Expression and function of patatin-like phospholipase domain-containing 2 in cleft palate induced by retinoic acid.

Cleft palate is a common maxillofacial congenital malformation, and its mechanism still has not been fully illustrated. Recently, lipid metabolic defects have been observed in cleft palate. Patatin-like phospholipase domain-containing 2 (Pnpla2) is an important lipolytic gene. However, its effect on the formation of cleft palate remains unknown. In this research, we explored the expression of Pnpla2 in the palatal shelves of control mice. We also studied mice with cleft palates induced by retinoic acid and its effect on the embryonic palatal mesenchyme (EPM) cells phenotype. We found that Pnpla2 was expressed in the palatal shelves of both the cleft palate and control mice. Pnpla2 expression was lower in cleft palate mice than in the control mice. Experiments with EPM cells showed that knockdown of Pnpla2 inhibited cell proliferation and migration. In conclusion, Pnpla2 is linked to palatal development. We have indicated that low expression of Pnpla2 affects palatogenesis by inhibiting the proliferation and migration of EPM cells.

The role of the histone methyltransferase SET domain bifurcated 1 during palatal development.

The histone methyltransferase SET domain bifurcated 1 (SETDB1) catalyzes the trimethylation of lysine 9 of histone H3, thereby regulating gene expression. In this study, we used conditional knockout mice, where Setdb1 was deleted only in neural crest cells (Setdb1fl/fl,Wnt1-Cre + mice), to clarify the role of SETDB1 in palatal development. Setdb1fl/fl,Wnt1-Cre + mice died shortly after birth due to a cleft palate with full penetration. Reduced palatal mesenchyme proliferation was seen in Setdb1fl/fl,Wnt1-Cre + mice, which might be a possible mechanism of cleft palate development. Quantitative RT-PCR and in situ hybridization showed that expression of the Pax9, Bmp4, Bmpr1a, Wnt5a, and Fgf10 genes, known to be important for palatal development, were markedly decreased in the palatal mesenchyme of Setdb1fl/fl,Wnt1-Cre + mice. Along with these phenomena, SMAD1/5/9 phosphorylation was decreased by the loss of Setdb1. Our results demonstrated that SETDB1 is indispensable for palatal development partially through its proliferative effect. Taken together with previous reports that PAX9 regulates BMP signaling during palatal development which implies that loss of Setdb1 may be involved in the cleft palate development by decreasing SMAD-dependent BMP signaling through Pax9.

Queiloplastia por técnica de Fisher: relato de caso / Fisher's cheiloplasty: case report

As fissuras labiopalatinas são as anomalias craniofaciais mais comuns, com uma prevalência mundial de 1 paciente para cada 1000 nascimentos, e de 1 para cada 650 nascidos no Brasil. O presente artigo relata um caso de um paciente com fissura labial unilateral completa, operado pela técnica de Fisher aos 10 meses, detalhando o método cirúrgico. Diversas técnicas de queiloplastias são descritas na literatura, com variáveis resultados estéticos e funcionais. No referido caso a técnica mostrou uma excelente qualidade de cicatriz, permitindo o trabalho fonoaudiológico para melhorar a motricidade oral... (AU)

As cleft lip and palate are the most common craniofacial anomalies, with a worldwide prevalence of 1 patient per 1000 births and 1 per 650 born in Brazil. This article reports a case of a patient with complete unilateral cleft lip, operated by Fisher's technique at 10 months, detailing the surgical method. Several cheiloplasty techniques are described in the literature, with several aesthetic and functional results. In this case, the technique showed an excellent quality of healing, allowing speech therapy to improve oral motor skills... (AU)

Maternal Folic Acid Deficiency Is Associated to Developing Nasal and Palate Malformations in Mice.

