differences were observed between groups. Mothers demonstrated a reasonable knowledge on prevention of dental caries and oral hygiene. Conclusion: Even though the mothers interviewed had some knowledge on the causes and prevention of dental caries, other factors should be regarded as relevant in the caries process.

Objective To determine in complete unilateral cleft lip and palate (UCLP) subjects the characteristics (location, shape) of the cleft-side lateral incisor. The presence of a supernumerary tooth at the cleft side and the prevalence of hypodontia outside the cleft area were evaluated. A comparison was made of the shape of the cleft side lateral incisor to its contralateral incisor. Setting Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), Sao Paulo, Brazil. Patients Orthopantomograms of 203 subjects with UCLP and without syndromes were chronologically selected from the HRCA data bank, within an age range of 5 to 10 years. Outcome Measure Orthopantomograms were analyzed by the same observer according to established criteria. Results There were no statistically significant differences between sexes for any of the criteria studied. The cleft-side lateral incisor was present in 50.2%, and it was more commonly located at the distal side (76.5%). The congenital absence of the cleft-side lateral incisor was observed in 49.8% of the sample, and its antimere was congenitally missing in 10.9%, this difference being statistically significant. The most commonly missing tooth outside the cleft area was the maxillary second premolar. Conclusions The high prevalence of hypodontia of the permanent lateral incisor in the cleft side showed that the cleft could play an important role in this absence. There were different patterns for the presence of the cleft-side lateral incisor.

The aim of this study was to report the clinical findings and the screening of mutations of amelogenin gene of a 7-year-old boy with amelogenesis imperfecta (AI). The genomic DNA was extracted from saliva of patient and his family, followed by PCR and direct DNA sequencing. The c.261C>T mutation was found in samples of mother, father, and brother, but the mutation was not found in the sequence of the patient. This mutation is a silent mutation and a single-nucleotide polymorphism (rs2106416). Thus, it is suggested that the mutation found was not related to the clinical presence of AI. Further research is necessary to examine larger number of patients and genes related to AI.

The aim of this study was to investigate the occurrence of mutations in the amelogenin gene (AMELX) in patients with cleft lip and palate (CLP) and enamel defects (ED). A total of 165 patients were divided into four groups: with CLP and ED (n=46), with CLP and without ED (n = 34), without CLP and with ED (n = 34), and without CLP or ED (n = 51). Genomic DNA was extracted from saliva followed by conducting a Polymerase Chain Reaction and direct DNA sequencing of exons 2 through 7 of AMELX. Mutations were found in 30% (n = 14), 35% (n = 12), 11% (n = 4) and 13% (n = 7) of the subjects from groups 1, 2, 3 and 4, respectively. Thirty seven mutations were detected and distributed throughout exons 2 (1 mutation – 2.7%), 6 (30 mutations – 81.08%) and 7 (6 mutations – 16.22%) of AMELX. No mutations were found in exons 3, 4 or 5. Of the 30 mutations found in exon 6, 43.34% (n = 13), 23.33% (n = 7), 13.33% (n = 4) and 20% (n = 6) were found in groups 1, 2, 3 and 4, respectively. c.261 C > T (rs2106416), a silent mutation, was detected in 26 subjects, and found more significantly (p = 0.003) in patients with CLP (groups 1 and 2 – 23.75%), compared with those without CLP (groups 3 and 4 – 8.23%). In the groups without ED, this silent mutation was also found more significantly (p = 0.032) among subjects with CLP (17.65% in group 2), compared with those without CLP (7.8% in group 4). In conclusion, this study suggested that AMELX may be a candidate gene for cleft lip and palate.

