Presencia de dientes natales o neonatales en pacientes pediátricos con y sin labio y paladar hendido / Presence of natal or neonatal teeth in pediatric patients with and without cleft lip and palate

Objetivo: determinar la presencia de dientes natales y neonatales en pacientes pediátricos con/sin labio y paladar hendido, que han sido atendidos en un hospital de tercer nivel de 2019-2020, mediante la revisión de expedientes clínicos. Métodos: estudio retrospectivo, observacional descriptivo y revisión de expedientes de pacientes atendidos de 2019-2020. Resultados: en el hospital de tercer nivel se reportan 15 nacimientos por día, 5475 al año. De estos, se identificaron 110 bebés con dientes natales revisados en cuneros, 84 pacientes con labio y paladar hendido en consulta, con una relación de 1:50, mayor prevalencia en dientes inferiores centrales. Su manejo fue resuelto con extracciones en todos los casos, debido a la movilidad dental y el riesgo potencial en la alimentación por bronco aspiración del paciente. Conclusiones: los dientes neonatales y natales se encontraron con mayor frecuencia en pacientes de unidades de tercer nivel consultadas, posiblemente por ser centros de referencia. Se identificó confusión en el personal de salud respecto a la nomenclatura de los dientes que presentan los pacientes al nacer (dientes neonatales), además, se encontró una alta frecuencia de dientes natales en los pacientes estudiados en este caso. La relevancia se encuentra en que no hay estudios que definan la razón del porqué los pacientes nacen con dientes. La respuesta puede estar relacionada con un factor hormonal de la madre, aunque no se ha encontrado evidencia sobre esto. Mientras que los dientes neonatales

Objective: To determine the presence of natal and neonatal teeth in pediatric patients with/without cleft lip and palate who have been seen in a tertiary hospital from 2019-2020, by reviewing clinical records. Methods: Retrospective, descriptive observational study and review of patient records from 2019-2020. Results: In the third level hospital 15 births are reported per day, 5475 per year. Of these, 110 babies with natal teeth were identified in the nursery, 84 patients with cleft lip and palate were identified in consultation, with a ratio of 1:50, with a higher prevalence in lower central teeth. Their management was solved with extractions in all cases, due to tooth mobility and the potential risk in feeding by bronchial aspiration of the patient. Conclusions: Neonatal and natal teeth were found more frequently in patients in the tertiary level units consulted, possibly because they were referral centers. Confusion was identified among health personnel regarding the nomenclature of the teeth that patients present at birth (neonatal teeth), and a high frequency of natal teeth was found in the patients studied in this case. The relevance lies in the fact that there are no studies that define the reason why patients are born with teeth. The answer may be related to a hormonal factor of the mother, although no evidence on this has been found. While neonatal teeth occurred less frequently, there are no conclusive studies either.

TP63 gene mutation analysis in a case of ankyloblepharon-ectodermal defects-cleft lip/palate syndrome / 中华皮肤科杂志

Objective:To analyze pathogenic mutations in a child with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome.Methods:Clinical data were collected from a patient with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, and DNA was extracted from peripheral blood samples from the patient and his parents. High-throughput sequencing was performed in the patient by using a gene panel targeting hereditary skin diseases, aiming to determine sites of disease-causing gene mutations. Then, Sanger sequencing was conducted to bidirectionally verify the mutations in the patient and his parents.Results:The male patient aged 3 years and 9 months, and presented with extensive erythema, scales, erosions as well as repeated infections and erosions of the scalp after birth. Reticulated hyper- and hypopigmented patches and scars left on the trunk and limbs after healing of erosions. Physical examination also showed sparse scalp hair, absence of most eyebrows and eyelashes, cleft palate, dysplastic teeth, dystrophic finger and toe nails, and deformed ears without ankyloblepharon. Genetic testing of the patient showed a novel heterozygous missense mutation c.1790T>A (p.Ile597Asn) in the TP63 gene, which had not been reported previously and was rated as pathogenic according to the American College of Medical Genetics and Genomics guidelines. This mutation was not identified in either of his parents.Conclusion:The novel heterozygous missense mutation c.1790T>A in the TP63 gene probably contributes to ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in the patient, which expands genotypic and phenotypic spectrum of this disease.

Study on the application of oral digital design in aesthetic restoration of anterior teeth of cleft lip/palate patients / 华西口腔医学杂志

OBJECTIVES@#A study was conducted to investigate the clinical effects of oral digital design on the aesthetic restoration of anterior teeth of cleft lip/palate patients.@*METHODS@#Nine adult cleft lip/palate patients who need aesthetic restoration of anterior teeth were recruited. Digital information of patients' dental arches, the surrounding soft tissue and face were captured by digital camera and scanner. The aesthetic analysis and design were conducted using keynote and 3shape software and were demonstrated to the patients. The optimized treatment plan was ensured by communicating with the patients. Digital wax-up models were exported and printed into resin diagnostic models, which were then utilized in the treatment process to guide the doctors and the technicians in tooth preparation and in making the final restorations, respectively. The adhesive procedure was completed after satisfactory try-in. Aesthetics assessment was conducted in accordance with the anterior esthetic evaluation form. The scores of patient's satisfaction were recorded on a questionnaire containing six items of aesthetic index and doctor-patient communication. Patients were interviewed and examined after 1, 3, 6, and 12 months, respectively, and the clinical effects of restorations were evaluated.@*RESULTS@#All nine patients had satisfactory clinical results. The aesthetic defects of the patients were effectively addressed. All treatments met the requirements of the preoperative digital designs. The patients' scores were all above 90 on the satisfaction scale. At 12 months after the operation, the clinical effects of restorations of all cases achieved A class in each evaluation indicator.@*CONCLUSIONS@#For cleft lip/palate patients with esthetic defect in the anterior teeth, the digital design plays an important role in optimizing the treatment plan and guides the whole treatment process. This design can help clinicians achieve predictable satisfactory aesthetic results.

