Cleft palate lateral synechia syndrome in two patients and literature review.

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.

Craniofacial phenotypes associated with Robinow syndrome.

Robinow syndrome is characterized by mesomelic limb shortening, hemivertebrae, and genital hypoplasia. Due to low prevalence and considerable phenotypic variability, it has been challenging to definitively characterize features of Robinow syndrome. While craniofacial abnormalities associated with Robinow syndrome have been broadly described, there is a lack of detailed descriptions of genotype-specific phenotypic craniofacial features. Patients with Robinow syndrome were invited for a multidisciplinary evaluation conducted by specialist physicians at our institution. A focused assessment of the craniofacial manifestations was performed by a single expert examiner using clinical examination and standard photographic images. A total of 13 patients with clinical and molecular diagnoses consistent with either dominant Robinow syndrome (DRS) or recessive Robinow syndrome (RRS) were evaluated. On craniofacial examination, gingival hyperplasia was nearly ubiquitous in all patients. Orbital hypertelorism, a short nose with anteverted and flared nares, a triangular mouth with a long philtrum, cleft palate, macrocephaly, and frontal bossing were not observed in all individuals but affected individuals with both DRS and RRS. Other anomalies were more selective in their distribution in this patient cohort. We present a comprehensive analysis of the craniofacial findings in patients with Robinow Syndrome, describing associated morphological features and correlating phenotypic manifestations to underlying genotype in a manner relevant for early recognition and focused evaluation of these patients.

Anomalies of the oral cavity in newborns.

Examination of the oral cavity should be an essential part of the newborn assessment. Early detection of congenital disorders is essential to begin appropriate medical or surgical therapy and to prevent complications that could profoundly affect a child's life. The present review aims to describe the main anomalies of the oral cavity in infants and provide images in order to help the physician in current clinical practice.

Ankyloglossia and Other Oral Ties.

Ankyloglossia and other oral ties have been recognized for centuries, but interest in and literature on these topics has recently increased. This article presents the latest evidence on the diagnosis and management of tongue-tie and outlines some of the controversies and gaps in the existing evidence. Anterior tongue-tie is accepted in most clinical practices as a potential risk for breastfeeding difficulty, and good evidence exists that division of an anterior tongue-tie leads to improved breastfeeding outcomes. Posterior tongue ties and upper lip-ties are being studied more intensively to provide sound, evidence-based recommendations on their diagnosis and treatment.

Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII.

Mucopolysaccharidosis Type VII (MPS7, also called ß-glucuronidase deficiency or Sly syndrome; MIM 253220) is an extremely rare autosomal recessive lysosomal storage disease, caused by mutations in the GUSB gene. ß-glucuronidase (GUSB) is a lysosomal hydrolase involved in the stepwise degradation of glucuronic acid-containing glycosaminoglycans (GAGs). Patients affected with MPS VII are not able to completely degrade glucuronic acid-containing GAGs, including chondroitin 4-sulfate, chondroitin 6-sulfate, dermatan sulfate, and heparan sulfate. The accumulation of these GAGs in lysosomes of various tissues leads to cellular and organ dysfunctions. Characteristic features of MPS VII include short stature, macrocephaly, hirsutism, coarse facies, hearing loss, cloudy cornea, short neck, valvular cardiac defects, hepatosplenomegaly, and dysostosis multiplex. Oral manifestations in patients affected with MPS VII have never been reported. Oral manifestations observed in three patients consist of wide root canal spaces, taurodontism, hyperplastic dental follicles, malposition of unerupted permanent molars, and failure of tooth eruption with malformed roots. The unusual skeletal features of the patients include maxillary hypoplasia, hypoplastic midface, long mandibular length, mandibular prognathism, hypoplastic and aplastic mandibular condyles, absence of the dens of the second cervical vertebra, and erosion of the cortex of the lower border of mandibles. Dogs affected with MPS VII had anterior and posterior open bite, maxillary hypoplasia, premolar crowding, and mandibular prognathism. Unlike patients with MPS VII, the dogs had unremarkable mandibular condyles. This is the first report of oral manifestations in patients affected with MPS VII.

