Idiopathic ophthalmodynia and idiopathic rhinalgia: two topographic facial pain syndromes.

Science.gov (United States)

Pareja, Juan A; Cuadrado, María L; Porta-Etessam, Jesús; Fernández-de-las-Peñas, César; Gili, Pablo; Caminero, Ana B; Cebrián, José L

2010-09-01

To describe 2 topographic facial pain conditions with the pain clearly localized in the eye (idiopathic ophthalmodynia) or in the nose (idiopathic rhinalgia), and to propose their distinction from persistent idiopathic facial pain. Persistent idiopathic facial pain, burning mouth syndrome, atypical odontalgia, and facial arthromyalgia are idiopathic facial pain syndromes that have been separated according to topographical criteria. Still, some other facial pain syndromes might have been veiled under the broad term of persistent idiopathic facial pain. Through a 10-year period we have studied all patients referred to our neurological clinic because of facial pain of unknown etiology that might deviate from all well-characterized facial pain syndromes. In a group of patients we have identified 2 consistent clinical pictures with pain precisely located either in the eye (n=11) or in the nose (n=7). Clinical features resembled those of other localized idiopathic facial syndromes, the key differences relying on the topographic distribution of the pain. Both idiopathic ophthalmodynia and idiopathic rhinalgia seem specific pain syndromes with a distinctive location, and may deserve a nosologic status just as other focal pain syndromes of the face. Whether all such focal syndromes are topographic variants of persistent idiopathic facial pain or independent disorders remains a controversial issue.

Oral-facial-digital syndrome type II: Transitional type between Mohr ...

African Journals Online (AJOL)

Rabah M. Shawky

2013-04-16

Apr 16, 2013 ... VI, however mentality and MRI brain were nor- mal. This unusual association may suggest an ... urinary crystals between the 5th and 6th months of pregnancy, one injection for allergy at the 4th and again at the 8th month of pregnancy as well as vitamin supplementation. * Corresponding author. Address: ...

Nablus mask-like facial syndrome

DEFF Research Database (Denmark)

Allanson, Judith; Smith, Amanda; Hare, Heather

2012-01-01

Nablus mask-like facial syndrome (NMLFS) has many distinctive phenotypic features, particularly tight glistening skin with reduced facial expression, blepharophimosis, telecanthus, bulky nasal tip, abnormal external ear architecture, upswept frontal hairline, and sparse eyebrows. Over the last few...

Digital disruption ?syndromes.

Science.gov (United States)

Sullivan, Clair; Staib, Andrew

2017-05-18

The digital transformation of hospitals in Australia is occurring rapidly in order to facilitate innovation and improve efficiency. Rapid transformation can cause temporary disruption of hospital workflows and staff as processes are adapted to the new digital workflows. The aim of this paper is to outline various types of digital disruption and some strategies for effective management. A large tertiary university hospital recently underwent a rapid, successful roll-out of an integrated electronic medical record (EMR). We observed this transformation and propose several digital disruption "syndromes" to assist with understanding and management during digital transformation: digital deceleration, digital transparency, digital hypervigilance, data discordance, digital churn and post-digital 'depression'. These 'syndromes' are defined and discussed in detail. Successful management of this temporary digital disruption is important to ensure a successful transition to a digital platform. What is known about this topic? Digital disruption is defined as the changes facilitated by digital technologies that occur at a pace and magnitude that disrupt established ways of value creation, social interactions, doing business and more generally our thinking. Increasing numbers of Australian hospitals are implementing digital solutions to replace traditional paper-based systems for patient care in order to create opportunities for improved care and efficiencies. Such large scale change has the potential to create transient disruption to workflows and staff. Managing this temporary disruption effectively is an important factor in the successful implementation of an EMR. What does this paper add? A large tertiary university hospital recently underwent a successful rapid roll-out of an integrated electronic medical record (EMR) to become Australia's largest digital hospital over a 3-week period. We observed and assisted with the management of several cultural, behavioural and

Effect of endoscopic brow lift on contractures and synkinesis of the facial muscles in patients with a regenerated postparalytic facial nerve syndrome.

Science.gov (United States)

Bran, Gregor M; Börjesson, Pontus K E; Boahene, Kofi D; Gosepath, Jan; Lohuis, Peter J F M

2014-01-01

Delayed recovery after facial palsy results in aberrant nerve regeneration with symptomatic movement disorders, summarized as the postparalytic facial nerve syndrome. The authors present an alternative surgical approach for improvement of periocular movement disorders in patients with postparalytic facial nerve syndrome. The authors proposed that endoscopic brow lift leads to an improvement of periocular movement disorders by reducing pathologically raised levels of afferent input. Eleven patients (seven women and four men) with a mean age of 54 years (range, 33 to 85 years) and with postparalytic facial nerve syndrome underwent endoscopic brow lift under general anesthesia. Patients' preoperative condition was compared with their postoperative condition using a retrospective questionnaire. Subjects were also asked to compare the therapeutic effectiveness of endoscopic brow lift and botulinum toxin type A. Mean follow-up was 52 months (range, 22 to 83 months). No intraoperative or postoperative complications occurred. During follow-up, patients and physicians observed an improvement of periorbital contractures and oculofacial synkinesis. Scores on quality of life improved significantly after endoscopic brow lift. Best results were obtained when botulinum toxin type A was adjoined after the endoscopic brow lift. Patients described a cumulative therapeutic effect. These findings suggest endoscopic brow lift as a promising additional treatment modality for the treatment of periocular postparalytic facial nerve syndrome-related symptoms, leading to an improved quality of life. Even though further prospective investigation is needed, a combination of endoscopic brow lift and postsurgical botulinum toxin type A administration could become a new therapeutic standard.

Facial biometrics of peri-oral changes in Crohn's disease.

Science.gov (United States)

Zou, L; Adegun, O K; Willis, A; Fortune, Farida

2014-05-01

Crohn's disease is a chronic relapsing and remitting inflammatory condition which affects any part of the gastrointestinal tract. In the oro-facial region, patients can present peri-oral swellings which results in severe facial disfigurement. To date, assessing the degree of facial changes and evaluation of treatment outcomes relies on clinical observation and semi-quantitative methods. In this paper, we describe the development of a robust and reproducible measurement strategy using 3-D facial biometrics to objectively quantify the extent and progression of oro-facial Crohn's disease. Using facial laser scanning, 32 serial images from 13 Crohn's patients attending the Oral Medicine clinic were acquired during relapse, remission, and post-treatment phases. Utilising theories of coordinate metrology, the facial images were subjected to registration, regions of interest identification, and reproducible repositioning prior to obtaining volume measurements. To quantify the changes in tissue volume, scan images from consecutive appointments were compared to the baseline (first scan image). Reproducibility test was performed to ascertain the degree of uncertainty in volume measurements. 3-D facial biometric imaging is a reliable method to identify and quantify peri-oral swelling in Crohn's patients. Comparison of facial scan images at different phases of the disease revealed precisely profile and volume changes. The volume measurements were highly reproducible as adjudged from the 1% standard deviation. 3-D facial biometrics measurements in Crohn's patients with oro-facial involvement offers a quick, robust, economical and objective approach for guided therapeutic intervention and routine assessment of treatment efficacy on the clinic.

Pediatric obstructive sleep apnea and the critical role of oral-facial growth: evidences.

Science.gov (United States)

Huang, Yu-Shu; Guilleminault, Christian

2012-01-01

Review of evidence in support of an oral-facial growth impairment in the development of pediatric sleep apnea in non-obese children. Review of experimental data from infant monkeys with experimentally induced nasal resistance. Review of early historical data in the orthodontic literature indicating the abnormal oral-facial development associated with mouth breathing and nasal resistance. Review of the progressive demonstration of sleep-disordered-breathing (SDB) in children who underwent incomplete treatment of OSA with adenotonsillectomy, and demonstration of abnormal oral-facial anatomy that must often be treated in order for the resolution of OSA. Review of data of long-term recurrence of OSA and indication of oral-facial myofunctional dysfunction in association with the recurrence of OSA. Presentation of prospective data on premature infants and SDB-treated children, supporting the concept of oral-facial hypotonia. Presentation of evidence supporting hypotonia as a primary element in the development of oral-facial anatomic abnormalities leading to abnormal breathing during sleep. Continuous interaction between oral-facial muscle tone, maxillary-mandibular growth and development of SDB. Role of myofunctional reeducation with orthodontics and elimination of upper airway soft tissue in the treatment of non-obese SDB children. Pediatric OSA in non-obese children is a disorder of oral-facial growth.

Pediatric Obstructive Sleep Apnea and the critical role of oral-facial growth: evidences

Directory of Open Access Journals (Sweden)

Christian eGuilleminault

2013-01-01

Full Text Available Aims: Review of evidence in support of an oral-facial growth impairment in the development of pediatric sleep apnea in non-obese childrenMethod: Review of experimental data from infant monkeys with experimentally induced nasal resistance. Review of early historical data in the orthodontic literature indicating the abnormal oral-facial development associated with mouth breathing and nasal resistance. Review of the progressive demonstration of sleep disordered breathing in children who underwent incomplete treatment of OSA with adenotonsillectomy, and demonstration of abnormal oral-facial anatomy that must often to be treated in order for the resolution of OSA. Review of long term recurrence data on OSA and indication of oral-facial myofunctional dysfunction in association with the recurrence of OSA. Results: Presentation of prospective data on premature infants and sleep-disordered-breathing (SDB-treated children, supporting the concept of oral-facial hypotonia. Presentation of evidence supporting hypotonia as a primary element in the development of oral-facial anatomic abnormalities leading to abnormal breathing during sleep. Continuous interaction between oral facial muscle tone, maxillary-mandibular growth and development of SDB. Role of myofunctional re-education with orthodontics and elimination of upper airway soft tissue in the treatment of non-obese SDB children. Conclusion: Pediatric OSA in non-obese children is a disorder of oral facial growth.

Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease.

Science.gov (United States)

Conrad, Máire A; Dawany, Noor; Sullivan, Kathleen E; Devoto, Marcella; Kelsen, Judith R

2017-12-01

Very early onset inflammatory bowel disease, diagnosed in children ≤5 years old, can be the initial presentation of some primary immunodeficiencies. In this study, we describe a 17-month-old boy with recurrent infections, growth failure, facial anomalies, and inflammatory bowel disease. Immune evaluation, whole-exome sequencing, karyotyping, and methylation array were performed to evaluate the child's constellation of symptoms and examination findings. Whole-exome sequencing revealed that the child was homozygous for a novel variant in ZBTB24, the gene associated with immunodeficiency, centromere instability, and facial anomalies type-2 syndrome. This describes the first case of inflammatory bowel disease associated with immunodeficiency, centromere instability, and facial anomalies type-2 syndrome in a child with a novel disease-causing mutation in ZBTB24 found on whole-exome sequencing.

Automated syndrome detection in a set of clinical facial photographs.

Science.gov (United States)

Boehringer, Stefan; Guenther, Manuel; Sinigerova, Stella; Wurtz, Rolf P; Horsthemke, Bernhard; Wieczorek, Dagmar

2011-09-01

Computer systems play an important role in clinical genetics and are a routine part of finding clinical diagnoses but make it difficult to fully exploit information derived from facial appearance. So far, automated syndrome diagnosis based on digital, facial photographs has been demonstrated under study conditions but has not been applied in clinical practice. We have therefore investigated how well statistical classifiers trained on study data comprising 202 individuals affected by one of 14 syndromes could classify a set of 91 patients for whom pictures were taken under regular, less controlled conditions in clinical practice. We found a classification accuracy of 21% percent in the clinical sample representing a ratio of 3.0 over a random choice. This contrasts with a 60% accuracy or 8.5 ratio in the training data. Producing average images in both groups from sets of pictures for each syndrome demonstrates that the groups exhibit large phenotypic differences explaining discrepancies in accuracy. A broadening of the data set is suggested in order to improve accuracy in clinical practice. In order to further this goal, a software package is made available that allows application of the procedures and contributions toward an improved data set. Copyright © 2011 Wiley-Liss, Inc.

Morphological integration of soft-tissue facial morphology in Down Syndrome and siblings.

Science.gov (United States)

Starbuck, John; Reeves, Roger H; Richtsmeier, Joan

2011-12-01

Down syndrome (DS), resulting from trisomy of chromosome 21, is the most common live-born human aneuploidy. The phenotypic expression of trisomy 21 produces variable, though characteristic, facial morphology. Although certain facial features have been documented quantitatively and qualitatively as characteristic of DS (e.g., epicanthic folds, macroglossia, and hypertelorism), all of these traits occur in other craniofacial conditions with an underlying genetic cause. We hypothesize that the typical DS face is integrated differently than the face of non-DS siblings, and that the pattern of morphological integration unique to individuals with DS will yield information about underlying developmental associations between facial regions. We statistically compared morphological integration patterns of immature DS faces (N = 53) with those of non-DS siblings (N = 54), aged 6-12 years using 31 distances estimated from 3D coordinate data representing 17 anthropometric landmarks recorded on 3D digital photographic images. Facial features are affected differentially in DS, as evidenced by statistically significant differences in integration both within and between facial regions. Our results suggest a differential affect of trisomy on facial prominences during craniofacial development. 2011 Wiley Periodicals, Inc.

Ellis-van Creveld syndrome with facial hemiatrophy

Directory of Open Access Journals (Sweden)

Bhat Yasmeen

2010-01-01

Full Text Available Ellis-van Creveld (EVC syndrome is a rare autosomal recessive congenital disorder characterized by chondrodysplasia and polydactyly, ectodermal dysplasia and congenital defects of the heart. We present here a case of a 16-year-old short-limbed dwarf with skeletal deformities and bilateral postaxial polydactyly, dysplastic nails and teeth, also having left-sided facial hemiatrophy. The diagnosis of EVC syndrome was made on the basis of clinical and radiological features. To the best of our knowledge, this is the first report of EVC syndrome with facial hemiatrophy in the medical literature from India.

[Oral diseases in auto-immune polyendocrine syndrome type 1].

Science.gov (United States)

Proust-Lemoine, Emmanuelle; Guyot, Sylvie

2017-09-01

Auto-immune polyendocrine syndrome type 1 (APS1) also called Auto-immune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) is a rare monogenic childhood-onset auto-immune disease. This autosomal recessive disorder is caused by mutations in the auto-immune regulator (AIRE) gene, and leads to autoimmunity targeting peripheral tissues. There is a wide variability in clinical phenotypes in patients with APSI, with auto-immune endocrine and non-endocrine disorders, and chronic mucocutaneous candidiasis. These patients suffer from oral diseases such as dental enamel hypoplasia and candidiasis. Both are frequently described, and in recent series, enamel hypoplasia and candidiasis are even the most frequent components of APS1 together with hypoparathyroidism. Both often occur during childhood (before 5 years old for canrdidiasis, and before 15 years old for enamel hypoplasia). Oral candidiasis is recurrent all life long, could become resistant to azole antifungal after years of treatment, and be carcinogenic, leading to severe oral squamous cell carcinoma. Oral components of APS1 should be diagnosed and rigorously treated. Dental enamel hypoplasia and/or recurrent oral candidiasis in association with auto-immune diseases in a young child should prompt APS1 diagnosis. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Correction of Facial Deformity in Sturge–Weber Syndrome

Science.gov (United States)

Yamaguchi, Kazuaki; Lonic, Daniel; Chen, Chit

2016-01-01

Background: Although previous studies have reported soft-tissue management in surgical treatment of Sturge–Weber syndrome (SWS), there are few reports describing facial bone surgery in this patient group. The purpose of this study is to examine the validity of our multidisciplinary algorithm for correcting facial deformities associated with SWS. To the best of our knowledge, this is the first study on orthognathic surgery for SWS patients. Methods: A retrospective chart review included 2 SWS patients who completed the surgical treatment algorithm. Radiographic and clinical data were recorded, and a treatment algorithm was derived. Results: According to the Roach classification, the first patient was classified as type I presenting with both facial and leptomeningeal vascular anomalies without glaucoma and the second patient as type II presenting only with a hemifacial capillary malformation. Considering positive findings in seizure history and intracranial vascular anomalies in the first case, the anesthetic management was modified to omit hypotensive anesthesia because of the potential risk of intracranial pressure elevation. Primarily, both patients underwent 2-jaw orthognathic surgery and facial bone contouring including genioplasty, zygomatic reduction, buccal fat pad removal, and masseter reduction without major complications. In the second step, the volume and distribution of facial soft tissues were altered by surgical resection and reposition. Both patients were satisfied with the surgical result. Conclusions: Our multidisciplinary algorithm can systematically detect potential risk factors. Correction of the asymmetric face by successive bone and soft-tissue surgery enables the patients to reduce their psychosocial burden and increase their quality of life. PMID:27622111

Digital analysis of facial landmarks in determining facial midline among Punjabi population

Directory of Open Access Journals (Sweden)

Nirmal Kurian

2018-01-01

Full Text Available Introduction: Prosthodontic rehabilitation aims to achieve the best possible facial esthetic appearance for a patient. Attaining facial symmetry forms the basic element for esthetics, and knowledge of the midline of face will result in a better understanding of dentofacial esthetics. Currently, there are no guidelines that direct the choice of specific anatomic landmarks to determine the midline of the face or mouth. Most clinicians choose one specific anatomic landmark and an imaginary line passing through it. Thus, the clinician is left with no established guidelines to determine facial midline. Objective: The purpose of the study is to digitally determine the relationship of facial landmarks with midline of face and formulate a guideline for choosing anatomic landmark among Punjabi population. Materials and Methods: Three commonly used anatomic landmarks, namely nasion, tip of the nose, and tip of the philtrum, were marked clinically on 100 participants (age range: 21–45 years. Frontal full-face digital images of the participants in smile were then made under standardized conditions. Midline analysis was carried out digitally using an image analyzing software. The entire process of midline analysis was done by a single observer and repeated twice. Reliability analysis and one-sample t-tests were conducted. Results: The results indicated that each of the four landmarks deviated uniquely and significantly (P < 0.001 from the midlines of the face as well as the mouth. Conclusions: Within the limitations of the study, the hierarchy of anatomic landmarks closest to the midline of the face in smile was as follows: (1 Intercommissural midlines, (2 Tip of philtrum, (3 Nasion, (4 Tip of the nose, and (5 Dental midlines. The hierarchy of anatomical landmarks closest to the intercommissural/mouth midline was: (1 Tip of philtrum, (2 Tip of the nose, (3 Nasion, and (4 dental midline.

The use of botulinum toxin type A in cosmetic facial procedures

NARCIS (Netherlands)

Jaspers, G. W. C.; Pijpe, J.; Jansma, J.

Over the past decade, facial cosmetic procedures have become more commonplace ill dentistry and oral and maxillofacial surgery. An increasing number of patients seek minimal invasive procedures. One of the most requested procedures is treatment with botulinum toxin type A (BoNTA). Treatment of

Annotation: Velo-Cardio-Facial Syndrome

Science.gov (United States)

Murphy, K. C.

2005-01-01

Background: Velo-cardio-facial syndrome (VCFS), the most frequent known interstitial deletion identified in man, is associated with chromosomal microdeletions in the q11 band of chromosome 22. Individuals with VCFS are reported to have a characteristic behavioural phenotype with high rates of behavioural, psychiatric, neuropsychological and…

Oral and dental findings of griscelli syndrome type 3

Directory of Open Access Journals (Sweden)

Ozlem Marti Akgun

2015-09-01

Full Text Available Griscelli syndrome (GS is a rare autosomal recessive genetic disorder characterized by variable immunodeficiency, partial albinism, abnormal accumulation of melanosomes in melanocytes, pigmentary dilution of the skin, and shiny silver-gray hair. GS has three types, with the first and second types caused by mutations in two genes being located at band 15q21: RAB27A and MYO5A. The expression of the third form of GS is restricted to the characteristic hypopigmentation of GS, and results from mutation in the gene that encodes melanophilin MLPH. It has also been shown that an identical phenotype can result from the deletion of the MYO5A F-exon. The aim of this case report is the presentation of oral and dental features and SEM images of the hair of a 12-year-old girl with GS type 3. [Arch Clin Exp Surg 2015; 4(3.000: 164-167

Eagle's syndrome with facial palsy

Directory of Open Access Journals (Sweden)

Mohammed Al-Hashim

2017-01-01

Full Text Available Eagle's syndrome (ES is a rare disease in which the styloid process is elongated and compressing adjacent structures. We describe a rare presentation of ES in which the patient presented with facial palsy. Facial palsy as a presentation of ES is very rare. A review of the English literature revealed only one previously reported case. Our case is a 39-year-old male who presented with left facial palsy. He also reported a 9-year history of the classical symptoms of ES. A computed tomography scan with three-dimensional reconstruction confirmed the diagnoses. He was started on conservative management but without significant improvement. Surgical intervention was offered, but the patient refused. It is important for otolaryngologists, dentists, and other specialists who deal with head and neck problems to be able to recognize ES despite its rarity. Although the patient responded to a treatment similar to that of Bell's palsy because of the clinical features and imaging, ES was most likely the cause of his facial palsy.

Professional assessment of facial profile attractiveness.

Science.gov (United States)

Soh, Jen; Chew, Ming Tak; Wong, Hwee Bee

2005-08-01

The aim of this study was to compare the assessments of Chinese facial profile attractiveness by orthodontists and oral surgeons. The sample comprised 31 dental professionals (20 orthodontists, 11 oral surgeons) in an Asian community. Facial profile photographs and lateral cephalometric radiographs of 2 Chinese adults (1 man, 1 woman) with normal profiles, Class I incisor relationships, and Class I skeletal patterns were digitized. The digital images were modified by altering cephalometric skeletal and dental hard tissue Chinese normative values in increments of 2 standard deviations in the anteroposterior plane to obtain 7 facial profiles for each sex. The images were bimaxillary protrusion, protrusive mandible, retrusive mandible, normal profile (Class I incisor with Class I skeletal pattern), retrusive maxilla, protrusive maxilla, and bimaxillary retrusion. The Mann-Whitney U test was used to determine professional differences in assessment. Multiple regression analysis was performed with age, professional status, sex, and number of years in practice as independent variables. A strong correlation was found in the profile assessment between orthodontists and oral surgeons. Normal and bimaxillary retrusive Chinese male and female profiles were judged to be highly attractive by orthodontists and oral surgeons. Chinese male and female profiles with protrusive mandibles were judged the least attractive. There was a difference in professional opinion about the most attractive male profile (P profile and oral surgeons preferring a fuller normal Chinese profile. Sex of dental professionals and number of years in clinical practice were found to affect profile rankings.

The localization of facial motor impairment in sporadic Möbius syndrome.

Science.gov (United States)

Cattaneo, L; Chierici, E; Bianchi, B; Sesenna, E; Pavesi, G

2006-06-27

To investigate the neurophysiologic aspects of facial motor control in patients with sporadic Möbius syndrome defined as nonprogressive congenital facial and abducens palsy. The authors assessed 24 patients with sporadic Möbius syndrome by performing a complete clinical examination and neurophysiologic tests including facial nerve conduction studies, needle electromyography examination of facial muscles, and recording of the blink reflex and of the trigeminofacial inhibitory reflex. Two distinct groups of patients were identified according to neurophysiologic testing. The first group was characterized by increased facial distal motor latencies (DMLs) and poor recruitment of small and polyphasic motor unit action potentials (MUAPs). The second group was characterized by normal facial DMLs and neuropathic MUAPs. It is hypothesized that in the first group, the disorder is due to a rhombencephalic maldevelopment with selective sparing of small-size MUs, and in the second group, the disorder is related to an acquired nervous injury during intrauterine life, with subsequent neurogenic remodeling of MUs. The trigeminofacial reflexes showed that in most subjects of both groups, the functional impairment of facial movements was caused by a nuclear or peripheral site of lesion, with little evidence of brainstem interneuronal involvement. Two different neurophysiologically defined phenotypes can be distinguished in sporadic Möbius syndrome, with different pathogenetic implications.

Advanced oral HIV-associated Kaposi sarcoma with facial ...

African Journals Online (AJOL)

Rapidly progressive facial lymphoedoema that develops concurrently with or immediately after rapid enlargement of oral Kaposi sarcoma in human immunodeficiency virus (HIV) -seropositive persons forebodes death. Previously, we reported on three patients with HIV-associated Kaposi sarcoma who had not been ...

Orofacial functions and oral health associated with Treacher Collins syndrome.

