Systemic and oral abnormalities in Kabuki syndrome: a case series.

OBJECTIVE: This study analyzed the systemic and oral abnormalities in individuals with Kabuki syndrome (KS) that might be investigated to enhance the early diagnosis and treatment by a multidisciplinary team, minimizing the consequences to the individual's health. STUDY DESIGN: Clinical examination was conducted on 15 individuals to investigate orodental alterations such as tooth abnormalities and cleft lip and/or palate, and the patient records were also reviewed to investigate systemic diseases such as cardiopathies, infectious and immunologic diseases, nephropathies, and delayed neuropsychomotor development. RESULTS: All individuals with KS presented cleft lip and/or palate, 11 (73.34%) tooth abnormalities, 5 (33.34%) congenital cardiopathies, 12 (80%) infectious or immunologic diseases, 1 (6.67%) nephropathy, and 14 (93.34%) had an intellectual disability. CONCLUSION: Individuals with KS often have dental anomalies such as hypodontia, cleft or palate, and systemic disorders such as congenital heart disease and infectious diseases. Intellectual disability is present in most cases. These alterations should be investigated as early as possible to prevent the increase in morbidity in these individuals.

ENAM gene polymorphisms associated with dental anomalies in individuals with cleft lip and palate

Aim: This study aimed to investigate the occurrence of enamelin gene (ENAM) single nucleotide polymorphisms (SNP) and ENAM polymorphism association with dental anomalies (DA) in individuals with unilateral or bilateral cleft lip and palate (CLP). Methods: Saliva samples were collected from 147 individuals aged between 6 and 15 years-old, both genders, and divided into 4 groups: Group 1 (G1) - CLP and DA; Group 2 (G2) - CLP without DA; Group 3 (G3) - without CLP with DA; Group 4 (G4) - without CLP and DA. The genomic DNA was extracted from saliva samples and the following ENAM SNPs markers were genotyped: rs3796703, rs3796704, rs3796705, rs7671281, rs2609428, and rs35951442. Fisher exact and Pearson's Chi-square tests statistically analyzed the results (α=5%). Results: Individuals without CLP with DA (Group 3 - 19.2%) showed statistically higher prevalence of SNP rs2609428 heterozygotes (p=0.006) than individuals with CLP and DA (Group 1 - 0%). Individuals without CLP (10%) exhibited statistically higher prevalence of mutated heterozygotes/homozygous (p=0.028) than in individuals with CLP (1.3%). Conclusion: SNP rs2609428 marker of ENAM gene may be associated with dental anomalies in individuals without cleft lip and palate

Growth Outcomes Audit for Unilateral Cleft Lip and Palate (UCLP) After 2-stage Palate Repair.

PURPOSE: To assess the impact of 1 and 2-stage palatoplasty protocol on the dental arch relationships in unilateral cleft lip and palate (UCLP) in a single center. METHODS: Our study consisted of 349 individuals divided into 2 groups according to the palatoplasty protocol. Two-stage group comprised 169 subjects with UCLP (mean age: 6.9 y, 110 male and 59 female) who underwent lip, nasal ala, and anterior palate repair with vomer flap from 3 to 6 months (first surgery stage). Soft palate repair occurred from 12 to 18 months (second surgery stage). The one-stage group comprised 180 subjects with UCLP (mean age: 7.2 y, 108 male and 72 female) who underwent 1-stage palatoplasty. Dental models were evaluated by 3 experienced orthodontists applying Goslon Yardstick and the 5-year-old index (FYOI). The influence of the palatoplasty technique and surgeon factor on the interarch relationship was evaluated. The weighted Kappa was used to assess intraexaminer and interexaminer agreements for comparisons of dental arch relationships. Intergroup comparisons were conducted using the χ 2 test ( P <0.05). RESULTS: The intraexaminer reliability was very good (0.81 to 0.98) and interexaminer reliability varied from satisfactory to very good (0.56 to 0.83). The mean occlusal index of the 2-stage and 1-stage groups was 2.77 and 3.03, respectively. The variability of the mean index between surgeons varied from 2.38 to 3.2 in the 2-stage group and 2.91 to 3.2 in the 1-stage group. There were significant differences in the frequency of Goslon 5 index ( P =0.002) between groups, with the 2-stage group presenting less cases (1.18%) than the group 1-stage (11.11%). CONCLUSION: The interarch relationship was similar for both palate repair protocols. Two-stage palatoplasty showed a decreased prevalence of Goslon index 5.