Congenital dilatation of the submandibular duct.

Congenital dilatation of the submandibular duct also known as imperforate submandibular duct is a rare condition of unknown etiology, clinically characterized as a well-defined, fluctuant swelling in the floor of the mouth, and microscopically defined as a cystic cavity covered with pseudostratified columnar epithelium consistent with a dilated salivary duct. A 1-month-old female presented with a translucent, smooth cystic swelling in the floor of the mouth causing breastfeeding difficulty. The lesion was surgically excised and microscopically, a cystic cavity lined with pseudostratified columnar epithelium was observed. The final diagnosis was congenital dilatation of the submandibular duct. Dentists and otolaryngologists should consider congenital dilatation of the submandibular duct when evaluating fluctuant swelling in the floor of the month of infants.

Toxina botulínica para tratamento de síndrome do Choro Assimétrico: relato de caso / Botulinum toxin in the treatment of asymmetric crying face syndrome: a case report

Síndrome do choro assimétrico é uma condição congênita secundária à hipoplasia ou ausência do músculo depressor do ângulo da boca. Trata-se de uma condição não tão incomum que pode cursar com assimetria facial ao chorar e sorrir, além de poder estar associadas a outras malformações congênitas. Crianças com essa deformidade podem sofrer dificuldades psicossociais e introversão. O arsenal terapêutico dessa condição já foi estudado e discutido na literatura com ênfase em abordagens cirúrgicas e invasivas. Relatamos aqui um caso de uma criança de 9 anos com essa síndrome, tratada, de forma menos invasiva, com toxina botulínica, com um bom resultado e satisfação.

Asymmetric crying face syndrome is a congenital condition secondary to hypoplasia or absence of the depressor muscle at the mouth angle. It is a common condition that presents with facial asymmetry while crying and smiling and may be associated with other congenital malformations. Children with this deformity may experience psychosocial difficulties and introversion. The therapeutic arsenal of this condition has already been studied and discussed in the literature with an emphasis on surgical and invasive approaches. We report here a case of a 9-year-old child with this syndrome, treated less invasively with botulinum toxin, with good result and satisfaction.

Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.

Pierre-Robin sequence, radial deviation, and ulnar clinodactyly of the index fingers due to an additional phalangeal bone, as well as heart defects are the key features of Catel-Manzke syndrome. Although mutations in TGDS were identified as the cause of this disorder, the pathogenetic mechanism remains unknown. Here, we report on a fetus with severe heart defect, nuchal edema, talipes, Pierre-Robin sequence, and bilateral deviation and clinodactyly of the index and middle fingers. Pregnancy was terminated at the 22nd week of gestation. Postmortem radiographs showed hypoplasia and V-shaped displacement of the second and third proximal phalanges of both hands as well as hypoplasia of the first metatarsals and the phalangeal bones of the halluces. The suggested diagnosis Catel-Manzke syndrome was confirmed by the detection of two compound heterozygous mutations in TGDS: The known variant c.298G>T; p.(Ala100Ser) and the so far undescribed variant c.895G>A; p.(Asp299Asn), located in the predicted substrate binding site of TGDS. This is the first report on the association of mutations in TGDS with additional anomalies of the middle fingers and halluces. We provide a detailed phenotypic characterization of the only fetus with molecularly confirmed Catel-Manzke syndrome, which is relevant for prenatal diagnosis. Our findings widen the phenotype spectrum caused by TGDS mutations and underline the phenotypic overlap with Temtamy preaxial brachydactyly syndrome. This improves our understanding of the prenatal development and the pathogenetic mechanism of Catel-Manzke syndrome.