Estudio Comparativo de Crecimiento Estaturo Ponderal y Acceso a Lactancia Materna Durante el Primer Año de Vida de Niños con Fisura Labio Máxilo Palatina versus Niños sin Fisura / Comparative Growth and Development Study in Children with Cleft Lip Palate Fissure versus Children without Fissure

RESUMEN: La fisura labio máxilo palatina (FLMP) es un problema de salud pública en Chile. Consiste en la falta de fusión del labio y/o los procesos palatinos, generando un desequilibrio músculo esqueletal que impide el desarrollo facial normal. Afectando algunas funciones vitales como respiración, succión y deglución pudiendo ocasionar problemas nutricionales. Evaluar el crecimiento estaturo ponderal y acceso a lactancia materna de niños con fisura labio máxilo palatina (FLMP) comparados con niños sin fisura durante el primer año de vida. Estudio de tipo observacional, analítico de cohorte retrospectivo a partir de los datos provenientes de entrevistas a las madres de niños con FLMP no sindrómica atendidos durante el año 2017 y niños sin FLMP perteneciente a la misma región. En niño/as sin FLMP predomina la lactancia materna exclusiva y en niños/as con FLMP lactancia mixta (47,7 %) y uso exclusivo de leche de fórmula (33.3 %). Los niños/ as con FLMP durante el primer año de vida pesan en promedio 0,45 Kg y miden 1,11 cm menos que los niños/as sin fisura. Los niños/as con FLMP reciben menos lactancia materna y tienen un menor crecimiento estaturo ponderal que los niños/sin FLMP durante el primer año de vida, siendo el peso el parámetro de crecimiento más afectado.

ABSTRACT: The maxillary cleft lip and palate fissure (CLPF) is a public health problem in Chile. It involves the lack of fusion of the lip and / or the palatal processes, generating a skeletal muscle imbalance that prevents normal facial development, further affecting vital functions such as breathing, sucking and swallowing. It may also cause nutritional problems. An observational, analytical, retrospective cohort study was carried out, to assess the growth in weight status of breastfeeding infants with maxillary CLPF, and compare it with children without fissure during the first year of life. The study was based on data obtained in 2017, from interviews with mothers of infants with non-syndromic CLPF, and those without CLPF from the same region in Chile. In children without CLPF, exclusive breastfeeding predominated, while children with CLPF received mixed breastfeeding (47.7 %) and exclusive use of formula milk (33.3 %). During the first year of life, infants with CLPF weighed an average of 0.45 kg and measured 1.11 cm less, than children without fissures. Children with CLPF received less breastfeeding and ranked lower in weight and growth than children / without CLPF during the same time period, with weight being the most affected growth parameter.

Caracterización Y Tipos De Errores Articulatorios En Pacientes Con Labio Y Paladar Hendido / Characterization And Types Of Articulation Errors In Individuals With Cleft Lip And Palate

Introducción: La condición de labio y paladar hendido (LPH) es una malformación frecuente a nivel mundial; en Colombia la presentan 16 por cada 10000 nacidos vivos, resultando mayormente en Trastorno del habla por presencia de Articulaciones Compensatorias. Objetivo: Caracterizar a la población colombiana residentes en Bogotá respecto a errores articulatorios y fonemas afectados por la condición de LPH. Materiales y métodos: Estudio observacional descriptivo donde se incluyeron 108 historias clínicas de pacientes evaluados en el año 2016 tomando datos de valoración fonoaudiológica y categorías de Universal Parameters for Reporting Speech Outcome in individuals with Cleft Palate. Resultados: La Oclusión Glotal se correlaciona con el 40,06% de los errores; el 21,47% y el 15,38% de los errores involucran los fonemas dentoalveolares oclusivo /t/ y fricativo /s/, respectivamente. El sexo femenino corresponde al 44,44%, sin embargo, presenta 5,77% más errores que el masculino. El grupo de 7 a 36 años presenta una mayor cantidad de errores con 65,06% (203) junto con el de LPH con 77,24% teniendo la cifra más alta entre los grupos con 241. El 75% de la población presenta alteraciones del habla, el 41,66% de ellos presenta fistula e hipernasalidad. Conclusiones: Existen variaciones en la sustitución de fonemas de alta presión por diferentes tipos articulaciones compensatorias, sin embargo, la Oclusión Glotal el tipo de compensación prevalente y los fonemas dentoalveolares los más afectados, sin distinción de género, edad, lugar de nacimiento o residencia. Edades superiores, el sexo femenino y la condición de LPH, son factores que pueden presentar una severidad más profunda del trastorno.