Outcomes of permanent canines on the cleft side after secondary alveolar grafting using different materials in complete unilateral cleft lip and palate.

The prevalence of impaction of the permanent canine on the cleft side (PCCS) ranges from 12-35% after alveolar bone grafting (ABG). PCCSs usually develop above other permanent teeth in the alveolar process, gradually becoming vertical until they reach the occlusal plane. The type of cleft, hypodontia of lateral incisor on the cleft side, slower PCCS root development, and genetic factors are predictors of impaction and/or its ectopic eruption. To compare the behavior of PCCS in individuals with complete unilateral cleft lip and palate (UCLP) subjected to secondary alveolar grafting (SAG) with different materials. This retrospective longitudinal study analyzed 120 individuals undergoing SAG with iliac crest bone, rhBMP-2, and mandibular symphysis. The individuals were selected at a single center and equally divided into three groups. Panoramic radiographs were analyzed by the Dolphin Imaging 11.95 software to measure PCCS angulation and PCCS height from the occlusal plane at two different timepoints. No statistical significance was found between grafting materials (P=0.416). At T1, the PCCS height from the occlusal plane was greater for rhBMP-2 and mandibular symphysis compared to iliac crest bone. The lateral incisor on the cleft side was not related to success or lack of eruption of PCCS (P=0.870). Impaction rates of PCCS were similar for the materials studied. Absence of the lateral incisor on the cleft side did not prevent spontaneous eruption of PCCSs.

Bone Substitutes Graft for Regeneration of the Anterior Maxillary Alveolar Process: A Systematic Review.

The objective of this systematic review was to identify the available scientific evidence on bone substitutes (BSs) compared with autogenous bone grafts (ABGs) for regeneration of horizontal bone resorption in the anterior maxillary alveolar process, aiming at rehabilitation with endosseous implants. This review was performed according to the PRISMA guidelines (2020) and registered in the database PROSPERO (CRD: 42017070574). The databases searched were PUBMED/MEDLINE, EMBASE, SCOPUS, SCIENCE DIRECT, WEB OF SCIENCE, and CENTRAL COCHRANE, in the English language. The Australian National Health and Medical Research Council (NHMRC) and Cochrane Risk of Bias Tool were used to assess the study's quality and risk of bias. A total of 524 papers were found. After the selection process, 6 studies were selected for review. A total of 182 patients were followed for a period of 6 to 48 months. The mean age of patients was 46.46 years, and 152 implants were installed in the anterior region. Two studies achieved a reduced graft and implant failure rate, whereas the remaining 4 studies had no losses. It may be concluded that the use of ABGs and some BSs is a viable alternative for the rehabilitation with implants in individuals with anterior horizontal bone loss. However, additional randomized controlled trials are warranted due to the limited number of papers.

Customized Tray for Impression Taking in Children With Cleft Lip and Palate.

The assessment of rehabilitation outcomes requires a patient documentation protocol, including records obtained at standardized ages, to compare different types of surgeries, their effects, as well as between different rehabilitation centers. The aim of this paper was to present proper trays for babies with different types of cleft lip and palate, which are used in the outpatient routine at Hospital of Rehabilitation of Craniofacial Anomalies/USP (HRAC/USP). The customized trays are made with self-curing acrylic resin. The tray must have suitable depth to copy the buccal sulcus, and wax is usually applied to contour the tray edge, and the adjustment of the tray to the fornix, making the tray specific for each child. The impression precludes the utilization of dental casts for diagnosis, treatment plan, and research measurements. In the clinical practice at HRAC-USP, it was observed that customized trays increased the quality of impression, accurately reproducing anatomical features of dental arches of babies with oral clefts.