Comportamiento de la oclusión dentaria en pacientes operados de cirugía ortognática / Behavior of dental occlusion in patients undergoing orthognathic surgery

Introducción: la cirugía ortognática corrige las alteraciones del componente esquelético en las anomalías dentomaxilofaciales. Estas deformidades provocan deficiente relación de los huesos maxilares, afectando la oclusión dentaria y sus funciones. Objetivo: identificar el comportamiento de la oclusión dentaria en pacientes que fueron intervenidos por cirugía ortognática. Materiales y Métodos: se realizó un estudio observacional descriptivo con el objetivo de identificar características oclusales en pacientes intervenidos por cirugía ortognática. Se utilizaron las variables: relación de molares, guías de función lateral, tipo de masticación, interferencias oclusales en movimiento de protrusión y de lateralidad. Resultados: se observaron pacientes con relación de molares en mesioclusión, lo cual es un indicio de recidiva de la neutroclusión que había sido alcanzada. La intervención quirúrgica de mayor incidencia fue la retroposición mandibular acompañada de centralización. Existió una gran mejoría de la función masticatoria. La mayoría de los pacientes, se encontraban libres de interferencias oclusales. Conclusiones: los examinados se encontraron entre los grupos de edades de 24 a 38 años, y el sexo femenino predominó con un 60,5 %. El 13, 2 % de los sujetos presentaron mesioclusión, con mayor incidencia en los casos intervenidos con retroposición y centralización de la mandíbula. Predominó la función canina en los movimientos de lateralidad. La mayoría de los pacientes se encontraban libres de interferencias oclusales, representando el 71,1 % de los pacientes estudiados.

Introduction: the orthognatic surgery corrects the alterations of the skeletal component in dentomaxillafacial anomalies. These deformations cause deficient relations of the maxillary bones, affecting the dental occlusion and its functions. Objective: to identify dental occlusion behavior in patients undergoing orthognatic surgery. Materials and methods: an observational, descriptive study was carried out with the objective of identifying oclussal characteristics in patients who underwent orthognatic surgery. The used variables were: molars relation, guides of lateral functioning, kinds of chewing, occlusive interferences in protrusion movements and in movements of laterality. Results: patients were found with molars relation of mesiooclussion, which is an indication of recidivism in the achieved neutroclussion. The surgical intervention with higher incidence was mandibular retro positioning accompanied by centralization. There it was a great improvement of the chewing function. Most of the patients were free of oclussal interferences. Conclusions: the assessed patients were in the age-groups from 24 to 38 years, and female sex predominated with 60.5 %. 13.2 % of the subjects had mesiocclusion, with higher incidence in the cases surgically treated with jaw retroposition and centralization. The canine tooth function in the lateral movements predominated. Most of the patients were free from occlusive interferences, being 71.1 % of the studied patients.

Comportamiento de la oclusión dentaria en pacientes operados de cirugía ortognática / Behavior of dental occlusion in patients undergoing orthognathic surgery

Introducción: la cirugía ortognática corrige las alteraciones del componente esquelético en las anomalías dentomaxilofaciales. Estas deformidades provocan deficiente relación de los huesos maxilares, afectando la oclusión dentaria y sus funciones. Objetivo: identificar el comportamiento de la oclusión dentaria en pacientes que fueron intervenidos por cirugía ortognática. Materiales y Métodos: se realizó un estudio observacional descriptivo con el objetivo de identificar características oclusales en pacientes intervenidos por cirugía ortognática. Se utilizaron las variables: relación de molares, guías de función lateral, tipo de masticación, interferencias oclusales en movimiento de protrusión y de lateralidad. Resultados: se observaron pacientes con relación de molares en mesioclusión, lo cual es un indicio de recidiva de la neutroclusión que había sido alcanzada. La intervención quirúrgica de mayor incidencia fue la retroposición mandibular acompañada de centralización. Existió una gran mejoría de la función masticatoria. La mayoría de los pacientes, se encontraban libres de interferencias oclusales. Conclusiones: los examinados se encontraron entre los grupos de edades de 24 a 38 años, y el sexo femenino predominó con un 60,5 %. El 13, 2 % de los sujetos presentaron mesioclusión, con mayor incidencia en los casos intervenidos con retroposición y centralización de la mandíbula. Predominó la función canina en los movimientos de lateralidad. La mayoría de los pacientes se encontraban libres de interferencias oclusales, representando el 71,1 % de los pacientes estudiados. (AU)