Introduction: Cleft lip and palate (CLP) is a frequent malformation worldwide, in Colombia affects 16 for every 10,000 live births, resulting mainly in speech disorder due to the presence of compensatory articulations (CAs). Objective: To characterize the Colombian population residing in Bogotá regarding articulatory errors and phonemes affected by CLP. Materials and methods: Descriptive observational study that includes 108 medical records of patients evaluated in 2016 taking data from speech and language assessment and categories of Universal Parameters for Reporting Speech Outcome in individuals with Cleft Palate. Results: Glottal stop correlates with 40.06% of the errors, 21.47% and 15.38% of the errors involved dentoalveolar phonemes occlusive /t/ and fricative /s/, respectively. Female sex corresponds to 44,44%, nevertheless, it presents 5.77% more errors than males. The group of 7 to 36 years old presents a greater number of errors 65.06% (203) with LPH 77.24% have the highest number among the groups 241. The 75% of the population presents alterations of speech, 41.66% of them present fistula and hypernasality. Conclusions: There are variations on the substitution of high-pressure phonemes for different types of compensatory articulation errors, however, the Glottal Stop is the prevalent type of CAs and dentoalveolar phonemes are the most affected, without distinction of gender, age, place of birth or residence. Older ages, female gender, and CLP are factors that may present a deeper severity of the disorder.

Trisomy 13 mosaicism syndrome with atypical plurimalformative phenotype

Introduction: Orofacial clefts are important congenital malformations of the lip, palate, or both caused by complex genetic and environmental factors. Aims and Objectives: The present study aims to highlight the phenotypic heterogeneity of trisomy 13 mosaicism. Material and Methods: We present one clinical case of a 30-year-old, Caucasian woman who is pregnant for the first time. Techniques of work study: anamnesis, clinical examination, serological tests for Toxoplasmosis, Rubeola, CMV and Herpes, ultrasound examination at 20 weeks gestation with General Electric Echographe Voluson E10 BT18, amniocentesis, fetal chromosome analysis and genetic counseling. Results: Ultrasound examination showed a viable singleton fetus with intra-uterine growth restriction, oligohydramnios, bilateral cleft lip and cleft palate, hypoplastic nasal bone and bilateral polycystic kidneys. Amniocentesis was done, and the fetal chromosomal analysis revealed a fetus with 46, XY/47, XY,+13 mosaic karyotype. After a complex genetic counselling the parents opted, to terminate the pregnancy. The autopsy confirm the prenatal ultrasound diagnosis. Conclusion: Routine ultrasound examination during pregnancy and specific genetic testing are essential for the early prenatal detection of major structural fetal anomalies associated with rare genetic chromosome syndromes.

Non-genetic Factors Contribute To The Incidence Of Non Syndromic Clefts In The Craniofacial Region

Background: The multifactorial etiology of clefts includes both genetic and environmental factors. Many studieswere conducted to identify the genetic basis of the etiology of clefts and effect of maternal folic acid intake inreducing the risk of clefts.. Not many studies conducted about other environmental factors causing clefts. Thepresent study is to find out the non-genetic factors associated with the nonsyndromic clefts. The maternalpericonceptional intake of folic acid, family history, parental age, socioeconomic status, parental alcoholismand smoking, and parental occupational exposure are the factors included in the study.Materials and methods: The study group comprised 400 subjects with 200 Nonsyndromic cleft cases and 200healthy controls from the South Indian population. The data was collected in a detailed questionnaire by directinterview and analyzed the data using SPSS version 21. Logistic regression model was used to measure the oddsratio(OR) for the independent variables and Chi- square analysis was performed to find out the significance.Results: The family history of clefts was found in 10.6% cleft cases (p value= 0.001). The risk of cleft wasincreased in cases with no maternal folic acid intake in their first trimester of pregnancy (p value= 0.001).Parental age more than 35 years (p value= 0.004) and low maternal education (p value= 0.001) were also foundas the risk factors to cleft. Low socioeconomic background was another risk factor (p value= 0.001). Parentaloccupational exposure in terms of pestcidal exposure was found significant but not the parental medicationand smoking.Conclusion: Maternal consumption of folic acid and multivitamins during the periconceptional period to beassured to prevent the occurrence of oral clefts. Family history of cleft increases the risk of cleft and the risk isfurther increased when cleft is present in parents or siblings. And maternal age more than 35 years is foundmore significant than the paternal age . Consanguinity showed 4 fold increase in clefts. Maternal diet is a primefactor as it is directly related to folic acid and vitamin supplementation apart from the socioeconomic status offamily

Maxillary distraction osteogenesis for correction of maxillary retrognathia in cleft lip and palate patients: a case series

The treatment protocol of patients having maxillary retrognatia is presented in this case series. Maxillary expansion, secondary alveolar bone grafting and/or oronasalfistula closure were performed in 6 cleft lip and palate patients. Preoperative simulation of LeFort I osteotomy and adaptation of maxillary distractors were realized with stereolytographic cranium models. Intraoral maxillary distraction was applied under general anesthesia. A single unit acrylic occlusal splint was ligated to maxillary dental arch and worked as a guide during entire activation and consolidation period of distraction osteogenesis. Rigid internal fixation plates were placed in the osteotomy sites at the end of consolidation period. The amount of maxillary advancement was between 5-14 mm. Satisfying occlusal and skeletal relationships were obtained in all patients. Advancement of maxilla by distraction osteogenesis resulted in gradual formation of bone at the osteotomy line and enhanced treatment outcome in patients with cleft lip and palate

Evaluation of facial appearance in patients with repaired cleft lip and palate: comparing the assessment of laypeople and healthcare professionals / 대한악안면성형재건외과학회지

