RESUMO
BACKGROUND: Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder with physical, cognitive, and behavioral characteristics that is caused by heterozygous mutations in the TCF4 gene. Patients with PTHS might present a unique challenge for oral healthcare professionals because of the associated comorbidities. CASE REPORT: Here we describe a new case of PTHS in a 13-year-old girl with particular emphasis on oro-dental findings and oral healthcare management. Observed oro-dental findings in our case included shallow palate, absence of lingual frenum, gingival enlargement, thick lips and relative microdontia. The patient was unable to tolerate dental care under local anesthesia. Therefore, comprehensive dental treatment was performed under general anesthesia after a careful pre-anesthetic cardio-respiratory, neurological, and hematological evaluation. The patient was closely monitored intra-operatively for breathing rhythm, O2 saturation, and signs of respiratory distress. The patient was observed for 24 h post-op for respiratory distress and was discharged then uneventfully. CONCLUSION: Dental treatment under general anesthesia in these patients might be complicated by the abnormal breathing rhythm, and close monitoring and follow up for signs of respiratory distress after general anesthesia is necessary. Recognition of oral and dental findings might help to expand the phenotype and better characterize rare syndromes.
Assuntos
Deficiência Intelectual , Fenótipo , Humanos , Feminino , Adolescente , Deficiência Intelectual/genética , Fácies , Fator de Transcrição 4/genética , Anestesia Geral , Anormalidades da Boca/genética , Hiperventilação , Assistência Odontológica para Doentes Crônicos , Freio Lingual/anormalidades , Freio Lingual/cirurgiaRESUMO
Oral causes of dysphagia in infancy may involve the lips, the tongue, or the palate. Whereas ankyloglossia is commonly diagnosed in infants with dysphagia, assessment of the need for surgical intervention may be less straightforward. Tongue size (macroglossia) may be associated with dysphagia as it may cause limitation of movement of the food or milk bolus by the lips or cheeks. Congenital conditions such as cleft lip and palate, micrognathia, or craniofacial microsomia may also be associated with dysphagia. Diagnosis and treatment of these conditions can be improved with the engagement of lactation and feeding experts as well as multidisciplinary craniofacial teams.
Assuntos
Transtornos de Deglutição , Língua , Humanos , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/terapia , Lactente , Língua/fisiopatologia , Criança , Anquiloglossia , Fissura Palatina/complicações , Fissura Palatina/cirurgia , Fenda Labial/complicações , Fenda Labial/cirurgia , Lábio/fisiopatologia , Anormalidades da Boca/cirurgia , Anormalidades da Boca/complicações , Micrognatismo/complicaçõesRESUMO
BACKGROUND: Oro-facial digital(OFD) syndrome is a rare anomaly which is often missed out as just cleft lip and palate.It is an X-linked dominant condition with lethality in males. It however results from the pleotropic effect of a morphogenetic impairment affecting almost invariably the mouth, face and digits and it also includes lower IQ and mental retardation. 14 different variations of these syndrome can be seen with the majority of cases of type 1 and 2 based on characteristic clinical manifestations. CASE REPORT: Present case report describes a 9 year old girl patient who was mis-diagnosed with partial cleft palate and was later diagnosed as orofacial digital syndrome based on the clinical and oral features. CONCLUSION: Not much literature is present regarding this topic and with no relevent family history makes this case a one in a million case of OFD. Therefore, this case report is a complete insight on Oro-facial digital syndrome.
Assuntos
Fenda Labial , Fissura Palatina , Anormalidades da Boca , Síndromes Orofaciodigitais , Masculino , Feminino , Humanos , Criança , Fissura Palatina/diagnóstico , Síndromes Orofaciodigitais/diagnóstico , FaceRESUMO
Ankyloblepharon filiforme adnatum (AFA) is a rare, benign congenital anomaly. Notably, it is characterized by the adhesion of the ciliary edges of the upper and lower eyelids at the trabecular line. AFA is usually a solitary malformation of sporadic occurrence; however, it can occur in conjunction with other congenital diseases. Herein, we report a case of cleft lip with AFA. A patient was referred to the ophthalmology department of our hospital. The ophthalmic diagnosis was AFA in both the eyes. The left eye was observed to have a fibrous adhesion in the center, and she underwent surgery to excise the fibrous adhesion of tissue with scissors. The right eye was observed to have a fibrous adhesion in the external canthus and was excised during lip plasty. After surgery, her eyes were able to fully open, and no other apparent disease was diagnosed. AFA is thought to be caused by an ectodermal-derived developmental abnormality. Notably, cases of AFA with a cleft lip are rare. Diagnosis and surgery should be performed promptly to minimize any risk of amblyopia and for the early detection of congenital diseases, including glaucoma.
