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.

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.

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.

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.

[Diagnosis and management of ankyloglossia in young children]. / Diagnostic et prise en charge de l'ankyloglossie chez le jeune enfant.

Ankyloglossia is a common condition. Its prevalence is between 3.2% and 4.8% depending on the series and is largely underestimated given the fact of non-diagnosis when the symptoms are limited. It is defined as a short lingual frenulum resulting in a limitation of the lingual mobility. It is due to a defect in cellular apoptosis embryogenesis between the floor of the mouth and tongue. The result is a fibrous and short lingual frenulum. Several classifications were used to make the diagnosis. However, these are the clinical implications, particularly on food and primarily breastfeeding in the baby and phonation in older children that will motivate the management. This is surgical and different techniques are available: infants before the age of 6 months and when the lingual frenulum is still a fine cellular membrane, frenotomy is recommended. Frenectomy with or without frenoplasty is indicated for the older child. The surgery is simple, the results are good and rapidly improving grievances. Complications are rare. Finally, speech therapy is important when there are implications for phonation.

Isolated congenital maxillomandibular synechiae.

INTRODUCTION: Congenital maxillomandibular syngnathia, or fusion of the jaws, is a rare condition that has a broad spectrum of presentations. The restricted mouth opening can lead to issues with feeding, swallowing, and respiration resulting in failure to thrive and temporomandibular joint ankylosis. Early recognition and treatment is necessary for proper growth and development. CASE REPORT: We report a 1-day-old male with isolated bilateral soft tissue alveolar fibrous bands. He presented with difficulty feeding secondary to trismus. No bony or muscular involvement in the synechiae was noted and the remainder of the physical exam was unremarkable. The bilateral alveolar synechiae were divided under local anesthesia using surgical scissors. The patient immediately showed improvement in mouth opening and had resolution of his feeding problems. He is now gaining weight and developing appropriately. DISCUSSION: The accompanying review of the literature demonstrates only 11 cases worldwide of isolated maxillomandibular fusion. Depending upon the composition of the synechiae, simple surgical division under local anesthesia can be curative.

The development of a tongue assessment tool to assist with tongue-tie identification.

AIM: To produce a simple tool with good transferability to provide a consistent assessment of tongue appearance and function in infants with tongue-tie. METHODS: The Bristol Tongue Assessment Tool (BTAT) was developed based on clinical practice and with reference to the Hazelbaker Assessment Tool for Lingual Frenulum Function (ATLFF). This paper documents 224 tongue assessments using the BTAT. There were 126 tongue assessments recorded using the BTAT and ATLFF tools to facilitate comparisons between them. Paired BTAT assessments were obtained from eight midwives who were using the new assessment tool. RESULTS: There was acceptable internal reliability for the four-item BTAT (Cronbach's α=0.708) and the eight midwives who used it showed good correlation in the consistency of its use (ICC=0.760). The BTAT showed a strong and significant correlation (0.89) with the ATLFF, indicating that the simpler BTAT could be used in place of the more detailed assessment tool to score the extent of a tongue-tie. Midwives found it quick and easy to use and felt that it would be easy to teach to others. CONCLUSIONS: The BTAT provides an objective, clear and simple measure of the severity of a tongue-tie, to inform selection of infants for frenotomy and to monitor the effect of the procedure.