Aim Current literature on chronic periodontitis genetics encompasses numerous single nucleotide polymorphisms-focused case–control studies with inconsistent and controversial results, which typically disregards the exposure concept embraced by case–control definition. Herein, we propose a case–control design reappraisal by clear phenotype selection, where chronic gingivitis represents a genetically resistant phenotype/genotype opposing the susceptible cohort. Material and methods The hypothesis was tested in healthy, chronic periodontitis and gingivitis groups through Real-time PCR-based allelic discrimination of classic variants IL1B-3954, IL6-174, TNFA-308, IL10-592 and TLR4-299. Results Observed allele/genotype frequencies characterize the healthy group with an intermediate genetic profile between periodontitis and gingivitis cohorts. When comparing genotype/allele frequencies in periodontitis versus healthy and periodontitis versus gingivitis scenarios, the number of positive associations (2–4) and the degree of association (p and odds ratio values) were significantly increased by the new approach proposed (periodontitis versus gingivitis), suggesting the association of IL1B-3954, TNFA-308, IL10-592 and TLR4-299 with periodontitis risk. Power study was also significantly improved by the new study design proposed when compared to the traditional approach. Conclusions The data presented herein support the use of new case–control study design based on the case–control definition and clear resistance/susceptibility phenotypes selection, which can significantly impact the study power and odds of identification of genetic factors involved in PD.

Cleft lip and palate is the most common among craniofacial malformations and causes several esthetic and functional implications that require rehabilitation. This paper aims to generally describe the several aspects related to this complex pathology and the treatment protocol used by the Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC-USP) along 40 years of experience in the treatment of individuals with cleft lip and palate.

INTRODUCTION: The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Most investigations available on the Apert syndrome address the genetic aspect or surgical management, with little emphasis on the oral aspects. OBJECTIVE: to investigate the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and soft tissue alterations, in subjects with Apert syndrome. MATERIALS AND METHODS: clinical and radiographic examination of nine patients with Apert syndrome, aged 6 to 15 years, not previously submitted to orthodontic or orthognathic treatment. RESULTS: dental anomalies were present in all patients, with one to eight anomalies per individual. The most frequent anomalies were tooth agenesis, mainly affecting maxillary canines, and enamel opacities (44.4% for both). Ectopic eruption of maxillary first molars was found in 33.3% of patients; lateral palatal swellings were observed in 88.8% of patients. CONCLUSIONS: The occurrence of typical lateral palatal swellings agrees with the literature. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the syndrome. INTRODUÇÃO: A síndrome de Apert é um distúrbio raro de herança autossômica dominante causado por mutações no lócus 10q26 do gene FGFR2; pacientes com esta síndrome apresentam sindactilia severa, exoftalmia, hiperteleorbitismo e hipoplasia da face média com má oclusão de Classe III, além de alterações sistêmicas. A maior parte dos estudos disponíveis sobre a síndrome de Apert aborda o aspecto genético ou manejo cirúrgico, com pouca ênfase nos aspectos bucais. OBJETIVO: investigar os achados bucais, incluindo anomalias dentárias, irrupção ectópica dos primeiros molares permanentes superiores e alterações de tecido mole, em indivíduos com síndrome de Apert. MATERIAIS E MÉTODOS: exame clínico e radiográfico de nove pacientes com síndrome de Apert, de 6 a 15 anos de idade, não anteriormente submetidos a tratamento ortodôntico ou ortognático. RESULTADOS: anomalias dentárias estavam presentes em todos os pacientes, com uma a oito anomalias por indivíduo. As anomalias mais freqüentes foram agenesia dentária, principalmente afetando os caninos superiores, e opacidades de esmalte (44,4% para ambos). Foi observada irrupção ectópica dos primeiros molares superiores em 33,3% dos pacientes; foram observados aumentos volumétricos laterais da mucosa palatina em 88,8% dos pacientes. CONCLUSÕES: a ocorrência de aumentos volumétricos laterais típicos da mucosa palatina concorda com a literatura. A alta prevalência de anomalias dentárias e irrupção ectópica pode sugerir uma possível relação etiológica com a síndrome.

There is a lack of data on the oral health status of individuals with craniofacial syndromes. A group of 15 children with Treacher Collins syndrome, aged 5 to 15 years old, was examined and evaluated for plaque, caries and gingival problems. The ability of the patients to clean their teeth was also investigated. A high plaque index and poor efficacy of tooth-brushing was recorded. The caries and gingival indexes were not proportionally as high as the plaque accumulation. There was no association between the gingival index and presence of mouth breathing. There was predominance of the D component in both the dmft and DMFT indexes; this was associated with a need for restorative dental treatment in 60% of the patients, which indicated the need for dental care for these patients. Caretakers should be informed of the importance of oral health and oral hygiene and encouraged to take responsibility for the oral care of the children living at home.