Introduction: the orthognatic surgery corrects the alterations of the skeletal component in dentomaxillafacial anomalies. These deformations cause deficient relations of the maxillary bones, affecting the dental occlusion and its functions. Objective: to identify dental occlusion behavior in patients undergoing orthognatic surgery. Materials and methods: an observational, descriptive study was carried out with the objective of identifying oclussal characteristics in patients who underwent orthognatic surgery. The used variables were: molars relation, guides of lateral functioning, kinds of chewing, occlusive interferences in protrusion movements and in movements of laterality. Results: patients were found with molars relation of mesiooclussion, which is an indication of recidivism in the achieved neutroclussion. The surgical intervention with higher incidence was mandibular retro positioning accompanied by centralization. There it was a great improvement of the chewing function. Most of the patients were free of oclussal interferences. Conclusions: the assessed patients were in the age-groups from 24 to 38 years, and female sex predominated with 60.5 %. 13.2 % of the subjects had mesiocclusion, with higher incidence in the cases surgically treated with jaw retroposition and centralization. The canine tooth function in the lateral movements predominated. Most of the patients were free from occlusive interferences, being 71.1 % of the studied patients.(AU)

A veil in the oral cavity: report of two cases of oral synechiae.

An oral synechia is an adhesion between the maxilla and the mandible; these adhesions can be found at various locations in the oral cavity. The presence of oral synechiae associated with cleft palate represents a rare congenital deformity. Oral synechiae with cleft palate can have serious implications for airway management and feeding in babies, and hence requires early intervention to reduce morbidity. Two cases of congenital oral synechiae accompanied by cleft palate, in which the synechiae veiled the oral cavity restricting a detailed intraoral examination, are reported here.

Nance-Horan syndrome-The oral perspective on a rare disease.

The present study describes seven patients with Nance-Horan syndrome, all referred to a specialized oral care unit in the Central Denmark Region. A literature search on "Nance Horan Syndrome" resulted in 53 publications among which 29 reported on dental findings. Findings reported in these papers have been systematized to obtain an overview of the reported findings and the terminology on dental morphology. All seven patients included in the present study showed deviations of crown morphology on incisors and/or molars. The only consistent and very clear dental aberration was alterations in the tooth morphology that is screwdriver-shaped incisors and bud molars being most pronounced in the permanent dentition, but were also present in the primary dentition. In addition, three patients had supernumerary teeth, and three had dental agenesis. In conclusion, a dental examination as a part of the diagnostic process may reveal distinct characteristics of the dental morphology, which could be of diagnostic value and facilitate an early diagnosis. In the description of molar morphology in NHS patients, it is recommended to use the term "bud molar." The combination of congenital cataract, screwdriwer-shaped incisors and bud-shaped molars is a strong clinical indication of Nance-Horan syndrome. © 2016 Wiley Periodicals, Inc.

Limitações estéticas na reabilitação de pacientes com prótese bucomaxilo ­ relato de caso / Aesthetic limitations of rehabilitation of patients with maxillofacial prosthesis ­ case report

Pacientes com deformidades palatinas podem apresentar alterações nas funções orais, além da dificuldade do convívio social imposta pelo dano na fonação e na estética. Este caso clínico tem o objetivo de descrever a reabilitação de um paciente parcialmente edêntulo com comunicação buconasal por meio de prótese parcial removível, relatando as dificuldades e limitações do caso. As etapas clínicas e laboratoriais de confecção da prótese parcial removível para obliteração com comunicação buconasal foram semelhantes à de uma prótese parcial removível convencional, diferindo na moldagem para evitar o extravasamento excessivo de material para o interior do defeito, cuidado na manipulação dos tecidos pela reduzida elasticidade provocada pelo processo cicatricial e na polimerização da prótese, uma vez que o bulbo necessitava ser oco para torná-la mais leve. Após as consultas de proservação e a integração harmoniosa da prótese com a cavidade oral, constatou-se a satisfação do paciente com o restabelecimento de suas funções e da estética (AU).

