invdup(8)(8q24.13q24.3)-A Complex Alteration and Its Clinical Consequences.

Structural variation is a source of genetic variation that, in some cases, may trigger pathogenicity. Here, we describe two cases, a mother and son, with the same partial inverted duplication of the long arm of chromosome 8 [invdup(8)(q24.21q24.21)] of 17.18 Mb, showing different clinical manifestations: microcephaly, dorsal hypertrichosis, seizures and neuropsychomotor development delay in the child, and a cleft lip/palate, down-slanted palpebral fissures and learning disabilities in the mother. The deleterious outcome, in general, is reflected by the gain or loss of genetic material. However, discrepancies among the clinical manifestations raise some concerns about the genomic configuration within the chromosome and other genetic modifiers. With that in mind, we also performed a literature review of research published in the last 20 years about the duplication of the same, or close, chromosome region, seeking the elucidation of at least some relevant clinical features.

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.

mir152 hypomethylation as a mechanism for non-syndromic cleft lip and palate.

Non-syndromic cleft lip with or without cleft palate (NSCLP), the most common human craniofacial malformation, is a complex disorder given its genetic heterogeneity and multifactorial component revealed by genetic, epidemiological, and epigenetic findings. Epigenetic variations associated with NSCLP have been identified; however, functional investigation has been limited. Here, we combined a reanalysis of NSCLP methylome data with genetic analysis and used both in vitro and in vivo approaches to dissect the functional effects of epigenetic changes. We found a region in mir152 that is frequently hypomethylated in NSCLP cohorts (21-26%), leading to mir152 overexpression. mir152 overexpression in human neural crest cells led to downregulation of spliceosomal, ribosomal, and adherens junction genes. In vivo analysis using zebrafish embryos revealed that mir152 upregulation leads to craniofacial cartilage impairment. Also, we suggest that zebrafish embryonic hypoxia leads to mir152 upregulation combined with mir152 hypomethylation and also analogous palatal alterations. We therefore propose that mir152 hypomethylation, potentially induced by hypoxia in early development, is a novel and frequent predisposing factor to NSCLP.

Predictors of Complication Following Cleft Lip and Palate Surgery in a Low-Resource Setting: A Prospective Outcomes Study in Nicaragua.

BACKGROUND: Higher rates of postoperative complication following cleft lip or palate repair have been documented in low resource settings, but their causes remain unclear. This study sought to delineate patient, surgeon, and care environment factors in cleft complications in a low-income country. DESIGN: Prospective outcomes study. SETTING: Comprehensive Cleft Care Center. PATIENTS: Candidate patients presenting for cleft lip or palate repair or revision. INTERVENTIONS: Patient anthropometric, nutritional, environmental and peri- and post-operative care factors were collected. Post-operative evaluation occurred at standard 1-week and 2-month postoperative intervals. MAIN OUTCOME MEASURES: Complication was defined as fistula, dehiscence and/or infection. RESULTS: Among 408 patients enrolled, 380 (93%) underwent surgery, of which 208 (55%) underwent lip repair (124) or revision (84), and 178 (47%) underwent palate repair (96) or revision (82). 322 (85%) were evaluated 1 week and 166 (44%) 2 months postoperatively. 50(16%) complications were identified, including: 25(8%) fistulas, 24(7%) dehiscences, 17(5%) infections. Mid-upper arm circumference (MUAC) ≤12.5 cm was associated with dehiscence after primary lip repair (OR = 28, p = 0.02). Leukocytosis ≥11,500 on pre-operative evaluation was associated with dehiscence (OR = 2.51, p = 0.04) or palate revision fistula (OR = 64, p < 0.001). Surgeons who performed fewer previous-year palate repairs had higher likelihood of palate complications, (OR = 3.03, p = 0.01) although there was no difference in complication rate with years of surgeon experience or duration of surgery. CONCLUSIONS: Multiple patient, surgeon, and perioperative factors are associated with higher rates of complication in a low-resource setting, and are potentially modifiable to reduce complications following cleft surgery.