Science.gov (United States)

Asten, Pamela; Skogedal, Nina; Nordgarden, Hilde; Axelsson, Stefan; Akre, Harriet; Sjögreen, Lotta

2013-01-01

The aim of this study was to describe orofacial features and functions and oral health associated with Treacher Collins syndrome (TCS) in relation to the variable phenotypic expression of the condition. The Nordic Orofacial Test-Screening (NOT-S), MHC Questionnaire, MHC Observation chart and clinical examinations of nasal and pharyngeal conditions and chewing and swallowing function were used to assess 19 individuals aged 5-74 years (median 34 years). TCS severity scores were calculated by a clinical geneticist. Orofacial features characterizing the study group were altered profile, increased mandibular angle, narrow hypopharynx and facial asymmetry. Basic orofacial functions such as breathing, eating, facial expression and speech were affected in all subjects demonstrating orofacial dysfunction in at least two NOT-S domains (median NOT-S total score 4/12, range 2-7). Significant correlation was found between the TCS severity scores reflecting phenotypic expression and the NOT-S total scores reflecting orofacial function. Self-reported experience of dry oral mucosa was common. Overall, dental health was good with few carious lesions diagnosed, but considerable need for orthodontic treatment was documented. Altered orofacial features and functions in TCS are common and often persist into late adolescence and adulthood. The functional level was correlated with the phenotypic variability of the condition. The standard of oral health was satisfactory. The findings indicated that individuals with TCS are likely to require lifelong health services related to their oral condition.

Ambras Syndrome: First Reported Case in Bangladesh and its Oral Rehabilitation.

Science.gov (United States)

Khan, M H; Ashrafuzzaman, S M; Taib, A N; Alam, M T; Khan, S H; Goldstein, S K; Rahman, R

2015-10-01

People with rare hypertrichosis syndromes became crowd-drawing money-making phenomena in many 19th century sideshow acts. These individuals have been referred to as dog-men, hair-men, and werewolves. In 1993, Baumister et al. described congenital hypertrichosis lanuginose or Ambras syndrome: a distinct form of congenital hypertrichosis characterized by excessive hair growth over the body and face associated with facial and occasional dental anomalies. Much is not known about this syndrome since fewer than 50 cases have been documented worldwide. In this case report, a nine year old girl presented with excessive hair growth throughout her body that was denser along her midline. Furthermore, her face displayed the typical dysmorphic features characteristic of Ambras syndrome: a round tip nose, thickened nasal cartilage, antiverted nares, prominent philtrum with deep groove, and a trapezoid mouth. Oral examination revealed normal oral mucosa with completely missing and unerupted decidious and permanent teeth. Panoramic radiographs confirmed unerupted deciduous teeth. Previous case reports have mentioned the presence of occasional dental anomalies such as retarded first and second dentition and absence of some teeth. However, this is the first reported case of Ambras syndrome presenting with complete anodontia. Prior cytogenetic studies performed on persons with Ambras syndrome have implicated a balanced pericentric inversion of chromosome 8. However, it is likely that dental anomalies are likely a result of a different genetic rearrangement. Further studies are needed to explore the cause of this rare phenotype of Ambras syndrome with complete unerupted dentition.

Clinical and Molecular Investigations Into Ciliopathies

Science.gov (United States)

2018-03-27

Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

Recognition of facial expressions and prosodic cues with graded emotional intensities in adults with Asperger syndrome.

Science.gov (United States)

Doi, Hirokazu; Fujisawa, Takashi X; Kanai, Chieko; Ohta, Haruhisa; Yokoi, Hideki; Iwanami, Akira; Kato, Nobumasa; Shinohara, Kazuyuki

2013-09-01

This study investigated the ability of adults with Asperger syndrome to recognize emotional categories of facial expressions and emotional prosodies with graded emotional intensities. The individuals with Asperger syndrome showed poorer recognition performance for angry and sad expressions from both facial and vocal information. The group difference in facial expression recognition was prominent for stimuli with low or intermediate emotional intensities. In contrast to this, the individuals with Asperger syndrome exhibited lower recognition accuracy than typically-developed controls mainly for emotional prosody with high emotional intensity. In facial expression recognition, Asperger and control groups showed an inversion effect for all categories. The magnitude of this effect was less in the Asperger group for angry and sad expressions, presumably attributable to reduced recruitment of the configural mode of face processing. The individuals with Asperger syndrome outperformed the control participants in recognizing inverted sad expressions, indicating enhanced processing of local facial information representing sad emotion. These results suggest that the adults with Asperger syndrome rely on modality-specific strategies in emotion recognition from facial expression and prosodic information.

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).

NARCIS (Netherlands)

Hagleitner, M.M.; Lankester, A.; Maraschio, P.; Hulten, M.; Fryns, J.P.; Schuetz, C.; Gimelli, G.; Davies, E.G.; Gennery, A.R.; Belohradsky, B.H.; Groot, R. de; Gerritsen, E.J.; Mattina, T.; Howard, P.J.; Fasth, A.; Reisli, I.; Furthner, D.; Slatter, M.A.; Cant, A.J.; Cazzola, G.; Dijken, P.J. van; Deuren, M. van; Greef, J.C. de; Maarel, S.M. van der; Weemaes, C.M.R.

2008-01-01

BACKGROUND: Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 and 16 after PHA stimulation of lymphocytes. Hypomethylation of DNA of a

Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Literature.

Science.gov (United States)

Depeyre, Arnaud; Schlund, Matthias; Gryseleyn, Rémi; Ferri, Joel

2018-03-29

Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. Currently, the diagnosis of Aarskog-Scott syndrome (ASS) is based on clinical dysmorphologic findings and can be supported by genetic examination. This report describes 3 brothers already diagnosed with ASS who were referred for examination of oral and maxillofacial malformations associated with ASS. They presented classic features of ASS, such as digital and genital (shawl scrotum) anomalies. More specifically, in terms of orbitopalpebral malformations, they showed marked ptosis with hypertelorism and antimongoloid palpebral fissure that gave them the characteristic facies. Concerning their oral and maxillofacial malformations, they had dental and skeletal major discrepancies and some dental agenesia. ASS is a rare X-linked syndrome composed of numerous morphologic facial, digital, and genital anomalies. The diagnosis is established genetically with the FGD1 mutation but there is no phenotypic and genotypic correlation with FGD1 mutations. Concerning maxillofacial malformations, maxillary and mandibular hypoplasia with jaw discrepancies can be found, as can teeth anomalies. It seems that these anomalies are widely underestimated. Copyright © 2018 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

Thoughts on the behavioural phenotypes in Prader-Willi syndrome and velo-cardio-facial syndrome: A novel approach

NARCIS (Netherlands)

Verhoeven, W.M.A.; Egger, J.I.M.; Tuinier, S.

2007-01-01

In both Prader-Willi syndrome (PWS) and 22q11 deletion syndrome [velo-cardio-facial syndrome (VCFS)], an increased risk for psychotic disorders is reported, which are as a rule not included in the behavioural phenotype of these two syndromes. For the description of a behavioural phenotype, the

Peripheral facial palsy: Speech, communication and oral motor function.

Science.gov (United States)

Movérare, T; Lohmander, A; Hultcrantz, M; Sjögreen, L

2017-02-01

The aim of the present study was to examine the effect of acquired unilateral peripheral facial palsy on speech, communication and oral functions and to study the relationship between the degree of facial palsy and articulation, saliva control, eating ability and lip force. In this descriptive study, 27 patients (15 men and 12 women, mean age 48years) with unilateral peripheral facial palsy were included if they were graded under 70 on the Sunnybrook Facial Grading System. The assessment was carried out in connection with customary visits to the ENT Clinic and comprised lip force, articulation and intelligibility, together with perceived ability to communicate and ability to eat and control saliva conducted through self-response questionnaires. The patients with unilateral facial palsy had significantly lower lip force, poorer articulation and ability to eat and control saliva compared with reference data in healthy populations. The degree of facial palsy correlated significantly with lip force but not with articulation, intelligibility, perceived communication ability or reported ability to eat and control saliva. Acquired peripheral facial palsy may affect communication and the ability to eat and control saliva. Physicians should be aware that there is no direct correlation between the degree of facial palsy and the possible effect on communication, eating ability and saliva control. Physicians are therefore recommended to ask specific questions relating to problems with these functions during customary medical visits and offer possible intervention by a speech-language pathologist or a physiotherapist. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

A new paradigm of oral cancer detection using digital infrared thermal imaging

Science.gov (United States)

Chakraborty, M.; Mukhopadhyay, S.; Dasgupta, A.; Banerjee, S.; Mukhopadhyay, S.; Patsa, S.; Ray, J. G.; Chaudhuri, K.

2016-03-01

Histopathology is considered the gold standard for oral cancer detection. But a major fraction of patient pop- ulation is incapable of accessing such healthcare facilities due to poverty. Moreover, such analysis may report false negatives when test tissue is not collected from exact cancerous location. The proposed work introduces a pioneering computer aided paradigm of fast, non-invasive and non-ionizing modality for oral cancer detection us- ing Digital Infrared Thermal Imaging (DITI). Due to aberrant metabolic activities in carcinogenic facial regions, heat signatures of patients are different from that of normal subjects. The proposed work utilizes asymmetry of temperature distribution of facial regions as principle cue for cancer detection. Three views of a subject, viz. front, left and right are acquired using long infrared (7:5 - 13μm) camera for analysing distribution of temperature. We study asymmetry of facial temperature distribution between: a) left and right profile faces and b) left and right half of frontal face. Comparison of temperature distribution suggests that patients manifest greater asymmetry compared to normal subjects. For classification, we initially use k-means and fuzzy k-means for unsupervised clustering followed by cluster class prototype assignment based on majority voting. Average classification accuracy of 91:5% and 92:8% are achieved by k-mean and fuzzy k-mean framework for frontal face. The corresponding metrics for profile face are 93:4% and 95%. Combining features of frontal and profile faces, average accuracies are increased to 96:2% and 97:6% respectively for k-means and fuzzy k-means framework.

A Virtual Environment to Improve the Detection of Oral-Facial Malfunction in Children with Cerebral Palsy.

Science.gov (United States)

Martín-Ruiz, María-Luisa; Máximo-Bocanegra, Nuria; Luna-Oliva, Laura

2016-03-26

The importance of an early rehabilitation process in children with cerebral palsy (CP) is widely recognized. On the one hand, new and useful treatment tools such as rehabilitation systems based on interactive technologies have appeared for rehabilitation of gross motor movements. On the other hand, from the therapeutic point of view, performing rehabilitation exercises with the facial muscles can improve the swallowing process, the facial expression through the management of muscles in the face, and even the speech of children with cerebral palsy. However, it is difficult to find interactive games to improve the detection and evaluation of oral-facial musculature dysfunctions in children with CP. This paper describes a framework based on strategies developed for interactive serious games that is created both for typically developed children and children with disabilities. Four interactive games are the core of a Virtual Environment called SONRIE. This paper demonstrates the benefits of SONRIE to monitor children's oral-facial difficulties. The next steps will focus on the validation of SONRIE to carry out the rehabilitation process of oral-facial musculature in children with cerebral palsy.

Facial emotion recognition in Williams syndrome and Down syndrome: A matching and developmental study.

Science.gov (United States)

Martínez-Castilla, Pastora; Burt, Michael; Borgatti, Renato; Gagliardi, Chiara

2015-01-01

In this study both the matching and developmental trajectories approaches were used to clarify questions that remain open in the literature on facial emotion recognition in Williams syndrome (WS) and Down syndrome (DS). The matching approach showed that individuals with WS or DS exhibit neither proficiency for the expression of happiness nor specific impairments for negative emotions. Instead, they present the same pattern of emotion recognition as typically developing (TD) individuals. Thus, the better performance on the recognition of positive compared to negative emotions usually reported in WS and DS is not specific of these populations but seems to represent a typical pattern. Prior studies based on the matching approach suggested that the development of facial emotion recognition is delayed in WS and atypical in DS. Nevertheless, and even though performance levels were lower in DS than in WS, the developmental trajectories approach used in this study evidenced that not only individuals with DS but also those with WS present atypical development in facial emotion recognition. Unlike in the TD participants, where developmental changes were observed along with age, in the WS and DS groups, the development of facial emotion recognition was static. Both individuals with WS and those with DS reached an early maximum developmental level due to cognitive constraints.

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome

OpenAIRE

Dieks, Jana-Katharina; Baumer, Alessandra; Wilichowski, Ekkehard; Rauch, Anita; Sigler, Matthias

2014-01-01

To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome. In microcephalic osteodysplastic primordial dwarfism type II (MOPD II; disproportionate short statue, microcephaly, facial abnormalities), however, cerebral aneurysms and other vascular abnormalities are frequent complications. MOPD II is a genetic disorder caused by mutations in the pericentrin (PC...

The facial nerve: anatomy and associated disorders for oral health professionals.

Science.gov (United States)

Takezawa, Kojiro; Townsend, Grant; Ghabriel, Mounir

2018-04-01

The facial nerve, the seventh cranial nerve, is of great clinical significance to oral health professionals. Most published literature either addresses the central connections of the nerve or its peripheral distribution but few integrate both of these components and also highlight the main disorders affecting the nerve that have clinical implications in dentistry. The aim of the current study is to provide a comprehensive description of the facial nerve. Multiple aspects of the facial nerve are discussed and integrated, including its neuroanatomy, functional anatomy, gross anatomy, clinical problems that may involve the nerve, and the use of detailed anatomical knowledge in the diagnosis of the site of facial nerve lesion in clinical neurology. Examples are provided of disorders that can affect the facial nerve during its intra-cranial, intra-temporal and extra-cranial pathways, and key aspects of clinical management are discussed. The current study is complemented by original detailed dissections and sketches that highlight key anatomical features and emphasise the extent and nature of anatomical variations displayed by the facial nerve.

[Emergency cesarean in a patient with Coffin-Siris syndrome].

Science.gov (United States)

Fornet, I; Morillas, P; López, M A; Palacio, F J; Aguilar, J M; Mesa, J L

2007-11-01

Coffin-Siris syndrome is a rare genetic disease characterized by coarse facial features, sparse scalp hair, hirsutism, hypoplasia of the distal phalanges, hypoplastic nail in the fifth digit, and mental retardation and delayed growth evident in both weight and height. Most cases are sporadic, but the possibility of recessive or dominant autosomal inheritance has been suggested. Facial abnormalities that make intubation difficult and mental retardation that interferes with cooperation are aspects of this disease that can affect the choice of type of anesthesia. We report the case of a parturient with Coffin-Siris syndrome who refused epidural analgesia for labor pain and for whom the obstetrician later decided that an emergency cesarean was necessary due to fetal distress.

A Virtual Environment to Improve the Detection of Oral-Facial Malfunction in Children with Cerebral Palsy

Directory of Open Access Journals (Sweden)

María-Luisa Martín-Ruiz

2016-03-01

Full Text Available The importance of an early rehabilitation process in children with cerebral palsy (CP is widely recognized. On the one hand, new and useful treatment tools such as rehabilitation systems based on interactive technologies have appeared for rehabilitation of gross motor movements. On the other hand, from the therapeutic point of view, performing rehabilitation exercises with the facial muscles can improve the swallowing process, the facial expression through the management of muscles in the face, and even the speech of children with cerebral palsy. However, it is difficult to find interactive games to improve the detection and evaluation of oral-facial musculature dysfunctions in children with CP. This paper describes a framework based on strategies developed for interactive serious games that is created both for typically developed children and children with disabilities. Four interactive games are the core of a Virtual Environment called SONRIE. This paper demonstrates the benefits of SONRIE to monitor children’s oral-facial difficulties. The next steps will focus on the validation of SONRIE to carry out the rehabilitation process of oral-facial musculature in children with cerebral palsy.

[Facial diplegia with atypical paresthesia. A variant of Guillain-Barré syndrome].

Science.gov (United States)

Dal Verme, Agustín; Acosta, Paula; Margan, Mercedes; Pagnini, Cecilia; Dellepiane, Eugenia; Peralta, Christian

2015-01-01

Guillain-Barré syndrome is an acute demyelinating disease which presents in a classic form with muscular weakness and the lack of reflexes. There are multiple variations and atypical forms of the disease, being facial diplegia with paresthesia one of them. Also, the absence of reflexes in this syndrome is typical but not constant, since 10% of patients present reflexes. We describe a case of atypical presentation with bilateral facial palsy, paresthesia, brisk reflexes and weakness in the lower limbs in a 33 year old woman.

Oral contraceptives may alter the detection of emotions in facial expressions.

Science.gov (United States)

Hamstra, Danielle A; De Rover, Mischa; De Rijk, Roel H; Van der Does, Willem

2014-11-01

A possible effect of oral contraceptives on emotion recognition was observed in the context of a clinical trial with a corticosteroid. Users of oral contraceptives detected significantly fewer facial expressions of sadness, anger and disgust than non-users. This was true for trial participants overall as well as for those randomized to placebo. Although it is uncertain whether this is an effect of oral contraceptives or a pre-existing difference, future studies on the effect of interventions should control for the effects of oral contraceptives on emotional and cognitive outcomes. Copyright © 2014 Elsevier B.V. and ECNP. All rights reserved.

[Cochlear implantation in patients with Waardenburg syndrome type II].

Science.gov (United States)

Wan, Liangcai; Guo, Menghe; Chen, Shuaijun; Liu, Shuangriu; Chen, Hao; Gong, Jian

2010-05-01

To describe the multi-channel cochlear implantation in patients with Waardenburg syndrome including surgeries, pre and postoperative hearing assessments as well as outcomes of speech recognition. Multi-channel cochlear implantation surgeries have been performed in 12 cases with Waardenburg syndrome type II in our department from 2000 to 2008. All the patients received multi-channel cochlear implantation through transmastoid facial recess approach. The postoperative outcomes of 12 cases were compared with 12 cases with no inner ear malformation as a control group. The electrodes were totally inserted into the cochlear successfully, there was no facial paralysis and cerebrospinal fluid leakage occurred after operation. The hearing threshold in this series were similar to that of the normal cochlear implantation. After more than half a year of speech rehabilitation, the abilities of speech discrimination and spoken language of all the patients were improved compared with that of preoperation. Multi-channel cochlear implantation could be performed in the cases with Waardenburg syndrome, preoperative hearing and images assessments should be done.

Efficacy of Botulinum Toxin Injections in the Treatment of Various Types of Facial Region Disorders

Directory of Open Access Journals (Sweden)

Arzu Çoban

2012-12-01

Full Text Available OBJECTIVE: Local injection of botulinum toxin is a highly effective treatment option for a wide range of movement disorders and there are reliable sources of information on its indications, effects and safety in clinical practice. In this study, we report our experience with botulinum toxin in the treatment of facial region disorders. METHODS: Patients who had been followed in the Botulinum Toxin Outpatient Clinic of the Neurology Department were retrospectively evaluated. Two preparations of botulinum toxin type A (BT-A were used. The efficacy of BT-A injections was rated according to the improvement in symptoms as follows: marked - 75-100% improvement, good - 50-74%, moderate - 25-49%, and insufficient - less than 25% symptom relief. RESULTS: One hundred eighty-two patients (73 male, 109 female with various facial region disorders were included. The efficacy rates for patients who had very good and good improvement were high in the treatment of blepharospasm, hemifacial spasm, facial synkinesis, and Meige syndrome and moderate for oromandibular dystonia and hypersalivation. Ptosis was the most common side effect. CONCLUSION: According to our results, botulinum toxin was very effective treatment for blepharospasm, Meige syndrome, hemifacial spasm and facial synkinesis, whereas it demonstrated good efficacy in oromandibular dystonia and hypersalivation

Recognition of Facial Expressions and Prosodic Cues with Graded Emotional Intensities in Adults with Asperger Syndrome

Science.gov (United States)

Doi, Hirokazu; Fujisawa, Takashi X.; Kanai, Chieko; Ohta, Haruhisa; Yokoi, Hideki; Iwanami, Akira; Kato, Nobumasa; Shinohara, Kazuyuki

2013-01-01

This study investigated the ability of adults with Asperger syndrome to recognize emotional categories of facial expressions and emotional prosodies with graded emotional intensities. The individuals with Asperger syndrome showed poorer recognition performance for angry and sad expressions from both facial and vocal information. The group…

Facial and Ocular Features of Marfan Syndrome

Directory of Open Access Journals (Sweden)

Juan C. Leoni

2014-10-01

Full Text Available Marfan syndrome is the most common inherited disorder of connective tissue affecting multiple organ systems. Identification of the facial, ocular and skeletal features should prompt referral for aortic imaging since sudden death by aortic dissection and rupture remains a major cause of death in patients with unrecognized Marfan syndrome. Echocardiography is recommended as the initial imaging test, and once a dilated aortic root is identified magnetic resonance or computed tomography should be done to assess the entire aorta. Prophylactic aortic root replacement is safe and has been demonstrated to improve life expectancy in patients with Marfan syndrome. Medical therapy for Marfan syndrome includes the use of beta blockers in older children and adults with an enlarged aorta. Addition of angiotensin receptor antagonists has been shown to slow the progression of aortic root dilation compared to beta blockers alone. Lifelong and regular follow up in a center for specialized care is important for patients with Marfan syndrome. We present a case of a patient with clinical features of Marfan syndrome and discuss possible therapeutic interventions for her dilated aorta.

A VALIDATION STUDY OF THE FACIAL-ORAL TRACT THERAPY SWALLOWING ASSESSMENT OF SALIVA

DEFF Research Database (Denmark)

Mortensen, Jesper; Jensen, Ditte; Kjærsgaard, Annette

Introduction Facial-Oral Tract Therapy (F.O.T.T.) (1) is an approach that provides both clinical assessment and treatment of oropharyngeal dysphagia. In the F.O.T.T. approach, a prerequisite for the initiation of oral intake is safe swallowing of saliva. A recent randomized controlled trial (2...

Oral and facial piercings: a case series and review of the literature.

Science.gov (United States)

López-Jornet, Pía; Navarro-Guardiola, Cristina; Camacho-Alonso, Fabio; Vicente-Ortega, Vicente; Yánez-Gascon, Josefa

2006-07-01

Piercing is popular among young people, who view this practice as a sign of marginality, beauty, or group identity. This study is performed on healthy individuals with oral and facial piercings. Seventy oral and facial piercings were evaluated (17 in the tongue, 13 in the lower lip, 18 in the nostril, 7 in the eyebrow, and 15 in the ear). A specifically designed protocol was used to assess possible complications (inflammatory reactions, pain, dental alterations). Nonparametric tests were used for the statistical analysis of the results. The general complications recorded comprised pain (60% of cases), inflammatory reactions (34.3%), bleeding (24%), dental fractures or fissures (20%), and gingival damage (26.7%). Tongue piercing is associated with pain, inflammatory reactions, and dental problems.

[PHACES syndrome].

Science.gov (United States)

Morcillo Azcárate, J; Bernabeu-Wittel, J; Fernández-Pineda, I; Conejo-Mir, M D; Tuduri Limousin, I; Aspiazu Salinas, D A; de Agustín Asensio, J C

2010-04-01

PHACES syndrome associates a segmental facial hemangioma with cerebral malformations, aortic branches/cranial arteries anomalies, cardiac defects, eye anomalies or ventral wall defects. The aim of this study is to analyze our experience with this syndrome. Retrospective study of the cases seen at our unit in the last year. We treat 4 cases; 3 girls and 1 child. Besides the segmental hemangioma they presented: 3 vascular cerebral malformations; 2 structural cardiopathies; 2 cerebral malformations, 1 microftalmia. We did not find ventral wall defects. A case received treatment with two cycles of metilprednisolone i.v. and oral prednisone, with favourable course; two cases received initial treatment with oral prednisone continued of oral propanolol in rising pattern up to 2 mg/kg/day, Obtaining both the detention of the tumour growth and regression of the lesion, with very good tolerance. A 7-year-old patient has been treated with colouring pulse laser for her residual lesions. When we see a segmental facial hemangioma we must perform a wide diagnostic study in order to discard a PHACES syndrome. Multidisciplinar approach to the patient by a wide expert's group gets an earlier diagnose and improves the outcome. Propranolol is a promising therapeutic alternative.