BACKGROUND: The present study aimed to determine whether laypeople and professionals rate the facial appearance of individuals with repaired complete unilateral or bilateral cleft lip and palate (UCLP, BCLP) similarly based on viewing full facial images. METHODS: The study followed a cross-sectional analytical design where five young patients aged 10 to 14 years, who had completed all stages of their unilateral or bilateral cleft lip and palate treatment (bilateral: three, unilateral: two), were evaluated by two groups. The assessment was done by laypeople and 97 qualified professionals (33 orthodontists, 32 plastic surgeons, and 32 oral and maxillofacial surgeons). Professionals were not involved in any stage of the patients’ treatment. RESULTS: The facial appearance assessment of the professional groups on different facial aesthetics was significantly lower than that of laypeople, and they had higher perceived need for further treatment. On the other hand, laypeople had higher aesthetic ratings and lower perceived need for further treatment. Differences were also observed between the assessments of the professional groups. Participants who had lower aesthetic assessments of the repair tended to report a higher influence of cleft lip and palate on social activities and professional life. CONCLUSION: Differences in perception exist between healthcare professionals and laypeople. The discrepancies between the professional groups could be attributed to different treatment modalities and protocols.

Puente adhesivo temporal como solución estética en paciente con fisura de labio y paladar / Temporary adhesive bridge as aesthetic solution in patient with cleft lip palate

RESUMEN: Las dificultades por ausencia de una pieza dentaria anterior en un paciente con fisura de labio y paladar operado y en período de crecimiento requieren una solución estética inmediata posterior al retiro de aparatología fija de ortodoncia y en espera de una solución definitiva, sin embargo, ante escenarios como éste son útiles materiales de restauración que cumplan con indicaciones como rapidez en el trabajo, de tipo adhesivos reforzados con fibras de polietileno, altamente estéticos, manipulables y útiles en moldeabilidad. Se presenta un caso donde se utilizó resina compuesta, una cinta reforzada de fibra de polietileno, para la realización de un puente de reposición temporal de dos piezas dentarias anteriores en un paciente con diagnóstico de fisura de labio y paladar unilateral como una solución muy estética, no invasiva, provisional en espera del término del crecimiento para una rehabilitación definitiva.

ABSTRACT: There are several therapeutic alternatives for the rehabilitation of absent permanent teeth, but these alternatives are limited when the piece has an im-portant aesthetic component and must be performed in developing patients. Such is the case of patients with cleft palate, in which it is essential to use a highly es-thetic material and to rehabilitate edentulous spaces, usually an incisor, once the orthodontic treatment is completed and as a temporary solution in waiting of a de-finitive rehabilitation in these situations, restorative materials reinforced with poly-ethylene fibers are useful. In this case, a reinforced tape of polyethylene fiber was used as a temporary replacement bridge of two anterior teeth in a patient with a diagnosis of cleft lip and unilateral palate as an esthetic, non-invasive and temporary solution until his grow for a definitive rehabilitation.

Tratamiento integral de fisura palatina con injerto de lengua: reporte de caso / Sinus floor elevation with a lateral window technique and simultaneous dental implants placement: case report

RESUMEN: La fisura labio palatina (FLP) es una alteración del desarrollo, congénita, de etiología desconocida. La fístula oronasal es la complicación más común de la reparación del paladar con fisura. Los problemas más comunes incluyen hipernasalidad al hablar y el pase de fluidos y comida hacia la cavidad nasal. El caso corresponde a un paciente de 16 años de edad, sexo masculino, con fístula buconasal de 2,1 cm de diámetro mayor en sentido transversal, como secuela de FLP unilateral derecha. Además relata problemas en la alimentación, traspaso de fluidos a la cavidad nasal, problemas de habla por insuficiencia velo faríngea (IVF) valor 9, alteraciones en sus relaciones interpersonales y baja autoestima. Se realizó el injerto de lengua en fístula buconasal, tratamiento de ortodoncia y rehabilitación oral para dar solución estética y funcional. El éxito del tratamiento integral le permitió al paciente mejorar sus relaciones sociales debido a una mayor autoestima.

ABSTRACT: The cleft lip and palate (CLP) is a developmental and congenital anomaly of unknown etiology. The oronasal fistula is the most common complication of the cleft palate reparation. The most common problems are hypernasality on speech and the passage of fluids and food to the nasal cavity. This case is about a sixteen- year-old boy with a 2,1 cm diameter oronasal fistula due to a right unilateral CLP sequel. He also presented alimentation problems, fluid passage to the nasal cavity, speech defects by velopharyngeal insufficiency (VFI), relationships problems and low self-esteem. A tongue graft in the oronasal fistula, orthodontic treatment and oral rehabilitation were made to give an aesthetic and functional solution. The success of the treatment allowed the patient to improve his relationships due to a greater self-esteem.

Estudio clínico-epidemiológico en niños con labio paladar hendido en un hospital de segundo nivel / Clinical-epidemiological study in children with cleft lip palate in a secondary-level hospital

Resumen: Introducción: El padecimiento de labio paladar hendido es una de las alteraciones congénitas más comunes que afecta las estructuras de la cara. El objetivo de este trabajo fue generar el perfil epidemiológico y clínico de la población con LPH atendida en el Hospital de Especialidades del Niño y la Mujer Dr. Felipe Núñez Lara de la Secretaría de Salud del estado de Querétaro, México, en el periodo de 2011-2014, a través de la Clínica de Labio Paladar Hendido, para brindar tratamientos interdisciplinarios a los pacientes con esta afección con base en la información de los expedientes registrados en el periodo mencionado. Métodos: Estudio observacional, transversal, retrospectivo usando análisis univariado con frecuencias para variables cualitativas, y estadísticas centrales y de dispersión para variables cuantitativas y perfil clínico. Se revisaron 100 expedientes; se descartaron 15 por tratarse de casos sindrómicos. Las variables estudiadas fueron sociodemográficas, epidemiológicas y clínicas. Resultados: Se presentan los perfiles epidemiológicos (variables relativas al embarazo de la madre y salud del paciente al momento de su nacimiento, desarrollo nutricional y psicomotor; antecedentes heredo-familiares y presencia de adicciones; datos socioeconómicos familiares) y clínicos (clasificación del padecimiento por sexo, estructura y lado de afectación; clasificación de las cirugías y orden en que se efectuó el procedimiento) de la población considerada. Conclusiones: Los resultados del estudio mostraron la necesidad de estandarizar el registro de datos en expedientes para mejorar el seguimiento y tratamiento de los pacientes y enfatizar en acciones preventivas que permitan mantener la baja incidencia del labio paladar hendido en Querétaro.