Homozygous deletion of glutathione S-transferase theta 1 and mu 1 increase the risk of non-syndromic oral clefts in a Mexican population.

OBJECTIVE: To investigate whether null variants of Glutathione S-transferase Mu 1 (GSTM1) and GST Theta 1 (GSTT1) in infants and mothers, as well as maternal exposures to environmental factors, contribute to the risk of non-syndromic cleft lip with or without palate (NSCL/P) in a Mexican population. DESIGN: We performed a matched pair case-control study, including 98 cases and 98 controls and their mothers. Sociodemographic information and environmental exposures were collected by a questionnaire. Null variants of GSTM1 and GSTT1 were assessed by multiplex Polymerase Chain Reaction (PCR). Odds ratios (OR) and their 95 % confidence intervals (CI) were calculated to estimate risks. The interaction of genetic variables with smoking and adjusted ORs were evaluated by binary logistic regression. RESULTS: Homozygous null GSTM1 was associated with the risk of NSCL/P when present in mothers (OR = 2.45, 95 % CI 1.23-4.86) or infants (OR = 2.98, 95 % CI 1.45-6.14). A higher risk was also found when children carried the homozygous null GSTT1 (OR = 4.89, 95 % CI 2.42-9.87). In mothers, this variant showed a crude risk of 9.17 (95 % CI 3.95-21.29), which increased to OR = 13.81 (95 % CI 1.63-117.09) upon interaction with frequent passive smoking (5-7 days/week). Sociodemographic and other environmental exposures were not significantly associated with the risk of NSCL/P. CONCLUSIONS: Maternal and infant GSTT1 and GSTM1 homozygous null genotypes were associated with a higher risk of NSCL/P, and the results suggest an interaction of the maternal GSTT1-null/null genotype with frequent passive smoking.

Maternal genotypes of folate/one-carbon metabolism gene variants and nonsyndromic cleft lip with or without cleft palate risk in Chile.

The aim of this study was to evaluate, in a case-control design, the association between maternal genotypes for variants in 23 genes involved in folate/one-carbon metabolism and nonsyndromic cleft lip with or without cleft palate (NSCL/P) in a Chilean population. After applying several filters to an Illumina array, we extracted 175 single nucleotide polymorphisms (SNPs) from 150 mothers of NSCL/P cases and 150 control women. Association was evaluated using computed odds ratio (OR) with a 95% confidence interval (95% CI) in additive, recessive, and dominant models. After multiple comparison correction, only SNP rs4451422 (A>C), located 237 bp downstream of the gene encoding the human folylpolyglutamate synthetase (FPGS), maintained a significant association with NSCL/P in the offspring (OR 3.03; 95% CI 1.69-5.26). The variant rs4451422 is associated with a decrease in FPGS expression according to database annotation. Our results lead to a new hypothesis that a lower activity of FPGS enzyme reduces intracellular folate levels and increases the risk of an offspring having NSCL/P.

Multidisciplinary Approach for Reestablishing Function and Aesthetic of Unilateral Cleft Lip Defect: A Case Report.

Cleft lip and/or cleft palate defects often result in a functional deficiency in the patient's chewing, speech ability, and aesthetic appearance, usually demanding multidisciplinary effort for addressing the aesthetic and functional patient's requirements. This clinical report describes the planned oral rehabilitation of a 46-year-old woman with unilateral cleft lip defect based on the patient's peculiarities and age. Due to limitations concerning bone grafts and implant procedures, as well as orthodontic treatment, the prosthodontic rehabilitation using the metal-ceramic fixed partial denture was chosen. The treatment adequately reestablished the aesthetic and functional activities, positively impacting the patient's quality of life.

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.

Endodontic Retreatment of a Maxillary Central Incisor with Two Root Canals in a Patient with Cleft Lip and Palate.