Photometric analysis applied in determining facial type

Directory of Open Access Journals (Sweden)

Luciana Flaquer Martins

2012-10-01

Full Text Available INTRODUCTION: In orthodontics, determining the facial type is a key element in the prescription of a correct diagnosis. In the early days of our specialty, observation and measurement of craniofacial structures were done directly on the face, in photographs or plaster casts. With the development of radiographic methods, cephalometric analysis replaced the direct facial analysis. Seeking to validate the analysis of facial soft tissues, this work compares two different methods used to determining the facial types, the anthropometric and the cephalometric methods. METHODS: The sample consisted of sixty-four Brazilian individuals, adults, Caucasian, of both genders, who agreed to participate in this research. All individuals had lateral cephalograms and facial frontal photographs. The facial types were determined by the Vert Index (cephalometric and the Facial Index (photographs. RESULTS: The agreement analysis (Kappa, made for both types of analysis, found an agreement of 76.5%. CONCLUSIONS: We concluded that the Facial Index can be used as an adjunct to orthodontic diagnosis, or as an alternative method for pre-selection of a sample, avoiding that research subjects have to undergo unnecessary tests.INTRODUÇÃO: em Ortodontia, a determinação do tipo facial é um elemento-chave na prescrição de um diagnóstico correto. Nos primórdios de nossa especialidade, a observação e a medição das estruturas craniofaciais eram feitas diretamente na face, em fotografias ou em modelos de gesso. Com o desenvolvimento dos métodos radiográficos, a análise cefalométrica foi substituindo a análise facial direta. Visando legitimar o estudo dos tecidos moles faciais, esse trabalho comparou a determinação do tipo facial pelos métodos antropométrico e cefalométrico. MÉTODOS: a amostra constou de sessenta e quatro indivíduos brasileiros, adultos, leucodermas, de ambos os sexos, que aceitaram participar da pesquisa. De todos os indivíduos da amostra

Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome.

Science.gov (United States)

Bayram, M; Yildirim, M; Seymen, F

2015-02-01

The Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth condition characterised by macrosomia, mental deficiency, large head, prominent skull sutures, midface deficiency, hypertelorism, broad nose, wide mouth, macroglossia, malocclusion, highly arched palate, and musculoskeletal and limb abnormalities. The aim of this case report is to present clinical and oral findings of an 8-year-old boy who had been diagnosed with SGBS. This patient had supernumerary nipples on the right side, cubitus valgus webbed fingers, scoliosis, umbilical hernia, a coarse face, macrocephaly, hypertelorism, a short broad nose, a wide mouth, a straight facial profile and hearing loss. The patient also had macroglossia, diastemas, over-retained primary tooth, absent mandibular permanent central incisors, and highly arched palate. Lateral cephalometric analysis revealed a large anterior cranial base, a large maxilla and mandible, a large inferior face height, and skeletal Class III jaw relationship. After extraction of the over-retained primary central tooth, a partial prosthesis was fabricated in order to maintain function. The patient has been recalled regularly at 6-month intervals for 2 years. Over the following years the prosthesis was replaced due to facial growth. Long term follow-up is essential for the patient with SGBS. Preventive dental care, including oral hygiene instructions, diet counselling and the use of fluoride has been implemented.

Face Processing and Facial Emotion Recognition in Adults with Down Syndrome

Science.gov (United States)

Barisnikov, Koviljka; Hippolyte, Loyse; Van der Linden, Martial

2008-01-01

Face processing and facial expression recognition was investigated in 17 adults with Down syndrome, and results were compared with those of a child control group matched for receptive vocabulary. On the tasks involving faces without emotional content, the adults with Down syndrome performed significantly worse than did the controls. However, their…

[Contribution of platelet concentrates to oral and maxillo-facial surgery].

Science.gov (United States)

Bettega, G; Schir, E

2012-09-01

We evaluated the clinical contribution of platelet concentrates to oral and maxillo-facial surgery. This bibliographic research was made using the PubMed MeSH database with the following keywords: "platelet rich fibrin" (PRF), "platelet rich plasma" (PRP), "bone", "facial bone", "dental implant", and "blood platelet". The research was made without any date or language limitation since English summaries were available. All summaries were read to evaluate the relevance of the article. Only original articles and case reports were considered. The articles were classified as "in vitro studies", "animal experiments", or "clinical studies". The research was stopped on March 22, 2012. One hundred and sixty-nine articles were validated after excluding irrelevant articles, reviews, technical notes, and articles without English or French summaries. Seventeen were in vitro studies, 61 animal experiments, and 91 clinical studies. One hundred and ten complete articles were read to complete summary data. The data of in vitro studies univocally supports of using platelet concentrates. The data from animal experiment studies was less consensual and the validity of animal models was contested. The disparity of clinical study designs and the lack of rigorous methodology did not allow clearly determining platelet concentrate benefits for oral and maxillo-facial surgery. PRF or PRP clinical benefit has not been clearly demonstrated yet. French regulations relative to their use should be clarified. Copyright © 2012. Published by Elsevier Masson SAS.

Multiple Hamartoma Syndrome with Characteristic Oral and Cutaneous Manifestations

Directory of Open Access Journals (Sweden)

Prashanthi Chippagiri

2013-01-01

Full Text Available Aim. To present a case of Cowden's syndrome and emphasize the importance of continued cancer surveillance in these patients. Cowden syndrome is an inherited autosomal dominant trait with incomplete penetrance and a range of expressivity. It is characterized by multiple hamartomas and neoplasms. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here, we report a case of Cowdens syndrome of a 30-year-old female patient who came with a complaint of multiple growths in the oral cavity of a three-month duration. On examination, multiple skin-colored, flat-topped papules over her forehead and right malar bone and multiple papillomatous papules involving all the mucosal surfaces intraorally were observed. This syndrome is associated with the development of several types of malignancies, especially breast carcinoma and thyroid carcinoma, which is why early recognition and regular and vigilant surveillance of individuals with the syndrome are important.

3D digital stereophotogrammetry: a practical guide to facial image acquisition

Directory of Open Access Journals (Sweden)

Upson Kristen

2010-07-01

Full Text Available Abstract The use of 3D surface imaging technology is becoming increasingly common in craniofacial clinics and research centers. Due to fast capture speeds and ease of use, 3D digital stereophotogrammetry is quickly becoming the preferred facial surface imaging modality. These systems can serve as an unparalleled tool for craniofacial surgeons, proving an objective digital archive of the patient's face without exposure to radiation. Acquiring consistent high-quality 3D facial captures requires planning and knowledge of the limitations of these devices. Currently, there are few resources available to help new users of this technology with the challenges they will inevitably confront. To address this deficit, this report will highlight a number of common issues that can interfere with the 3D capture process and offer practical solutions to optimize image quality.

Ehlers-Danlos syndrome type IV

Directory of Open Access Journals (Sweden)

Germain Dominique P

2007-07-01

Full Text Available Abstract Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS, is an inherited connective tissue disorder defined by characteristic facial features (acrogeria in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, EDS type IV representing approximately 5 to 10% of cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. Dissections of the vertebral arteries and the carotids in their extra- and intra-cranial segments (carotid-cavernous fistulae are typical. There is a high risk of recurrent colonic perforations. Pregnancy increases the likelihood of a uterine or vascular rupture. EDS type IV is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene coding for type III procollagen. Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the COL3A1 gene. In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome. Prenatal diagnosis can be considered in families where the mutation is known. Choriocentesis or amniocentesis, however, may entail risk for the pregnant woman. In the absence of specific treatment for EDS type IV, medical intervention should be focused on symptomatic treatment and prophylactic measures. Arterial, digestive or uterine complications require immediate hospitalisation, observation in an intensive care unit. Invasive imaging techniques are contraindicated. Conservative approach is usually recommended when caring for a vascular

Ehlers-Danlos syndrome type IV

Science.gov (United States)

Germain, Dominique P

2007-01-01

Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS. The estimated prevalence for all EDS varies between 1/10,000 and 1/25,000, EDS type IV representing approximately 5 to 10% of cases. The vascular complications may affect all anatomical areas, with a tendency toward arteries of large and medium diameter. Dissections of the vertebral arteries and the carotids in their extra- and intra-cranial segments (carotid-cavernous fistulae) are typical. There is a high risk of recurrent colonic perforations. Pregnancy increases the likelihood of a uterine or vascular rupture. EDS type IV is inherited as an autosomal dominant trait that is caused by mutations in the COL3A1 gene coding for type III procollagen. Diagnosis is based on clinical signs, non-invasive imaging, and the identification of a mutation of the COL3A1 gene. In childhood, coagulation disorders and Silverman's syndrome are the main differential diagnoses; in adulthood, the differential diagnosis includes other Ehlers-Danlos syndromes, Marfan syndrome and Loeys-Dietz syndrome. Prenatal diagnosis can be considered in families where the mutation is known. Choriocentesis or amniocentesis, however, may entail risk for the pregnant woman. In the absence of specific treatment for EDS type IV, medical intervention should be focused on symptomatic treatment and prophylactic measures. Arterial, digestive or uterine complications require immediate hospitalisation, observation in an intensive care unit. Invasive imaging techniques are contraindicated. Conservative approach is usually recommended when caring for a vascular complication in a patient suffering

Digital capture, design, and manufacturing of a facial prosthesis: Clinical report on a pediatric patient.

Science.gov (United States)

Grant, Gerald T; Aita-Holmes, Cynthia; Liacouras, Peter; Garnes, Johnathan; Wilson, William O

2015-07-01

A digitally captured, designed, and fabricated facial prosthesis is presented as an alternative to customary maxillofacial prosthodontics fabrication techniques, where a facial moulage and patient cooperation may be difficult. Copyright © 2015 Editorial Council for the Journal of Prosthetic Dentistry. Published by Elsevier Inc. All rights reserved.

Facial Expression of Affect in Children with Cornelia de Lange Syndrome

Science.gov (United States)

Collis, L.; Moss, J.; Jutley, J.; Cornish, K.; Oliver, C.

2008-01-01

Background: Individuals with Cornelia de Lange syndrome (CdLS) have been reported to show comparatively high levels of flat and negative affect but there have been no empirical evaluations. In this study, we use an objective measure of facial expression to compare affect in CdLS with that seen in Cri du Chat syndrome (CDC) and a group of…

Fabrication of a cranium-facial simulator for oral radiology utilization

International Nuclear Information System (INIS)

Guilardi Neto, T.

1987-01-01

The fabrication of a cranium-facial simulator for oral radiology utilization is shown, giving a solution for the problems relationship with unnecessary expouse in X-ray radiography by odontologic students. The materials used in the simulator are described, evaluating the equivalence of this material to the human tissue. The X-ray radiographies were very satisfactory. (C.G.C.) [pt

Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?

International Nuclear Information System (INIS)

Nishimura, G.; Haga, Yoshihiko; Aoki, Katsuhiko; Hasegawa, Tomoko

1998-01-01

A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft palate. The skeletal alterations included ischial hypoplasia, malformations of the cervical spine, hypoplasia of the lesser trochanters, tibial hypoplasia with bowing of the lower legs, tibio-fibular diastasis with malformed distal tibial epiphyses, clubfeet and brachymesophalangy. The constellation of clinical and radiological findings in the present patient do not fit any known malformation syndrome. (orig.)

Oral findings in Rett syndrome: a systematic review of the dental literature.

Science.gov (United States)

Fuertes-González, María-Cristina; Silvestre, Francisco-Javier; Almerich-Silla, José-Manuel

2011-01-01

Rett syndrome (RS) is a chromosome X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands, together with profound mental retardation, that almost exclusively affects females. The present review describes the 35 cases of RS published in the indexed literature (Medline)--the first corresponding to 1985 and the last to the year 2007. Certain oral manifestations of the disease are derived from the drug treatment prescribed to control the disease, while others are common to other clinical conditions characterized by convulsion activity, difficulties for correct oral hygiene, walking problems and/or an excess of oral/digital-manual habits. In any case, bruxism is the oral habit most frequently associated with RS--the treatment of which remains the subject of controversy.

From Facial Emotional Recognition Abilities to Emotional Attribution: A Study in Down Syndrome

Science.gov (United States)

Hippolyte, Loyse; Barisnikov, Koviljka; Van der Linden, Martial; Detraux, Jean-Jacques

2009-01-01

Facial expression processing and the attribution of facial emotions to a context were investigated in adults with Down syndrome (DS) in two experiments. Their performances were compared with those of a child control group matched for receptive vocabulary. The ability to process faces without emotional content was controlled for, and no differences…

Personality profiles of youngsters with Velo-Cardio-Facial Syndrome

NARCIS (Netherlands)

Prinzie, P.; Swillen, A.; Vogels, A.; Kockuyt, V.; Curfs, L.M.G.; Haselager, G.J.T.; Hellinckx, W.; Devriendt, K.; Onghena, P.; Lieshout, C.F.M. van; Fryns, J.P.

2002-01-01

The personality profile of 48 youngsters (24 males and 24 females, mean age 8 years, 5 months) with Velo-Cardio-Facial Syndrome (VCFS) was compared with a group of 240 non VCFS control youngsters (matched on age and gender), and, in addition, with groups of youngsters with Prader-Willi (PWS),

Ischial hypoplasia, tibial hypoplasia and facial abnormalities: a new syndrome?

Energy Technology Data Exchange (ETDEWEB)

Nishimura, G. [Department of Radiology, Dokkyo University School of Medicine (Japan); Haga, Yoshihiko [Department of Orthopaedics, Shizuoka Children`s Hospital, Shizuoka (Japan); Aoki, Katsuhiko [Department of Radiology, Shizuoka Children`s Hospital, Shizuoka (Japan); Hasegawa, Tomoko [Division of Clinical Genetics, Shizuoka Children`s Hospital, Shizuoka (Japan)

1998-12-01

A child with facial abnormalities, short stature and a variety of skeletal alterations is reported. The facial abnormalities comprised low-set ears, short nose with a long philtrum, micrognathia and cleft palate. The skeletal alterations included ischial hypoplasia, malformations of the cervical spine, hypoplasia of the lesser trochanters, tibial hypoplasia with bowing of the lower legs, tibio-fibular diastasis with malformed distal tibial epiphyses, clubfeet and brachymesophalangy. The constellation of clinical and radiological findings in the present patient do not fit any known malformation syndrome. (orig.) With 4 figs., 8 refs.

Gd-DTPA enhancement of the facial nerve in Ramsay Hunt's syndrome

Energy Technology Data Exchange (ETDEWEB)

Kato, Tsutomu; Yanagida, Masahiro; Yamauchi, Yasuo [Kansai Medical School, Moriguchi, Osaka (Japan); and others

1992-10-01

A total of 21 MR images in 16 Ramsay Hunt's syndrome were evaluated. In all images, the involved side of peripheral facial nerve were enhanced in intensity after Gd-DTPA. However, 2 cases had recovered facial palsy when MR images were taken. Nine of 19 cases with the enhancement of internal auditory canal portion had vertigo or tinnitus. Thus, it was suggested that the enhancement of internal auditory canal portion and clinical feature are closely related. (author).

Gd-DTPA enhancement of the facial nerve in Ramsay Hunt's syndrome

International Nuclear Information System (INIS)

Kato, Tsutomu; Yanagida, Masahiro; Yamauchi, Yasuo

1992-01-01

A total of 21 MR images in 16 Ramsay Hunt's syndrome were evaluated. In all images, the involved side of peripheral facial nerve were enhanced in intensity after Gd-DTPA. However, 2 cases had recovered facial palsy when MR images were taken. Nine of 19 cases with the enhancement of internal auditory canal portion had vertigo or tinnitus. Thus, it was suggested that the enhancement of internal auditory canal portion and clinical feature are closely related. (author)

[Facial palsy].

Science.gov (United States)

Cavoy, R

2013-09-01

Facial palsy is a daily challenge for the clinicians. Determining whether facial nerve palsy is peripheral or central is a key step in the diagnosis. Central nervous lesions can give facial palsy which may be easily differentiated from peripheral palsy. The next question is the peripheral facial paralysis idiopathic or symptomatic. A good knowledge of anatomy of facial nerve is helpful. A structure approach is given to identify additional features that distinguish symptomatic facial palsy from idiopathic one. The main cause of peripheral facial palsies is idiopathic one, or Bell's palsy, which remains a diagnosis of exclusion. The most common cause of symptomatic peripheral facial palsy is Ramsay-Hunt syndrome. Early identification of symptomatic facial palsy is important because of often worst outcome and different management. The prognosis of Bell's palsy is on the whole favorable and is improved with a prompt tapering course of prednisone. In Ramsay-Hunt syndrome, an antiviral therapy is added along with prednisone. We also discussed of current treatment recommendations. We will review short and long term complications of peripheral facial palsy.

Facial peeling skin syndrome: a case report and a brief review.

Science.gov (United States)

Janjua, Shahbaz Ahmad; Hussain, Ijaz; Khachemoune, Amor

2007-03-01

Peeling skin syndrome is an extremely rare genodermatosis of possible autosomal recessive inheritance, characterized by asymptomatic spontaneous exfoliation of the stratum corneum at a subcorneal or intracorneal level. It usually presents at birth or appears later in early childhood. The condition may be generalized or localized. Here we describe a case of localized continual skin peeling limited to the facial skin in a 6-month-old infant, with two other members of the family affected with the same condition. A few cases of localized skin peeling limited to the acral surfaces have been described in the literature, but a familial case of localized skin peeling limited to the facial skin has not been described before. We believe that our patient represents a new subtype of peeling skin syndrome, limited to the skin of the face.

Effects of a phasic oral contraceptive containing desogestrel on facial seborrhea and acne.

Science.gov (United States)

Prilepskaya, V N; Serov, V N; Zharov, E V; Golousenko, I J; Mejevitinova, E A; Gogaeva, E V; Yaglov, V V; Golubeva, O N

2003-10-01

The combined oral contraceptive containing ethinylestradiol and the selective progestogen, desogestrel, in a phasic regimen (DSG-OC, Tri-merci) has been shown to reduce facial oiliness. This study was designed to evaluate further the effects of this OC on the skin of women with facial seborrhea and mild or moderate acne. This was an open, noncomparative, bicenter study in 60 healthy Russian women, aged 18-30 years, with facial seborrhea and mild or moderate facial acne, who wished to use oral contraception. All women received the OC containing desogestrel (50/100/150 microg) and ethinylestradiol (35/30/30 microg) for three phases of 7 days followed by a 7-day pill-free interval, for six cycles. Seborrhea was assessed using the Sebutape technique, in which strips of adhesive microporous polymeric film pressed onto facial sites are used to assess sebaceous activity. Acne was assessed by counting facial lesions. Subjective evaluations of skin and hair condition, patients' feelings to them and satisfaction with the OC were made using a visual analogue scale (VAS). Assessments were made at baseline, and after one, three and six treatment cycles. Sebutape assessments of seborrhea were significantly improved, on the right and left cheeks, after one treatment cycle, and on the forehead after three treatment cycles. These improvements increased steadily and were much larger at the end of Cycle 6. Acne grades were significantly improved after three and six treatment cycles. VAS scores in response to questions dealing with self-esteem and self-confidence were significantly improved after three cycles and in some cases after just one cycle. The women's views of their skin and hair (greasiness) were correspondingly significantly improved. Subjective assessments indicated that after one, three and six cycles, 69%, 93% and 98%, respectively, of women were satisfied or very satisfied with the DSG-OC. In women with facial seborrhea and mild or moderate acne, the use of DSG

Sequelae of radiation facial epilation (North American Hiroshima maiden syndrome)

International Nuclear Information System (INIS)

Rosen, I.B.; Walfish, P.G.

1989-01-01

Radiation for benign problems of the head and neck area has been uniformly recognized as unacceptable practice. This includes epilation for facial hirsutism. Twelve such patients, recently encountered, have characteristic radiodermatitis facies and have demonstrated multisite neoplastic involvement--including skin, thyroid, parathyroid, salivary gland, oral cavity, facial skeleton, and breast--and have also undergone extensive dermatologic treatment of complications of radiodermatitis. There was one cancer death, and three patients are alive with cancer. Such patients have a superficial resemblance to the Hiroshima maiden group of young women who survived atomic bombing and experienced severe facial burns, necessitating extensive plastic surgery. As atomic survivors they are at increased risk for cancer of thyroid, salivary gland, lung, breast, bone marrow, and gastrointestinal tract. The North American Hiroshima maiden should warrant easy clinical recognition and require lifetime scrutiny for multisite neoplastic disease

A Case of Classic Raymond Syndrome

Directory of Open Access Journals (Sweden)

Nicholas George Zaorsky

2012-01-01

Full Text Available Classic Raymond syndrome consists of ipsilateral abducens impairment, contralateral central facial paresis, and contralateral hemiparesis. However, subsequent clinical observations argued on the presentation of facial involvement. To validate this entity, we present a case of classic Raymond syndrome with contralateral facial paresis. A 50 year-old man experienced acute onset of horizontal diplopia, left mouth drooling and left-sided weakness. Neurological examination showed he had right abducens nerve palsy, left-sided paresis of the lower part of the face and limbs, and left hyperreflexia. A brain MRI showed a subacute infarct in the right mid-pons. The findings were consistent with those of classic Raymond syndrome. To date, only a few cases of Raymond syndrome, commonly without facial involvement, have been reported. Our case is a validation of classic Raymond syndrome with contralateral facial paresis. We propose the concept of two types of Raymond syndrome: (1 the classic type, which may be produced by a lesion in the mid-pons involving the ipsilateral abducens fascicle and undecussated corticofacial and corticospinal fibers; and (2 the common type, which may be produced by a lesion involving the ipsilateral abducens fascicle and undecussated corticospinal fibers but sparing the corticofacial fibers.

Oral contraceptive use in women changes preferences for male facial masculinity and is associated with partner facial masculinity.

Science.gov (United States)

Little, Anthony C; Burriss, Robert P; Petrie, Marion; Jones, Benedict C; Roberts, S Craig

2013-09-01

Millions of women use hormonal contraception and it has been suggested that such use may alter mate preferences. To examine the impact of oral contraceptive (pill) use on preferences, we tested for within-subject changes in preferences for masculine faces in women initiating pill use. Between two sessions, initiation of pill use significantly decreased women's preferences for male facial masculinity but did not influence preferences for same-sex faces. To test whether altered preference during pill use influences actual partner choice, we examined facial characteristics in 170 age-matched male partners of women who reported having either been using or not using the pill when the partnership was formed. Both facial measurements and perceptual judgements demonstrated that partners of women who used the pill during mate choice have less masculine faces than partners of women who did not use hormonal contraception at this time. Our data (A) provide the first experimental evidence that initiation of pill use in women causes changes in facial preferences and (B) documents downstream effects of these changes on real-life partner selection. Given that hormonal contraceptive use is widespread, effects of pill use on the processes of partner formation have important implications for relationship stability and may have other biologically relevant consequences. Copyright © 2013 Elsevier Ltd. All rights reserved.

Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.

Science.gov (United States)

Rabe, P; Haverkamp, F; Emons, D; Rosskamp, R; Zerres, K; Passarge, E

1991-12-01

We report on 2 sisters, 3 and 6 years old, with a possible new syndrome consisting of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia. This disorder closely resembles the Coffin-Siris syndrome (McKusick number 135900). We describe the difficulties in achieving a diagnosis. A major diagnostic clue was the radiological recognition of hypoplasia/aplasia of the terminal phalanx of the 5th finger. Minor facial anomalies and mental retardation alone had not led to the proper diagnosis. Still, several diagnostic possibilities remain. For unknown reasons both children have an increased level of serum alkaline phosphatase activity.

[Orbital compartment syndrome. The most frequent cause of blindness following facial trauma].

Science.gov (United States)

Klenk, Gusztáv; Katona, József; Kenderfi, Gábor; Lestyán, János; Gombos, Katalin; Hirschberg, Andor

2017-09-01

Although orbital compartment syndrome is a rare condition, it is still the most common cause of blindness following simple or complicated facial fractures. Its pathomechanism is similar to the compartment syndrome in the limb. Little extra fluid (blood, oedema, brain, foreign body) in a non-space yielding space results with increasingly higher pressures within a short period of time. Unless urgent surgical intervention is performed the blocked circulation of the central retinal artery will result irreversible ophthalmic nerve damage and blindness. Aim, material and method: A retrospective analysis of ten years, 2007-2017, in our hospital among those patients referred to us with facial-head trauma combined with blindness. 571 patients had fractures involving the orbit. 23 patients become blind from different reasons. The most common cause was orbital compartment syndrome in 17 patients; all had retrobulbar haematomas as well. 6 patients with retrobulbar haematoma did not develop compartment syndrome. Compartment syndrome was found among patient with extensive and minimal fractures such as with large and minimal haematomas. Early lateral canthotomy and decompression saved 7 patients from blindness. We can not predict and do not know why some patients develop orbital compartment syndrome. Compartment syndrome seems independent from fracture mechanism, comminution, dislocation, amount of orbital bleeding. All patients are in potential risk with midface fractures. We have a high suspicion that orbital compartment syndrome has been somehow missed out in the recommended textbooks of our medical universities and in the postgraduate trainings. Thus compartment syndrome is not recognized. Teaching, training and early surgical decompression is the only solution to save the blind eye. Orv Hetil. 2017; 158(36): 1410-1420.