Assuntos
Fenda Labial , Fissura Palatina , Anormalidades do Olho , Anormalidades da Boca , Humanos , Feminino , Fenda Labial/cirurgia , Fenda Labial/diagnóstico , Fissura Palatina/cirurgia , Fissura Palatina/diagnóstico , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/cirurgia , Aderências TeciduaisRESUMO
An infant with restricted mouth opening from birth had presented for cleft lip repair. He had an interalveolar gap of 6 mm and was diagnosed as a case of cleft palate lateral synechiae syndrome. Fibreoptic bronchoscope of appropriate size was not available at the time of the procedure, and we had to device an alternative plan. The case describes the common challenges that can arise while anaesthetising infants with this syndrome in a resource-limited setting and highlights the importance of adapting the protocol to the demands.
Assuntos
Anestésicos , Fenda Labial , Fissura Palatina , Anormalidades da Boca , Lactente , Masculino , Humanos , Fissura Palatina/complicações , Fissura Palatina/cirurgia , Aderências Teciduais , Fenda Labial/complicações , Fenda Labial/cirurgiaRESUMO
Objetivo: verificar se a idade das crianças com Trissomia do 21 e o tempo de uso por dia da placa palatina de memória influenciam a adaptação da criança à placa, as mudanças miofuncionais orofaciais percebidas pelos pais e a satisfação da família, após quatro meses de tratamento. Métodos: participaram do estudo14 pais ou responsáveis legais de crianças com Trissomia do 21, com idades de 3 a 20 meses. O tratamento com a placa palatina de memória foi realizado durante quatro meses. A adaptação da criança à placa, as mudanças miofuncionais orofaciais percebidas pelos pais e a satisfação das famílias em relação ao tratamento foram investigadas por meio de questionário elaborado pelos autores da pesquisa e respondido pelas mães após quatro meses de tratamento. Resultados: a média de idade das crianças que participaram do estudo foi 10 meses e o desvio-padrão de 4,9 meses. O resultado do questionário indicou associação entre idade e postura de lábios relatada pelos pais com o uso da placa palatina de memória, sendo que todas as crianças menores de 10 meses mantiveram o selamento labial, de acordo com os pais, durante o uso da placa; bem como entre idade e satisfação com o tratamento, sendo que as mães das crianças menores mostraram-se mais satisfeitas. Conclusão: os resultados do estudo indicam que houve associação entre idade e postura de lábios relatada pelos pais com o uso da placa, bem como entre idade e satisfação com o tratamento e sugerem que o tratamento precoce com a placa palatina de memória beneficia as crianças com Trissomia do 21. (AU)
Purpose: to verify if the age of children with Trisomy 21 and the time of use per day of the stimulating palatal plate influence the child's adaptation to the plate, the orofacial myofunctional changes perceived by the parents, and the family's satisfaction, after four months of treatment. Methods: 14 parents or legal guardians of children with Trisomy 21, aged between 3 and 20 months, participated in the study. Treatment with the stimulating palatal plate was carried out for four months. The child's adaptation to the plate, the orofacial myofunctional changes perceived by the parents, and the families' satisfaction with the treatment were investigated through a questionnaire prepared by the research authors and answered by the mothers after four months of treatment. Results: The mean age of the children who participated in the study was 10 months and the standard deviation was 4.9 months. The results of the questionnaire indicated an association between age and lip posture, reported by parents, during the use of the stimulating palatal plate, and all children under 10 months maintained lip closure, according to the parents, during the use of the plate. Age was also associated with satisfaction with the service, as the mothers of younger children were more satisfied. Conclusion: The study results indicate an association between age and lip posture, reported by the parents, during the use of the plate, and between age and satisfaction with the service. Thus, it suggests that early treatment with the stimulating palatal plate benefits children with Trisomy 21. (AU)