Patients with cleft deformities may present changes in oral functions, as well as social problems due to compromised phonation and aesthetics. This clinical case aims to describe the rehabilitation of a partially edentulous patient with oronasal communication, through partial prosthesis, reporting the difficulties and limitations of the case. Clinical and laboratory stages of the manufacture of the removable partial denture to obliterate the oronasal communication were similar to those of a conventional removable partial denture. It differed in the molding to avoid excessive leakage of material into the defect, careful handling of the tissues, the reduced elasticity caused by the cicatricial process and the polymerization of the prosthesis since the bulb needed to be hollow to make it lighter. After proservation consults and harmonious integration of the prosthesis with the oral cavity, it was verified the patient's satisfaction with the restoration of his functions and the aesthetics (AU).

Syngnathia Between the Palate and Mouth Floor, Cleft Palate, and Funnel Chest.

Syngnathia is a rare malformation involving soft tissue and/or bony adhesions between the maxilla and mandible. Less than 40 patients have been reported in the literature. Here the authors report a 6-month-old infant diagnosed as syngnathia of the palate and mouth floor combined with cleft palate and funnel chest in the Department of Oral and Maxillofacial Surgery at Henan Provincial People's Hospital in January 2015. The authors discussed and evaluated the diagnostic and treatment difficulties on surgical and anesthetic procedure. There is no standard treatment protocol, but early treatment is necessary to improve airway functions and infant feeding, and to support proper nutrition for the growth of maxillofacial region.

Congenital oral synechia and ankyloblepharon filiforme adnatum: Case report and literature review.

INTRODUCTION: Congenital intraoral synechias are adhesions of intraoral structures involving soft tissue. These conditions and another anomaly called ankyloblepharon filiforme adnatum, which is partial fusion of the eyelid margins by bands of tissue, are rarely reported in the literature. The association of both anomalies of the craniomaxillofacial region is an even more unusual finding. PURPOSE: This article adds more information to the literature by reporting a case of a neonate with a rare association of bilateral synechia between the jaws, fusion of buccal mucosa to the ridges and between the tongue and palate, and ankyloblepharon filiforme adnatum in both eyes, without any other facial or systemic malformation. METHODS: A literature review of similar cases published in PUBMED/MEDLINE was conducted followed by a discussion and comparison to the new case. CONCLUSION: The rare association of these congenital defects, without the presence of syndromic symptoms, could be diagnosed and treated easily with good prognostic evolution.

Dos casos de angina bullosa hemorrágica espontánea / Two cases of spontaneous angina bullosa hemorrhagica

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MSX1 mutations and associated disease phenotypes: genotype-phenotype relations.

The Msx1 transcription factor is involved in multiple epithelial-mesenchymal interactions during vertebrate embryogenesis. It has pleiotropic effects in several tissues. In humans, MSX1 variants have been related to tooth agenesis, orofacial clefting, and nail dysplasia. We correlate all MSX1 disease causing variants to phenotypic features to shed light on this hitherto unclear association. MSX1 truncations cause more severe phenotypes than in-frame variants. Mutations in the homeodomain always cause tooth agenesis with or without other phenotypes while mutations outside the homeodomain are mostly associated with non-syndromic orofacial clefts. Downstream effects can be further explored by the edgetic perturbation model. This information provides new insights for genetic diagnosis and for further functional analysis of MSX1 variants.