Abstract: Background: One of the most common congenital disorders that affects the facial structures is the cleft lip palate (CLP). The aim of this study was to generate the clinical-epidemiological profile of CLP patients from Hospital de Especialidades del Niño y la Mujer (HENM) Dr. Felipe Nuñez Lara, from the Ministry of Health, Queretaro, Mexico, from 2011 to 2014, who received treatment from the Cleft Lip Palate Clinic in order to provide interdisciplinary treatments for CLP patients based on the information from the pediatric records. Methods: Retrospective, cross-sectional, observational study using univariate analysis frequencies for qualitative variables; central statistical and dispersion for quantitative variables and clinical profile. One hundred records were reviewed, from which 15 were discarded for being syndromic cases. Epidemiological, clinical, and socio-demographic variables were studied. Results: The epidemiological profile (variables associated with mother's pregnancy, patient's health at birth, nutritional and psychomotor development; family medical records, addictions, and socioeconomic factors) and clinical profile (disease classification by sex, structure, and side; surgeries classification and order in which they took place) of the treated population were registered. Conclusions: The results showed the need to standardize the data registration on medical records to improve the monitoring and treatment of patients and emphasize actions to maintain low incidence of CLP in Queretaro.

Paciente con síndrome oro-facio-digital tipo II. Reporte del caso / Paciente com síndrome oral-facial-digital tipo II. Reporte do caso / Oro-facial-digital syndrome type II. Report of the case

El síndrome oro-facio-digital (OFD) es un trastorno raro del desarrollo embrionario, cuya incidencia en la población general fluctúa entre menos de 1/1 000 000 y 1/250 000 nacidos vivos. Los pacientes suelen presentar complicaciones del desarrollo de la boca, la cara, las manos y los pies. Hasta el momento se desconoce la mayoría de los genes implicados por lo que el diagnóstico es clínico. Se presenta el caso de un paciente en edad escolar con alteraciones orales, faciales, digitales y auditivas compatibles con el síndrome OFD; por sus características fenotípicas se hizo el diagnóstico de la variante tipo II. La discusión se basa en los criterios para las variantes del síndrome.

Oro-facial-digital syndrome (OFD) is a rare congenital disorder. Its incidence in the general population ranges from less than 1/1.000.000 to 1/250.000 living births. Patients usually present developmental disorders that affect the mouth, face, hands and feet. So far, most of the genes involved are unknown, so diagnosis is clinical. We report the case of a child with oral, facial, and digital alterations, and hearing impairment suggestive of the OFD syndrome. Phenotype was consistent with the type II variant. Discussion is based on the criteria for variants of the syndrome.

A síndrome oral-facial-digital (OFD) é um transtorno raro do desenvolvimento embrionário, cuja incidência na população geral flutua entre menos de 1/1 000 000 e 1/250 000 nascidos vivos. Os pacientes normalmente apresentam complicações do desenvolvimento da boca, a face, as manas e os pies. Até o momento se desconhece a maioria dos genes implicados pelo que o diagnóstico é clínico. Se apresenta o caso de um paciente em idade escolar com alterações orais, faciais, digitais e auditivas compatíveis com a síndrome OFD; por suas características fenotípicas se fez o diagnóstico da variante tipa II. A discussão se baseia nos critérios para as variantes da síndrome.

Rehabilitación protésica en pacientes fisurados con fístula buconasal / Prosthetic rehabilitation in patients with cleft lip and buconasal fistula

La fisura labiopalatina consiste en la falta de fusión de los procesos palatinos y labial durante el desarrollo embrionario. Estos pacientes presentan una comunicación buconasal, alteraciones dentarias de forma, tamaño y posición, y un deficiente desarrollo del maxilar. Su tratamiento requiere un trabajo de equipo multidisciplinar, ya que afecta funciones básicas que comprometen su calidad de vida, como comer, hablar o relacionarse socialmente. Aunque la cirugía primaria soluciona mayormente esta anomalía, algunas veces persiste la comunicación entre las cavidades bucal y nasal, lo que se conoce como comunicación o fístula buconasal. Esto supone una mayor dificultad en el cierre quirúrgico, siendo a veces imposible de cerrar a través de la cirugía. En tales casos, la obturación de dicha fístula a través de una prótesis otorga una solución de bajo costo para el paciente y con resultados óptimos a corto y mediano plazo. El objetivo de este artículo es exponer casos de rehabilitación protésica en pacientes con fisura labiopalatina y fístula buconasal posterior al tratamiento quirúrgico.