Objetivo: verificar si la edad de los niños con Trisomía 21 y el tiempo de uso por día de la placa palatina de memoria influyen en la adaptación del niño a la placa, los cambios miofuncionales orofaciales percibidos por los padres y la satisfacción de la familia, después de cuatro meses de tratamiento. Métodos: Participaron en el estudio 14 padres o tutores legales de niños con trisomía 21, con edades comprendidas entre los 3 y los 20 meses. El tratamiento con la placa de memoria palatina se llevó a cabo durante cuatro meses. La adaptación del niño al plato, los cambios miofuncionales orofaciales percibidos por los padres y la satisfacción de las familias con el tratamiento fueron investigados a través de un cuestionario elaborado por los autores y respondido por las madres, después de cuatro meses de tratamiento. Resultados: La edad media de los niños que participaron en el estudio fue de 10 meses y la desviación estándar fue de 4,9. El resultado del cuestionario indicó una asociación entre la edad y la postura de los labios, reportada por los padres, con el uso de la placa de memoria palatina, y todos los niños menores de 10 meses mantuvieron el sello de los labios, según los padres, durante el uso de la placa de memoria palatina, así como entre la edad y la satisfacción con el servicio. Las madres de niños más pequeños estaban más satisfechas. Conclusión: Los resultados del estudio indican que hubo asociación entre la edad y la postura de los labios, reportada por los padres, con el uso de la placa, así como entre la edad y la satisfacción con el servicio, y sugieren que el tratamiento temprano con la placa de memoria palatina beneficia a los niños con trisomía 21. (AU)
Assuntos
Humanos , Masculino , Feminino , Lactente , Técnica de Expansão Palatina , Fatores Etários , Satisfação do Paciente , Estudos Transversais , Inquéritos e Questionários , Síndrome de Down , Terapia Miofuncional , Anormalidades da Boca/reabilitaçãoRESUMO
La transposición es el intercambio de la posición de dos dientes adyacentes durante los primeros años de la dentición mixta. El objetivo de la investigación fue evaluar los cambios clínicos de un caso con transposición parcial bilateral de incisivos laterales mandibulares. Se atendió una paciente de 8 años de edad, femenina, de raza blanca, síndrome de Clase II división 1, con transposición de los incisivos laterales con caninos inferiores. Fue tratada con un arco lingual de cierre horizontal, de alambre 0,032 y dos muelles de NiTi comprimidos desde el cierre horizontal del arco hasta una armella soldada a la banda que se colocó en ambos incisivos laterales. Se recuperó el espacio necesario para la erupción de los caninos inferiores y así mejoró la estética dental y facial de la paciente.
Transposition is the exchange of the position of two adjacent teeth during the first years of the mixed dentition. The objective of this research is to evaluate the clinical changes of a case with partial bilateral transposition of mandibular lateral incisors. We present an 8-year-old white female patient with Class II Division 1 malocclusion and transposition of the lateral incisors with lower canines. She was treated with a 0.032 wire horizontal closure lingual arch and two NiTi springs compressed from the horizontal closure of the arch to an eyebolt welded to the band that was placed on both lateral incisors. The necessary space for the eruption of the lower canines was recovered, thus improving her dental and facial aesthetics.
Assuntos
Estética Dentária , Incisivo , Anormalidades da BocaRESUMO
BACKGROUND: This study aimed to explore the relationship between maternal periconceptional supplementation with folic acid only (FAO) or with multiple micronutrients containing folic acid (MMFA) and non-syndromic cleft lip/palate in offspring. METHOD: The data came from a prenatal health care system and a birth defects surveillance system in Beijing, China, from 2013 to 2018. Information on maternal FAO/MMFA supplementation was collected by questionnaire in the first trimester, and data on cleft lip/palate were collected at delivery or termination of pregnancy. Inverse probability weighting (IPW) by the propensity score to adjust for the confounders and Poisson regression model was used to estimate risk ratios (RRs) and their 95% confidence intervals (CIs). RESULTS: A total of 63,969 participants were included in the study. Compared to the no-supplementation group, the adjusted RR for the supplementation group was 0.51 (95% CI: 0.40, 0.64). And the adjusted RRs for FAO and MMFA compared to the no-supplementation group were 0.56 (95% CI: 0.40, 0.76) and 0.48 (95% CI: 0.35, 0.65), respectively. Compared to supplement FAO and MMFA with less than 8 days out of 10 days, the adjusted RRs for FAO and MMFA with 8 or more days out of 10 days were 1.17 (95% CI: 0.78, 1.75), and 2.05 (95% CI: 1.37, 3.31), respectively. CONCLUSION: Maternal supplementation with micronutrients, either FAO or MMFA, during the periconceptional period can reduce the risk for non-syndromic cleft lip/palate in offspring. However, women should be more cautious with MMFA supplementation.