Does the rehabilitation treatment predispose the patient with cleft to endodontic treatment?

Aim: to verify the relation between endodontic treatment of teeth adjacent to the cleft area and the rehabilitation of patients with unilateral cleft lip and palate, at the Hospital for Rehabilitation of Craniofacial Anomalies. Methods: the present split-mouth study was composed of 406 individuals with complete unilateral cleft lip and palate who had completed the rehabilitation process in a single tertiary cleft center (55.9% males). The information was collected from the dental history on the patients' records and radiographs. The frequency of endodontic treatment in the upper incisors and canines was calculated for the cleft and non-cleft sides. The comparison between sides was performed by the chi-square test (p <0.05). Results: endodontic treatment was more frequent in teeth adjacent to the cleft than in contralateral teeth. The frequency of endodontic treatment in at least one tooth adjacent to the cleft was 18.97%, and 11.6% on the contralateral side. It was observed that endodontic treatment was necessary in 63.5% of patients who had been submitted to orthodontic treatment, 42.4% of those rehabilitated with fixed partial dentures and 12.0% of patients who underwent dental reshaping of teeth adjacent to the cleft. The treatments performed included vital pulp therapy (46.1%), non-vital pulp therapy (46.8%) and endodontic retreatment (7.1%). Conclusion: in individuals with complete cleft lip and palate, teeth close to the bone defect area and used for rehabilitation treatment presented greater need of endodontic intervention

Outcomes of permanent canines on the cleft side after secondary alveolar grafting using different materials in complete unilateral cleft lip and palate

Abstract The prevalence of impaction of the permanent canine on the cleft side (PCCS) ranges from 12-35% after alveolar bone grafting (ABG). PCCSs usually develop above other permanent teeth in the alveolar process, gradually becoming vertical until they reach the occlusal plane. The type of cleft, hypodontia of lateral incisor on the cleft side, slower PCCS root development, and genetic factors are predictors of impaction and/or its ectopic eruption. Objective: To compare the behavior of PCCS in individuals with complete unilateral cleft lip and palate (UCLP) subjected to secondary alveolar grafting (SAG) with different materials. Methodology: This retrospective longitudinal study analyzed 120 individuals undergoing SAG with iliac crest bone, rhBMP-2, and mandibular symphysis. The individuals were selected at a single center and equally divided into three groups. Panoramic radiographs were analyzed by the Dolphin Imaging 11.95 software to measure PCCS angulation and PCCS height from the occlusal plane at two different timepoints. Results: No statistical significance was found between grafting materials (P=0.416). At T1, the PCCS height from the occlusal plane was greater for rhBMP-2 and mandibular symphysis compared to iliac crest bone. The lateral incisor on the cleft side was not related to success or lack of eruption of PCCS (P=0.870). Conclusion: Impaction rates of PCCS were similar for the materials studied. Absence of the lateral incisor on the cleft side did not prevent spontaneous eruption of PCCSs.

Does Infant Orthopedics and Neonate Lip Surgery Influence the Occlusal Relationship in Patients With Unilateral Cleft Lip and Palate (UCLP)?