Anomalías del desarrollo de forma en dentición temporal / No disponible

La mayor prevalencia de anomalías del desarrollo de la forma que afectan parcialmente a la corona, se corresponden con la entidad conocida como cúspides accesorias o supernumerarias. Este término se refiere a la presencia de un mayor número de cúspides o a cúspides desproporcionadamente grandes, que alteran la anatomía normal del diente. Ambas pueden aparecer en cualquier grupo dentario. En la literatura están descritos, entre otros, los siguientes tipos: talón cuspídeo, cúspides centrales o intersticiales, tubérculos paramolares, tubérculo de Carabelli, diente evaginado, diente en tecla de piano, diente en destornillador o en clavija1. Algunas de estas anomalías son más que evidentes clínicamente, y otras pueden pasar desapercibidas para el profesional. No existen suficientes datos epidemiológicos para determinar la prevalencia de esta alteración en población infantil. Se desconocen las circunstancias que provocan esta anomalía de forma durante el desarrollo embrionario. Sin embargo, puede ser debida a la combinación de factores genéticos y ambientales que afectan a la actividad de la lámina dental durante la odontogénesis (AU)

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Dental anomalies inside the cleft region in individuals with nonsyndromic cleft lip with or without cleft palate

BACKGROUND: Individuals with nonsyndromic cleft lip with or without cleft palate (NSCL±P) present high frequency of dental anomalies, which may represent complicating factors for dental treatment. The aim of this study was to investigate the prevalence of dental anomalies inside cleft area in a group of Brazilians with NSCL±P. MATERIAL AND METHODS: Retrospective analysis of 178 panoramic radiographs of patients aged from 12 to 45 years old and without history of tooth extraction or orthodontic treatment was performed. Association between cleft type and the prevalence of dental anomalies was assessed by chi-square test with a significance level set at pless than or equal to 0.05. RESULTS: Dental anomalies were found in 88.2% (n = 157) of the patients. Tooth agenesis (47.1%), giroversion (20%) and microdontia (15.5%) were the most common anomalies. Individuals with unilateral complete cleft lip and palate (CLP, p< 0.0001) were more affected by tooth agenesis than individuals with other cleft types. The maxillary lateral incisors were the most affected teeth (p < 0.0001). CONCLUSIONS: The present study revealed a high frequency of dental anomalies inside cleft region in NSCL±P patients, and further demonstrated that patients with unilateral complete CLP and bilateral incomplete CLP were frequently more affected by dental anomalies. Moreover, our results demonstrate that dental anomalies should be considered during dental treatment planning of individuals affected by NSCL±P

Evaluation of volumetric measurements on CBCT images using stafne bone cavities as an example

BACKGROUND: The aim of the present study is to evaluate the efficacy of CBCT in volume measuring using Stafne Bone Cavities (SBC) as an example. MATERIAL AND METHODS: The study was conducted with 14 subjects with SBC detected on panoramic radiographs. In order to evaluate lesions volumetric dimensions, CBCT images for each patient were captured. Files in Digital Imaging and Communications in Medicine (DICOM) format were transferred into a medical image processing program (ITK-SNAP 2.4.0) and volume in mm3 of the cavities were measured using semi-automatic segmentation procedure by 2 observers blinded to each other over a one-month period. Inter-reliability of volumetric measurements between observers was compared. SBCs relation to mandibular canal was also examined and three types of relation were observed; type 1: mandibular canal is separated from the SBC, type 2: mandibular canal is in contact with SBC, type 3: mandibular canal goes through the SBC. RESULTS: There were 12 males and 2 females who had SBC in this study (age range: 37-73, mean age: 55.3 years). The total volume of SBC in patients ranged from 160 mm3 to 520 mm3 (mean: 361.7 mm3 ). There was no significant difference between observers for volume measurements (p > 0.05). According to relationship of SBC with mandibular canal, most SBCs were Type 1 (64.3 %) followed by type 3 (21.4 %) and type 2 (14.3 %). Pearson correlation coefficient shows a positive correlation between lesions volumetric size and relation with mandibular canal (pearson correlation = 0.54, sig < 0.05). CONCLUSIONS: Based on the results of this preliminary study, CBCT was considered to be an effective radiographic technic for measuring volumetric sizes of SBCs. However further studies with larger sample sizes are needed to prove the usefulness of CBCT in volume measurements