Assuntos
Fenda Labial , Fissura Palatina , Anormalidades da Boca , Gravidez , Humanos , Feminino , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Fatores de Risco , Ácido Fólico , MicronutrientesRESUMO
Congenital syngnathia is a rarely reported malformation when there is a fusion between the maxilla and the mandible. It is necessary to modify it in childhood because congenital syngnathia causes incongruity in pronunciation, diet, and esthetics during the growth process. In this case report, 1 case of syngnathia, a rare craniofacial anomaly, is presented with a review of reports. Prompt diagnosis and surgery were performed right after birth for the present case. A partial limitation point was resolved for further growth. Herein, the authors present the case of a female infant (7 d after birth) diagnosed with congenital syngnathia and treated by early surgical intervention.
Assuntos
Anormalidades Maxilomandibulares , Anormalidades da Boca , Lactente , Humanos , Feminino , Estética Dentária , Anormalidades Maxilomandibulares/diagnóstico , Anormalidades Maxilomandibulares/cirurgia , Mandíbula/cirurgia , Anormalidades da Boca/cirurgia , Maxila/cirurgia , Maxila/anormalidadesRESUMO
Coronoid process hyperplasia (CPH) is an oral and maxillofacial surgical disease that can result in restricted jaw movement due to an enlarged and elongated mandibular coronoid process. It is characterized by the painless progressive restriction of unilaterally or bilaterally mouth opening. Clinically, unexplained bilateral CPH is less common and therefore often overlooked or misdiagnosed, and coronoidectomy can be very effective on improving mouth opening. Currently, the exact etiology and mechanism of congenital CPH have not yet been fully understood, but it is generally believed to be genetically related. In this paper, the relationship of the congenital mandibular CPH with the related diseases was examined based on cases collected in our clinic and literature review for the clinical diagnosis and treatment of patients with restricted mouth opening associated with CPH.
Assuntos
Anormalidades Maxilomandibulares , Má Oclusão , Doenças Mandibulares , Anormalidades da Boca , Humanos , Mandíbula/diagnóstico por imagem , Mandíbula/cirurgia , Mandíbula/anormalidades , Hiperplasia/patologia , Osteotomia Mandibular , Tomografia Computadorizada por Raios X , Doenças Mandibulares/cirurgiaRESUMO
Cleft palate-lateral synechiae syndrome (CPLSS) is an extremely rare congenital malformation syndrome with undetermined etiology, characterized by a cleft palate and lateral intraoral synechiae linking the free borders of the palate to the mouth floor. We report a case of a female neonate, admitted for suckling difficulties with a cleft lip and palate associated to multiple lateral intraoral synechiae. Resection of the synechiae allowed oral feeding. Cleft palate-lateral synechiae syndrome is an exceptional syndrome as only seventeen cases have been reported in the literature. Synechiae can be isolated or more frequently in association with other congenital anomalies such as cleft lip and/or palate. These synechiae can cause functional deficits, especially in the respiratory and feeding tracts, language disorders or recurrent otitis. Although it is exceptional, this malformative entity must be known by medical practitioners in order to set up a well-adapted therapeutic protocol.
Assuntos
Fenda Labial , Fissura Palatina , Doenças da Íris , Anormalidades Maxilomandibulares , Anormalidades da Boca , Recém-Nascido , Feminino , Humanos , Fissura Palatina/diagnóstico , Fissura Palatina/cirurgia , Fissura Palatina/complicações , Fenda Labial/diagnóstico , Fenda Labial/cirurgia , Anormalidades da Boca/complicações , Anormalidades da Boca/cirurgia , Anormalidades Maxilomandibulares/complicações , Aderências Teciduais/complicaçõesRESUMO
PURPOSE: To investigate oral and dental late effects in survivors of childhood brain tumors medulloblastoma (MB) and central nervous system supratentorial primitive neuroectodermal tumor (CNS-PNET). METHODS: This cross-sectional study assessed oral and dental late effects in MB/CNS-PNET survivors treated before 20 years of age, and with a minimum of 2 years since treatment. Participants went through an oral and radiographic examination. We assessed oral status using the decayed-missing-filled index (DMFT), oral dryness, maximum mouth opening (MMO), fungal infection, and registration of dental developmental disturbances (DDD) in the form of hypodontia, microdontia, and enamel hypoplasia. RESULTS: The 46 participants' mean age at enrolment was 27 ± 12.8 years and at treatment 8.5 ± 5.2 years, and the mean time since treatment was 18.9 ± 12 years. Over a third (35%) of survivors had reduced mouth opening (mean 29.3 ± 5.6 mm (range 16-35)). A significantly lower MMO was found in individuals treated ≤ 5 years compared to survivors treated > 5 years (p = 0.021). One or more DDD were registered in 30.4% of the survivors, with a significantly higher prevalence in individuals treated ≤ 5 years (p < 0.001). Hypodontia was the most prevalent type of DDD. There was no difference in DMFT score in relation to age at treatment. Oral dryness was not frequently reported or observed in these survivors. CONCLUSION: Survivors of childhood MB/CNS-PNET are at risk of oral and dental late effects including reduced mouth opening and DDD. The risk is highest in survivors treated before the age of 5.