Dose and diagnostic image quality in digital tomosynthesis imaging of facial bones in pediatrics

Science.gov (United States)

King, J. M.; Hickling, S.; Elbakri, I. A.; Reed, M.; Wrogemann, J.

2011-03-01

The purpose of this study was to evaluate the use of digital tomosynthesis (DT) for pediatric facial bone imaging. We compared the eye lens dose and diagnostic image quality of DT facial bone exams relative to digital radiography (DR) and computed tomography (CT), and investigated whether we could modify our current DT imaging protocol to reduce patient dose while maintaining sufficient diagnostic image quality. We measured the dose to the eye lens for all three modalities using high-sensitivity thermoluminescent dosimeters (TLDs) and an anthropomorphic skull phantom. To assess the diagnostic image quality of DT compared to the corresponding DR and CT images, we performed an observer study where the visibility of anatomical structures in the DT phantom images were rated on a four-point scale. We then acquired DT images at lower doses and had radiologists indicate whether the visibility of each structure was adequate for diagnostic purposes. For typical facial bone exams, we measured eye lens doses of 0.1-0.4 mGy for DR, 0.3-3.7 mGy for DT, and 26 mGy for CT. In general, facial bone structures were visualized better with DT then DR, and the majority of structures were visualized well enough to avoid the need for CT. DT imaging provides high quality diagnostic images of the facial bones while delivering significantly lower doses to the lens of the eye compared to CT. In addition, we found that by adjusting the imaging parameters, the DT effective dose can be reduced by up to 50% while maintaining sufficient image quality.

A Report of Two Cases of Solid Facial Edema in Acne.

Science.gov (United States)

Kuhn-Régnier, Sarah; Mangana, Joanna; Kerl, Katrin; Kamarachev, Jivko; French, Lars E; Cozzio, Antonio; Navarini, Alexander A

2017-03-01

Solid facial edema (SFE) is a rare complication of acne vulgaris. To examine the clinical features of acne patients with solid facial edema, and to give an overview on the outcome of previous topical and systemic treatments in the cases so far published. We report two cases from Switzerland, both young men with initially papulopustular acne resistant to topical retinoids. Both cases responded to oral isotretinoin, in one case combined with oral steroids. Our cases show a strikingly similar clinical appearance to the cases described by Connelly and Winkelmann in 1985 (Connelly MG, Winkelmann RK. Solid facial edema as a complication of acne vulgaris. Arch Dermatol. 1985;121(1):87), as well as to cases of Morbihan's disease that occurs as a rare complication of rosacea. Even 30 years after, the cause of the edema remains unknown. In two of the original four cases, a potential triggering factor was identified such as facial trauma or insect bites; however, our two patients did not report such occurrencies. The rare cases of solid facial edema in both acne and rosacea might hold the key to understanding the specific inflammatory pattern that creates both persisting inflammation and disturbed fluid homeostasis which can occur as a slightly different presentation in dermatomyositis, angioedema, Heerfordt's syndrome and other conditions.

Impaired recognition of facial emotions from low-spatial frequencies in Asperger syndrome.

Science.gov (United States)

Kätsyri, Jari; Saalasti, Satu; Tiippana, Kaisa; von Wendt, Lennart; Sams, Mikko

2008-01-01

The theory of 'weak central coherence' [Happe, F., & Frith, U. (2006). The weak coherence account: Detail-focused cognitive style in autism spectrum disorders. Journal of Autism and Developmental Disorders, 36(1), 5-25] implies that persons with autism spectrum disorders (ASDs) have a perceptual bias for local but not for global stimulus features. The recognition of emotional facial expressions representing various different levels of detail has not been studied previously in ASDs. We analyzed the recognition of four basic emotional facial expressions (anger, disgust, fear and happiness) from low-spatial frequencies (overall global shapes without local features) in adults with an ASD. A group of 20 participants with Asperger syndrome (AS) was compared to a group of non-autistic age- and sex-matched controls. Emotion recognition was tested from static and dynamic facial expressions whose spatial frequency contents had been manipulated by low-pass filtering at two levels. The two groups recognized emotions similarly from non-filtered faces and from dynamic vs. static facial expressions. In contrast, the participants with AS were less accurate than controls in recognizing facial emotions from very low-spatial frequencies. The results suggest intact recognition of basic facial emotions and dynamic facial information, but impaired visual processing of global features in ASDs.

Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome.

Science.gov (United States)

Schaefer, G B; Rosenbloom, A L; Guevara-Aguirre, J; Campbell, E A; Ullrich, F; Patil, K; Frias, J L

1994-01-01

Facial morphometry using computerised image analysis was performed on patients with growth hormone receptor deficiency (Laron syndrome) from an inbred population of southern Ecuador. Morphometrics were compared for 49 patients, 70 unaffected relatives, and 14 unrelated persons. Patients with growth hormone receptor deficiency showed significant decreases in measures of vertical facial growth as compared to unaffected relatives and unrelated persons with short stature from other causes. This report validates and quantifies the clinical impression of foreshortened facies in growth hormone receptor deficiency. Images PMID:7815422

Oral manifestations of Ellis-van Creveld syndrome

Directory of Open Access Journals (Sweden)

Ritesh Kalaskar

2012-01-01

Full Text Available Ellis-van Creveld syndrome is a rare autosomal-recessive disorder characterized by short limbs, post-axial polydactyly, ectodermal dysplasia, edentulous mandibular incisor region, absence of mucobuccal fold, congenitally missing teeth, slight serrations of the alveolar ridge and multiple small alveolar notches. The clinical report not only describes the classical oral and dental manifestations of Ellis-van Creveld syndrome but also presents unusual findings such as single-rooted and funnel-shaped primary first molars, single conical roots of primary second molars and taurodontisum, which must be considered in the differential diagnostic criteria to avoid misdiagnosis of syndromes. The article also discusses the differential diagnosis and preventive and therapeutic oral health care for these patients. The management of Ellis-van Creveld syndrome is multidisciplinary and, therefore, the oral health care provider should get updated with latest knowledge for timely referral to prevent the patient from further complications of heart defect and bony deformity.

Mother's Happiness with Cognitive - Executive Functions and Facial Emotional Recognition in School Children with Down Syndrome.

Science.gov (United States)

Malmir, Maryam; Seifenaraghi, Maryam; Farhud, Dariush D; Afrooz, G Ali; Khanahmadi, Mohammad

2015-05-01

According to the mother's key roles in bringing up emotional and cognitive abilities of mentally retarded children and respect to positive psychology in recent decades, this research is administered to assess the relation between mother's happiness level with cognitive- executive functions (i.e. attention, working memory, inhibition and planning) and facial emotional recognition ability as two factors in learning and adjustment skills in mentally retarded children with Down syndrome. This study was an applied research and data were analyzed by Pearson correlation procedure. Population is included all school children with Down syndrome (9-12 yr) that come from Tehran, Iran. Overall, 30 children were selected as an in access sample. After selection and agreement of parents, the Wechsler Intelligence Scale for Children-Revised (WISC-R) was performed to determine the student's IQ, and then mothers were invited to fill out the Oxford Happiness Inventory (OHI). Cognitive-executive functions were evaluated by tests as followed: Continues Performance Test (CPT), N-Back, Stroop test (day and night version) and Tower of London. Ekman emotion facial expression test was also accomplished for assessing facial emotional recognition in children with Down syndrome, individually. Mother's happiness level had a positive relation with cognitive-executive functions (attention, working memory, inhibition and planning) and facial emotional recognition in her children with Down syndrome, significantly. Parents' happiness (especially mothers) is a powerful predictor for cognitive and emotional abilities of their children.

Chemical Facial Cellulitis Due to Inadvertent Injection of Formalin into Oral Tissue Space.

Science.gov (United States)

Bector, Aditi; Virk, Pawandeep Sandhu; Arakeri, Gururaj

2015-11-05

This paper reports the accidental injection of formalin into oral tissue space, in an 8-year old child resulting in chemical facial necrotizing cellulitis and its management. The common practice of keeping formalin in local anesthesia vials should be avoided by dental clinics, to prevent such unfortunate incidents.

A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome.

Science.gov (United States)

Doğan, Özlem Akgün; Şimşek Kiper, Pelin Özlem; Utine, Gülen Eda; Alikaşifoğlu, Mehmet; Boduroğlu, Koray

2017-03-01

Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion of approximately 28 genes, including ELN on chromosome 7q11.2. Prenatal-onset growth retardation, distinct facial appearance, cardiovascular abnormalities, and unique hypersocial behavior are among the most common clinical features. Here, we report the case of a patient referred to us with distinct facial features and intellectual disability, who was diagnosed with Williams syndrome at the age of 37 years. Our aim is to increase awareness regarding the diagnostic features and complications of this recognizable syndrome among adult health care providers. Williams syndrome is usually diagnosed during infancy or childhood, but in the absence of classical findings, such as cardiovascular anomalies, hypercalcemia, and cognitive impairment, the diagnosis could be delayed. Due to the multisystemic and progressive nature of the syndrome, accurate diagnosis is critical for appropriate care and screening for the associated morbidities that may affect the patient's health and well-being.

Meckel Syndrome: Genetics, Perinatal Findings, and Differential Diagnosis

Directory of Open Access Journals (Sweden)

Chih-Ping Chen

2007-03-01

Full Text Available Meckel syndrome (MKS is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. Genetic heterogeneity of MKS has been established by three reported MKS loci, i.e., MKS1 on 17q23, MKS2 on 11q13, and MKS3 on 8q21.13-q22.1. MKS1 encodes a component of flagellar apparatus basal body proteome, which is associated with ciliary function. MKS3 encodes a seven-transmembrane receptor protein, meckelin. The identification of the MKS3 gene as well as the MKS1 gene enables molecular genetic testing for at-risk families, and allows accurate genetic counseling, carrier testing, and prenatal diagnosis. Pregnancies with MKS fetuses may be associated with an elevated maternal serum α-fetoprotein level and an abnormal screening result in the second-trimester maternal serum screening test. The classic MKS triad of occipital encephalocele, postaxial polydactyly, and bilateral enlarged multicystic kidneys can be diagnosed before the 14th gestational weeks by ultrasonography. However, later in pregnancy, severe oligohydramnios may make the diagnosis of polydactyly and encephalocele difficult. Differential diagnosis for MKS includes autosomal recessive polycystic kidney disease, trisomy 13, Smith-Lemli-Opitz syndrome, hydrolethalus syndrome, Senior-Loken syndrome, Joubert syndrome, Bardet-Biedl syndrome, and oral-facial-digital syndrome type 1. This article provides an overview of genetics, perinatal findings, and differential diagnosis of MKS. The ciliopathy underlies the pathogenesis of MKS. Prenatal diagnosis of bilateral enlarged multicystic kidneys should alert MKS and prompt a thorough investigation of central nervous system malformations and polydactyly.

Gd-DTPA enhancement of the facial nerve in Ramsay Hunt's syndrome

Energy Technology Data Exchange (ETDEWEB)

Kato, Tsutomu; Yanagida, Masahiro; Yamauchi, Yasuo (Kansai Medical School, Moriguchi, Osaka (Japan)) (and others)

1992-10-01

A total of 21 MR images in 16 Ramsay Hunt's syndrome were evaluated. In all images, the involved side of peripheral facial nerve were enhanced in intensity after Gd-DTPA. However, 2 cases had recovered facial palsy when MR images were taken. Nine of 19 cases with the enhancement of internal auditory canal portion had vertigo or tinnitus. Thus, it was suggested that the enhancement of internal auditory canal portion and clinical feature are closely related. (author).

Franceschetti syndrome (mandibulo-facial dysostosis at a newborn

Directory of Open Access Journals (Sweden)

Nechaev V.N.

2015-12-01

Full Text Available The aim of the article is to present the clinical experience of conducting the patient with a congenital disease (mandibulo-facial dysostosis resulting from defeat of the structures proceeding from the first branchial arch. The pathological state is inherited on autosomno-dominanttype. The disease can be observed in two or even three generations. The supervision represents a great interest from the clinical point of view as it rarely occurs in daily practice. Early diagnostics of difficult genetic syndromes and the clinical supervision described represent significant difficulties. According to the research, in similar situations statement of the syndromal diagnosis with specification of anomalies of development on the basis of the analysis of clinical data, additional methods of inspection, with the subsequent surgical correction of the broken functions has been justified.

Chemical facial cellulitis due to inadvertent injection of formalin into oral tissue space

Directory of Open Access Journals (Sweden)

Aditi Bector

2015-12-01

Full Text Available This paper reports the accidental injection of formalin into oral tissue space, in an 8-year old child resulting in chemical facial necrotizing cellulitis and its management. The common practice of keeping formalin in local anesthesia vials should be avoided by dental clinics, to prevent such unfortunate incidents.

Facial palsy in Melkersson-Rosenthal syndrome and Bell's palsy: familial history and recurrence tendency.

Science.gov (United States)

Sun, Baochun; Zhou, Chengyong; Han, Zeli

2015-02-01

The aim of this study was to compare genetic predilection and recurrence tendency between facial palsy in Melkersson-Rosenthal syndrome (MRS) and Bell's palsy We carried out an investigation on patients with facial palsy in MRS and those with Bell's palsy who visited the outpatient department in our hospital between February 2009 and February 2013. They were asked about familial history and whether it was the first episode, with the results recorded and compared. There were 16 patients with facial palsy in MRS and 860 patients with Bell's palsy involved in the study. Familial history was positive in 5 of 16 patients (31.3%) with facial palsy in MRS and 56 of 860 patients (6.5%) with Bell's palsy (P palsy in MRS and 88 of 860 cases (10.2%) with Bell's palsy had a history of facial palsy in the past (P Bell's palsy, facial palsy in MRS has an obvious genetic predilection and recurrence tendency. © The Author(s) 2014.

Idiopathic facial pain related with dental implantation

Directory of Open Access Journals (Sweden)

Tae-Geon Kwon

2016-06-01

Full Text Available Chronic pain after dental implantation is rare but difficult issue for the implant practitioner. Patients with chronic pain who had been performed previous implant surgery or related surgical intervention sometimes accompany with psychological problem and difficult to adequately manage. According to the International Classification of Headache Disorders (ICHD 3rd eds, Cepalagia 2013, painful neuropathies and other facial pains are subdivided into the 12 subcategories; 13.1. Trigeminal neuralgia; 13.2 Glossopharyngeal neuralgia; 13.3 Nervus intermedius (facial nerve neuralgia; 13.4 Occipital neuralgia; 13.5 Optic neuritis; 13.6 Headache attributed to ischaemic ocular motor nerve palsy; 13.7 Tolosa-Hunt syndrome; 13.8 Paratrigeminal oculo-sympathetic (Raeder’s syndrome; 13.9 Recurrent painful ophthalmoplegic neuropathy; 13.10 Burning Mouth Syndrome (BMS; 13.11 Persistent Idiopathic Facial Pain (PIFP; 13.12 Central neuropathic pain. Chronic orofacial pain after dental implant surgery can be largely into the two main categories that can be frequently encountered in clinical basis ; 1 Neuropathic pain, 2 Idiopathic pain. If there is no direct evidence of the nerve injury related with the implant surgery, the clinician need to consider the central cause of pain instead of the peripheral cause of the pain. There might be several possibilities; 1 Anaesthesia dolorosa, 2 Central post-stroke pain, 3 Facial pain attributed to multiple sclerosis, 4 Persistent idiopathic facial pain (PIFP, 5 Burning mouth syndrome. In this presentation, Persistent idiopathic facial pain (PIFP, the disease entity that can be frequently encountered in the clinic would be discussed. Persistent idiopathic facial pain (PIFP can be defined as “persistent facial and/or oral pain, with varying presentations but recurring daily for more than 2 hours per day over more than 3 months, in the absence of clinical neurological deficit”. ‘Atypical’ pain is a diagnosis of

Facial growth and oral function in a case of juvenile rheumatoid arthritis during an 8-year period

DEFF Research Database (Denmark)

Kreiborg, S; Bakke, M; Kirkeby, S

1990-01-01

The present report is a detailed analysis of facial growth and oral function in a girl with juvenile rheumatoid arthritis of the temporomandibular joints. She was followed from 9 to 17 years of age prior to and after orthognathic surgery. Facial growth was assessed by facial photographs, dental...... on these observations it is suggested that the conventional treatment strategy with postponement of orthodontic or orthognathic surgical treatment until cessation of growth is abandoned and that early treatment should be undertaken to maintain occlusal stability throughout the growth period....

Facial colliculus syndrome

Directory of Open Access Journals (Sweden)

Rupinderjeet Kaur

2016-01-01

Full Text Available A male patient presented with horizontal diplopia and conjugate gaze palsy. Magnetic resonance imaging (MRI revealed acute infarct in right facial colliculus which is an anatomical elevation on the dorsal aspect of Pons. This elevation is due the 6th cranial nerve nucleus and the motor fibres of facial nerve which loop dorsal to this nucleus. Anatomical correlation of the clinical symptoms is also depicted in this report.

Effect of oral IQoro R and palatal plate training in post-stroke, four-quadrant facial dysfunction and dysphagia: A comparison study.

Science.gov (United States)

Hägg, Mary; Tibbling, Lita

2015-09-01

Training with either a palatal plate (PP) or an oral IQoro(R) screen (IQS) in patients with longstanding facial dysfunction and dysphagia after stroke can significantly improve facial activity (FA) in all four facial quadrants as well as swallowing capacity (SC). Improvements remained at late follow-up. The training modalities did not significantly differ in ameliorating facial dysfunction and dysphagia in these patients. However, IQS training has practical and economic advantages over PP training. This study compared PP and oral IQS training in terms of (i) effect on four-quadrant facial dysfunction and dysphagia after a first-ever stroke, and (ii) whether the training effect persisted at late follow-up. Patients were included during two periods; 13 patients in 2005-2008 trained with a PP, while 18 patients in 2009-2012 trained with an IQS. Four-quadrant facial dysfunction was assessed with an FA test and swallowing dysfunction with a SC test: before and after a 3-month training period and at late follow-up. FA and SC significantly improved (p stroke incidence and the start of training was long or short.

Recognition of Facial Expressions of Emotion in Adults with Down Syndrome

Science.gov (United States)

Virji-Babul, Naznin; Watt, Kimberley; Nathoo, Farouk; Johnson, Peter

2012-01-01

Research on facial expressions in individuals with Down syndrome (DS) has been conducted using photographs. Our goal was to examine the effect of motion on perception of emotional expressions. Adults with DS, adults with typical development matched for chronological age (CA), and children with typical development matched for developmental age (DA)…

Outcome of a graduated minimally invasive facial reanimation in patients with facial paralysis.

Science.gov (United States)

Holtmann, Laura C; Eckstein, Anja; Stähr, Kerstin; Xing, Minzhi; Lang, Stephan; Mattheis, Stefan

2017-08-01

Peripheral paralysis of the facial nerve is the most frequent of all cranial nerve disorders. Despite advances in facial surgery, the functional and aesthetic reconstruction of a paralyzed face remains a challenge. Graduated minimally invasive facial reanimation is based on a modular principle. According to the patients' needs, precondition, and expectations, the following modules can be performed: temporalis muscle transposition and facelift, nasal valve suspension, endoscopic brow lift, and eyelid reconstruction. Applying a concept of a graduated minimally invasive facial reanimation may help minimize surgical trauma and reduce morbidity. Twenty patients underwent a graduated minimally invasive facial reanimation. A retrospective chart review was performed with a follow-up examination between 1 and 8 months after surgery. The FACEgram software was used to calculate pre- and postoperative eyelid closure, the level of brows, nasal, and philtral symmetry as well as oral commissure position at rest and oral commissure excursion with smile. As a patient-oriented outcome parameter, the Glasgow Benefit Inventory questionnaire was applied. There was a statistically significant improvement in the postoperative score of eyelid closure, brow asymmetry, nasal asymmetry, philtral asymmetry as well as oral commissure symmetry at rest (p facial nerve repair or microneurovascular tissue transfer cannot be applied, graduated minimally invasive facial reanimation is a promising option to restore facial function and symmetry at rest.

UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource

Science.gov (United States)

2017-09-15

Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

Mother’s Happiness with Cognitive - Executive Functions and Facial Emotional Recognition in School Children with Down Syndrome

Science.gov (United States)

MALMIR, Maryam; SEIFENARAGHI, Maryam; FARHUD, Dariush D.; AFROOZ, G.Ali; KHANAHMADI, Mohammad

2015-01-01

Background: According to the mother’s key roles in bringing up emotional and cognitive abilities of mentally retarded children and respect to positive psychology in recent decades, this research is administered to assess the relation between mother’s happiness level with cognitive- executive functions (i.e. attention, working memory, inhibition and planning) and facial emotional recognition ability as two factors in learning and adjustment skills in mentally retarded children with Down syndrome. Methods: This study was an applied research and data were analyzed by Pearson correlation procedure. Population is included all school children with Down syndrome (9–12 yr) that come from Tehran, Iran. Overall, 30 children were selected as an in access sample. After selection and agreement of parents, the Wechsler Intelligence Scale for Children-Revised (WISC-R) was performed to determine the student’s IQ, and then mothers were invited to fill out the Oxford Happiness Inventory (OHI). Cognitive-executive functions were evaluated by tests as followed: Continues Performance Test (CPT), N-Back, Stroop test (day and night version) and Tower of London. Ekman emotion facial expression test was also accomplished for assessing facial emotional recognition in children with Down syndrome, individually. Results: Mother’s happiness level had a positive relation with cognitive-executive functions (attention, working memory, inhibition and planning) and facial emotional recognition in her children with Down syndrome, significantly. Conclusion: Parents’ happiness (especially mothers) is a powerful predictor for cognitive and emotional abilities of their children. PMID:26284205

Extra Oral Periapical Radiography: A Review

Directory of Open Access Journals (Sweden)

Rachna Kaul

2014-01-01

Full Text Available Background: Intra oral periapical radiographs remain the backbone of diagnostic assessment of dento-facial pathologies. However, in some clinical situation like in developmentally disabled individuals, those with an exaggerated gag reflex, pediatric dental patients and anxious dental patients, it may be very difficult to obtain an intra-oral periapical radiograph of diagnostic quality. In such situations, extra oral periapical radiographs are very useful. They are obtained by placing a sensor outside the oral cavity and then making the radiographic exposure using a digital X ray machine for intra oral radiographs. The radiation dose in this technique is much lesser as compared to panoramic radiographs. This article reviews the technique, advantages, disadvantages and indications of extra oral periapical radiographs.

Peripheral facial palsy in children.

Science.gov (United States)

Yılmaz, Unsal; Cubukçu, Duygu; Yılmaz, Tuba Sevim; Akıncı, Gülçin; Ozcan, Muazzez; Güzel, Orkide

2014-11-01

The aim of this study is to evaluate the types and clinical characteristics of peripheral facial palsy in children. The hospital charts of children diagnosed with peripheral facial palsy were reviewed retrospectively. A total of 81 children (42 female and 39 male) with a mean age of 9.2 ± 4.3 years were included in the study. Causes of facial palsy were 65 (80.2%) idiopathic (Bell palsy) facial palsy, 9 (11.1%) otitis media/mastoiditis, and tumor, trauma, congenital facial palsy, chickenpox, Melkersson-Rosenthal syndrome, enlarged lymph nodes, and familial Mediterranean fever (each 1; 1.2%). Five (6.1%) patients had recurrent attacks. In patients with Bell palsy, female/male and right/left ratios were 36/29 and 35/30, respectively. Of them, 31 (47.7%) had a history of preceding infection. The overall rate of complete recovery was 98.4%. A wide variety of disorders can present with peripheral facial palsy in children. Therefore, careful investigation and differential diagnosis is essential. © The Author(s) 2013.

An oral clinical approach to Gorlin-Goltz syndrome.

Science.gov (United States)

Abreu, Lucas Guimaraes; Paiva, Saul Martins; Pretti, Henrique; Bastos Lages, Elizabeth Maria; Castro, Wagner Henriques

2015-01-01

Gorlin-Goltz syndrome is a rare hereditary disease that can have negative effects on one's quality of life. The main clinical features are multiple nevoid basal cell carcinomas, odontogenic keratocysts, congenital skeletal abnormalities, calcification of the falx cerebri, facial dysmorphism, and skin depressions (pits) on the palms and soles. Diagnosis is based on major and minor clinical and radiological criteria and can be confirmed by DNA analysis. This article describes the case of a child with Gorlin-Goltz syndrome and outlines the clinical manifestations of the disease.