Craniofacial development requires extremely fine-tuned developmental coordination of multiple specialized tissues. It has been evidenced that a folate deficiency (vitamin B9), or its synthetic form, folic acid (FA), in maternal diet could trigger multiple craniofacial malformations as oral clefts, tongue, or mandible abnormalities. In this study, a folic acid-deficient (FAD) diet was administered to eight-week-old C57/BL/6J female mouse for 2-16 weeks. The head symmetry, palate and nasal region were studied in 24 control and 260 experimental fetuses. Our results showed a significant reduction in the mean number of fetuses per litter according to maternal weeks on FAD diet (p < 0.01). Fetuses were affected by cleft palate (3.8%) as well as other severe congenital abnormalities, for the first time related to maternal FAD diet, as head asymmetries (4.6%), high arched palate (3.5%), nasal septum malformed (7.3%), nasopharynx duct shape (15%), and cilia and epithelium abnormalities (11.2% and 5.8%). Dysmorphologies of the nasal region were the most frequent, appearing at just four weeks following a maternal FAD diet. This is the first time that nasal region development is experimentally related to this vitamin deficiency. In conclusion, our report offers novel discoveries about the importance of maternal folate intake on midface craniofacial development of the embryos. Moreover, the longer the deficit lasts, the more serious the consequent effects appear to be.

Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).

Xia-Gibbs syndrome (XGS) is a very rare genetic condition. The clinical spectrum is very broad and variable. The phenotype and evolution in a Congolese boy with XGS have been reported. At 6 years he had speech delay, drooling, marked hyperactivity, attention deficit, aggressive behavior, and intellectual disability. Dysmorphological evaluation revealed strabismus, mild unilateral ptosis, uplifted ear lobes, flat philtrum, thin upper lip vermillion, high arched palate, and flat feet. Patient-only whole exome sequencing identified a known pathogenic frameshift variant in the AHDC1 gene [NM_001029882.3(AHDC1):c.1122dupC;(p.Gly375ArgfsTer3)]. The clinical follow-up revealed the deterioration of his fine motor skills and significant cerebellar phenotype including tremor, pes cavus, and gait instability at the age of 12 years. This patient was compared with three previously reported patients with the same variant but did not identify a consistent pattern in the evolution of symptoms with age.

The characteristics of palate and upper dental arch can be an anatomical marker for men with schizophrenia? Case-control study: Palate can be a marker for schizophrenia?

AIMS: The aim of this study was to compare individuals with and without schizophrenia through the characteristics of the palate, such as width, length, depth, palate shape, and upper dental arch shape. METHODS AND RESULTS: The sample was divided into one case group (n = 45) and two control groups (n = 90; 45 individuals each group). Groups were paired by variables: sex, age, and malocclusion type. All analyses were performed on upper dental arch plaster models. All individuals were male and the mean age was 28.56 (SD: 7.82) years. The frequency of the malocclusion type observed was 54.1% (Class I), 22.2% (Class II), and 23.7% (Class III). Statistically significant difference was observed between the case and control groups for the variables palate shape (P = .004) and upper dental arch shape (P = .003). The case group had a higher frequency of the deep or grooved palate shape (57.8%) and parabolic dental arch shape (48.9%). There was no statistically significant difference for the palate width, length, and depth (P > .05). CONCLUSIONS: There was an evidence that the deep or grooved palate shape and parabolic dental arch shape are morphological characteristics of the palate in men with schizophrenia.

Oct4 plays a role in 2, 3, 7, 8 - tetrachlorobenzo-p-dioxin (TCDD) inducing cleft palate and inhibiting mesenchymal proliferation.

As a common birth defect, Cleft palate can be caused by the disturbance during the developmental process of the palatal shelves. The 2,3,7,8-tetrachlorodibenzo- p-dioxin (TCDD) is a well-known environmental teratogenic agent for cleft palate and Aryl hydrocarbon receptor (AhR) pathway can be activated by dioxins. Oct4 as a pluripotent stem cell transcription factor is also involved in the process of embryonic development. The AHR and retinoid receptors have cross-talk at CYP1A1 (cytochrome P450, family 1, subfamily A, polypeptide 1) promoter. There are also bidirectional talk between AhR and Oct4. In this study, we used C57/BL6 N mice and TCDD (64 µg/Kg body weight) to establish a model of fetal cleft palate to observe the effects of dioxin on fetal mesenchymal proliferation and apoptosis, and explore the role of Oct4 in inducing cleft palate. The results showed that dioxin inhibited mesenchymal proliferation and promoted apoptosis. In addition, dioxin inhibited Oct4 expression, and preliminary data suggest that hypermethylation of the Oct4 promoter may be a putative mechanism, suggesting that TCDD might induce cleft palate by inhibiting the proliferation of palatal mesenchymal cells mediated by Oct4.