OBJECTIVE: To compare occlusal relationship in patients undergoing neonate versus conventional lip surgery (LS) with and without infant orthopedics (IO) by assessment of dental arch relationship in individuals with complete unilateral cleft lip and palate. MATERIAL AND METHODS: Three groups treated by different protocols; Group I: neonate LS (1-15 days) + IO and palatoplasty (13-31 months); Group II: LS (3-12 months) + IO and palatoplasty (15-35 months); and Group III: LS (3-6 months) without IO and palatoplasty (12-18 months). The 112 intraoral photographs of individuals of all groups, obtained between 6 and 12 years of age, were assessed by the occlusal index for intraoral photograph rating. The groups were compared by the χ2 test. The correlation between surgical timing and the scores was tested by the Spearman test (P < .05). RESULTS: Group I presented the highest percentage of score 5, group II exhibited highest percentage of score 1, and group III presented the lowest percentage of score 5 according to the χ2 test (P = .029). The Spearman correlation test revealed statistically significant difference between timing of LS and the occlusal index. The earlier the surgical timing, the higher the occlusal index (P = .019). CONCLUSIONS: Infant orthopedics has demonstrated the possibility of postponing primary plastic surgeries. Patients submitted to late lip and palate repair had the best prognosis, while patients undergoing lip repair from 1 to 15 days of life, even operating the palate later, had the worst prognosis. Neonate LS negatively influenced the occlusal relationships.

Prevalence of cleft lip and palate in Bauru, SP ­ concordance among registries of HRAC/USP, DNV and SINASC / Prevalência da fissura labiopalatina em Bauru, SP ­ concordância entre os registros do HRAC/USP, DNV e SINASC

Objective: Congenital defects, including cleft lip and palate, increase the morbidity and mortality in the affected population. This study aimed to determine the prevalence of cleft lip and palate in the city of Bauru, Brazil, by evaluation of registry in the Brazilian Livebirth Certificate (DNV) and the Information System on Livebirths (SINASC), and analyzed the concordance of diagnosis compared with registries of the Hospital for Rehabilitation of Craniofacial Anomalies (HRAC/USP), located in the same city. Material and Methods: This retrospective observational study comprised analysis of all DNVs and identification of individuals with clefts born and living in Bauru, comparing with data from HRAC/USP. The prevalence was calculated by dividing the number of children born with clefts in the study period by the total number of livebirths registered. The reporting of different types of clefts was compared by the chi-square test. Results: Overall, 50,898 DNV were evaluated, among which there were 25 reported cases of cleft lip and/or palate. In the same period, HRAC/USP registered 77 cases born in Bauru, representing 67.5% of underreporting of the occurrence of clefts. Cleft palate was the most prevalent (34.9%), followed by cleft lip and palate (31.7%) and cleft lip (30.2%), mostly affecting males (58.5%). The reporting of cleft palate (16.12%) was lower compared to cleft lip (43.75%) and cleft lip and palate (54.54%). Conclusion: The study revealed predominance of cleft palate, with significant underreporting of clefts in the public health system, especially for cleft palate as compared to cleft lip and cleft lip and palate (AU)

Objetivo: Os defeitos congênitos, incluindo fenda labial e palatina, aumentam a morbidade e mortalidade na população afetada. Este estudo teve como objetivo determinar a prevalência de fissura labiopalatina na cidade de Bauru, Brasil, por meio da avaliação do registro na Certidão de Nascimento de Vivos (DNV) e no Sistema de Informação de Nascidos Vivos (SINASC), e analisar a concordância do diagnóstico em comparação com registros do Hospital de Reabilitação de Anomalias Craniofaciais (HRAC / USP), localizado na mesma cidade. Material e Métodos: Este estudo observacional retrospectivo compreendeu a análise de todas as DNVs e a identificação dos indivíduos com fissuras nascidos e residentes em Bauru, comparando com os dados do HRAC / USP. A prevalência foi calculada dividindo-se o número de filhos nascidos com fissura no período do estudo pelo total de nascidos vivos registrados. O relato de diferentes tipos de fissuras foi comparado pelo teste do qui-quadrado. Resultados: No geral, foram avaliadas 50.898 DNV, entre as quais houve 25 casos notificados de fenda labial e / ou palatina. No mesmo período, o HRAC / USP registrou 77 casos nascidos em Bauru, representando 67,5% de subnotificação da ocorrência de fissuras. A fenda palatina foi a mais prevalente (34,9%), seguida da fenda labiopalatina (31,7%) e fenda labial (30,2%), ocorrendo principalmente no sexo masculino (58,5%). O relato de fissura palatina (16,12%) foi menor em comparação com fissura labial (43,75%) e fissura labiopalatina (54,54%). Conclusão: O estudo revelou predomínio de fissura palatina, com subnotificação significativa de fissuras no sistema público de saúde, principalmente para fenda palatina em relação à fenda labial e labiopalatina. (AU)

Hyoid Bone Position and Head Posture in Patients With Richieri-Costa Pereira Syndrome (EIF4A3 Mutations).