Radiologic investigation of apert syndrome (acrocephalosyndactyly type 1) -a case report-

Energy Technology Data Exchange (ETDEWEB)

Lee, Yeon Hee; Cho, Whi Youl; Kim, Myung Soon; Hong, In Soo; Sung, Ki Joon; Yang, Jae Seung [Wonju College of Medicine, Yonsei University, Wonju (Korea, Republic of)

1991-03-15

Apert syndrome (Acrocephalosyndactyly type 1) is a rare congenital anomaly characterized by craniosynosis and symmetric-syndactyly of both extremities. Radiological examination of the skull shows hydrocephalus due to aqueductal stenosis. In the facial bones, the hypoplastic maxilla and relatively prominent mandible are observed associated with other anomalies such as cleft palate. Radiologic examination of both hands and feet show bony or subcutaneous syndactylism and typical mitten hands and webbed toes.

Radiologic investigation of apert syndrome (acrocephalosyndactyly type 1) -a case report-

International Nuclear Information System (INIS)

Lee, Yeon Hee; Cho, Whi Youl; Kim, Myung Soon; Hong, In Soo; Sung, Ki Joon; Yang, Jae Seung

1991-01-01

Apert syndrome (Acrocephalosyndactyly type 1) is a rare congenital anomaly characterized by craniosynosis and symmetric-syndactyly of both extremities. Radiological examination of the skull shows hydrocephalus due to aqueductal stenosis. In the facial bones, the hypoplastic maxilla and relatively prominent mandible are observed associated with other anomalies such as cleft palate. Radiologic examination of both hands and feet show bony or subcutaneous syndactylism and typical mitten hands and webbed toes

Fluency aspects of oral narrative task in del22q11.2 syndrome.

Science.gov (United States)

Santos, Amanda Oliveira; Rossi, Natalia Freitas; Tandel, Maria da Conceição Faria Freitas; Richieri-Costa, Antonio; Giacheti, Célia Maria

2016-01-01

To investigate the fluency aspects of the oral narrative task in individuals with del22q11.2 syndrome and compare them with those of individuals with typical language development. Fifteen individuals diagnosed with del22q11.2 syndrome, both genders, aged 7-17 years participated in this study. They were compared with 15 individuals with typical language development, with similar gender and chronological age profiles. The oral narrative was elicited using the book "Frog, Where Are You?", and the fluency aspects were analyzed according to speech rate and type and frequency of disfluency (typical and stuttering). The number and duration of pauses were also investigated. The data were statistically analyzed. The group with del22q11.2 syndrome showed a higher average when compared with the group without the syndrome for the percentage of typical disfluencies, mainly hesitation and revision. The group presenting the syndrome also showed a higher average for stuttering disfluencies, with pause as the most frequent disfluency. With respect to speech rate, the group with the syndrome presented a lower average for the number of words and syllables per minute. Individuals with del22q11.2 syndrome showed greater difficulties of narration than their peers. The fluency aspects of the oral narrative task in subjects with del22q11.2 syndrome were similar to those of individuals with typical language development regarding the presence of hesitation, revision, and pause, but they were different with respect to frequency of disfluency, which was higher in individuals with the syndrome.

A Rare Cause of Pheochromocytoma; Neurofibromatosis Type 1-Noonan Syndrome

Directory of Open Access Journals (Sweden)

Mazhar Müslüm Tuna

2014-09-01

Full Text Available Neurofibromatosis (NF Type 1 (NF-1 is an autosomal dominant disease with a prevalence of about 1/3000. NF-1 is a neurocutaneous syndrome characterized by cafe au lait macules, neurofibroma, optic glioma, lisch nodules, and symptoms involving other systems. Noonan syndrome (NS is a clinically heterogeneous disorder predominantly characterized by dysmorphic facial features, congenital heart disease, proportionate post-natal short stature, neck abnormalities, and chest deformities. NF-NS is a very rare overlapping syndrome sharing many features of both syndromes. Coexistence of pheochromocytoma, which can be life-threatening if not treated properly, is also a very rare complication of this disorder. Here, we report a patient who was admitted with a mass in the right upper quadrant and was diagnosed with pheochromocytoma and NFNS. (The Me­di­cal Bul­le­tin of Ha­se­ki 2014; 52: 227-31

Oral findings in patients with primary Sjögren's syndrome and oral lichen planus - a preliminary study on the effects of bovine colostrum-containing oral hygiene products

DEFF Research Database (Denmark)

Pedersen, A.M.; Torpet, L.A.; Reibel, J.

2002-01-01

Primary Sjögren's syndrome, oral lichen planus, bovine colostrum, saliva, xerostomia, oral mucosa......Primary Sjögren's syndrome, oral lichen planus, bovine colostrum, saliva, xerostomia, oral mucosa...

Correlation between facial types and muscle TMD in women: an anthropometric approach

Directory of Open Access Journals (Sweden)

Ronaldo Pacheco de ARAUJO

2015-01-01

Full Text Available Temporomandibular disorders (TMD affecting the articular disc and/or the facial muscles are common among the population, recording a higher incidence in women age 20-40 years. The aim of this study was to investigate the correlation between facial types and muscle TMD in women. This study comprised 56 women age 18 to 49 years, seeking treatment for TMD at the School of Medicine, Federal University of São Paulo. All of the study individuals were diagnosed with muscle TMD, based on the Research Diagnostic Criteria (RDC. Facial type was determined using the Facial Brugsch Index and classified as euryprosopic (short and/or broad, mesoprosopic (average width and leptoprosopic (long and/or narrow. The data were submitted to the Chi-square test and ANOVA-Tukey’s test to conduct the statistical analysis. The faces of 27 individuals were classified as euryprosopic (48%, 18 as mesoprosopic (32%, and 11 as leptoprosopic (20%. A statistically significant difference (Chi-square, p = 0.032 was found among the facial types, in that leptoprosopic facial types showed the lowest values for muscle TMD. A greater number (p = 0.0007 of cases of muscle TMD were observed in the 20 to 39 year-old subjects than in the subjects of other age segments. In conclusion, women with euryprosopic facial types could be more susceptible to muscle TMD. Further studies are needed to investigate this hypothesis.

Oral mucosal manifestations in primary and secondary Sjögren syndrome and dry mouth syndrome

Directory of Open Access Journals (Sweden)

Katarzyna Błochowiak

2016-02-01

Full Text Available Introduction : One of the most important symptoms of Sjögren syndrome is xerostomia. The oral cavity deprived of saliva and its natural lubricative, protective and antibacterial properties is prone to a number of unfavourable consequences. Aim : To present the most important lesions on the oral mucosa in primary and secondary Sjögren syndrome and in dry mouth syndrome. Material and methods: The study group comprised 55 patients including 52 women and 3 men aged 20–72 years (average: 28.25 years. Results : Basing on the accepted criteria, primary Sjögren syndrome was diagnosed in 22 (40% patients, secondary Sjögren syndrome in 18 (32.7% patients, and dry mouth syndrome in 15 (27.27% patients. The physical examination and the examination of the mouth were performed and history was elicited from every patient. Conclusions : The most common pathologies appearing on the oral mucosa in primary and secondary Sjögren syndrome are angular cheilitis, cheilitis, increased lip dryness as well as non-specific ulcerations, aphthae and aphthoid conditions.

Head, Neck, and Oral Cancer

Medline Plus

Full Text Available ... Oral Surgeries Facial Cosmetic Surgery Facial Injury / Trauma Surgery Obstructive Sleep Apnea (OSA) Oral, Head and Neck Pathology TMJ and Facial Pain Wisdom Teeth Management Procedures Anesthesia Anesthesia Oral and maxillofacial surgeons are ...

Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?

Science.gov (United States)

Gad, Alona; Laurino, Mercy; Maravilla, Kenneth R; Matsushita, Mark; Raskind, Wendy H

2008-07-15

The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1-4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair, and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. Here we describe a woman who shares some, but not all features of WS type 3 and CDHS, and who also has abnormal cranial bones. All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype. 2008 Wiley-Liss, Inc.

Guillain-Barré Syndrome: A Variant Consisting of Facial Diplegia and Paresthesia with Left Facial Hemiplegia Associated with Antibodies to Galactocerebroside and Phosphatidic Acid.

Science.gov (United States)

Nishiguchi, Sho; Branch, Joel; Tsuchiya, Tsubasa; Ito, Ryoji; Kawada, Junya

2017-10-02

BACKGROUND A rare variant of Guillain-Barré syndrome (GBS) consists of facial diplegia and paresthesia, but an even more rare association is with facial hemiplegia, similar to Bell's palsy. This case report is of this rare variant of GBS that was associated with IgG antibodies to galactocerebroside and phosphatidic acid. CASE REPORT A 54-year-old man presented with lower left facial palsy and paresthesia of his extremities, following an upper respiratory tract infection. Physical examination confirmed lower left facial palsy and paresthesia of his extremities with hyporeflexia of his lower limbs and sensory loss of all four extremities. The differential diagnosis was between a variant of GBS and Bell's palsy. Following initial treatment with glucocorticoids followed by intravenous immunoglobulin (IVIG), his sensory abnormalities resolved. Serum IgG antibodies to galactocerebroside and phosphatidic acid were positive in this patient, but not other antibodies to glycolipids or phospholipids were found. Five months following discharge from hospital, his left facial palsy had improved. CONCLUSIONS A case of a rare variant of GBS is presented with facial diplegia and paresthesia and with unilateral facial palsy. This rare variant of GBS may which may mimic Bell's palsy. In this case, IgG antibodies to galactocerebroside and phosphatidic acid were detected.

Kearns-Sayre syndrome with facial and white matter extensive involvement: a (mitochondrial and nuclear gene related? neurocristopathy?

Directory of Open Access Journals (Sweden)

Agostino Berio

2017-12-01

Full Text Available The Authors report on a patient with Kearns-Sayre syndrome, large mtDNA deletion (7/kb, facial abnormalities and severe central nervous system (CNS white matter radiological features, commonly attributed to spongy alterations. The common origin from neural crest cell (NCC of facial structures (cartilagineous, osseous, vascular and of the peripheral nervous system and of peripheral glia and partially of the CNS white matter are underlined and the facial and glial abnormalities are attributed to the abnormal reproduction/migration of NCC. In this view, the CNS spongy alterations in KSS may be not only a dystrophic process (leukodystrophy but also a dysplastic condition (leukodysplasia. The Authors hypothesize that the symptoms may be related to mtDNA mutations associated to NCC nuclear gene abnormality. SOX 10 gene may be a nuclear candidate gene, as reported in some case of Waardenburg IV syndrome.

Perception of facial esthetics by native Chinese participants by using manipulated digital imagery techniques.

Science.gov (United States)

Maganzini, A L; Tseng, J Y; Epstein, J Z

2000-10-01

This investigation utilized a manipulated digital video imaging model to elicit profile facial esthetics preferences in a lay population of native Chinese participants from Beijing. A series of 4 distinct digitized distortions were constructed from an initial lateral cephalogram. These images represented skeletal or dental changes that differed by 2 standard deviations from the normative values for Chinese adults. Video morphing then created soft-tissue profiles. A series of nonparametric tests validated the digitized distortion model. The native Chinese participants in this sample found that the profile distortions most acceptable were the "flatter", or bimaxillary retrusive distortion, in the male stimulus face and the "anterior divergent", or maxillary deficiency, in the female stimulus face.

Geometric Evaluation of the Effect of Prosthetic Rehabilitation on Facial Asymmetry in Patients with Unilateral Maxillectomy.

Science.gov (United States)

Aswehlee, Amel M; Hattori, Mariko; Elbashti, Mahmoud E; Sumita, Yuka I; Taniguchi, Hisashi

This study aimed (1) to geometrically evaluate areas of facial asymmetry in patients with two different types of maxillectomy defect compared to a control group, (2) to geometrically evaluate the effect of an obturator prosthesis on facial asymmetry, and (3) to investigate the correlation between three-dimensional (3D) deviation values and number of missing teeth. Facial data from 13 normal control participants and 26 participants with two types of maxillectomy defect (groups 1 and 2) were acquired with a noncontact 3D digitizer. Facial asymmetry was evaluated by superimposing a facial scan onto its mirror scan using 3D evaluation software. Facial scans with and without obturator prostheses were also superimposed to evaluate the obturator effect. The correlation between 3D deviation values and number of missing teeth was also evaluated. Statistical analyses were performed. Facial asymmetry was significantly different between the control group and each maxillectomy defect group (group 1: P 3D deviation values were positively correlated with number of missing teeth in group 1 (r = 0.594, P = .032), but not in group 2. A noncontact 3D digitizer and 3D deviation assessment were effective for analyzing facial data of maxillectomy patients. Obturators were effective for improving facial deformities in these patients.

Oxytocin Promotes Facial Emotion Recognition and Amygdala Reactivity in Adults with Asperger Syndrome

Science.gov (United States)

Domes, Gregor; Kumbier, Ekkehardt; Heinrichs, Markus; Herpertz, Sabine C

2014-01-01

The neuropeptide oxytocin has recently been shown to enhance eye gaze and emotion recognition in healthy men. Here, we report a randomized double-blind, placebo-controlled trial that examined the neural and behavioral effects of a single dose of intranasal oxytocin on emotion recognition in individuals with Asperger syndrome (AS), a clinical condition characterized by impaired eye gaze and facial emotion recognition. Using functional magnetic resonance imaging, we examined whether oxytocin would enhance emotion recognition from facial sections of the eye vs the mouth region and modulate regional activity in brain areas associated with face perception in both adults with AS, and a neurotypical control group. Intranasal administration of the neuropeptide oxytocin improved performance in a facial emotion recognition task in individuals with AS. This was linked to increased left amygdala reactivity in response to facial stimuli and increased activity in the neural network involved in social cognition. Our data suggest that the amygdala, together with functionally associated cortical areas mediate the positive effect of oxytocin on social cognitive functioning in AS. PMID:24067301

Dangerous triplet: Polycystic ovary syndrome, oral contraceptives and Kounis syndrome

OpenAIRE

Erol, Nurdan; Karaagac, Aysu Turkmen; Kounis, Nicholas G

2014-01-01

Polycystic ovary syndrome is characterized by ovulatory dysfunction, androgen excess and polycystic ovaries and is associated with hypertension, diabetes, metabolic syndrome and cardiovascular events. Oral contraceptives constitute first-line treatment, particularly when symptomatic hyperandrogenism is present. However, these drugs are associated with cardiovascular events and hypersensitivity reactions that pose problem in differential diagnosis and therapy. We present a 14 year-old female wi...

Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

Science.gov (United States)

Kariminejad, Ariana; Ajeawung, Norbert Fonya; Bozorgmehr, Bita; Dionne-Laporte, Alexandre; Molidperee, Sirinart; Najafi, Kimia; Gibbs, Richard A; Lee, Brendan H; Hennekam, Raoul C; Campeau, Philippe M

2017-04-01

Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome. Clinical investigations coupled with karyotype analysis, array-comparative genomic hybridization, exome and Sanger sequencing were performed to characterize the condition in this child. Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain. This finding coupled with the presence of characteristic features such as brachycephaly, ptosis, blepharophimosis, hypertelorism, short palpebral fissures, cleft palate and developmental delay allowed us to make a diagnosis of KOS. In conclusion, our findings highlight the importance of considering KOS as a differential diagnosis for patients under evaluation for DOORS syndrome and expand the phenotype of KOS to include small or absent terminal phalanges, nails, and the presence of hallux varus and multicystic dysplastic kidneys.

Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature.

Science.gov (United States)

Tender, Jennifer A F; Ferreira, Carlos R

2018-04-13

Cerebro-facio-thoracic dysplasia (CFTD) is a rare, autosomal recessive disorder characterized by facial dysmorphism, cognitive impairment and distinct skeletal anomalies and has been linked to the TMCO1 defect syndrome. To describe two siblings with features consistent with CFTD with a novel homozygous p.Arg114* pathogenic variant in the TMCO1 gene. We conducted a literature review and summarized the clinical features and laboratory results of two siblings with a novel pathogenic variant in the TMCO1 gene. Facial recognition analysis was utilized to assess the specificity of facial traits. The novel homozygous p.Arg114* pathogenic variant in the TMCO1 gene is responsible for the clinical features of CFTD in two siblings. Facial recognition analysis allows unambiguous distinction of this syndrome against controls.

Infantile inflammatory pseudotumor of the facial nerve as a complication of epidermal nevus syndrome with cholesteatoma.

Science.gov (United States)

Hato, Naohito; Tsujimura, Mika; Takagi, Taro; Okada, Masahiro; Gyo, Kiyofumi; Tohyama, Mikiko; Tauchi, Hisamichi

2013-12-01

The first reported case of facial paralysis due to an inflammatory pseudotumor (IPT) of the facial nerve as a complication of epidermal nevus syndrome (ENS) is herein presented. A 10-month-old female patient was diagnosed with ENS at 3 months of age. She was referred to us because of moderate left facial paralysis. Epidermal nevi of her left auricle extended deep into the external ear canal. Otoscopy revealed polypous nevi and cholesteatoma debris filling the left ear. Computed tomography showed a soft mass filling the ear canal, including the middle ear, and an enormously enlarged facial nerve. Surgical exploration revealed numerous polypous nevi, external ear cholesteatoma, and tumorous swelling of the facial nerve. The middle ear ossicles were completely lost. The facial paralysis was improved after decompression surgery, but recurred 5 months later. A second operation was conducted 10 months after the first. During this operation, facial nerve decompression was completed from the geniculate ganglion to near the stylomastoid foramen. Histological diagnosis of the facial nerve tumor was IPT probably caused by chronic external ear inflammation induced by epidermal nevi. The facial paralysis gradually improved to House-Blackmann grade III 5 years after the second operation. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

980 nm diode lasers in oral and facial practice: current state of the science and art.

Science.gov (United States)

Desiate, Apollonia; Cantore, Stefania; Tullo, Domenica; Profeta, Giovanni; Grassi, Felice Roberto; Ballini, Andrea

2009-11-24

To evaluate the safety and efficacy of a 980 nm diode laser for the treatment of benign facial pigmented and vascular lesions, and in oral surgery. 20 patients were treated with a 980 nm diode laser. Oral surgery: 5 patients (5 upper and lower frenulectomy). Fluence levels were 5-15 J/cm(2); pulse lengths were 20-60 ms; spot size was 1 mm. Vascular lesions: 10 patients (5 small angiomas, 5 telangiectases). Fluences were 6-10 J/cm(2); pulse lengths were 10-50 ms; spot size was 2 mm. In all cases the areas surrounding the lesions were cooled. Pigmented lesions: 5 patients (5 keratoses). All the lesions were evaluated by dermatoscopy before the treatment. Fluence levels were 7-15 J/cm(2); pulse lengths were 20-50 ms; spot size was 1 mm. All the patients were followed at 1, 4 and 8 weeks after the procedure. Healing in oral surgery was within 10 days. The melanoses healed completely within four weeks. All the vascular lesions healed after 15 days without any residual scarring. The end results for the use of the 980 nm diode laser in oral and facial surgery appears to be justified on the grounds of efficacy and safety of the device, and good degree of acceptance by the patients, without compromising their health and function.

Association between psychosocial disorders and oral health

Directory of Open Access Journals (Sweden)

Amita Aditya

2015-01-01

Full Text Available It is a fact that mind and body share an intimate relationship. There are many ways in which mental and physical health impact each other. Psychosocial factors play a part in the pathogenesis of physical health, and oral health is no exception. Chronic and painful oral symptoms lead to psychosocial disorder and at the same time, some patients with psychosocial disorders experience painful oral and facial symptoms. Several investigators have concluded that psychosocial factors play an important role in the pathogenesis of an array of oral problems, ranging from poor oral hygiene to chronic pain disorders, such as temporomandibular joint disorders, burning mouth syndrome, and atypical pain. This review aims at the in-depth analysis of the correlation between psychosocial disorders and various oral symptoms.

Bartter's Syndrome with Type 2 Diabetes Mellitus

Directory of Open Access Journals (Sweden)

Ting-Ting See

2009-02-01

Full Text Available We report a rare case of Bartter's syndrome in a 35-year-old woman with type 2 diabetes mellitus. The patient presented with leg weakness, fatigue, polyuria and polydipsia. Hypokalemia, metabolic alkalosis, and high renin and aldosterone concentrations were present, but the patient was normotensive. Gitelman's syndrome was excluded because of the presence of hypercalciuria, secondary hyperparathyroidism and bilateral nephrocalcinosis. The patient's condition improved upon administration of a prostaglandin synthetase inhibitor (acemetacin, oral potassium chloride and potassium-sparing diuretics. Five months later, the patient discontinued acemetacin because of epigastric discomfort; at the same time, severe hypokalemia and hyperglycemia developed. Glucagon stimulation and water deprivation tests were performed. Type 2 diabetes mellitus with nephrogenic diabetes insipidus was diagnosed. To avoid further gastrointestinal complications, the patient was treated with celecoxib, a selective cyclooxygenase 2 inhibitor. This case serves as a reminder that Bartter's syndrome is associated with various metabolic derangements including nephrogenic diabetes insipidus, nephrocalcinosis and diabetes mellitus. When treating Bartter's syndrome, it is also prudent to remember that the long-term use of nonsteroidal anti-inflammatory drugs and potassium-sparing diuretics may result in serious adverse reactions.

Serial neurophysiological and neurophysiological examinations for delayed facial nerve palsy in a patient with Fisher syndrome.

Science.gov (United States)

Umekawa, Motoyuki; Hatano, Keiko; Matsumoto, Hideyuki; Shimizu, Takahiro; Hashida, Hideji

2017-05-27

The patient was a 47-year-old man who presented with diplopia and gait instability with a gradual onset over the course of three days. Neurological examinations showed ophthalmoplegia, diminished tendon reflexes, and truncal ataxia. Tests for anti-GQ1b antibodies and several other antibodies to ganglioside complex were positive. We made a diagnosis of Fisher syndrome. After administration of intravenous immunoglobulin, the patient's symptoms gradually improved. However, bilateral facial palsy appeared during the recovery phase. Brain MRI showed intensive contrast enhancement of bilateral facial nerves. During the onset phase of facial palsy, the amplitude of the compound muscle action potential (CMAP) in the facial nerves was preserved. During the peak phase, the facial CMAP amplitude was within the lower limit of normal values, or mildly decreased. During the recovery phase, the CMAP amplitude was normalized, and the R1 and R2 responses of the blink reflex were prolonged. The delayed facial nerve palsy improved spontaneously, and the enhancement on brain MRI disappeared. Serial neurophysiological and neuroradiological examinations suggested that the main lesions existed in the proximal part of the facial nerves and the mild lesions existed in the facial nerve terminals, probably due to reversible conduction failure.

Relation between a first branchial cleft anomaly and the facial nerve.

Science.gov (United States)

Guo, Yu-Xing; Guo, Chuan-Bin

2012-04-01

Relations between first branchial cleft anomalies and the facial nerve vary. We reviewed 41 patients' medical records and pathological sections to clarify the relation, and found that those on the right side in young patients, which were Work type II and situated low down, were likely to be deep to the facial nerve. Copyright © 2011 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

A decision-algorithm defining the rehabilitation approach: 'Facial oral tract therapy'

DEFF Research Database (Denmark)

Hansen, Trine S; Jakobsen, Daniela

2010-01-01

was developed by a research occupational therapist and an F.O.T.T. senior instructor. We used an inductive approach combining existing knowledge from: F.O.T.T. instructors, therapists trained in using the F.O.T.T. approach, and existing literature. A group of F.O.T.T. instructors and the originator...... and eating; oral hygiene; breathing, voice, and speech articulation; facial expression, giving guidance on interventions. The algorithm outlines all important components in the treatment that the therapist should decide to use or not to use in the intervention. The algorithm is supported by a manual...

Otitis complicated by Jacod's syndrome with unusal facial nerve involvement: Case report and review of literature.