A technique for the restoration of carious primary maxillary incisors using indirect resin composite crowns and intracanal reinforcement fiber is described. Endodontic treatment was previously performed on each tooth. The advantages of using an intracanal reinforcement fiber include resin composite crown reinforcement, translucency, and relative manipulation facility. In addition, the use of indirect resin composite crowns provides good shape and esthetics, as well as reduced chair time for the child. The technique is illustrated in a case report in which indirect resin composite crowns and an intracanal reinforcement fiber are placed in a 3-year-old girl.

Objective To investigate the pattern of breast-feeding and sugar intake among babies with cleft lip and palate. Participants Caretakers of 200 babies with cleft lip and palate enrolled at the Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil. Results A low prevalence of breast-feeding was found. The most reported reason was the sucking inability of the baby. Complete cleft lip and palate was the primary cause affecting sucking. The first contact with sugar occurred mainly through the baby bottle with milk during the first month of life. For nutritional supplement, the children were given sugar and fruit juices in the bottle. Conclusions It was observed that dietary habits in babies with cleft lip and palate are more risky. This highlights the role played by early education and constant oral hygiene follow-up for prevention in these patients.

Objective The objective of this retrospective study was to verify whether the root development of the permanent lateral incisor on the cleft side was delayed, compared with its contralateral tooth in subjects with complete unilateral cleft lip and palate. Setting Craniofacial Anomalies Rehabilitation Hospital (HRAC)-University of São Paulo-Bauru, Brazil. Patients A sample of 98 panoramic radiographs of HRAC patients with complete unilateral cleft lip and palate was selected, regardless of sex and race. Main outcome Measure Panoramic radiographs were analyzed and the root development stage of the cleft-side permanent lateral incisor was compared with its contralateral tooth. Results Overall, the permanent cleft-side lateral incisor was significantly delayed in root development in relation to the noncleft side contralateral tooth (p < .05). However, no significant differences were observed between boys and girls. Conclusions Root development of the permanent cleft-side lateral incisor was delayed, compared with its contralateral tooth. The cleft itself may play an important role in this delay because the results from boys and girls were very similar.

Objective The objective of this study was to determine the prevalence of ectopic eruption of intranasal teeth. Design This was a retrospective study, where records of children with repaired cleft lip and palate were analyzed. Setting The study was conducted at a large craniofacial center, the Hospital for Rehabilitation of Craniofacial Anomalies, USP, Bauru, São Paulo, Brazil. Subjects The sample consisted of 815 records from patients with bilateral cleft lip and palate (BCLP) and 1495 records from patients with unilateral cleft lip and palate (UCLP). The age of the subjects was 5 to 10 years old and the groups included both males and females. Results The results showed that 0.61% of the children with BCLP and 0.40% of those with UCLP had an intranasal tooth. The prevalence of an intranasal tooth for the whole group was 0.48%, and it appeared to be more common in females.

The aim of this article is to present the pediatric dentistry and orthodontic treatment protocol of rehabilitation of cleft lip and palate patients performed at the Hospital for Rehabilitation of Craniofacial Anomalies - University of São Paulo (HRAC-USP). Pediatric dentistry provides oral health information and should be able to follow the child with cleft lip and palate since the first months of life until establishment of the mixed dentition, craniofacial growth and dentition development. Orthodontic intervention starts in the mixed dentition, at 8-9 years of age, for preparing the maxillary arch for secondary bone graft procedure (SBGP). At this stage, rapid maxillary expansion is performed and a fixed palatal retainer is delivered before SBGP. When the permanent dentition is completed, comprehensive orthodontic treatment is initiated aiming tooth alignment and space closure. Maxillary permanent canines are commonly moved mesially in order to substitute absent maxillary lateral incisors. Patients with complete cleft lip and palate and poor midface growth will require orthognatic surgery for reaching adequate anteroposterior interarch relationship and good facial esthetics.