Robin sequence with cleft mandible and limb anomalies, known as Richieri-Costa-Pereira syndrome (RCPS), is an autosomal recessive acrofacial dysostosis characterized by mandibular cleft and other craniofacial anomalies and respiratory complications. The aim of this cross-sectional study was to describe the hyoid and head posture of 9 individuals with RCPS using cephalometric measurements and provide a discussion about its implications in obstructive sleep apnea syndrome (OSAS). The study was conducted on lateral cephalograms of patients with RCPS and 9 selected age-matched controls in tertiary cleft center in Brazil. The cephalograms were digitized and analyzed on a software to obtain the vertical and horizontal hyoid position, its relationship with the mandible and the relation of the cranial base and postvertebral line. The t test was used for analysis of means and Levene's test for equality of variances.Cephalometric measurements H-S (vertical distance between hyoid bone and sella) (Supplemental Digital Content, Figure 1, http://links.lww.com/SCS/B247) and H-C4lp (horizontal position of the hyoid in relation to the post-pharyngeal space) showed statistically significant difference compared to controls (P < 0.05). Therefore, the hyoid bone was more inferiorly and posteriorly positioned in the study group compared with the control group. The vertebrae measurements did not present differences compared to controls. The described position of hyoid bone could be involved in the severe OSAS of RCPS patients.

Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.

CONTEXT: The reproductive axis is controlled by a network of gonadotropin-releasing hormone (GnRH) neurons born in the primitive nose that migrate to the hypothalamus alongside axons of the olfactory system. The observation that congenital anosmia (inability to smell) is often associated with GnRH deficiency in humans led to the prevailing view that GnRH neurons depend on olfactory structures to reach the brain, but this hypothesis has not been confirmed. OBJECTIVE: The objective of this work is to determine the potential for normal reproductive function in the setting of completely absent internal and external olfactory structures. METHODS: We conducted comprehensive phenotyping studies in 11 patients with congenital arhinia. These studies were augmented by review of medical records and study questionnaires in another 40 international patients. RESULTS: All male patients demonstrated clinical and/or biochemical signs of GnRH deficiency, and the 5 men studied in person had no luteinizing hormone (LH) pulses, suggesting absent GnRH activity. The 6 women studied in person also had apulsatile LH profiles, yet 3 had spontaneous breast development and 2 women (studied from afar) had normal breast development and menstrual cycles, suggesting a fully intact reproductive axis. Administration of pulsatile GnRH to 2 GnRH-deficient patients revealed normal pituitary responsiveness but gonadal failure in the male patient. CONCLUSIONS: Patients with arhinia teach us that the GnRH neuron, a key gatekeeper of the reproductive axis, is associated with but may not depend on olfactory structures for normal migration and function, and more broadly, illustrate the power of extreme human phenotypes in answering fundamental questions about human embryology.

Craniofacial Morphology in Patients With Opitz G/BBB Syndrome.