Science.gov (United States)

Abdulkadir, Kocer; Buket, Sanlisoy; Dilek, Agircan; Munevver, Okay; Ayse, Aralasmak

2015-04-01

Otitis media is a well-known condition and its infra-temporal and intracranial complications are extremely rare because of the widespread usage of antibiotic treatment. We report a case of 63-year-old female with complaints of right-sided facial pain and diplopia. She had a history of acute otitis media before 4 months of admission to our neurology unit. Neurological examination showed that total ophthalmoplegia with ptosis, mydriasis, decreased vision and loss of pupil reflex on the right side. In addition, there was involvement of 5th and 7th cranial nerves. Neurological and radiological follow-up examinations demonstrated Jacod's Syndrome with unusual facial nerve damage and infection in aetiology. Sinusitis is the most common aetiology, but there are a few cases reported Jacod's Syndrome originating from otitis media.

Sjögren's Syndrome: Oral Manifestations and Treatment, a Dental Perspective.

Science.gov (United States)

Cartee, Deborah L; Maker, Shannon; Dalonges, Debra; Manski, Marion C

2015-12-01

Sjögren's syndrome is a systemic autoimmune disease affecting approximately 3 million Americans, primarily perimenopausal women. The syndrome is characterized by dysfunction and destruction of exocrine glands leading to oral and ocular manifestations, xerostomia and keratitis sicca. Sjögren's syndrome commonly remains either undiagnosed or is diagnosed years after the onset of symptoms. Diagnosis is based on the concurrent presence of various signs and symptoms of the disease as established by 6 diagnostic standards set by the American European Consensus Group standards: oral symptoms, ocular symptoms, evidence of oral signs, evidence of ocular dryness, evidence of salivary gland involvement with positive Anti-Ro/La autoantibodies and a positive gland biopsy. Currently no definitive test or cure exists; treatment is predominately palliative and supportive. With an aging population and heavier reliance on medications and treatments which cause xerostomia, oral health professionals are likely to encounter a higher incidence of xerostomia and Sjögren's syndrome more than ever before. The dental professional must recognize the signs and symptoms of xerostomia, include Sjögren's syndrome in their differential diagnosis, and communicate those findings and concerns to other health care providers, including the primary care physician, rheumatologist and ophthalmologist for evaluation in a timely fashion. This article discusses the dental professional's role in formulating a preventive oral health plan: meticulous oral hygiene instructions, dietary counseling, a complement of chemotherapeutic agents and more frequent recall care to avoid oral complications and improve quality of life. Dental hygienists can help patients understand the wide range of products available to substitute or stimulate salivary flow, prevent or remineralize early carious lesions and relieve candidal and bacterial infections. Ultimately this collaboration of care by the dental and medical

Bilateral meningoencephaloceles with cerebrospinal fluid rhinorrhea after facial advancement in the Crouzon syndrome.

Science.gov (United States)

Panuganti, Bharat A; Leach, Matthew; Antisdel, Jastin

2015-01-01

Cerebrospinal fluid (CSF) rhinorrhea and encephaloceles are rare complications of craniofacial advancement procedures performed in patients with craniofacial dysostoses (CD) to address the ramifications of their midface hypoplasia including obstructed nasal airway, exorbitism, and impaired mastication. Surgical repair of this CSF rhinorrhea is complicated by occult elevations in intracranial pressure (ICP), potentially necessitating open, transcranial repair. We report the first case in otolaryngology literature of a patient with Crouzon syndrome with late CSF rhinorrhea and encephalocele formation after previous LeFort III facial advancement surgery. Describe the case of a patient with Crouzon syndrome who presented with CSF rhinorrhea and encephaloceles as complications of Le Fort III facial advancement surgery. Review the literature pertaining to the incidence and management of post-operative CSF rhinorrhea and encephaloceles. Analyze issues related to repair of these complications, including occult elevations in ICP, the utility of perioperative CSF shunts, and the importance of considering alternative repair schemes to the traditional endonasal, endoscopic approach. Review of the literature describing CSF rhinorrhea and encephalocele formation following facial advancement in CD, focusing on management strategies. CSF rhinorrhea and encephalocele formation are rare complications of craniofacial advancement procedures. Occult elevations in ICP complicate the prospect of permanent surgical repair, potentially necessitating transcranial repair and the use of CSF shunts. Though no consensus exists regarding the utility of perioperative CSF drains, strong associations exist between elevated ICP and failed surgical repair. Additionally, the anatomic changes in the frontal and ethmoid sinuses after facial advancement present a challenge to endoscopic repair. Otolaryngologists should be aware of the possibility of occult elevations in ICP and sinonasal anatomic

Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.

Science.gov (United States)

Lin, Henry C; Le Hoang, Phuc; Hutchinson, Anne; Chao, Grace; Gerfen, Jennifer; Loomes, Kathleen M; Krantz, Ian; Kamath, Binita M; Spinner, Nancy B

2012-05-01

Alagille syndrome (ALGS, OMIM #118450) is an autosomal dominant disorder that affects multiple organ systems including the liver, heart, eyes, vertebrae, and face. ALGS is caused by mutations in one of two genes in the Notch Signaling Pathway, Jagged1 (JAG1) or NOTCH2. In this study, analysis of 21 Vietnamese ALGS individuals led to the identification of 19 different mutations (18 JAG1 and 1 NOTCH2), 17 of which are novel, including the third reported NOTCH2 mutation in Alagille Syndrome. The spectrum of JAG1 mutations in the Vietnamese patients is similar to that previously reported, including nine frameshift, three missense, two splice site, one nonsense, two whole gene, and one partial gene deletion. The missense mutations are all likely to be disease causing, as two are loss of cysteines (C22R and C78G) and the third creates a cryptic splice site in exon 9 (G386R). No correlation between genotype and phenotype was observed. Assessment of clinical phenotype revealed that skeletal manifestations occur with a higher frequency than in previously reported Alagille cohorts. Facial features were difficult to assess and a Vietnamese pediatric gastroenterologist was only able to identify the facial phenotype in 61% of the cohort. To assess the agreement among North American dysmorphologists at detecting the presence of ALGS facial features in the Vietnamese patients, 37 clinical dysmorphologists evaluated a photographic panel of 20 Vietnamese children with and without ALGS. The dysmorphologists were unable to identify the individuals with ALGS in the majority of cases, suggesting that evaluation of facial features should not be used in the diagnosis of ALGS in this population. This is the first report of mutations and phenotypic spectrum of ALGS in a Vietnamese population. Copyright © 2012 Wiley Periodicals, Inc.

Unravelling the NERDS syndrome.

Science.gov (United States)

Singh, Achintya Dinesh; Suri, Tejas Menon; Jagdish, Rakesh Kumar; Kumar, Uma

2018-05-12

A 22-year-old man presented with symmetric polyarthritis, pruritus and deviation of angle of mouth to the right side since the last 7 years. His symptoms were persistent despite receiving ayurvedic medications and symptomatic therapy. Examination revealed dry skin, cutaneous nodules, xanthelasma, periarticular non-tender swellings, pitting oedema of hands and feet and lower motor neuron type right facial palsy. Haematological investigations revealed eosinophilia and skin biopsy had cutaneous eosinophilic infiltration. The constellation of above findings comprises the nodules, eosinophilia, rheumatism, dermatitis and swelling syndrome. It a rare syndrome with few reported cases in literature. The patient was started on oral corticosteroids which was subsequently tapered and methotrexate therapy. His polyarthritis and skin rashes resolved with therapy. He has been followed-up for 2 years and is presently asymptomatic for the last 1 year. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Analysis of maxillary anterior teeth proportion in relationship with lower facial height and malocclusion

Directory of Open Access Journals (Sweden)

Rajesh Gyawali

2017-07-01

Full Text Available Background & Objectives: Maxillary anterior tooth to tooth proportion has a special value in dental esthetics. This study aimed to assess the apparent proportion of maxillary anteriors and possible association with lower anterior facial height and malocclusion type. Materials & Methods: One-hundred and sixty samples with well aligned maxillary dentition were selected and the lower anterior facial height was measured with digital caliper. Molar relationship was examined and intraoral frontal photograph was taken for digital measurement of tooth proportion. The ratio of maxillary canine to lateral and lateral to central incisors were measured and compared between gender and the sides. These ratios were further compared among various malocclusion type using ANOVA and its association with lower anterior facial height was evaluated with Pearson’s correlation.Results: Most of the samples had Class I molar relationship (70% followed by Class II (23% and Class III (7%. The mean lower anterior facial height was 62.82mm and ratio of maxillary lateral to central incisor and canine to lateral incisor was 0.68 and 0.76 respectively. No statistically significant difference was found when the ratio was compared between the gender and the sides. These ratios were statistically different from the golden ratio and has no significant correlation with lower anterior facial height. These mean ratios were also found similar across the malocclusion type.Conclusion: Ratio of apparent dimension of maxillary canine to lateral incisor and lateral to central incisor was different from the golden ratio and showed no association with lower anterior facial height and malocclusion type.

Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association.

Science.gov (United States)

Gupta, Ankur; Khaira, Ambar; Lal, Charanjit; Mahajan, Sandeep; Tiwari, Suresh C

2009-10-01

Noonan syndrome is characterised by short stature, typical facial dysmorphology and congenital heart defects. Urogenital abnormalities are reported in 10% of the cases. We present a 14-year-old girl with characteristic features of Noonan syndrome and nephrotic-range proteinuria. She had crossed fused ectopic kidneys. Renal biopsy showed focal segmental glomerulosclerosis. Oral steroids were instituted and she responded well. The case highlights this novel renal presentation of Noonan syndrome.

Recognition of Emotional and Nonemotional Facial Expressions: A Comparison between Williams Syndrome and Autism

Science.gov (United States)

Lacroix, Agnes; Guidetti, Michele; Roge, Bernadette; Reilly, Judy

2009-01-01

The aim of our study was to compare two neurodevelopmental disorders (Williams syndrome and autism) in terms of the ability to recognize emotional and nonemotional facial expressions. The comparison of these two disorders is particularly relevant to the investigation of face processing and should contribute to a better understanding of social…

Facilitating English-Language Learners' Oral Reading Fluency with Digital Pen Technology

Science.gov (United States)

Chen, Chih-Ming; Tan, Chia-Chen; Lo, Bey-Jane

2016-01-01

Oral reading fluency is an indicator of overall reading competence. Many studies have claimed that repeated reading can promote oral reading fluency. Currently, novel Web- or computer-based reading technologies offer interactive digital materials that promote English oral reading fluency using the repeated reading strategy; however, paper-based…

Cushing's syndrome in type 2 diabetes patients with poor glycemic control.

Science.gov (United States)

Gungunes, Askin; Sahin, Mustafa; Demirci, Taner; Ucan, Bekir; Cakir, Evrim; Arslan, Muyesser Sayki; Unsal, Ilknur Ozturk; Karbek, Basak; Calıskan, Mustafa; Ozbek, Mustafa; Cakal, Erman; Delibasi, Tuncay

2014-12-01

Cushing's syndrome may be more frequent in some specific patient groups such as type 2 diabetes and obesity. The aim of this study was to investigate the prevalence of Cushing's syndrome in outpatients with type 2 diabetes with poor glycemic control despite at least 3-months insulin therapy. Outpatients with type 2 diabetes whose glycemic control is poor (Hb Alc value >7 %) despite receiving at least 3-months long insulin treatment (insulin alone or insulin with oral antidiabetics) were included. Patients with classic features of Cushing's syndrome were excluded. Overnight 1 mg dexamethasone suppression test (DST) was performed as a screening test. A total of 277 patients with type 2 diabetes whose glycemic control is poor (Hb Alc value >7 %) despite insulin therapy were included. Two of the 277 patients with type 2 diabetes were diagnosed with Cushing's syndrome (0.72 %). Hypertension was statistically more frequent in the patients with cortisol levels ≥1.8 μg/dL than the patients with cortisol levels Cushing's syndrome among patients with type 2 diabetes with poor glycemic control despite insulin therapy is much higher than in the general population. The patients with type 2 diabetes with poor glycemic control despite at least three months of insulin therapy should be additionally tested for Cushing's syndrome if they have high dose insülin requirements.

MANAGEMENT OF THE ORAL-FEATURES OF SJOGREN SYNDROME

NARCIS (Netherlands)

SGRAVENMADE, EJ; VISSINK, A

In this paper the basis of the oral features of Sjogren's syndrome is described and guidelines for proper management of these features are given. The most pronounced oral symptoms are a dry sensation in the mouth and difficulties with swallowing and speech. Furthermore, these patients do not sleep

Oral manifestations associated with systemic complications of prune belly syndrome.

Science.gov (United States)

Pessoa, Larissa; Galvão, Virgilio

2013-01-01

Prune belly syndrome (PBS) is a rare congenital malformation of unknown etiology characterized by congenital abnormalities including abdominal wall flaccidity, urinary tract alterations, and bilateral cryptorchidism. The incidence of the syndrome is between 1/35000 and 1/50000 live births and there is little information about the oral findings. The present case describes the oral manifestations of a 15-year-old boy diagnosed with PBS. The findings include enamel hypoplasia associated with generalized hypocalcemic dental lines. In the radiographic exam, pronounced demineralization of the trabecular bone of the jaws, loss of lamina dura in all the teeth, and discontinuity of the mandibular cortical bone were observed. Prune belly syndrome is a rare disease, whose clinical dental aspects are not pathognomonic of the syndrome. The comprehension of the systemic mechanism of PBS and its comorbidities enable an understanding of the systemic etiologic factors associated with oral manifestations. Copyright © 2013 Elsevier Inc. All rights reserved.

Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient.

LENUS (Irish Health Repository)

McKenna, G J

2009-11-01

BACKGROUND: Lacrimo-auriculo-dento-digital (LADD) syndrome (OMIM #149730) is an autosomal-dominant congenital disorder that can be caused by heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 (FGFR2) and 3 (FGFR3), and has been found in association with a mutation in the FGF10 gene, which encodes an Fgfr ligand. Clinical signs vary, but the condition is characterised by involvement of the lacrimal and salivary systems, cup-shaped ears, hearing loss and dental abnormalities. Additional features may include involvement of the hands and feet with other body systems particularly the kidneys. CASE REPORT: Previous literature on the subject has been reviewed and this case is the first presentation of LADD syndrome in the Republic of Ireland, as a sporadic case in a 12-year-old girl who exhibited a range of dental and digital anomalies. TREATMENT: Her general medical practitioner managed her medical care whilst her oral care necessitated a multidisciplinary approach involving restorative and orthodontic elements. FOLLOW-UP: The initial restorative phase of treatment has successfully improved the appearance of the patient\\'s anterior teeth using direct resin composite build-ups.

Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient.

Science.gov (United States)

McKenna, G J; Burke, F M; Mellan, K

2009-11-01

Lacrimo-auriculo-dento-digital (LADD) syndrome (OMIM #149730) is an autosomal-dominant congenital disorder that can be caused by heterozygous mutations in the tyrosine kinase domains of the genes encoding fibroblast growth factor receptors 2 (FGFR2) and 3 (FGFR3), and has been found in association with a mutation in the FGF10 gene, which encodes an Fgfr ligand. Clinical signs vary, but the condition is characterised by involvement of the lacrimal and salivary systems, cup-shaped ears, hearing loss and dental abnormalities. Additional features may include involvement of the hands and feet with other body systems particularly the kidneys. Previous literature on the subject has been reviewed and this case is the first presentation of LADD syndrome in the Republic of Ireland, as a sporadic case in a 12-year-old girl who exhibited a range of dental and digital anomalies. Her general medical practitioner managed her medical care whilst her oral care necessitated a multidisciplinary approach involving restorative and orthodontic elements. The initial restorative phase of treatment has successfully improved the appearance of the patient's anterior teeth using direct resin composite build-ups.

Clinical Study of the Relationship between Eczema TCM Syndrome Types and TCM constitution

Directory of Open Access Journals (Sweden)

Weian Mao

2015-04-01

Full Text Available Objective To investigate the relationship between Eczema TCM syndrome types and TCM constitutional. Methods 100 cases of eczema were randomly selected and numbered, then sum up the results of report after using DSO1- A system that collect lingual, facial and sphygmic to identify the types of TCM constitution. Finally, the results were analyzed. Results The results show that the nine types of moderate physical quality account for 58.3% of spreading damp-heat pattern , Phlegm-dampness constitution 25.7% of the pattern of spleen vacuity with damp-heat, and yin deficiency 32.1% of the pattern of blood vacuity and wind-dryness. Conclusion There was a correlation between Eczema TCM syndrome types and TCM constitutional. Spreading damp-heat pattern was associated with moderate physical quality. The pattern of spleen vacuity with damp-heat was connected to Phlegm-dampness constitution. The pattern of blood vacuity and wind-dryness had relation with yin deficiency.

Delineation of facial archetypes by 3d averaging.

Science.gov (United States)

Shaweesh, Ashraf I; Thomas, C David L; Bankier, Agnes; Clement, John G

2004-10-01

The objective of this study was to investigate the feasibility of creating archetypal 3D faces through computerized 3D facial averaging. A 3D surface scanner Fiore and its software were used to acquire the 3D scans of the faces while 3D Rugle3 and locally-developed software generated the holistic facial averages. 3D facial averages were created from two ethnic groups; European and Japanese and from children with three previous genetic disorders; Williams syndrome, achondroplasia and Sotos syndrome as well as the normal control group. The method included averaging the corresponding depth (z) coordinates of the 3D facial scans. Compared with other face averaging techniques there was not any warping or filling in the spaces by interpolation; however, this facial average lacked colour information. The results showed that as few as 14 faces were sufficient to create an archetypal facial average. In turn this would make it practical to use face averaging as an identification tool in cases where it would be difficult to recruit a larger number of participants. In generating the average, correcting for size differences among faces was shown to adjust the average outlines of the facial features. It is assumed that 3D facial averaging would help in the identification of the ethnic status of persons whose identity may not be known with certainty. In clinical medicine, it would have a great potential for the diagnosis of syndromes with distinctive facial features. The system would also assist in the education of clinicians in the recognition and identification of such syndromes.

Bilateral familial vertical Duane Syndrome with synergistic convergence, aberrant trigeminal innervation, and facial hypoplasia

Directory of Open Access Journals (Sweden)

Malvika Gupta

2014-01-01

Full Text Available A 5-year-old girl presented with bilateral familial vertical  Duane retraction syndrome with alternating esotropia, elevation deficit, Marcus gunn phenomenon, and facial hypoplasia. Abnormal adducting downshoots on attempting abduction suggestive of a synergistic convergence were noted. Hypothesis suggests aberrant innervations or peripheral anatomic connections between inferior and medial recti.

Head, Neck, and Oral Cancer

Medline Plus

Full Text Available ... Oral, Head and Neck Pathology TMJ and Facial Pain Wisdom Teeth Management Procedures Anesthesia Anesthesia Oral and maxillofacial surgeons are ... more. TMJ and Facial Pain TMJ and Facial ... Teeth Management Wisdom Teeth Management An impacted wisdom tooth can ...

[Multidisciplinary approach of facial injuries

NARCIS (Netherlands)

Dubois, L.; Schreurs, R.; Lapid, O.; Saeed, P.; Adriaensen, G.F.; Hoefnagels, F.M.; Jong, V.M. de

2017-01-01

BACKGROUND: Approximately one quarter of polytrauma patients has facial injuries, which usually lead to loss of form and function. Several specialties are involved in the acute and reconstructive phases of facial injuries, such as oral and maxillofacial surgery, otorhinolaryngology, plastic surgery,

Brain imaging findings of patients with congenital cataracts, facial dysmorphism neuropathy syndrome

International Nuclear Information System (INIS)

Zlatareva, D.; Penev, L.; Hadjidekov, V.; Chamova, T.; Guergeltcheva, V.; Tournev, I.; Tournev, I.; Bojinova, V.; Kaprelian, A.; Tzoneva, D.

2012-01-01

Congenital cataracts, facial dysmorphism neuropathy (CCFDN) syndrome is a rare genetic disorder of autosomal recessive inheritance, observed in patients of Gypsy ancestry. All patients are homozygous for the same mutation in the CTDP1 gene mapping to 18qter. The clinical manifestations of the disease include congenital cataracts, facial dysmorphism, peripheral neuropathy due to primary hypomyelination, intellectual impairment and involvement of central nervous system.The aim of this study is to analyze CNS magnetic resonance imaging findings of patients with CCFDN syndrome and to apply severity score system. MRI of 20 patients (10 children - 4 girls and 6 boys and 10 adults - 6 women and 4 men with CCFDN was performed on 1,5T unit. We apply severity score system (previously used for metachromatic leukodystrophy) to evaluate patients with CCFDN which was adapted to the changes observed in CCFDN patients. This score system assessed WM involvement, as well as the presence of cerebral and cerebellar atrophy. We have found pathologic findings in 19 patients (95%). White matter hyperintensities were found in 18 and cerebral atrophy in 18 patients. The severity score have varied from 0 to 18 points. In contrast to previous studies we have found higher frequency of white matter hyperintensities. The findings are more prominent with patients' age. The most common MRI findings are cerebral atrophy and periventricular hyperintensities. This study gives the first detailed description of MRI findings in CCFDN syndrome patients where severity score system was applied. The score system could be applied in follow-up studies to evaluate progression of CNS findings. (authors)

Student Teachers' Evaluations of Slides of Children with Down Syndrome: Impact of Facial Plastic Surgery, Labelling and Factual Knowledge.

Science.gov (United States)

Elkabetz, R.; And Others

1990-01-01

This study examined the impact of facial plastic surgery, labeling (mentally retarded, normal, Down's syndrome), and level of knowledge of Down's syndrome on 127 student teachers' evaluations of slides of persons with such characteristics. Although there was no overall significant main effect for the pre-post operation condition, there was a…

[Changes in facial nerve function, morphology and neurotrophic factor III expression following three types of facial nerve injury].

Science.gov (United States)

Zhang, Lili; Wang, Haibo; Fan, Zhaomin; Han, Yuechen; Xu, Lei; Zhang, Haiyan

2011-01-01

To study the changes in facial nerve function, morphology and neurotrophic factor III (NT-3) expression following three types of facial nerve injury. Changes in facial nerve function (in terms of blink reflex (BF), vibrissae movement (VM) and position of nasal tip) were assessed in 45 rats in response to three types of facial nerve injury: partial section of the extratemporal segment (group one), partial section of the facial canal segment (group two) and complete transection of the facial canal segment lesion (group three). All facial nerves specimen were then cut into two parts at the site of the lesion after being taken from the lesion site on 1st, 7th, 21st post-surgery-days (PSD). Changes of morphology and NT-3 expression were evaluated using the improved trichrome stain and immunohistochemistry techniques ,respectively. Changes in facial nerve function: In group 1, all animals had no blink reflex (BF) and weak vibrissae movement (VM) at the 1st PSD; The blink reflex in 80% of the rats recovered partly and the vibrissae movement in 40% of the rats returned to normal at the 7th PSD; The facial nerve function in 600 of the rats was almost normal at the 21st PSD. In group 2, all left facial nerve paralyzed at the 1st PSD; The blink reflex partly recovered in 40% of the rats and the vibrissae movement was weak in 80% of the rats at the 7th PSD; 8000 of the rats'BF were almost normal and 40% of the rats' VM completely recovered at the 21st PSD. In group 3, The recovery couldn't happen at anytime. Changes in morphology: In group 1, the size of nerve fiber differed in facial canal segment and some of myelin sheath and axons degenerated at the 7th PSD; The fibres' degeneration turned into regeneration at the 21st PSD; In group 2, the morphologic changes in this group were familiar with the group 1 while the degenerated fibers were more and dispersed in transection at the 7th PSD; Regeneration of nerve fibers happened at the 21st PSD. In group 3, most of the fibers

Q-Switched Nd:YAG Laser Removal of Facial Amateur Tattoos in Patients With Fitzpatrick Type VI: Case Series.

Science.gov (United States)

Haik, Josef; Kornhaber, Rachel; Harats, Moti; Israeli, Hadar; Orenstein, Arie

2016-11-01

Q-switched neodymium:YAG (Nd:YAG) lasers are reported to be gold standard for laser tattoo removal. In particular, the Q-switched Nd:YAG laser at 1064 nm is widely recognized for the removal of blue/black amateur tattoos. However, treatment modalities in Fitzpatrick Type VI skin carry a greater risk of complications including alterations in pigmentation compared to fairer skin (Fitzpatrick Type I-IV skin). Therefore, the aim of this case series was to describe with the use of the Q-Switched Nd:YAG laser, the removal of carbon-based amateur tattoos on patients with Fitzpatrick Type VI skin as an effective and safe method. Twenty- five patients with Fitzpatrick type VI skin, from Ethiopian origins, with facial tribal tattoos, were treated with the Q- Switched Nd:YAG laser at 1064 nm. Digital images were taken upon every treatment and the clearance rates of the tattoo was evalu- ated by imaging software. We observed an average tattoo clearance rate of 95% among the 45 facial tattoos in 25 patients presented in the case series with minimal pigmentary and textual changes evident. These positive aesthetic results have a signi cant psychosocial impact on the lives of those with Fitzpatrick Type VI skin, in particular the Ethiopian Jewish population. J Drugs Dermatol. 2016;15(11):1448-1452..