The failures in endodontic treatments are often related to anatomical variations. Some anatomical changes in anterior teeth occur in patients with cleft lip and palate. This paper aims to report the endodontic retreatment of a maxillary central incisor with two roots and two canals on a patient who presents cleft lip and palate. A male patient, 11-year-old, reported pain when chewing related to the left maxillary central incisor tooth (tooth 21) which featured a sinus tract after primary endodontic treatment. In periapical radiograph, it was observed an alteration on the anatomy of the root on the tooth 21, which featured a radiolucent area on the dental apex and had been properly endodontically treated. In cone-beam computed tomography (CBCT) images the presence of an accessory root in the palatal region was observed, that had not been prepared, or filled. Thus, the non-treated accessory canal was instrumented with the crown-down technique and filled with gutta-percha and endodontic sealer. After 1 year of follow-up, the patient presented the tooth with a normal masticatory function and no painful symptoms. Therefore, it can be concluded that the additional root canals may be present and the CBCT is an important tool to evaluate the internal root morphology. In cleft lip and palate patients, the root canals morphology should be carefully analyzed due to high prevalence of dental anomalies which may influence the success in endodontic treatment.

Extracellular Matrix Composition and Remodeling: Current Perspectives on Secondary Palate Formation, Cleft Lip/Palate, and Palatal Reconstruction.

Craniofacial development comprises a complex process in humans in which failures or disturbances frequently lead to congenital anomalies. Cleft lip with/without palate (CL/P) is a common congenital anomaly that occurs due to variations in craniofacial development genes, and may occur as part of a syndrome, or more commonly in isolated forms (non-syndromic). The etiology of CL/P is multifactorial with genes, environmental factors, and their potential interactions contributing to the condition. Rehabilitation of CL/P patients requires a multidisciplinary team to perform the multiple surgical, dental, and psychological interventions required throughout the patient's life. Despite progress, lip/palatal reconstruction is still a major treatment challenge. Genetic mutations and polymorphisms in several genes, including extracellular matrix (ECM) genes, soluble factors, and enzymes responsible for ECM remodeling (e.g., metalloproteinases), have been suggested to play a role in the etiology of CL/P; hence, these may be considered likely targets for the development of new preventive and/or therapeutic strategies. In this context, investigations are being conducted on new therapeutic approaches based on tissue bioengineering, associating stem cells with biomaterials, signaling molecules, and innovative technologies. In this review, we discuss the role of genes involved in ECM composition and remodeling during secondary palate formation and pathogenesis and genetic etiology of CL/P. We also discuss potential therapeutic approaches using bioactive molecules and principles of tissue bioengineering for state-of-the-art CL/P repair and palatal reconstruction.

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.

Plasma zinc levels in Ecuadorian mothers of infants with nonsyndromic cleft lip with or without cleft palate: A case series.

BACKGROUND: Previous studies have reported an association between maternal zinc deficiency and increased risk of nonsyndromic cleft lip with or without cleft palate (NSCL/P) in offspring. A high prevalence of zinc deficiency and a high prevalence of NSCL/P have been reported in Ecuador. We postulated that mothers of infants with NSCL/P may have lower serum zinc levels than women from the general population. METHODS: A case series study was conducted from November 2013 to July 2016. Thirty-five healthy mothers of infants with NSCL/P were selected during surgical missions conducted by Operación Sonrisa Ecuador. A single blood sample along with pertinent medical history was collected during personal interviews after 3.6 months postpartum. The prevalence of plasma zinc concentration (PZn) deficiency among the participants was determined and analyzed along with the prevalence of PZn deficiency in Ecuadorian women of reproductive age from the general population. RESULTS: The mean PZn was 11.47 µmol/dm3 . The prevalence of PZn deficiency among the participants was 31.4% (95% CI: 17.1-48.6) and differed significantly from the prevalence of zinc deficiency observed among women from the general population (G2 = 8.66; p < .05). CONCLUSIONS: The results showed that the prevalence of PZn deficiency is lower in a cohort of healthy mothers of infants with NSCL/P than in women from the general population in Ecuador. More studies are required to confirm these findings and evaluate other factors related to NSCL/P pathophysiology in the Ecuadorian population.