Assuntos
Anodontia , Neoplasias Encefálicas , Cárie Dentária , Anormalidades da Boca , Tumores Neuroectodérmicos Primitivos , Humanos , Estudos Transversais , Sobreviventes , Tumores Neuroectodérmicos Primitivos/patologia , Neoplasias Encefálicas/epidemiologia , Neoplasias Encefálicas/terapia , PrevalênciaRESUMO
OBJECTIVE: The goal of this study was to evaluate the prevalence of orofacial clefts (OFCs) in Tennessee over the span of 2000-2017, and evaluate the effects of race/ethnicity, sex, maternal/paternal age and socioeconomic status on the prevalence. METHODS: Records of all live births and demographics of newborns in Tennessee from 2000 to 2017 were requested from the Tennessee Department of Health to calculate the prevalence of OFCs. Data from United States Census was also obtained. Data provided were deidentified. RESULTS: Tennessee showed a significant decrease in prevalence rates of cleft lip, with and without cleft palate (CL ± P), when comparing the time periods of 2000-2007 to 2008-2017. A significant positive correlation was found with CL ± P prevalence rates in regions with higher Caucasian populations and a negative correlation in regions with higher African American populations. The CP prevalence rates showed a negative correlation with increased median household income. CONCLUSION: To our knowledge, this is the first study to show a significant negative correlation with median household income and CP prevalence rates. Our study showing an increase in prevalence rates of OFCs with decreased socioeconomic status indicates that the areas of Tennessee with the lowest median household income averages would likely benefit from understanding other possible modifiable factors that are driving this correlation.
Assuntos
Fenda Labial , Fissura Palatina , Anormalidades da Boca , Humanos , Recém-Nascido , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Tennessee/epidemiologia , PrevalênciaRESUMO
The authors report the case of a 10-month-old child with total oral duplication. The authors review this pathology and the diagnostic and treatment modality through the few cases described in scientific history. The discussed etiopathogeny of this rare malformation is detailed in this work.
Assuntos
Anormalidades da Boca , Boca , Humanos , LactenteRESUMO
BACKGROUND: Asymmetries in craniofacial anomalies are commonly observed. In the facial skeleton, the left side is more commonly and/or severely affected than the right. Such asymmetries complicate treatment options. Mechanisms underlying variation in disease severity between individuals as well as within individuals (asymmetries) are still relatively unknown. RESULTS: Developmental reductions in fibroblast growth factor 8 (Fgf8) have a dosage dependent effect on jaw size, shape, and symmetry. Further, Fgf8 mutants have directionally asymmetric jaws with the left side being more affected than the right. Defects in lower jaw development begin with disruption to Meckel's cartilage, which is discontinuous. All skeletal elements associated with the proximal condensation are dysmorphic, exemplified by a malformed and misoriented malleus. At later stages, Fgf8 mutants exhibit syngnathia, which falls into two broad categories: bony fusion of the maxillary and mandibular alveolar ridges and zygomatico-mandibular fusion. All of these morphological defects exhibit both inter- and intra-specimen variation. CONCLUSIONS: We hypothesize that these asymmetries are linked to heart development resulting in higher levels of Fgf8 on the right side of the face, which may buffer the right side to developmental perturbations. This mouse model may facilitate future investigations of mechanisms underlying human syngnathia and facial asymmetry.