OBJECTIVE: To compare the cephalometric characteristics of patients with and without Opitz G/BBB syndrome type I. DESIGN: Cross-sectional, case-control study. SETTING: Tertiary cleft center in Brazil. PARTICIPANTS: Eighteen individuals with Opitz G/BBB syndrome with complete bilateral cleft lip and palate (BCLP), compared to 18 individuals with nonsyndromic complete cleft lip and palate and 18 individuals without malformations, matched for gender and age. INTERVENTIONS: Pretreatment lateral cephalograms of all patients were manually traced and digitized for achievement of linear and angular measurements. MAIN OUTCOME MEASURES: Analysis of variance or Kruskal-Wallis followed by Tukey tests were used for intergroup comparisons at a significance level of P < .05. RESULTS: Individuals with Opitz G/BBB syndrome exhibited alterations in SNGn, P-Co, and N'-Pr/Po-Or that were not attributable to BCLP. Co-Go, Sella-Nasion-Supramentale, ANB (maxillo-mandibular relationship), and anterior nasal spine-posterior nasal spine (ANS-PNS)/U1A-U1T were significantly different in both G/BBB and BCLP groups compared to control, but not different between G/BBB and BCLP groups. Anterior nasal spine-posterior nasal spine/Go-Gn, ANS-PNS, V-Upper pharyngeal wall, and U-lower pharyngeal wall were different in nonsyndromic BLCP compared to nonsyndromic controls and Opitz G/BBB group. CONCLUSION: Patients with Opitz G/BBB syndrome exhibited some unique cephalometric alterations compared to patients with nonsyndromic complete BCLP and controls.

Relação entre reabsorções dentárias e enxerto alveolar em dentes adjacentes à área da fissura / Relationship between root resorption and alveolar graft in teeth adjacent to the cleft lip and palate area

Objetivo: avaliar, radiograficamente, a prevalência, extensão e severidade da reabsorção dentária em dentes adjacentes à área de fissura após enxerto ósseo alveolar. Métodos: radiografias de 200 indivíduos com fissura unilateral e bilateral, alveolar e palatina, foram analisadas para se investigar a presença de reabsorção dentária relacionada com o enxerto ósseo. No total, 1.315 radiografias foram analisadas (periapical, oclusal e radiografias panorâmicas), obtidas a partir de 200 indivíduos com fissura labiopalatina unilateral e bilateral completa ubmetidos a cirurgia de enxerto, disponíveis a partir dos arquivos da Seção de Radiologia do HRAC-USP. Resultados: entre os 200 indivíduos, 33 tinham reabsorções dentárias externas. Dessas, 15 estavam presentes nas radiografias pré-operatórias e 18 só depois do enxerto ósseo. No geral, 30 reabsorções localizaram- se no terço apical da raiz e 3 no terço cervical; o incisivo central esquerdo foi o mais afetado. Não foram observadas reabsorções dentárias no terço médio da raiz e nenhuma reabsorção afetou mais de um terço. Não existiu diferença estatisticamente significativa entre a idade do paciente durante a cirurgia de enxerto ósseo e a presença de reabsorção dentária externa. Conclusões: a prevalência da reabsorção dentária em dentes adjacentes à área da fissura em indivíduos submetidos a enxerto ósseo foi baixa (16,5%). O terço apical da raiz foi o local mais frequente de reabsorção radicular externa, e não houve reabsorções afetando mais de um terço da raiz. (AU)

Outcomes of Alveolar Graft With Rhbmp-2 in CLP: Influence of Cleft Type and Width, Canine Eruption, and Surgeon.

OBJECTIVE: To evaluate the influence of cleft type and width, canine eruption stage, and surgeon on the outcomes of alveolar graft with rhBMP-2. DESIGN: Cross-sectional. SETTING: Tertiary craniofacial center. PARTICIPANTS: Ninety individuals submitted to alveolar graft in late mixed or early permanent dentition. INTERVENTIONS: The 90 individuals (mean age: 16.8 years) were submitted to alveolar graft with rhBMP-2. Periapical radiographs were obtained before and 6 months after surgery. Surgeries were performed by 4 experienced maxillofacial surgeons. The alveolar grafts were assigned as success or failure by 3 blinded raters based on the modified Bergland and Chelsea scales. Permanent canines adjacent to the defect were assigned as erupted and not erupted. The greatest cleft width was measured on preoperative periapical radiographs. MAIN OUTCOME MEASURES: The influence of 4 independent variables (cleft type, cleft width, canine eruption phase, and surgeon) on the outcome of alveolar graft was analyzed by multivariate logistic regression ( P < .05). RESULTS: All independent variables presented significant influence on alveolar graft outcome. The subgroup of unerupted maxillary canines demonstrated better outcomes than erupted canines ( P = .001). The group with cleft lip and alveolus (CL/A) demonstrated better outcomes than complete cleft lip and palate (CLP; P < .001). The greater the alveolar cleft width, the less favorable were the graft outcomes ( P = .027). The surgeon also had a significant influence on the surgery success ( P = .003 and .001). CONCLUSION: The type and width of CLP, the eruption of permanent canines, and the surgeon influenced the outcome of alveolar graft surgeries performed with rhBMP-2.