Cleft lip and palate is the lack of fusion of the palatal and labial processes during embryonic development. Patients are characterised by the presence of buconasal communication, dental alterations, and poor development of the maxilla. Treatment requires multidisciplinary team work, due to the impact on basic functions such as eating, talking or interacting with other people, and even compromising their quality of life. Although primary surgery mostly solves this anomaly, sometimes communication between the oral and nasal cavity persists (called communication or buconasal fistula). This leads to greater difficulty to surgically close it, being impossible in some cases. In these cases, the closure using a prosthesis provides a low-cost solution for the patient, with an optimal result in the short and medium term. The aim of this article is to present cases of prosthetic rehabilitation in patients with cleft lip and buconasal fistula after surgical treatment.

Three-dimensional Digital Evaluation of Dental Arches in Infants with Cleft Lip and/or Palate

The aim of this study was to measure and compare the dimensions of the dental arches on three-dimensional digital study models in children with and without cleft lip and palate before the primary surgery. The sample consisted of 223 digital models of children aged 3-9 months, divided into 5 groups: without craniofacial deformities, unilateral and bilateral incomplete cleft lip and alveolus, unilateral and bilateral complete cleft lip and alveolus, unilateral cleft lip and palate, and bilateral cleft lip and palate. Dental casts of the maxillary dental arches of the children were used. The dental casts underwent a process of scanning through 3D scanner and the measurements used for the correlation among groups were made on the scanned images. Statistical analysis was performed by t test and ANOVA followed by Tukey test. The results showed that the intercanine distance and anterior cleft width was wider in children with unilateral cleft lip and palate. The intertuberosity distances and posterior cleft width was wider in children with bilateral cleft lip and palate among the groups. Children with cleft lip and palate before the primary surgery had wider maxillary arch dimensions than the children without cleft lip and palate.

O propósito deste trabalho foi mensurar e comparar as dimensões dos arcos dentários em modelos digitais tridimensionais de crianças com ou sem fissuras de lábio e palato antes das cirurgias primárias. A amostra foi composta de 223 modelos de gesso de crianças, de 3 a 9 meses, divididas em 5 grupos: sem deformidades craniofaciais, fissura pré-forame incompleta, fissura pré-forame completa, fissura transforame unilateral e fissura transforame bilateral. Modelos de gesso dos arcos dentários superiores das crianças foram utilizados para avaliação. Os modelos passaram por um processo de digitalização, por meio de escâner 3D e as medidas utilizadas para a correlação entre os grupos foram realizadas diretamente nas imagens escaneadas. A análise estatística foi realizada por meio do teste t e ANOVA seguido pelo teste de Tukey. Os resultados mostraram que a distância intercaninos e a amplitude anterior da fissura foram maiores nas crianças com fissura transforame unilateral. A distância intertuberosidades e a amplitude posterior da fissura foi maior nas com fissura transforame bilateral entre os grupos estudados. As crianças com fissura de lábio e palato apresentam as dimensões dos arcos maxilares maiores que as crianças sem fissura labiopalatina antes das cirurgias primárias.

Parental Pesticidal Exposure and Risk of Clefts in the Craniofacial Region: A Case-Control Study in South India.

Objective: The multifactorial etiology of cleft can be due to environmental factors or genetic factors or combination of both. Many studies were conducted to detect the epidemiology of the clefts and the genetic factors causing clefts. There is no or very less studies conducted in India to identify the risk of pesticidal exposure in occurrence of nonsyndromic clefts. The present study is to investigate the risk of parental pesticidal exposure in causing clefts in the craniofacial region. Methods: The case-control study included 179 cases of cleft in the craniofacial region and 200 healthy controls matched for age and gender. The data were collected in the proforma from the study group in the departments of plastic surgery, Obstetrics and Gynaecology, and Paediatrics of Vydehi Institute of Medical Sciences and Research Centre. Result: Majority (55.3%) of the parents from the cleft group were exposed to pesticides but only 4.5% parents of the control group were exposed which is statistically significant (p=0.001). Compared to other cleft group, more parents of cleft lip palate exposed to pesticides was also significant (p=0.041).The cleft cases which were exposed to pesticides (86%) were from the rural area and the controls which were not exposed (79%) were from the urban area and is statistically significant (p<0.001). Conclusion: Parental pesticidal exposure is a risk factor for clefts in the craniofacial region. Among all the clefts, the risk is increased for the cleft lip palate.

Common Dental Anomalies in Cleft Lip and Palate Patients

Background: Cleft lip and palate (CLP) is the most common orofacial congenital malformation in live births. CLP can occur individually or in combination with other congenital deformities. Affected patients experience a number of dental, aesthetic, speech, hearing, and psychological complications and have a higher incidence of severe dental conditions. The purpose of this study is to characterise the different types of dental anomalies that are frequently associated with CLP patients based on a literature survey. Methods: By literature survey, this study characterises the different types of dental anomalies that are frequently associated with cleft lip and palate patients. Results: Common dental anomalies associated with CLP are supernumerary tooth, congenitally missing tooth, delayed tooth development, morphological anomalies in both deciduous and permanent dentition, delayed eruption of permanent maxillary incisors, microdontia, and abnormal tooth number. Conclusion: The incidence of certain dental anomalies is strongly correlated with Cleft lip and palate, a finding that is consistent with previous studies.