Assuntos
Região Branquial , Coração , Animais , Fator 8 de Crescimento de Fibroblasto/genética , Humanos , Anormalidades Maxilomandibulares , Maxila , Camundongos , Anormalidades da BocaRESUMO
A 10-month-old girl who had tetra-amelia syndrome and congenital maxillomandibular fusion (syngnathia) was scheduled for the surgical fusion separation. Anesthetic management for this case was considerably challenging. Standard monitoring was still applied to the patient's extremities. IV access was suspected to be difficult but firmly needed before intubation to provide resuscitation during an emergency. Connecting anesthetic circuit with nasopharyngeal airway was the preferred technique due to its benefits such as maintaining spontaneous ventilation, providing inhaled anesthetic, as well as monitoring oxygenation and ventilation. Importantly, the cornerstones for handling such complicated cases are multidisciplinary approach and teamwork.
Assuntos
Anestésicos , Ectromelia , Anormalidades Maxilomandibulares , Anormalidades da Boca , Ectromelia/complicações , Ectromelia/cirurgia , Feminino , Humanos , Lactente , Anormalidades Maxilomandibulares/complicações , Anormalidades Maxilomandibulares/cirurgia , Anormalidades da Boca/complicaçõesRESUMO
Cleft palate lateral synechia (CPLS) syndrome is an extremely rare congenital malformation syndrome of unknown origin, characterized by the association of cleft palate and one or more intraoral lateral synechiae (OMIM # 119550). Fewer than 20 cases have been described to date. The clinical and histological findings and results of genetic investigations for two additional cases of CPLS are presented herein, in order to better delineate this syndrome, within the context of the relevant literature. The first case presented with a U-shaped cleft palate, bilateral synechiae, and Pierre Robin sequence, requiring early sectioning of the synechiae because of severe feeding problems. The second case presented with a V-shaped cleft palate and a single synechia, running from the left border of the cleft to the floor of the mouth, and was without feeding difficulties. In both cases, histopathological examination of the synechiae revealed an aspect of mucous membranes macroscopically, while staining of sections indicated lymphocyte infiltrates and parakeratosis with stratified squamous epithelium, associated with vessel and connective tissue abnormalities. Sequencing of candidate genes did not identify a genetic cause. Accurate clinical descriptions, histopathological diagnosis, and genetic investigations of patients with synechiae are lacking in the literature. Better characterization of future cases of CPLS will give new insights into its developmental causes.
Assuntos
Anormalidades Múltiplas , Fissura Palatina , Anormalidades Maxilomandibulares , Anormalidades da Boca , Síndrome de Pierre Robin , Fissura Palatina/complicações , Fissura Palatina/genética , Fissura Palatina/cirurgia , Humanos , Anormalidades da Boca/diagnóstico , Síndrome de Pierre Robin/complicações , Aderências Teciduais/congênitoRESUMO
OBJECTIVE: To investigate 2- to 5-way patterns of defects co-occurring with orofacial clefts using data from a population-based registry. DESIGN: We used data from the Texas Birth Defects Registry for deliveries between 1999 and 2014 to Texas residents, including 1884 cases with cleft palate (CP) and 5289 cases with cleft lip with or without cleft palate (CL±P) without a known syndrome. We identified patterns of defects co-occurring with CP and with CL±P observed more frequently than would be expected if these defects occurred independently. We calculated adjusted observed-to-expected (O/E) ratios to account for the known tendency of birth defects to cluster nonspecifically. RESULTS: Among infants without a syndrome, 23% with CP and 21% with CL±P had at least 1 additional congenital anomaly. Several combinations of defects were observed much more often than expected. For example, the combination of CL±P, congenital hydrocephaly, anophthalmia, and other nose anomalies had an O/E ratio of 605. For both CP and CL±P, co-occurrence patterns with the highest O/E ratios involved craniofacial and brain abnormalities, and many included the skeletal, cardiovascular, and renal systems. CONCLUSIONS: The patterns of defects we observed co-occurring with clefts more often than expected may help improve our understanding of the relationships between multiple defects. Further work to better understand some of the top defect combinations could reveal new phenotypic subgroups and increase our knowledge of the developmental mechanisms that underlie the respective defects.