SMARCE1-related Coffin-Siris Syndrome: Case report and otolaryngologic manifestations of the syndrome.

Coffin-Siris Syndrome (CSS) is a genetic syndrome associated with multiple congenital anomalies due to mutations in the BAF-complex or SOX gene. Although well characterized overall, the subunits of the BAF-complex or SOX gene affected demonstrate phenotypic differences which are continuing to be defined. Among the variants is the SMARCE1 mutation, the least common identified genotype. This case report presents a pediatric patient with SMARCE1-related CSS, the seventh case reported in the literature. The congenital anomalies are discussed and compared to the reported cases of SMARCE1-related CSS and CSS overall with an emphasis on otolaryngologic manifestations.

Obstructive Sleep Apnea in School-Aged Children Presented with Nocturnal Enuresis.

OBJECTIVES: We aimed to detect obstructive sleep apnea (OSA) among school-age children presented with nocturnal enuresis (NE) and to identify the possible risk factors for OSA in them. METHODS: Sixty-six children aged > 5-16 years presented with NE were enrolled in the study. Children with urinary tract anatomical abnormalities or infection, intellectual disabilities, genetic syndromes, psychological issues, and diabetes mellitus were excluded. They were clinically examined, scored using sleep clinical record score (SCR), and subjected for full-night polysomnogram (PSG). Children with obstructive apnea/hypopnea index (AHI) ≥ 2 episodes/hour (h) were considered as OSA. RESULTS: Fifty-four children (81.8% of the recruited children) aged 8.3 ± 2.8 years agreed to undergo PSG as 68.5% had OSA with median obstructive AHI of 6.1 (3.7-13.2) episodes/h, median oxygen saturation of 97% and nadir of 88%. Thirty-three percent were obese with significantly higher AHI [7.0 (3.7-12.4) vs. 2.4 (1.3-6.1) episodes/h; p = 0.023]. SCR score correlated significantly with AHI (r2 = 0.462, p = 0.001) with 91% sensitivity in detecting OSA ≥ 5 episodes/h. Nasal obstruction, adenoid/adult facial phenotype, and arched palate were associated with OSA (p < 0.05). CONCLUSION: NE is commonly associated with OSA especially in obese children. Nasal obstruction, abnormal facial phenotype, and high-arched palate were common risk factors.

Intentional Replantation with a 2-segment Restoration Method to Treat Severe Palatogingival Grooves in the Maxillary Lateral Incisor: A Report of 3 Cases.

The palatogingival groove is a developmental anomaly that typically starts near the cingulum of the maxillary incisors and extends along the roots at varying lengths and depths. Severe grooves that extend to the root apex often lead to complex combined periodontal-endodontic lesions. There are various therapeutic options available for these cases; however, the prognosis is unfavorable. Here, we report the successful surgical treatment of 3 cases of maxillary lateral incisors with severe palatogingival grooves using intentional replantation with a 2-segment restoration method. The teeth were gently extracted, resulting in minimal damage to the periodontal ligament. Under a dental operating microscope, 3 mm of the root end was resected. The palatogingival groove was removed, and root-end preparation was performed with a #700 fissure bur. The groove cavity was connected with root-end cavity to form a class II cavity. The cavity was then filled using a 2-segment restoration method (ie, dividing the cavity into 2 parts by the cementoenamel junction, the coronal portion was filled with a flowable composite while the radicular portion, including the root-end cavity, was filled with bioceramics). The tooth was then replanted into its alveolar bone and splinted with a flexible splint for 7 days. The sinus tract was closed at the 1-week postoperative visit. During subsequent recalls, the teeth showed almost complete periapical healing. In summary, intentional replantation with a 2-segment restoration method is a viable treatment modality for single-rooted teeth with a severe palatogingival groove that extends to the root apex.