Triagem de mutações e polimorfismos de genes candidatos à malformação dentária em pacientes com fissura labiopalatinas / Screening of mutations and polymorphisms of candidate genes to dental malformation in patients with cleft lip and palate

O propósito deste trabalho foi investigar a ocorrência de mutações e polimorfismos em genes candidatos aos defeitos na formação do esmalte dentário em indivíduos com fissura labiopalatina (FLP) transforame incisivo unilateral ou bilateral isolada e associar o genótipo-fenótipo dos indivíduos com FLP e malformação dentária (MD) nos dentes incisivos centrais superiores permanentes. Foram coletadas amostras de saliva de 165 indivíduos de 6 a 15 anos de idade, de ambos os sexos, divididos em 4 grupos de estudo: Grupo 1 - 46 indivíduos com FLP e MD; Grupo 2 - 34 indivíduos com FLP e sem MD; Grupo 3 - 34 indivíduos sem FLP e com MD; Grupo 4 - 51 indivíduos sem FLP e MD. Foi realizada a extração do DNA genômico das amostras de saliva, seguida da Reação em Cadeia da Polimerase, sequenciamento direto dos éxons 2, 3, 4, 5, 6 e 7 do gene AMELX e genotipagem dos SNPs rs3796703, rs3796704, rs3796705, rs7671281, rs2609428 e rs35951442 no gene ENAM. Para a análise estatística dos resultados foi utilizado o Teste Exato de Fisher e o Teste do Qui-quadrado de Pearson. Em relação ao sequenciamento direto do gene AMELX, mutações foram encontradas em 30,4% (n=14), 35,3% (n=12), 11,8% (n=4) e 13,7% (n=7) dos indivíduos dos Grupos 1, 2, 3 e 4, respectivamente. Trinta e sete mutações foram detectadas e distribuídas ao longo dos éxons 2 (1 mutação - 2,7%), 6 (30 mutações - 81,08%) e 7 (6 mutações - 16,22%) do gene AMELX. Houve um aumento significativo (p=0,003) na frequência de mutações nos indivíduos com FLP (Grupos 1 e 2 - 65,7%) em relação aos indivíduos sem FLP (Grupos 3 e 4 - 25,5%). Em relação às 30 mutações encontradas no éxon 6, 43,34% (n=13), 23,33% (n=7), 13,33% (n=4) e 20% (n=6) foram encontrados nos Grupos 1, 2, 3 e 4, respectivamente. A mutação silenciosa c.261C>T (rs2106416) foi detectada em 26 indivíduos distribuídos nos quatro grupos estudados, sendo significativamente mais encontrada (p=0,003) nos grupos com FLP (23,75%), em comparação com os...

The purpose of this study was to investigate the occurrence of mutations and polymorphisms (SNPs) in candidate genes to defects in the formation of enamel in individuals with cleft lip and palate (CLP) unilateral or bilateral incisive transforame isolated and associate genotype-phenotype of individuals with CLP and dental malformation (DM) in permanent teeth maxillary central incisors. For analysis of the proposed genes, saliva samples from 165 individuals from 6 to 15 years old, of both genders, were collected and divided into 4 groups: Group 1 - 46 individuals with CLP and DM; Group 2 - 34 individuals with CLP and without DM; Group 3 - 34 subjects without CLP and DM; Group 4 - 51 subjects without CLP and DM. Extraction of genomic DNA from saliva samples was performed, followed by Polymerase Chain Reaction, direct sequencing of 2, 3, 4, 5, 6 and 7 exons of AMELX gene and genotyping of SNPs rs3796703, rs3796704, rs3796705, rs7671281, rs2609428 and rs35951442 in the ENAM gene. For statistical analysis we used the Fisher's exact test and Pearson's chi-square test. Regarding direct sequencing of AMELX gene, mutations were found in 30.4% (n=14), 35.3% (n=12), 11.8% (n=4) and 13.7% (n=7) of individuals in Groups 1, 2, 3 and 4, respectively. Thirty-seven mutations were detected and distributed over the exons 2 (1 mutation - 2.7%), 6 (30 mutations - 81.08%) and 7 (6 mutations - 16.22%) of AMELX gene. There was a significant increase (p=0.003) in the frequency of mutations in individuals with CLP (Groups 1 and 2 - 65.7%) compared to subjects without CLP (Groups 3 and 4 - 25.5%). Regarding 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. The c.261C>T silent mutation (rs2106416) was detected in 26 individuals distributed in all groups studied, and was significantly more found (p=0.003) in the groups with CLP (23.75%) compared to the groups without CLP (8.23%). In groups without...

Triagem de mutações e polimorfismos de genes candidatos à malformação dentária em pacientes com fissura labiopalatinas / Screening of mutations and polymorphisms of candidate genes to dental malformation in patients with cleft lip and palate