Assuntos
Fenda Labial , Fissura Palatina , Anormalidades da Boca , Fenda Labial/epidemiologia , Fissura Palatina/epidemiologia , Humanos , Lactente , SíndromeRESUMO
FREM2 is a member of the FREM2-FRAS1-FREM1 protein complex which contributes to epithelial-mesenchymal coupling. We report a Thai woman with cryptophthalmos, dental anomalies, and oral vestibule defect. A compound heterozygous mutation (c.6499C>T; p.Arg2167Trp and c.641_642del; p.Glu214GlyfsTer135) in the FREM2 gene was identified. The frameshift variant p.Glu214GlyfsTer135 is de novo and novel. It is predicted to result in the loss of most of the functional domains. The p.Arg2167Trp mutation was predicted to disrupt both Ca2+ binding and conformational change. The Arg2167Trp mutant protein has been shown to cause partial loss of function, decrease its interaction with FREM1 and result in impaired function of the FRAS1-FREM2-FREM1 complex. Frem2 was shown to be expressed in the developing tooth and vestibular lamina. It is hypothesized that these mutations resulted in aberration of the FRAS1-FREM2-FREM1 protein complex, resulting in loss of nephronectin, basement membrane disruption, and abnormal epithelial-mesenchymal interactions leading to dental and oral vestibule malformations.
Assuntos
Proteínas da Matriz Extracelular/genética , Anormalidades do Olho/genética , Pestanas/anormalidades , Pálpebras/anormalidades , Anormalidades da Boca/genética , Mutação , Anormalidades Dentárias/genética , Adulto , Feminino , Humanos , Sequenciamento do Exoma/métodosRESUMO
Introducción: la glositis migratoria benigna, también conocida como lengua geográfica, es una variante normal, que presenta zonas superficiales circulares. Según la literatura revisada, dentro de sus causas figuran los procesos alérgicos, en los que están las alergias alimentarias. Se decidió realizar esta investigación para determinar la prevalencia de las alergias alimentarias frecuentes en estos pacientes mediante pruebas cutáneas. Materiales y métodos: se realizó un estudio descriptivo, longitudinal y prospectivo. La muestra estuvo compuesta por 27 pacientes en el período de enero hasta agosto de 2018 en portadores de glositis migratoria benigna, a los cuales se les realizaron pruebas alérgicas de tipo cutáneas para la determinación de alergias alimentarias. Resultados: el 59,3 % fue mujer y el antecedente alérgico más frecuente fue la rinitis alérgica. El antecedente de alergia alimentaria más frecuente fue los lácteos. Respecto a los resultados de las pruebas para la leche y los mariscos, estas dieron positivas en la mayoría de los pacientes, seguidos por el pescado, los huevos y los frutos secos. La prevalencia de positividad para por lo menos una prueba fue de 85,2%. Discusión: actualmente no existe suficiente literatura que hable sobre las posibles etiologías de la glositis migratoria benigna. Dentro de los antecedentes alérgicos, la rinitis alérgica fue la más frecuente, seguida de la alergia alimentaria. Hasta ahora existen pocas investigaciones que estudien esta prevalencia de alergias alimentarias en los pacientes de forma específica. Conclusión: la lengua geográfica no tiene factor epidemiológico predominante. El antecedente alérgico puede ser un factor predisponente, la alergia alimentaria puede ser desencadenante de la presentación de la lengua geográfica.
Introduction: The benign migratory glossitis, also known as geographic tongue, is a normal variant, which presents circular or irregular depapillated superficial areas. According to the literature reviewed, its causes include allergic processes, among these are food allergies. It was decided to carry out this investigation to determine the prevalence of frequent food allergies in these patients using skin tests. Materials and methods: A descriptive, longitudinal, prospective study was carried out. The sample consisted of 27 patients in the period January-August 2018, carriers of geographic tongue who underwent skin-type allergic tests to determine food allergies. Results: 59.3% were women without statistically significant predominance, the most frequent allergic history was allergic rhinitis. The most frequent history of food allergy was to dairy. Regarding the results of the tests for milk and shellfish, they were positive in 55.6%, followed by fish 14.8%, eggs and nuts with 11.1% respectively. The prevalence of positivity for at least one test was 85.2% with a statistically significant predominance over the negative result. Discussion: There is currently not enough literature that discusses the possible etiologies of benign migratory glossitis. Within the allergic history, allergic rhinitis was the most frequent, followed by food allergy. Until now there are few investigations that study this prevalence of food allergies in patients in a specific way. Conclusion: Geographic tongue does not have a predominant epidemiological factor, an allergic history can be a predisposing factor, food allergy can be a trigger for presentation of geographic language.