Activation of sonic hedgehog signaling by a Smoothened agonist restores congenital defects in mouse models of endocrine-cerebro-osteodysplasia syndrome.

BACKGROUND: Endocrine-cerebro-osteodysplasia (ECO) syndrome is a genetic disorder associated with congenital defects of the endocrine, cerebral, and skeletal systems in humans. ECO syndrome is caused by mutations of the intestinal cell kinase (ICK) gene, which encodes a mitogen-activated protein (MAP) kinase-related kinase that plays a critical role in controlling the length of primary cilia. Lack of ICK function disrupts transduction of sonic hedgehog (SHH) signaling, which is important for development and homeostasis in humans and mice. Craniofacial structure abnormalities, such as cleft palate, are one of the most common defects observed in ECO syndrome patients, but the role of ICK in palatal development has not been studied. METHODS: Using Ick-mutant mice, we investigated the mechanisms by which ICK function loss causes cleft palate and examined pharmacological rescue of the congenital defects. FINDINGS: SHH signaling was compromised with abnormally elongated primary cilia in the developing palate of Ick-mutant mice. Cell proliferation was significantly decreased, resulting in failure of palatal outgrowth, although palatal adhesion and fusion occurred normally. We thus attempted to rescue the congenital palatal defects of Ick mutants by pharmacological activation of SHH signaling. Treatment of Ick-mutant mice with an agonist for Smoothened (SAG) rescued several congenital defects, including cleft palate. INTERPRETATIONS: The recovery of congenital defects by pharmacological intervention in the mouse models for ECO syndrome highlights prenatal SHH signaling modulation as a potential therapeutic measure to overcome congenital defects of ciliopathies.

Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome.

Kabuki Syndrome patients have a spectrum of congenital disorders, including congenital heart defects, the primary determinant of mortality. Seventy percent of Kabuki Syndrome patients have mutations in the histone methyl-transferase KMT2D. However, the underlying mechanisms that drive these congenital disorders are unknown. Here, we generated and characterized zebrafish kmt2d null mutants that recapitulate the cardinal phenotypic features of Kabuki Syndrome, including microcephaly, palate defects, abnormal ear development, and cardiac defects. The cardiac phenotype consists of a previously unknown vasculogenesis defect that affects endocardium patterning and, consequently, heart ventricle lumen formation. Additionally, zebrafish kmt2d null mutants have angiogenesis defects depicted by abnormal aortic arch development, hyperactive ectopic blood vessel sprouting, and aberrant patterning of the brain vascular plexus. We demonstrate that zebrafish kmt2d null mutants have robust Notch signaling hyperactivation in endocardial and endothelial cells, including increased protein levels of the Notch transcription factor Rbpj. Our zebrafish Kabuki Syndrome model reveals a regulatory link between the Notch pathway and Kmt2d during endothelium and endocardium patterning and shows that pharmacological inhibition of Notch signaling rebalances Rbpj protein levels and rescues the cardiovascular phenotype by enhancing endothelial and endocardial cell proliferation and stabilizing endocardial patterning. Taken together, these findings demonstrate that Kmt2d regulates vasculogenesis and angiogenesis, provide evidence for interactions between Kmt2d and Notch signaling in Kabuki Syndrome, and suggest future directions for clinical research.

An Early Developmental Marker of Deficit versus Nondeficit Schizophrenia.