Male individuals with Robin Sequence: emerging significant association with ABO and RhD blood group phenotypes.

BACKGROUND: This study investigated the association of Robin Sequence with ABO and RhD blood group phenotypes. METHODS: A retrospective cross-sectional study was performed of a cohort of Robin Sequence patients of the Hospital de Reabilitação de Anomalias Craniofaciais - Universidade de São Paulo (USP), Brazil. The study group was composed of 339 individuals of both genders with Robin Sequence referred for specific treatment. A control group was composed of 1780 individuals without syndromes. The groups were compared using the Pearson' chi-square test (χ 2) with statistical significance being defined for an alpha error of 5% (p-value < 0.05). RESULTS: A comparison of gender found a significant difference for the AB phenotype between groups (p-value = 0.007). Comparing blood type by gender there was no significant difference within the same group (p-value = 0.117 and 0.388 respectively, for Robin Sequence and the control group). When comparing the AB blood type between groups, there was no difference for females (p-value = 0.577), but there was a significant difference for males (p-value = 0.0029). CONCLUSIONS: This study showed that the population with Robin Sequence had different patterns related to gender concerning the phenotypic distribution of ABO and RhD blood group phenotypes. Robin Sequence is more common among females. The AB phenotype was significantly higher in males with Robin Sequence than in males of the Control Group. The prevalence of the RhD-negative phenotype is higher in individuals with Robin Sequence. This result suggests a possible association of ABO and RhD phenotypes with Robin Sequence that should be better investigated by molecular studies, as it deserves greater attention.

Male individuals with Robin Sequence: emerging significant association with ABO and RhD blood group phenotypes

ABSTRACT Background: This study investigated the association of Robin Sequence with ABO and RhD blood group phenotypes. Methods: A retrospective cross-sectional study was performed of a cohort of Robin Sequence patients of the Hospital de Reabilitação de Anomalias Craniofaciais - Universidade de São Paulo (USP), Brazil. The study group was composed of 339 individuals of both genders with Robin Sequence referred for specific treatment. A control group was composed of 1780 individuals without syndromes. The groups were compared using the Pearson' chi-square test (χ 2) with statistical significance being defined for an alpha error of 5% (p-value < 0.05). Results: A comparison of gender found a significant difference for the AB phenotype between groups (p-value = 0.007). Comparing blood type by gender there was no significant difference within the same group (p-value = 0.117 and 0.388 respectively, for Robin Sequence and the control group). When comparing the AB blood type between groups, there was no difference for females (p-value = 0.577), but there was a significant difference for males (p-value = 0.0029). Conclusions: This study showed that the population with Robin Sequence had different patterns related to gender concerning the phenotypic distribution of ABO and RhD blood group phenotypes. Robin Sequence is more common among females. The AB phenotype was significantly higher in males with Robin Sequence than in males of the Control Group. The prevalence of the RhD-negative phenotype is higher in individuals with Robin Sequence. This result suggests a possible association of ABO and RhD phenotypes with Robin Sequence that should be better investigated by molecular studies, as it deserves greater attention.

Comparative Analysis of the Efficacy of Dental Plaque Removal Between Manual and Powered Toothbrushes in Individuals With Syndactyly.