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.

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

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.

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.

Evaluation of Delayed Puberty in Adolescents With Cleft Lip/Palate.

OBJECTIVE: To assess the frequency of delayed puberty in adolescents with cleft lip and/or cleft palate (CL/P). DESIGN: This was a cross-sectional study of 203 patients with CL/P and no associated syndromes treated at the Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil. We evaluated boys aged 14-19 years and girls aged 13-18 years. The patients were classified according to Tanner stages of sexual development. The age of menarche was recorded. Patients were assigned to three groups according to cleft type: isolated cleft lip (CL), cleft lip and palate (CLP), and isolated cleft palate (CP). The results were expressed as frequencies and averages and compared with pubertal changes described for typically developing adolescents as reported in the literature. RESULTS: Subjects were 115 boys and 88 girls. All boys in the CL group and the CP group had already started puberty, and two boys in the CLP group (2.3%) had delayed puberty. All girls had started puberty. The average age at menarche was 12.3 years in the CL group, 12.1 years in the CLP group, and 12.5 years in the CP group. CONCLUSIONS: The frequency of delayed puberty and the average age at menarche in adolescents with CL/P and no associated genetic syndromes or anomalies were within the expected range for typically developing adolescents (i.e., those without CL/P) in the same age group.

O efeito da moldagem nasoalveolar sobre a assimetria nasal e largura da fissura alveolar: uma revisão da literatura / Efeito do NAM sobre a assimetria nasal e largura da fissura labiopalatina: $b uma revisão da literatura / The effect of nasoalveolar molding on nasal asymmetry and width of the cleft lip and palate: a literature review

As fissuras orofaciais representam a segunda maior causa de anomalias congênitas em nascidos vivos. O tratamento dos pacientes com essas fissuras costuma ser de difícil manejo, sobretudo, quando as lesões são amplas e associadas à extensa deformidade nasolabial. O objetivo da presente revisão de literatura foi avaliar o efeito da moldagem nasoalveolar na assimetria nasal e na largura da fissura alveolar em bebês portadores de fissuras labiopalatinas. Uma pesquisa bibliográfica de cinco bancos de dados eletrônicos obteve 444 artigos sobre moldagem nasoalveolar, dos quais 16 foram ensaios clínicos que incluíam os seguintes critérios: participantes - lactentes portadores de fissura labiopalatina, intervenção - NAM, comparação - outro tratamento ou nenhum tratamento, e desfecho - resultado na assimetria nasal e na largura da fissura alveolar. Dos dezesseis estudos incluídos nesta revisão, onze apresentaram diferença estatisticamente significante em algum desfecho avaliado (simetria nasal ou largura da fissura alveolar). Com isso pode-se concluir que existe um papel significativo da moldagem nasoalveolar pré-cirúrgica no tratamento da fissura labiopalatina.(AU)

Orofacial clefts are the second leading cause of birth defects in live births. Treatment of patients with these clefts often unwieldy, especially when the lesions are large and associated with extensive nasolabial deformity. The aim of the present review was to evaluate the effect of Nasoalveolar Molding on nasal assymmetry and on the width of the alveolar cleft in infants. A literature search of five eletronic databases retrieved 444 articles regarding nasoalveolar molding, 16 of which were clinical trials that includes the following criteria: participants - cleft lip and palate infants, intervention - NAM, comparison - other treatment or no treatment, and outcome - effect on nasal assymmetry and on the width of the alveolar cleft. Of the sixteen studies included in this review, eleven showed a statistically significant difference in any measured outcome (nasal symmetry or width of the alveolar cleft), it can be concluded that there is a significant part of presurgical nasoalveolar molding in the treatment of cleft lip and palate.(AU)