People with schizophrenia and primary negative symptoms (deficit schizophrenia) differ from those without such symptoms (nondeficit schizophrenia) on risk factors, course of illness, other signs and symptoms, treatment response, and biological correlates. These differences suggest that the 2 groups may also have developmental differences. A previous study found that people with schizophrenia have a wider palate than comparison subjects. We tested the hypothesis that those with deficit and nondeficit schizophrenia would differ on palate width. A dentist made blinded measurements of palate shape in deficit (N = 21) and nondeficit (N = 25) patients and control subjects (N = 127), matched for age and gender. The deficit group had significantly wider palates than either nondeficit or control subjects (respective means [standard deviation] 37.5 [3.9], 33.7 [3.1], and 34.0 [2.9]; P < .001 for both deficit/nondeficit and deficit/control comparisons, respective effect sizes 1.08 and 1.01). The nondeficit/control difference in width was not significant (P = .83), and there were no significant group differences in length or depth. The power to detect a nondeficit/control difference in width equal in size to that of the deficit/control difference in width (3.5 mm) was 0.99 and 0.92 for a 2.0-mm difference. This difference in palate width may reflect a divergence in development between deficit and nondeficit patients that occurs by the early second trimester and is consistent with the hypothesis that deficit schizophrenia is a separate disease within the syndrome of schizophrenia.

Oral and dental findings in Bardet-Biedl syndrome: A case report.

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. This syndrome is associated with 19 genes present, and 80% of the cases are determined as a clinical diagnosis result. A 15-year-old female presented with a complaint of gingival bleeding during brushing. As a result of received detailed history and the intraoral-extraoral examinations; retinal dystrophy, obesity, polydactyly, and renal defects of Caucasian female consistent with BBS were reported. Oral and dental findings were high-arched palate, crowding, and missing tooth. As dentists, we should know the diagnostic criteria of this syndrome. In addition, we should have a high index of suspicion so as to enhance the timely recognition of this condition. Dentists should also be familiar with the management protocol that includes a multidisciplinary approach to alleviate the existing conditions.

Anterior cleft palate due to Cbfb deficiency and its rescue by folic acid.

Core binding factor ß (Cbfb) is a cofactor of the Runx family of transcription factors. Among these transcription factors, Runx1 is a prerequisite for anterior-specific palatal fusion. It was previously unclear, however, whether Cbfb served as a modulator or as an obligatory factor in the Runx signaling process that regulates palatogenesis. Here, we report that Cbfb is essential and indispensable in mouse anterior palatogenesis. Palatal fusion in Cbfb mutants is disrupted owing to failed disintegration of the fusing epithelium specifically at the anterior portion, as observed in Runx1 mutants. In these mutants, expression of TGFB3 is disrupted in the area of failed palatal fusion, in which phosphorylation of Stat3 is also affected. TGFB3 protein has been shown to rescue palatal fusion in vitro TGFB3 also activated Stat3 phosphorylation. Strikingly, the anterior cleft palate in Cbfb mutants is further rescued by pharmaceutical application of folic acid, which activates suppressed Stat3 phosphorylation and Tgfb3 expression in vitro With these findings, we provide the first evidence that Cbfb is a prerequisite for anterior palatogenesis and acts as an obligatory cofactor in the Runx1/Cbfb-Stat3-Tgfb3 signaling axis. Furthermore, the rescue of the mutant cleft palate using folic acid might highlight potential therapeutic targets aimed at Stat3 modification for the prevention and pharmaceutical intervention of cleft palate.

Using of modified rapid palate expander with miniscrews in a patient affected by ectodermic dysplasia.

OBJECTIVES: To show the orthodontic treatment in a 8-year-old patient affected by Ectodermal Dysplasia (hypohidrotic type) and presenting multiple agenesiae, contraction of the maxilla and skeletal Class III malocclusion. STUDY DESIGN: Because of both oligodontia of primary and secondary dentition and no good retention and anchoring, a hybrid modified rapid palatal expander (RPE) was used. It presented dental anchoring with two bands on first upper molars and skeletal anchoring with two miniscrews in the anterior palate. The project included the use of a CBTC for the bone examination and precise silicon dental impression for the insertion of miniscrews. RESULTS: The procedure was successful and the patient solved the expansion in few days, so RPE has been embedded throughout 6 months in order to develop the bone at the median suture. CONCLUSIONS: This case report can be considered as a valid example for approaching patients affected by Ectodermal Dysplasia with multiple agenesiae and palatal contraction because of the difficult retention.