Failure to thrive in infants with complicated facial hemangiomas.

Science.gov (United States)

Thomas, Meghan W; Burkhart, Craig N; Vaghani, Sapna P; Morrell, Dean S; Wagner, Annette M

2012-01-01

We have observed that some children with facial hemangiomas of infancy have feeding difficulties coincident with periods of failure to thrive. We evaluated the early oral sensory and feeding experiences of four children with facial hemangiomas through medical record review and parental surveys to investigate their contribution to the patients' failure to thrive. All children with feeding irregularities experienced some degree of oral sensory impairment and required early oral sensory intervention, but there were varying reports of difficulty or delay in the development of oral feeding. The nature of these difficulties is discussed. Infants with complicated facial hemangiomas with perioral and airway involvement may be at higher risk for feeding and oral sensory problems. We recommend close monitoring for failure to thrive and early evaluation by speech or occupational therapists. © 2011 Wiley Periodicals, Inc.

Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?

Science.gov (United States)

Quade, Annegret; Wiesmann, Martin; Weis, Joachim; Kurth, Ingo; Jalaie, Houman; Rohrbach, Marianne; Häusler, Martin

2017-09-01

Patients with the kyphoscoliotic type of Ehlers-Danlos syndrome have an increased risk of vascular complications such as aortic dissection and perforation. Cerebral ischemia has only rarely been documented. This 13-year-old girl with the kyphoscoliotic type of Ehlers-Danlos syndrome experienced a large right middle cerebral artery distribution infarction. Full intravenous heparinization was started in response to presumed arterial dissection. Magnetic resonance imaging studies including magnetic resonance angiography and digital subtraction angiography, however, did not confirm dissection but suggested with cerebral vasculitis extending from the intradural right internal carotid artery to the M2 branches of the middle cerebral artery. Combined steroid and cyclophosphamide therapy was associated with clinical improvement. Two months later she died from hemorrhagic shock caused by a two-sided spontaneous rupture of the aortic artery. Cerebral vasculitis should be included in the differential diagnosis of vascular complications in kyphoscoliotic type of Ehlers-Danlos syndrome. Copyright © 2017 Elsevier Inc. All rights reserved.

The digital Emily project: achieving a photorealistic digital actor.

Science.gov (United States)

Alexander, Oleg; Rogers, Mike; Lambeth, William; Chiang, Jen-Yuan; Ma, Wan-Chun; Wang, Chuan-Chang; Debevec, Paul

2010-01-01

The Digital Emily Project uses advanced face scanning, character rigging, performance capture, and compositing to achieve one of the world's first photorealistic digital facial performances. The project scanned the geometry and reflectance of actress Emily O'Brien's face in 33 poses, showing different emotions, gaze directions, and lip formations in a light stage. These high-resolution scans-accurate to skin pores and fine wrinkles-became the basis for building a blendshape-based facial-animation rig whose expressions closely matched the scans. The blendshape rig drove displacement maps to add dynamic surface detail. A video-based facial animation system animated the face according to the performance in a reference video, and the digital face was tracked onto the video's motion and rendered under the same illumination. The result was a realistic 3D digital facial performance credited as one of the first to cross the "uncanny valley" between animated and fully human performances.

Tipologia facial aplicada à Fonoaudiologia: revisão de literatura Facial types applied to Speech-Language Pathology: literature review

Directory of Open Access Journals (Sweden)

Rossana Ribeiro Ramires

2010-01-01

Full Text Available A face humana, com suas estruturas ósseas e musculares, apresenta características próprias e peculiares. Pode ser classificada em três tipos básicos, os quais têm relação com a variação do formato e da configuração craniofacial, tanto no sentido vertical como no horizontal e influenciam diretamente a oclusão dentária, harmonia facial, musculatura orofacial e funções estomatognáticas. Por essa razão, diagnosticar o tipo facial é importante para a clínica fonoaudiólogica. O objetivo deste estudo foi realizar uma revisão de literatura relacionada às características dos tipos faciais e apresentar as pesquisas e os estudos mais recentes sobre o tema. Para atingir tal meta, fez-se um levantamento bibliográfico nas bases de dados LILACS, SciELO, Web of Science e Google Acadêmico, além de livros, dissertações e teses sobre o assunto dos últimos dez anos. Várias pesquisas em campo comprovaram algumas características dos tipos faciais encontradas, principalmente, em referências mais antigas. Alguns aspectos, porém, foram controversos ao se comparar os tipos faciais como a atividade eletromiográfica do músculo masseter, modo respiratório e o comprimento do lábio superior e do filtro. Pôde-se constatar que conhecer o tipo facial e correlacioná-lo às funções estomatognáticas, musculatura e oclusão é um fator importante para a prática clínica, mas o profissional deve ser flexível ao comparar as características do paciente com a literatura. Dessa forma, pode-se evitar determinar uma anormalidade ou atipia quando não for o caso, e ocorrer apenas uma variabilidade ou adaptação.The human face, with its bone and muscular structures, present singular and peculiar characteristics. It may be classified in three basic types, which are related with shape variation and craniofacial configuration, both vertically and horizontally, influencing directly the dental occlusion, facial harmony, orofacial muscles and

[Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome].

Science.gov (United States)

Berio, A; Trucchi, R; Meliota, M

1992-05-01

The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' tumour; Sotos' syndrome; Goldenhar's syndrome). The Authors emphasise the possibility of diagnosing these multiple deformity syndromes from maxillo-facial alterations in early infancy; anomalous tooth position and structure cal also be successfully treated immediately after the first appearance of teeth. This is a particularly promising field of pediatrics and preventive pediatric medicine.

Practical Application of Anatomy of the Oral Cavity in Forensic Facial Reconstruction

Science.gov (United States)

Dias, Paulo Eduardo Miamoto; Beaini, Thiago Leite; Melani, Rodolfo Francisco Haltenhoff

2016-01-01

The oral cavity’s importance in defining the facial region makes it a primary feature for forensic facial reconstruction (FFR). The aim of this study is to construct a pattern of reference for dimensions and proportions of the lips and establish parameters that may help estimate the vermilion borders’ height dimensions and the mouth’s width. By means of cone beam computed tomography, divided into two samples: sample 1 (n = 322; 137 male, 185 female) verified the linear distances delimited by anatomical landmarks in soft tissue. The sample 2 (n = 108; 40 male, 68 female), verified the proportions among the height of the vermilion borders, width of the mouth, and linear distances between craniometric landmarks in hard tissues, both from a Brazilian database. The measurements were completed using OsiriX, and the results were analyzed by means of descriptive statistics at a level of significance of 5%. The height of the vermilion borders corresponded to approximately 26% of the width of the mouth. The width of the mouth increased over the course of time in men and remained stable in women. In men, a mean intercanine distance of 75% of the total mouth’s width was found; for women, it was 80%. The parameters of the relations between soft and hard tissues in the oral cavity region presented that the distance between landmarks ID-SM (Infradentale-Supramentale) corresponded to 55% of the height of the vermilion borders of the mouth for both sexes, while the distance between landmarks PM-SD (Philtrum medium-Supradentale) corresponded to 85% in men and 88% in women. Mean values of 97% of the width of the mouth in women and 93% in men were attributed to the distance between the mentonian foramina. It was not possible to estimate the height of the labial vermilion borders by the bone measurements, FIs-Fli (Foramen incisivus superius-inferius) and NS-GN (Nasospinale-Gnathion). Profound knowledge of the anatomy and morphology of the oral cavity may contribute to

Oral health status of children with treacher Collins syndrome.

Science.gov (United States)

da Silva Dalben, Gisele; Teixeira das Neves, Lucimara; Ribeiro Gomide, Marcia

2006-01-01

There is a lack of data on the oral health status of individuals with craniofacial syndromes. A group of 15 children with Treacher Collins syndrome, aged 5 to 15 years old, was examined and evaluated for plaque, caries and gingival problems. The ability of the patients to clean their teeth was also investigated. A high plaque index and poor efficacy of tooth-brushing was recorded. The caries and gingival indexes were not proportionally as high as the plaque accumulation. There was no association between the gingival index and presence of mouth breathing. There was predominance of the D component in both the dmft and DMFT indexes; this was associated with a need for restorative dental treatment in 60% of the patients, which indicated the need for dental care for these patients. Caretakers should be informed of the importance of oral health and oral hygiene and encouraged to take responsibility for the oral care of the children living at home.

Facial nerve palsy after reactivation of herpes simplex virus type 1 in diabetic mice.

Science.gov (United States)

Esaki, Shinichi; Yamano, Koji; Katsumi, Sachiyo; Minakata, Toshiya; Murakami, Shingo

2015-04-01

Bell's palsy is highly associated with diabetes mellitus (DM). Either the reactivation of herpes simplex virus type 1 (HSV-1) or diabetic mononeuropathy has been proposed to cause the facial paralysis observed in DM patients. However, distinguishing whether the facial palsy is caused by herpetic neuritis or diabetic mononeuropathy is difficult. We previously reported that facial paralysis was aggravated in DM mice after HSV-1 inoculation of the murine auricle. In the current study, we induced HSV-1 reactivation by an auricular scratch following DM induction with streptozotocin (STZ). Controlled animal study. Diabetes mellitus was induced with streptozotocin injection in only mice that developed transient facial nerve paralysis with HSV-1. Recurrent facial palsy was induced after HSV-1 reactivation by auricular scratch. After DM induction, the number of cluster of differentiation 3 (CD3)(+) T cells decreased by 70% in the DM mice, and facial nerve palsy recurred in 13% of the DM mice. Herpes simplex virus type 1 deoxyribonucleic acid (DNA) was detected in the facial nerve of all of the DM mice with palsy, and HSV-1 capsids were found in the geniculate ganglion using electron microscopy. Herpes simplex virus type 1 DNA was also found in some of the DM mice without palsy, which suggested the subclinical reactivation of HSV-1. These results suggested that HSV-1 reactivation in the geniculate ganglion may be the main causative factor of the increased incidence of facial paralysis in DM patients. © 2014 The American Laryngological, Rhinological and Otological Society, Inc.

Processing of Facial Expressions of Emotions by Adults with Down Syndrome and Moderate Intellectual Disability

Science.gov (United States)

Carvajal, Fernando; Fernandez-Alcaraz, Camino; Rueda, Maria; Sarrion, Louise

2012-01-01

The processing of facial expressions of emotions by 23 adults with Down syndrome and moderate intellectual disability was compared with that of adults with intellectual disability of other etiologies (24 matched in cognitive level and 26 with mild intellectual disability). Each participant performed 4 tasks of the Florida Affect Battery and an…

Delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases: a new syndrome?

OpenAIRE

Méhes, K

1993-01-01

A 4 year 9 month old boy and his 3 year 5 month old sister presented with delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases. The same features were found in their mother, but the father had no such anomalies. To our knowledge this familial association has not been described before and may represent an autosomal dominant syndrome.

Syndrome identification based on 2D analysis software.

Science.gov (United States)

Boehringer, Stefan; Vollmar, Tobias; Tasse, Christiane; Wurtz, Rolf P; Gillessen-Kaesbach, Gabriele; Horsthemke, Bernhard; Wieczorek, Dagmar

2006-10-01

Clinical evaluation of children with developmental delay continues to present a challenge to the clinicians. In many cases, the face provides important information to diagnose a condition. However, database support with respect to facial traits is limited at present. Computer-based analyses of 2D and 3D representations of faces have been developed, but it is unclear how well a larger number of conditions can be handled by such systems. We have therefore analysed 2D pictures of patients each being affected with one of 10 syndromes (fragile X syndrome; Cornelia de Lange syndrome; Williams-Beuren syndrome; Prader-Willi syndrome; Mucopolysaccharidosis type III; Cri-du-chat syndrome; Smith-Lemli-Opitz syndrome; Sotos syndrome; Microdeletion 22q11.2; Noonan syndrome). We can show that a classification accuracy of >75% can be achieved for a computer-based diagnosis among the 10 syndromes, which is about the same accuracy achieved for five syndromes in a previous study. Pairwise discrimination of syndromes ranges from 80 to 99%. Furthermore, we can demonstrate that the criteria used by the computer decisions match clinical observations in many cases. These findings indicate that computer-based picture analysis might be a helpful addition to existing database systems, which are meant to assist in syndrome diagnosis, especially as data acquisition is straightforward and involves off-the-shelf digital camera equipment.

An unusual case of adolescent type 2 diabetes mellitus: Prader-Willi syndrome

Directory of Open Access Journals (Sweden)

Riyas Basheer

2016-01-01

Full Text Available Prader-Willi syndrome (PWS is a complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features. Here we report a 21-year-old male who presented with uncontrolled glycemic status. He was diagnosed to have diabetes mellitus at the age of 15 with osmotic symptoms - polyuria, polydipsia, and polyphagia. In the early period, after diagnosis, his blood sugars were reasonably controlled with oral hypoglycemic agents. However, a year back, he was switched onto insulin therapy due to secondary OHA failure. On examination, his body mass index was 36 kg/m 2 . He had bilateral gynecomastia, decreased biparietal diameter, almond shaped eyes with esotropia. He had hypogonadism and also had mild cognitive impairment. He did not have any proximal myopathy or other focal neurological deficits. Hormonal evaluation showed low testosterone and inappropriately normal fluorescence in situ hybridization suggestive of central hypogonadism. With fetal and neonatal hypotonia, delayed developmental milestones, hypogonadism, and early onset diabetes, he fulfilled the clinical criteria for the diagnosis of PWS. Multidisciplinary approach of clinicians together with family and social support are essential to bring out the optimal outcome for such syndromic cases.

An unusual case of adolescent type 2 diabetes mellitus: Prader–Willi syndrome

Science.gov (United States)

Basheer, Riyas; Jalal, Muhammed Jasim Abdul; Gomez, Ramesh

2016-01-01

Prader–Willi syndrome (PWS) is a complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features. Here we report a 21-year-old male who presented with uncontrolled glycemic status. He was diagnosed to have diabetes mellitus at the age of 15 with osmotic symptoms – polyuria, polydipsia, and polyphagia. In the early period, after diagnosis, his blood sugars were reasonably controlled with oral hypoglycemic agents. However, a year back, he was switched onto insulin therapy due to secondary OHA failure. On examination, his body mass index was 36 kg/m2. He had bilateral gynecomastia, decreased biparietal diameter, almond shaped eyes with esotropia. He had hypogonadism and also had mild cognitive impairment. He did not have any proximal myopathy or other focal neurological deficits. Hormonal evaluation showed low testosterone and inappropriately normal fluorescence in situ hybridization suggestive of central hypogonadism. With fetal and neonatal hypotonia, delayed developmental milestones, hypogonadism, and early onset diabetes, he fulfilled the clinical criteria for the diagnosis of PWS. Multidisciplinary approach of clinicians together with family and social support are essential to bring out the optimal outcome for such syndromic cases. PMID:27453871

An unusual case of adolescent type 2 diabetes mellitus: Prader-Willi syndrome.

Science.gov (United States)

Basheer, Riyas; Jalal, Muhammed Jasim Abdul; Gomez, Ramesh

2016-01-01

Prader-Willi syndrome (PWS) is a complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features. Here we report a 21-year-old male who presented with uncontrolled glycemic status. He was diagnosed to have diabetes mellitus at the age of 15 with osmotic symptoms - polyuria, polydipsia, and polyphagia. In the early period, after diagnosis, his blood sugars were reasonably controlled with oral hypoglycemic agents. However, a year back, he was switched onto insulin therapy due to secondary OHA failure. On examination, his body mass index was 36 kg/m(2). He had bilateral gynecomastia, decreased biparietal diameter, almond shaped eyes with esotropia. He had hypogonadism and also had mild cognitive impairment. He did not have any proximal myopathy or other focal neurological deficits. Hormonal evaluation showed low testosterone and inappropriately normal fluorescence in situ hybridization suggestive of central hypogonadism. With fetal and neonatal hypotonia, delayed developmental milestones, hypogonadism, and early onset diabetes, he fulfilled the clinical criteria for the diagnosis of PWS. Multidisciplinary approach of clinicians together with family and social support are essential to bring out the optimal outcome for such syndromic cases.

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

Science.gov (United States)

Zarate, Yuri A; Bhoj, Elizabeth; Kaylor, Julie; Li, Dong; Tsurusaki, Yoshinori; Miyake, Noriko; Matsumoto, Naomichi; Phadke, Shubha; Escobar, Luis; Irani, Afifa; Hakonarson, Hakon; Schrier Vergano, Samantha A

2016-08-01

Coffin-Siris syndrome (CSS, MIM 135900), is a well-described, multiple congenital anomaly syndrome characterized by coarse facial features, hypertrichosis, sparse scalp hair, and hypo/aplastic digital nails and phalanges, typically of the 5th digits. Mutations in the BAF (SWI/SNF)-complex subunits (SMARCA4, SMARCE1, SMARCB1, SMARCA2, ARID1B, and ARID1A) have been shown to cause not only CSS, but also related disorders including Nicolaides-Baraitser (MIM 601358) syndrome and ARID1B-intellectual disability syndrome (MIM 614562). At least 200 individuals with CSS have been found to have a mutation in the BAF pathway. However, to date, only three individuals with CSS have been reported to have pathogenic variants in SMARCE1. We report here three additional individuals with clinical features consistent with CSS and alterations in SMARCE1, one of which is novel. The probands all exhibited dysmorphic facial features, moderate developmental and cognitive delay, poor growth, and hypoplastic digital nails/phalanges, including digits not typically affected in the other genes associated with CSS. Two of the three probands had a variety of different organ system anomalies, including cardiac disease, genitourinary abnormalities, feeding difficulties, and vision abnormalities. The 3rd proband has not had further investigative studies. Although an increasing number of individuals are being diagnosed with disorders in the BAF pathway, SMARCE1 is the least common of these genes. This report doubles the number of probands with these mutations, and allows for better phenotypic information of this rare syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

SMARCE1, a Rare Cause of Coffin–Siris Syndrome: Clinical Description of Three Additional Cases

Science.gov (United States)

Zarate, Yuri A.; Bhoj, Elizabeth; Kaylor, Julie; Li, Dong; Tsurusaki, Yoshinori; Miyake, Noriko; Matsumoto, Naomichi; Phadke, Shubha; Escobar, Luis; Irani, Afifa; Hakonarson, Hakon; Schrier Vergano, Samantha A.

2018-01-01

Coffin–Siris syndrome (CSS, MIM 135900), is a well-described, multiple congenital anomaly syndrome characterized by coarse facial features, hypertrichosis, sparse scalp hair, and hypo/aplastic digital nails and phalanges, typically of the 5th digits. Mutations in the BAF (SWI/SNF)-complex subunits (SMARCA4, SMARCE1, SMARCB1, SMARCA2, ARID1B, and ARID1A) have been shown to cause not only CSS, but also related disorders including Nicolaides–Baraitser (MIM 601358) syndrome and ARID1B-intellectual disability syndrome (MIM 614562).At least 200 individuals with CSS have been found to have a mutation in the BAF pathway. However, to date, only three individuals with CSS have been reported to have pathogenic variants in SMARCE1. We report here three additional individuals with clinical features consistent with CSS and alterations in SMARCE1, one of which is novel. The probands all exhibited dysmorphic facial features, moderate developmental and cognitive delay, poor growth, and hypoplastic digital nails/phalanges, including digits not typically affected in the other genes associated with CSS. Two of the three probands had a variety of different organ system anomalies, including cardiac disease, genitourinary abnormalities, feeding difficulties, and vision abnormalities. The 3rd proband has not had further investigative studies. Although an increasing number of individuals are being diagnosed with disorders in the BAF pathway, SMARCE1 is the least common of these genes. This report doubles the number of probands with these mutations, and allows for better phenotypic information of this rare syndrome. PMID:27264197

A rare case of concomitant sicca keratopathy and ipsilateral central facial palsy in Wallenberg’s dorsolateral medullary syndrome

Directory of Open Access Journals (Sweden)

De Bruyn, Deborah

2017-03-01

Full Text Available Objective: To describe a patient with a right-sided supranuclear facial palsy and concomitant sicca keratopathy of the right eye following right-sided dorsolateral medullary infarction. Methods: Our patient underwent a complete ophthalmologic and neurologic examination including biomicroscopy, fundus examination, cranial nerve examination, Shirmer I test, and magnetic resonance imaging of the brain.Results: A 61-year-old woman presented in emergency with a central facial nerve palsy on the right side and truncal ataxia. Neurologic assessment revealed a concurrent dysphagia, dysarthria, hypoesthesia of the right face, and weakness of the right upper limb. Magnetic resonance imaging of the brain showed an old left-sided cerebellar infarction, but a recent ischemic infarction at the level of the right dorsolateral medulla oblongata was the cause of our patient’s current problems. One month after diagnosis of the right-sided dorsolateral medullary syndrome, there were complaints of ocular irritation and a diminished visual acuity in the right eye. Biomicroscopy showed a sicca keratopathy with nearly complete absence of tear secretion on the Shirmer I test, but with normal eye closure and preserved corneal reflexes and sensitivity.Conclusion: A dorsolateral medullary syndrome can have a variable expression in symptomatology. Our case is special because of the combination of an ipsilateral supranuclear facial palsy with normal upper facial muscle function together with an ipsilateral sicca keratopathy as a result of a nearly absent tear secretion. We hypothesized that the mechanism underlying the patient’s sicca keratopathy ipsilateral to the supranuclear facial palsy involved the superior salivatory nucleus, which is situated in the caudal pons inferiorly of the motor facial nucleus and is most probably affected by a superior extension of the infarcted area in the right medulla oblongata.

Duane retraction syndrome type 1 with Usher syndrome type 2: an unreported association.

Science.gov (United States)

Khurana, Bhawna Piplani; Khurana, Aruj Kumar; Grover, Sumit

2015-05-07

Duane retraction syndrome is characterized by globe retraction and palpebral fissure narrowing on adduction, with restriction of abduction, adduction, or both. Usher syndrome type 2 consists of congenital bilateral sensorineural hearing loss and retinitis pigmentosa. The authors present a case with a yet unreported association between Duane retraction syndrome type 1 and Usher syndrome type 2. Copyright 2015, SLACK Incorporated.

Apert Syndrome: Report of a Case with Emphasis on Oral Manifestations

OpenAIRE

B. Vadiati Saberi; A. Shakoorpour

2011-01-01

To report the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and periodontal disease and soft tissue alterations, in a subject with Apert syndrome. Clinical and radiographic examination of a patient with Apert syndrome, aged 21 years old, not previously submitted for orthodontic or orthognathic treatment. Dental anomalies were present in a patient. Intraoral evaluation revealed poor oral hygiene with varying degrees of periodontal involveme...

Diagnosis and management of recurrent herpetiform stomatitis and Behçet syndrome like recurrent aphthous stomatitis herpetiform type

Directory of Open Access Journals (Sweden)

Endah Ayu Tri Wulandari

2008-11-01

Full Text Available Recurrent Aphthous Stomatitis (RAS is a common inflammatory condition of the oral mucosa. The aetiology of RAS remains unclear, yet there are several predisposing factors which could be involved in the onset of the lesion. The herpetiform type of RAS appeared to be similar to recurrent oral Herpes Simplex infection and also could be part of Behçet Syndrome. This case report discussed a patient suffering from a herpetiform type of RAS with its clinical appearance resembling recurrent oral Herpes Simplex infection and Behçet syndrome. Initial treatment was undertaken based on the empirical treatment, yet the respond was not satisfactory. Then, laboratory tests were undertaken, including complete blood count, the total population of T lymphocyte, B lymphocyte, T helper, T suppressor, NK cells, T helper/T suppressor ratio, C3, C4, IgG, IgA, and IgM. These tests showed that there were immune and hematinic deficiency condition. Nevertheless, the clinical appearance, laboratory findings and consultation did not support the diagnosis of recurrent oral Herpes Simplex infection and Behçet Syndrome, thus, enhancing the definite diagnosis of the herpetiform type of RAS with immune and hematinic deficiency as the underlying condition. Based on the definite diagnosis, treatment plan was then revised to target the underlying condition.

[Impact of facial emotional recognition alterations in Dementia of the Alzheimer type].