OBJECTIVE: To compare the efficacy of dental plaque removal between manual and powered toothbrushes in individuals with syndactyly. MATERIAL AND METHODS: Seventeen patients with Apert syndrome aged 11 to 30 years. The efficacy of toothbrushing was evaluated by the O'Leary plaque index at 2 periods: initial (before toothbrushing) and final (immediately after toothbrushing), using manual toothbrush (Colgate Twister) and powered toothbrush (Colgate Actibrush). Means were compared by the ANOVA test at a significance level of 5%. RESULTS: The reduction in the plaque index was different for each type of toothbrush (interaction factor between manual and powered toothbrushes and initial and final periods, P = 0.026). The powered toothbrush provided greater reduction of dental plaque than the manual toothbrush. CONCLUSION: In individuals with syndactyly, both manual and powered toothbrushes allowed significant plaque reduction on tooth surfaces; however, the powered toothbrush exhibited greater efficacy of plaque removal compared with the manual toothbrush.

Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome.

The Richieri-Costa-Pereira syndrome (RCPS) is an autosomal-recessive acrofacial dysostosis caused by mutations in EIF4A3, characterized by mandibular cleft comprising other craniofacial anomalies and limb defects such as cleft palate/Robin Sequence, microstomia, absence of mandibular central incisors, minor ear anomalies, clubfeet and first and 5 ray defects. The findings from this study are useful for better understanding the morphological consequences of disorders of EIF4A3, and having a better picture of the anatomic characteristics of the syndrome for a better therapeutic planning. Twenty-four angular and linear variables were measured to assess anteroposterior and vertical (superior-inferior) position of the cranial base, maxilla, mandible, and facial profile. The cephalometric radiographic analysis was performed on 9 individuals with RCPS, obtained at a mean age of 10.3 years, and compared with randomly selected age-matched 9 controls, without clefts and with well-balanced faces, with mean age of 10.6 years (both groups range 8.1 to 13.7 years). t test was used for analysis of means and Levene test for equality of variances. The syndrome group presented severe mandibular hypoplasia and retrognathism (P = 0.009, P = 0.001), greater facial convexity (N'PnPog and N'SnPog, P < 0.05) in syndrome group compared with the control group (P = 0.003, P = 0.004). In conclusion, in the RCPS group, most craniofacial defects affect the lower facial third, considering the severely affected mandible.

The maxillary lateral incisor in the rehabilitation of cleft lip and palate.

Objective This study analyzed the maintenance of lateral incisors in the dental rehabilitation of individuals with cleft lip and palate. Material and Methods The study was conducted on a tertiary craniofacial center and comprised retrospective analysis of panoramic and periapical radiographs of Caucasoid individuals with non-syndromic complete unilateral cleft lip and palate, analyzing all radiographs available on the records of each individual, from the first to the last up to 12 years of age. Overall, 2,826 records were reviewed to achieve a sample of 1,000 individuals. Among these, 487 individuals presented the permanent lateral incisors on both cleft and non-cleft sides, which were included in this study. Results The results were evaluated in percentages and by descriptive statistics. The association between maintenance of the lateral incisor and timing of alveolar bone graft were analyzed by the t test. Among the 487 individuals, 265 had not completed treatment, 62 presented insufficient information, and 44 concluded the treatment elsewhere. Among the remaining 116 individuals, the lateral incisor was extracted from 88 (75.86%) of them on the cleft side (CS) and from 23 (19.83%) people on the non-cleft side (NCS). The age at accomplishment of alveolar bone graft was significantly associated with maintenance of the lateral incisor on the cleft side (p<0.01). Most extractions were indicated because of the inadequate positioning on the CS and for midline correction on the NCS. Rehabilitation was primarily completed by orthodontic movement (53 individuals on the CS and 13 individuals on the NCS). Conclusion In conclusion, the lateral incisor on the cleft side was not maintained in most individuals. Positive relationship was observed between extraction of the lateral incisor and age at accomplishment of the alveolar bone graft, suggesting the need to anticipate the initial radiographic evaluation to enhance its maintenance and reduce the procedures required for rehabilitation.