Versatilidad del colgajo famm para la cobertura de defectos intraorales / Versatility of the famm flap in intraoral reconstruction / Versatilidade do retalho FAMM na cobertura de defeitos intra-orais

Introducción y Objetivo: El colgajo FAMM (colgajo músculo-mucoso de arteria facial) descrito en 1992 por Pribaz y col, es un colgajo intraoral basado en la arteria facial, compuesto por mucosa oral, submucosa, músculo bucinador, arteria facial y por el plexo venoso correspondiente y puede ser de base inferior (flujo anterógrado) o superior (flujo retrógrado). Es un colgajo versátil que se puede usar en la reconstrucción de defectos de múltiples localizaciones (paladar, lengua o suelo de boca). Con este trabajo pretendemos demostrar su utilidad en la reconstrucción de diferentes defectos intraorales. Material y Método: Presentamos 3 casos en lo que empleamos el colgajo FAMM para reconstrucción intraoral: un paciente con anquiloglosia cicatricial secuela de carcinoma de suelo de boca, un paciente con fístula de paladar secuela de resección tumoral, y un paciente con exposición intraoral de arco mandibular por osteonecrosis secundaria a bifosfonatos. Resultados: Todos los colgajos sobrevivieron al 100% y permitieron una cobertura estable y duradera, con ausencia de complicaciones mayores. Conclusiones: El colgajo FAMM permite la reconstrucción de defectos intraorales y periorales con tejido bien vascularizado y de idénticas características a las de la zona a reconstruir, con baja morbilidad de la zona donante, lo que lo convierte en una excelente opción reconstructiva para defectos de esta región anatómica

Background and Objective: The facial artery musculo-mucosal (FAMM) flap, first described by Pribaz et al. in 1992, is an intraoral flap based on the facial artery. It is composed of mucosa, submucosa, buccinator muscle and the facial artery along with its venous plexus. The design of the flap can be inferiorly-based and rely on antegrade blood flow or superiorly-based with retrograde flow. The FAMM flap is a versatile flap that can be used for the reconstruction of defects of multiple locations (palate, lips, tongue, and floor of the mouth). The purpose of this study is to demonstrate the utility of the FAMM flap in the reconstruction of different intraoral defects. Methods: In this article the authors present 3 cases in which the FAMM flap was used for intraoral reconstruction: one patient with a history of ankyloglossia sequelae of a squamous cell carcinoma of the floor of the mouth; one patient with a palatal fistula sequelae of tumor excision; and one patient with a biphosphonate-related osteonecrosis of the mandible. Results: All flaps survived and provided a stable and reliable coverage of the defect. There were no major complications. Conclusions: The FAMM flap is a well vascularized flap that replaces like with like tissue. Because of its low morbidity, low rate of complications and reliable results, the FAMM flap is an excellent option for reconstruction of small to moderate intra-oral defects

Introdução e Objetivo: O retalho FAMM (facial artery musculo-mucosal flap), descrito em 1992 por Pribaz et al., é um retalho intra-oral baseado na artéria facial. É composto por mucosa oral, submucosa, músculo bucinador, artéria facial e pelo plexo venoso correspondente, podendo basear-se inferior (fluxo anterógrado) ou superiormente (fluxo retrógrado). É um retalho versátil que pode ser utilizado nareconstrução de defeitos em múltiplas localizações (palato, lábio, língua, pavimento da boca). Com este trabalho pretende-se demonstrar a utilidade do retalho FAMM na reconstrução de diferentes defeitos intra-orais. Material e Métodos: Os autores apresentam 3 casos em que se utilizou o retalho FAMM para reconstrução intra-oral: um doente com anquiloglossia cicatricial sequelar de carcinoma do pavimento da boca; uma doente com uma fístula do palato sequela de excisão tumoral; e um doente com exposição intra-oral do arco mandibular anterior por osteonecrose secundária a bifosfonatos. Resultados: Todos os retalhos sobreviveram a 100% e permitiram uma cobertura estável e duradoura, na ausência de complicações major. Conclusão: O retalho FAMM permite a reconstrução de defeitos intra e peri-orais com tecido bem vascularizado e de características idênticas à zona a reconstruir, com baixa morbilidade da zona dadora, o que o torna uma excelente opção reconstrutiva para defeitos desta região anatómica