O propósito deste trabalho foi investigar a ocorrência de mutações e polimorfismos em genes candidatos aos defeitos na formação do esmalte dentário em indivíduos com fissura labiopalatina (FLP) transforame incisivo unilateral ou bilateral isolada e associar o genótipo-fenótipo dos indivíduos com FLP e malformação dentária (MD) nos dentes incisivos centrais superiores permanentes. Foram coletadas amostras de saliva de 165 indivíduos de 6 a 15 anos de idade, de ambos os sexos, divididos em 4 grupos de estudo: Grupo 1 - 46 indivíduos com FLP e MD; Grupo 2 - 34 indivíduos com FLP e sem MD; Grupo 3 - 34 indivíduos sem FLP e com MD; Grupo 4 - 51 indivíduos sem FLP e MD. Foi realizada a extração do DNA genômico das amostras de saliva, seguida da Reação em Cadeia da Polimerase, sequenciamento direto dos éxons 2, 3, 4, 5, 6 e 7 do gene AMELX e genotipagem dos SNPs rs3796703, rs3796704, rs3796705, rs7671281, rs2609428 e rs35951442 no gene ENAM. Para a análise estatística dos resultados foi utilizado o Teste Exato de Fisher e o Teste do Qui-quadrado de Pearson. Em relação ao sequenciamento direto do gene AMELX, mutações foram encontradas em 30,4% (n=14), 35,3% (n=12), 11,8% (n=4) e 13,7% (n=7) dos indivíduos dos Grupos 1, 2, 3 e 4, respectivamente. Trinta e sete mutações foram detectadas e distribuídas ao longo dos éxons 2 (1 mutação - 2,7%), 6 (30 mutações - 81,08%) e 7 (6 mutações - 16,22%) do gene AMELX. Houve um aumento significativo (p=0,003) na frequência de mutações nos indivíduos com FLP (Grupos 1 e 2 - 65,7%) em relação aos indivíduos sem FLP (Grupos 3 e 4 - 25,5%). Em relação às 30 mutações encontradas no éxon 6, 43,34% (n=13), 23,33% (n=7), 13,33% (n=4) e 20% (n=6) foram encontrados nos Grupos 1, 2, 3 e 4, respectivamente. A mutação silenciosa c.261C>T (rs2106416) foi detectada em 26 indivíduos distribuídos nos quatro grupos estudados, sendo significativamente mais encontrada (p=0,003) nos grupos com FLP (23,75%)...

The purpose of this study was to investigate the occurrence of mutations and polymorphisms (SNPs) in candidate genes to defects in the formation of enamel in individuals with cleft lip and palate (CLP) unilateral or bilateral incisive transforame isolated and associate genotype-phenotype of individuals with CLP and dental malformation (DM) in permanent teeth maxillary central incisors. For analysis of the proposed genes, saliva samples from 165 individuals from 6 to 15 years old, of both genders, were collected and divided into 4 groups: Group 1 - 46 individuals with CLP and DM; Group 2 - 34 individuals with CLP and without DM; Group 3 - 34 subjects without CLP and DM; Group 4 - 51 subjects without CLP and DM. Extraction of genomic DNA from saliva samples was performed, followed by Polymerase Chain Reaction, direct sequencing of 2, 3, 4, 5, 6 and 7 exons of AMELX gene and genotyping of SNPs rs3796703, rs3796704, rs3796705, rs7671281, rs2609428 and rs35951442 in the ENAM gene. For statistical analysis we used the Fisher's exact test and Pearson's chi-square test. Regarding direct sequencing of AMELX gene, mutations were found in 30.4% (n=14), 35.3% (n=12), 11.8% (n=4) and 13.7% (n=7) of individuals in Groups 1, 2, 3 and 4, respectively. Thirty-seven mutations were detected and distributed over the exons 2 (1 mutation - 2.7%), 6 (30 mutations - 81.08%) and 7 (6 mutations - 16.22%) of AMELX gene. There was a significant increase (p=0.003) in the frequency of mutations in individuals with CLP (Groups 1 and 2 - 65.7%) compared to subjects without CLP (Groups 3 and 4 - 25.5%). Regarding 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. The c.261C>T silent mutation (rs2106416) was detected in 26 individuals distributed in all groups studied, and was significantly more found (p=0.003) in the groups with CLP (23.75%) compared to the groups without CLP (8.23%). In groups without...

Adherencia al tratamiento del paciente con fisura labio-palatina (FLAP) 2006 - 2013 / Adherence to treatment of patients with cleft lip palate (FLAP) 2006-2013

Las Fisuras Labio Palatinas son anomalías congénitas que consisten en una hendidura o separación en el labio superior. Se presentan, frecuentemente, acompañadas de paladar hendido. El presente trabajo tiene por objetivo estudiar la complejidad y grado de adherencia, estudiando el grado de abandono en la rehabilitación del paciente FLAP que concurre a instituciones o servicios adheridos a la Red de Servicios / Instituciones de la Argentina. De un total de 749 pacientes fueron contactados aquellos con más de 200 días de inasistencia al servicio en un total de 162 (21,6%), de los cuales 55 (11,4%) manifestó abandono de tratamiento. El 46,8% de los pacientes no cuentan con cobertura por obra social / prepaga o mutual. El 18,2% posee certificado de discapacidad. El 47,8% de los pacientes requieren entre 1 a 2 horas de traslado para su atención, y el 27,3% más de 2 horas, a lo que se debe sumar los tiempos de espera en las instituciones. Del análisis de las variables seleccionadas se podría estimar que la edad, severidad de la lesión, número de convivientes en el domicilio y ausencia de certificado de discapacidad podrían ser utilizados como indicadores de posible abandono en el tratamiento.

Cleft lip palate is a congenital anomaly consisting of a crack or separation in the upper lip. It is often accompanied by cleft palate. The aims of the study it is to analyze the complexity and degree of rehabilitation adhesion, by abandonment analysis, of the FLAP patient who attends institutions or services belonging to the network of services / institutions in Argentina. A total of 749 patients were contacted those with more than 200 days of absenteeism to the service in a total of 162 (21,6%), of which 55 (11,4%) said abandonment of treatment. 46,8% of patients do not have coverage for work social/insurance/mutual. 18,2% possesses a certificate of disability. 47,8% of patients require between 1-2 hours of transfer for your attention, and 27,3% more than 2 hours, what to add the waiting time at the institutions. Analysis of selected variables you could estimate that the age, severity of injury, number of cohabitants in the domicile and absence of disability certificate could be used as indicators of possible abandonment in the treatment.