[Voice and speech of children with 22q11 deletion syndrome]. / Voz y habla de los niños con sindrome de delecion de 22q11.

INTRODUCTION: The 22q11 deletion syndrome (S22q11) is a genetic disorder caused by the loss of a fragment of the chromosome 22. The clinical manifestations associated with the syndrome are diverse, including learning difficulties and alterations in voice, speech and language. However, to date we have not found any study that evaluates these aspects in the Spanish population with S22q11. PATIENTS AND METHODS: We evaluate the voice and speech of a sample of 10 boys and 7 girls, aged 3 years and 3 months to 13 years and 9 months old (mean age: 9,4 ± 3,5 years old) with S22q11, with voice recordings and a phonological and phonetic evaluation. Also, semistructured type interview is administered to parents. RESULTS: Most children of our series, both male and female, with S22q11 have a deeper voice than expected by gender and age, except for male children over 12 years. In terms of intensity, all of them are within the parameters of normality in spontaneous conversation. Almost all of them showed alterations in voice quality, mainly due to hypernasality. Regarding the speech, there are major difficulties in the articulation of fricatives, affricates and vibrant rhotic consonant clusters + /r/. Likewise, children, especially the youngest ones, make use of glottal stops to replace consonants. CONCLUSIONS: In the studied sample, most of the children with S22q11 have specific voice and speech alterations.

TITLE: Voz y habla de los niños con sindrome de delecion de 22q11.Introduccion. El sindrome de delecion de 22q11 (S22q11) es un trastorno genetico causado por la perdida de un fragmento del cromosoma 22. Las manifestaciones clinicas que presenta quien lo padece son diversas, incluyendo dificultades del aprendizaje y alteraciones de la voz, el habla y el lenguaje. No obstante, hasta ahora no hemos encontrado ningun estudio que evalue estos aspectos en la poblacion española con el S22q11. Pacientes y metodos. Se evalua la voz y el habla de una muestra de 10 niños y 7 niñas, de 3 años y 3 meses a 13 años y 9 meses (edad media: 9,4 ± 3,5 años), con el S22q11, a traves de registros de voz y de una prueba de evaluacion fonologica y fonetica. Ademas, se realiza una entrevista semiestructurada a los padres. Resultados. La mayoria de los niños y las niñas con el S22q11 tienen una voz mas grave de lo esperable por su sexo y edad, a excepcion de los niños varones con mas de 12 años. En cuanto a la intensidad, todos ellos se encuentran dentro de los parametros de normalidad en la conversacion espontanea. Todos presentan alteraciones del timbre, principalmente por hipernasalidad. Respecto al habla, hay mayores dificultades en la articulacion de las fricativas, las africadas, la rotica vibrante (/r/) y los grupos consonanticos + /r/. Asimismo, los niños, sobre todo los mas pequeños, utilizan las oclusivas gloticas para sustituir consonantes. Conclusiones. En la muestra estudiada, la mayoria de los niños con el S22q11 presenta alteraciones especificas tanto de la voz como del habla.

[Application of double skin island free forearm flap in the repair of large perforating defect of palate].

Objective:To explore the value of free forearm flap with double skin island in repairing large perforating defect of palate. Method:The free forearm flap with double skin island was used to repair 6 cases of large perforating palatal defect due to oral malignant tumor. Preoperative Allen test and ultrasound doppler examination were used to judge the forearm vessels. Result:All the free forearm flap with double skin island survived in 6 cases, followed up for 3 months to 24 months, the patients ate normally, swallowing without nasal regurgitation. The patients had mild to moderate nasal sounds, and the patients were satisfied with the effect of operation and the quality of life. Conclusion:The double skin island free forearm flap is a reliable method for repairing large perforating defect of palate, with satisfactory morphological function and good effect.

A importância de um protocolo preventivo no atendimento odontológico de pacientes fissurados: uma revisão sistemática da literatura / The importance of a preventive protocol in dental care of patients with cleft lip and palate: a systematic review of literature

Objetivo: O objetivo deste estudo foi revisar sistematicamente na literatura publicações relacionadas ao protocolo de atendimento do cirurgião-dentista frente a pacientes com fissura labiopalatal. Métodos: Foram revisados artigos publicados até março de 2018, nas línguas inglesa, portuguesa e espanhola, obtidos por meio de buscas nas bases eletrônicas PubMed, Scopus, LILACS, Bireme, SciELO e busca manual nas referências dos artigos encontrados. Resultados: A busca resultou em 141 artigos, onde após a aplicação dos critérios de exclusão foram obtidos quatro artigos. Os artigos selecionados eram de revisão de literatura, o que impossibilitou a realização de uma revisão sistemática da literatura. Todos os artigos foram lidos na íntegra e resultaram em um protocolo de atendimento dividido de acordo com as fases de erupção dental, com ênfase na prevenção. O protocolo foi separado em: fase pré-eruptiva e de dentição decídua, dentadura mista e dentição permanente. Na fase pré-eruptiva e de dentição decídua a orientação é dar ênfase na prevenção, na fase de dentadura mista tem-se o início da ortodontia preventiva além da manutenção das ações preventivas e na fase de dentição permanente trabalha-se novamente com a prevenção inicia-se a ortodontia fixa e quando necessário a realização de cirurgia ortognática. Conclusão: Em relação aos achados, fica evidente a importância da prevenção durante todas as fases, visando a manutenção do perímetro da arcada, e manutenção da integridade dos dentes permanentes. O cirurgião-dentista deve estar apto a realizar o atendimento tendo como base um protocolo para efetuar o manejo correto conforme a faixa etária e a fase de erupção dental em que o paciente se encontra. O aprimoramento do cirurgião-dentista na abordagem aos pacientes portadores de fissura labiopalatal deve ser constante, bem como a criação de vínculo afetivo com o paciente e a família visando um tratamento preciso e humanizado. (AU)

Aim: This study sought to systematically review publications in the literature related to the Dentist's Protocol as regards palatal cleft patients. Methods:This study reviewed articles published up to March 2018, in English, Portuguese, and Spanish, obtained through data searches on PubMed, Scopus, LILACS, Bireme, SciELO, as well as through a manual search in the references of the identified articles. Results: The search resulted in 141 articles; after the application of the exclusion criteria, four articles were selected. The selected articles were literature reviews, making it impossible to conduct a systematic review of the literature. All of the obtained articles were read in full, resulting in a care protocol that was divided according to the dental eruption stages, with emphasis on prevention. The protocol was divided into: the pre-eruptive and deciduous dentition stage, mixed denture, and permanent dentition. In the pre-eruptive and deciduous dentition stage, the dental advice is to emphasize prevention; in the mixed dentition stage, there is the beginning of preventive orthodontics as well as the maintenance of preventive actions; while in the permanent dentition stage, one again works with prevention. fixed orthodontics is begun, and when necessary, orthognathic surgery is also applied. Conclusion: Regarding the findings, the importance of prevention during all stages is clear, in an attempt maintain the perimeter of the dental arch and the integrity of the permanent teeth. The dentist should be able to perform the service based on a protocol for the correct handling according to the age range and dental eruption stage of the patient. The improvement of the dentist in providing dental care to patients with cleft lip and palate should be constant, as should the creation of an affective bond with the patient and the family, aimed at providing a precise and humanized treatment. (AU)