Science.gov (United States)

Rubinstein, Wanda; Cossini, Florencia; Politis, Daniel

2016-07-01

Face recognition of basic emotions is independent of other deficits in dementia of the Alzheimer type. Among these deficits, there is disagreement about what emotions are more difficult to recognize. Our aim was to study the presence of alterations in the process of facial recognition of basic emotions, and to investigate if there were differences in the recognition of each type of emotion in Alzheimer's disease. With three tests of recognition of basic facial emotions we evaluated 29 patients who had been diagnosed with dementia of the Alzheimer type and 18 control subjects. Significant differences were obtained in tests of recognition of basic facial emotions and between each. Since the amygdala, one of the brain structures responsible for emotional reaction, is affected in the early stages of this disease, our findings become relevant to understand how this alteration of the process of emotional recognition impacts the difficulties these patients have in both interpersonal relations and behavioral disorders.

Apert syndrome

Directory of Open Access Journals (Sweden)

Premalatha

2010-01-01

Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

Giant canine with dentine anomalies in oculo-facio-cardio-dental syndrome.

Science.gov (United States)

Larhant, Matthieu; Sourice, Sophie; Grimaud, Fanny; Cordoba, Luis; Leveau, Sophie; Huet, Pascal; Corre, Pierre; Khonsari, Roman Hossein

2014-06-01

Radiculomegaly affecting incisors, canines or premolars is a rare radiological finding (Maden et al., 2010) but is pathognomomic of a rare x-linked dominant syndrome called oculo-facio-cardio-dental syndrome (OFCDS). As this syndrome includes cardiac malformations and can lead to blindness due to congenital glaucoma, oral and maxillofacial surgeons should be aware of the somatic anomalies potentially associated with radiculomegaly. We report a typical case of OFCDS and provide the first description of the microscopic dental anomalies associated with this syndrome. Copyright © 2013 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Three-dimensional photography for the evaluation of facial profiles in obstructive sleep apnoea.

Science.gov (United States)

Lin, Shih-Wei; Sutherland, Kate; Liao, Yu-Fang; Cistulli, Peter A; Chuang, Li-Pang; Chou, Yu-Ting; Chang, Chih-Hao; Lee, Chung-Shu; Li, Li-Fu; Chen, Ning-Hung

2018-06-01

Craniofacial structure is an important determinant of obstructive sleep apnoea (OSA) syndrome risk. Three-dimensional stereo-photogrammetry (3dMD) is a novel technique which allows quantification of the craniofacial profile. This study compares the facial images of OSA patients captured by 3dMD to three-dimensional computed tomography (3-D CT) and two-dimensional (2-D) digital photogrammetry. Measurements were correlated with indices of OSA severity. Thirty-eight patients diagnosed with OSA were included, and digital photogrammetry, 3dMD and 3-D CT were performed. Distances, areas, angles and volumes from the images captured by three methods were analysed. Almost all measurements captured by 3dMD showed strong agreement with 3-D CT measurements. Results from 2-D digital photogrammetry showed poor agreement with 3-D CT. Mandibular width, neck perimeter size and maxillary volume measurements correlated well with the severity of OSA using all three imaging methods. Mandibular length, facial width, binocular width, neck width, cranial base triangle area, cranial base area 1 and middle cranial fossa volume correlated well with OSA severity using 3dMD and 3-D CT, but not with 2-D digital photogrammetry. 3dMD provided accurate craniofacial measurements of OSA patients, which were highly concordant with those obtained by CT, while avoiding the radiation associated with CT. © 2018 Asian Pacific Society of Respirology.

Facial paralysis and vestibular syndrome in feedlot cattle in Argentina Paralisia facial e síndrome vestibular de bovinos em confinamento

Directory of Open Access Journals (Sweden)

Ernesto Odriozola

2009-11-01

Full Text Available This paper reports 6 outbreaks of neurological disease associated with paralysis of the facial and vestibulocochlear nerves caused by intracranial space occupying lesions in feedlot cattle. The clinical signs observed were characterized by head tilt, uni or bilateral drooping and paralysis of the ears, eyelid ptosis, keratoconjunctivitis, and different degrees of ataxia. Morbidity and mortality rates ranged from 1.1 to 50% and 0 to 1%, respectively. Gross lesions observed included yellow, thickened leptomeninges, and marked enlargement of the roots of cranial nerves VII (facial and VIII (vestibulocochlear. Histopathologically, there was severe, chronic, granulomatous meningitis and, in one case, chronic, granulomatous neuritis of the VII and VIII cranial nerves. Attempts to identify bacterial, viral, or parasitic agents were unsuccessful. Based on the morphologic lesions, the clinical condition was diagnosed as facial paralysis and vestibular syndrome associated with space occupying lesions in the meninges and the cranial nerves VII and VIII. Feedlot is a practice of growing diffusion in our country and this is a first report of outbreaks of facial paralysis and vestibular disease associated with space occupying lesions in Argentina.Descrevem-se 6 surtos de uma doença neurológica com paralisia dos nervos facial e vestibulo-coclear causada por lesões intracraniais que ocupam espaço em bovinos em confinamento. Os sinais clínicos foram desvio da cabeça, queda e paralisia das orelhas, ptose palpebral, ceratoconjuntivite e diferentes graus de ataxia. As taxas de morbidade e mortalidade foram de 1.1%-50% e de 0-1%, respectivamente. As lesões macroscópicas incluíram engrossamento das meninges, que se apresentavam amareladas, e marcado engrossamento das raízes dos nervos cranianos VII (facial e VIII (vestíbulo-coclear. Histologicamente observaram-se meningite crônica granulomatosa e, em um caso, neurite granulomatosa crônica do VII e VIII

Meretoja’s Syndrome: Lattice Corneal Dystrophy, Gelsolin Type

Directory of Open Access Journals (Sweden)

I. Casal

2017-01-01

Full Text Available Lattice corneal dystrophy gelsolin type was first described in 1969 by Jouko Meretoja, a Finnish ophthalmologist. It is caused by an autosomal dominant mutation in gelsolin gene resulting in unstable protein fragments and amyloid deposition in various organs. The age of onset is usually after the third decade of life and typical diagnostic triad includes progressive bilateral facial paralysis, loose skin, and lattice corneal dystrophy. We report a case of a 53-year-old female patient referred to our Department of Ophthalmology by severe dry eye and incomplete eyelid closure. She had severe bilateral facial paresis, significant orbicularis, and perioral sagging as well as hypoesthesia of extremities and was diagnosed with Meretoja’s syndrome at the age of 50, confirmed by the presence of gelsolin mutation. At our observation she had bilateral diminished tear film break-up time and Schirmer test, diffuse keratitis, corneal opacification, and neovascularization in the left eye. She was treated with preservative-free lubricants and topical cyclosporine, associated with nocturnal complete occlusion of both eyes, and underwent placement of lacrimal punctal plugs. Ocular symptoms are the first to appear and our role as ophthalmologists is essential for the diagnosis, treatment, and monitoring of ocular alterations in these patients.

Head, Neck, and Oral Cancer

Medline Plus

Full Text Available ... and gums to improve function, appearance and oral health. Click here to find out more. Facial Cosmetic ... and gums to improve function, appearance and oral health. Click here to find out more. Facial Cosmetic ...

Digital interactive learning of oral radiographic anatomy.

Science.gov (United States)

Vuchkova, J; Maybury, T; Farah, C S

2012-02-01

Studies reporting high number of diagnostic errors made from radiographs suggest the need to improve the learning of radiographic interpretation in the dental curriculum. Given studies that show student preference for computer-assisted or digital technologies, the purpose of this study was to develop an interactive digital tool and to determine whether it was more successful than a conventional radiology textbook in assisting dental students with the learning of radiographic anatomy. Eighty-eight dental students underwent a learning phase of radiographic anatomy using an interactive digital tool alongside a conventional radiology textbook. The success of the digital tool, when compared to the textbook, was assessed by quantitative means using a radiographic interpretation test and by qualitative means using a structured Likert scale survey, asking students to evaluate their own learning outcomes from the digital tool. Student evaluations of the digital tool showed that almost all participants (95%) indicated that the tool positively enhanced their learning of radiographic anatomy and interpretation. The success of the digital tool in assisting the learning of radiographic interpretation is discussed in the broader context of learning and teaching curricula, and preference (by students) for the use of this digital form when compared to the conventional literate form of the textbook. Whilst traditional textbooks are still valued in the dental curriculum, it is evident that the preference for computer-assisted learning of oral radiographic anatomy enhances the learning experience by enabling students to interact and better engage with the course material. © 2011 John Wiley & Sons A/S.

Head, Neck, and Oral Cancer

Medline Plus

Full Text Available ... mouth and gums to improve function, appearance and oral health. Click here to find out more. Facial Cosmetic ... mouth and gums to improve function, appearance and oral health. Click here to find out more. Facial Cosmetic ...

Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.

Science.gov (United States)

Dieks, Jana-Katharina; Baumer, Alessandra; Wilichowski, Ekkehard; Rauch, Anita; Sigler, Matthias

2014-09-01

To date, the genetic basis of Dubowitz syndrome (short stature, microcephaly, facial abnormalities, eczema) is unknown and vascular complications are not known to be associated with this syndrome. In microcephalic osteodysplastic primordial dwarfism type II (MOPD II; disproportionate short statue, microcephaly, facial abnormalities), however, cerebral aneurysms and other vascular abnormalities are frequent complications. MOPD II is a genetic disorder caused by mutations in the pericentrin (PCNT) gene (21q22). We report on a patient who came to our attention as a 22-year-old with subarachnoid bleeding due to a ruptured cranial aneurysm. Until then, the patient was thought and published to have Dubowitz syndrome; previously, he was treated with coronary bypass surgery for extensive coronary angiopathy. Consecutive genetic testing revealed MOPD II. After clinical stabilization, the patient was discharged to a specialized rehabilitation center where he died due to re-rupture of a cranial aneurysm. In patients with short stature-especially when clinical features are accompanied by vascular complications-MOPD II should be considered as a differential diagnosis leading to consecutive genetic testing. After detection of mutations in the PCNT gene, a full vascular status including cerebral imaging and cardiac evaluation needs to be determined in order to analyze vascular abnormalities and initiate prophylactic treatment.

Usher syndrome type III can mimic other types of Usher syndrome.

Science.gov (United States)

Pennings, Ronald J E; Fields, Randall R; Huygen, Patrick L M; Deutman, August F; Kimberling, William J; Cremers, Cor W R J

2003-06-01

Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149-152delCAGG + insTGTCCAAT. One individual (IV:1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata albescens (RPA). The other individual is also profoundly hearing impaired, but has well-developed speech, vestibular areflexia, and retinitis pigmentosa sine pigmento (RPSP). These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired and have normal vestibular function should be tested for USH3 mutations; and that RPA and RPSP can occur as fundoscopic manifestations of pigmentary retinopathy in Usher syndrome.

Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome.

Science.gov (United States)

Manjima, S; Naik, Zameera; Keluskar, Vaishali; Bagewadi, Anjana

2015-03-01

Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome.

Mensuração da evolução terapêutica com paquímetro digital na Paralisia Facial Periférica de Bell Measurement of evolution therapy using a digital caliper in Palsy Bell

Directory of Open Access Journals (Sweden)

Claudia Hosana da Maceno Salvador

2012-01-01

Full Text Available OBJETIVO: avaliar o uso do paquímetro digital na mensuração dos movimentos da mímica facial em diferentes momentos do tratamento fonoaudiológico. MÉTODO: estudo longitudinal prospectivo, em 20 sujeitos com idade entre 07 e 70 anos, sendo 13 do genero feminino e 07 masculino, com diagnóstico de paralisia facial periférica de Bell, atendidos no Ambulatório de Paralisia Facial, da disciplina de otorrinolaringologia de um Hospital Público Universitário. Neste estudo foi adotado o uso de um medidor paquímetro digital da marca Digimess 100.174BL, instrumento com resolução de 0,00mm/152,78mm. As medições foram realizadas no movimento da mímica facial, sempre partindo de um ponto fixo para o ponto móvel nas estruturas: tragus e comissura labial, canto externo do olho e comissura labial e também canto interno do olho e asa do nariz, sendo realizadas pré e pós tratamento fonoaudiológico. A quantificação da incompetência do movimento foi mensurada por meio de porcentagem simples. Foi aplicado teste dos Postos Sinalizados de Wilcoxon, para verificar possíveis diferenças entre ambos os momentos considerados (com e sem movimentos, como as variáveis de interesse. RESULTADOS: as mensurações tiveram um resultado estatisticamente significante (pPURPOSE: to assess the use of the digital caliper in the measurement of the facial mimic movements in different moments of the speech therapy. METHOD: prospective longitudinal study, with 20 subjects between 7 and 70 years-old, 13 females and 7 males, all diagnosed with Bell’s Palsy, attended in the Facial Paralysis Ambulatory, of the otorhinolaryngology subject of a University Public Hospital. The use of a Digimess 100,174BL digital measuring caliper was adopted for this study. The measurements were carried out in the facial mimic movement, always starting from a fixed point to a mobile point in the structures: the tragus and the labial commissure, external corner of the eye and labial

Oral Rehabilitation for Amniotic Band Syndrome: An Unusual Presentation.

Science.gov (United States)

Hotwani, Kavita; Sharma, Krishna

2015-01-01

Amniotic band syndrome (ABS) is a congenital disorder caused by entrapment of fetal parts in fibrous amniotic bands while in utero. The syndrome is underdiagnosed and its presentation is variable. The syndrome has been well described in the pediatric, orthopedic and obstetric literature; however, despite the discernable craniomaxillofacial involvement, ABS has not been reported in the dental literature very often. The present report describes a case of a patient with ABS and concomitant dental findings. How to cite this article: Hotwani K, Sharma K. Oral Rehabilitation for Amniotic Band Syndrome: An Unusual Presentation. Int J Clin Pediatr Dent 2015;8(1):55-57.

Toxicity of oral radiotherapy in patients with acquired immunodeficiency syndrome

International Nuclear Information System (INIS)

Cooper, J.S.; Fried, P.R.

1987-01-01

Although radiotherapy is a standard form of management of head and neck tumors, treatment of the oral cavity in patients who have the acquired immunodeficiency syndrome has produced unacceptable toxicity. Five such patients are described as a warning of enhanced toxicity of oral radiotherapy in this patient population

Oral allergy syndrome to chicory associated with birch pollen allergy

NARCIS (Netherlands)

Cadot, P.; Kochuyt, A.-M.; van Ree, R.; Ceuppens, J. L.

2003-01-01

BACKGROUND: A few cases of IgE-mediated chicory allergy with oral, cutaneous, and/or respiratory symptoms are reported. We present 4 patients with inhalant birch pollen allergy and oral allergy syndrome to chicory. IgE-binding proteins in chicory and cross-reactivity with birch pollen were studied.

[Surgical treatment in otogenic facial nerve palsy].

Science.gov (United States)

Feng, Guo-Dong; Gao, Zhi-Qiang; Zhai, Meng-Yao; Lü, Wei; Qi, Fang; Jiang, Hong; Zha, Yang; Shen, Peng

2008-06-01

To study the character of facial nerve palsy due to four different auris diseases including chronic otitis media, Hunt syndrome, tumor and physical or chemical factors, and to discuss the principles of the surgical management of otogenic facial nerve palsy. The clinical characters of 24 patients with otogenic facial nerve palsy because of the four different auris diseases were retrospectively analyzed, all the cases were performed surgical management from October 1991 to March 2007. Facial nerve function was evaluated with House-Brackmann (HB) grading system. The 24 patients including 10 males and 14 females were analysis, of whom 12 cases due to cholesteatoma, 3 cases due to chronic otitis media, 3 cases due to Hunt syndrome, 2 cases resulted from acute otitis media, 2 cases due to physical or chemical factors and 2 cases due to tumor. All cases were treated with operations included facial nerve decompression, lesion resection with facial nerve decompression and lesion resection without facial nerve decompression, 1 patient's facial nerve was resected because of the tumor. According to HB grade system, I degree recovery was attained in 4 cases, while II degree in 10 cases, III degree in 6 cases, IV degree in 2 cases, V degree in 2 cases and VI degree in 1 case. Removing the lesions completely was the basic factor to the surgery of otogenic facial palsy, moreover, it was important to have facial nerve decompression soon after lesion removal.

Fungal infection of gingiva in a patient with hyperimmunoglobulin-E (Job′s syndrome

Directory of Open Access Journals (Sweden)

D Deepa

2012-01-01

Full Text Available Hyperimmunoglobulin E syndrome (HIES, also known as Job′s syndrome, is a rare primary immunodeficiency characterized by eczema, recurrent skin and lung infections, elevated serum IgE, and connective tissue and skeletal abnormalities. Individuals with HIES share a characteristic facial appearance and many oral manifestations including retained primary dentition, a high-arched palate, variations of the oral mucosa and gingiva, and recurrent oral candidiasis. An 18-year-old lady presented with gingival swelling, bleeding from the gums, recurrent skin infections, and recurrent respiratory infections with intermittent fever. After thorough extra oral, intra oral and radiographic examination, serological investigations were performed. Growth of candida hyphae in the biopsy specimen of gingiva and increased levels of serum IgE with typical extra oral findings established the diagnosis as Job′s syndrome (hyper IgE syndrome. Treatment with anti-fungal antibiotics and phase-I therapy including scaling and root planing followed by gingivoplasty using diode laser (980 nm was performed. HIES was previously defined on the basis of clinical manifestations and laboratory markers that were not specific to the disease. With the identification of STAT3 mutations as the cause of HIES, we can definitively characterize the disease at molecular and immunologic levels. This case emphasizes the role of the dentist in the diagnosis of rare syndromes which alters the treatment plan.

Congenital Midline Tongue Base Mass in An Infant: Lingual Hamartoma

OpenAIRE

Fadzilah, Noraziana; Azman, Mawaddah; See, Goh Bee

2016-01-01

Lingual hamartoma is a rare finding of congenital midline posterior tongue mass. The lesion may be seen as a single anomaly or maybe associated with syndrome especially the Oral Facial Digital Syndrome (OFDS). Here, we report an otherwise normal and healthy two-month-old boy with a congenital midline base of tongue mass presented with snoring and episodic vomiting since the age of 1 month. Tumour excision from the area of foramen of caecum recovered a pinkish pedunculated tumour. Histopatholo...

Application of intra-oral dental scanners in the digital workflow of implantology

NARCIS (Netherlands)

van der Meer, Wicher J; Andriessen, Frank S; Wismeijer, Daniel; Ren, Yijin

2012-01-01

UNLABELLED: Intra-oral scanners will play a central role in digital dentistry in the near future. In this study the accuracy of three intra-oral scanners was compared. MATERIALS AND METHODS: A master model made of stone was fitted with three high precision manufactured PEEK cylinders and scanned

Application of intra-oral dental scanners in the digital workflow of implantology

NARCIS (Netherlands)

van der Meer, W.J.; Andriessen, F.S.; Wismeijer, D.; Ren, Y.

2012-01-01

Intra-oral scanners will play a central role in digital dentistry in the near future. In this study the accuracy of three intra-oral scanners was compared. Materials and methods: A master model made of stone was fitted with three high precision manufactured PEEK cylinders and scanned with three

Reproducibility of the dynamics of facial expressions in unilateral facial palsy.

Science.gov (United States)

Alagha, M A; Ju, X; Morley, S; Ayoub, A

2018-02-01

The aim of this study was to assess the reproducibility of non-verbal facial expressions in unilateral facial paralysis using dynamic four-dimensional (4D) imaging. The Di4D system was used to record five facial expressions of 20 adult patients. The system captured 60 three-dimensional (3D) images per second; each facial expression took 3-4seconds which was recorded in real time. Thus a set of 180 3D facial images was generated for each expression. The procedure was repeated after 30min to assess the reproducibility of the expressions. A mathematical facial mesh consisting of thousands of quasi-point 'vertices' was conformed to the face in order to determine the morphological characteristics in a comprehensive manner. The vertices were tracked throughout the sequence of the 180 images. Five key 3D facial frames from each sequence of images were analyzed. Comparisons were made between the first and second capture of each facial expression to assess the reproducibility of facial movements. Corresponding images were aligned using partial Procrustes analysis, and the root mean square distance between them was calculated and analyzed statistically (paired Student t-test, PFacial expressions of lip purse, cheek puff, and raising of eyebrows were reproducible. Facial expressions of maximum smile and forceful eye closure were not reproducible. The limited coordination of various groups of facial muscles contributed to the lack of reproducibility of these facial expressions. 4D imaging is a useful clinical tool for the assessment of facial expressions. Copyright © 2017 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Mensuração da evolução terapêutica com paquímetro digital na Paralisia Facial Periférica de Bell

Directory of Open Access Journals (Sweden)

Claudia Hosana da Maceno Salvador

2013-06-01

Full Text Available OBJETIVO: avaliar o uso do paquímetro digital na mensuração dos movimentos da mímica facial em diferentes momentos do tratamento fonoaudiológico. MÉTODO: estudo longitudinal prospectivo, em 20 sujeitos com idade entre 07 e 70 anos, sendo 13 do genero feminino e 07 masculino, com diagnóstico de paralisia facial periférica de Bell, atendidos no Ambulatório de Paralisia Facial, da disciplina de otorrinolaringologia de um Hospital Público Universitário. Neste estudo foi adotado o uso de um medidor paquímetro digital da marca Digimess 100.174BL, instrumento com resolução de 0,00mm/152,78mm. As medições foram realizadas no movimento da mímica facial, sempre partindo de um ponto fixo para o ponto móvel nas estruturas: tragus e comissura labial, canto externo do olho e comissura labial e também canto interno do olho e asa do nariz, sendo realizadas pré e pós tratamento fonoaudiológico. A quantificação da incompetência do movimento foi mensurada por meio de porcentagem simples. Foi aplicado teste dos Postos Sinalizados de Wilcoxon, para verificar possíveis diferenças entre ambos os momentos considerados (com e sem movimentos, como as variáveis de interesse. RESULTADOS: as mensurações tiveram um resultado estatisticamente significante (p<0,05 em todas as estruturas medidas propostas (tragus e comissura labial, canto externo do olho e comissura labial e canto interno do olho e asa do nariz, demonstrando que há possibilidades de se fazer medições de movimento e de ausência de movimento utilizando o paquímetro digital. CONCLUSÃO: o paquímetro mostrou ser um instrumento útil que permitiu comparar, de forma objetiva, a evolução da reabilitação da mímica facial na Paralisia Facial Periférica de Bell na amostra estudada.

Oral glucose tolerance test predicts increased carotid plaque burden in patients with acute coronary syndrome.

Directory of Open Access Journals (Sweden)

Thorarinn A Bjarnason

Full Text Available Type 2 diabetes and prediabetes are established risk factors for atherosclerosis. The aim of this study was to evaluate the atherosclerotic plaque burden in the carotid arteries of patients with acute coronary syndrome according to their glycemic status.Patients with acute coronary syndrome and no previous history of type 2 diabetes were consecutively included in the study. Glucose metabolism was evaluated with fasting glucose in plasma, HbA1c and a standard two-hour oral glucose tolerance test. Atherosclerotic plaque in the carotid arteries was evaluated with a standardized ultrasound examination where total plaque area was measured and patients classified as having no plaque or a significant plaque formation.A total of 245 acute coronary syndrome patients (male 78%, 64 years (SD: 10.9 were included. The proportion diagnosed with normal glucose metabolism, prediabetes and type 2 diabetes was 28.6%, 64.1% and 7.3%, respectively. A significant atherosclerotic plaque was found in 48.5%, 66.9% and 72.2% of patients with normal glucose metabolism, prediabetes and type 2 diabetes, respectively. An incremental increase in total plaque area was found from normal glucose metabolism to prediabetes (25.5% and from normal glucose metabolism to type 2 diabetes (35.9% (p = 0.04. When adjusted for conventional cardiovascular risk factors the OR of having significant atherosclerotic plaque in the carotid arteries was 2.17 (95% CI 1.15-4.15 for patients with newly diagnosed dysglycemia compared to patients with normal glucose metabolism. When additionally adjusted for the 2-hour plasma glucose after glucose loading (2hPG the OR attenuated to 1.77 (95% CI 0.83-3.84.Newly detected dysglycemia is an independent predictor of significant atherosclerotic plaque in the carotid arteries with oral glucose tolerance test as a major determinant of carotid plaque burden in this group of individuals with acute coronary syndrome.

Parry-Romberg syndrome in a pediatric patient. A case report.

Directory of Open Access Journals (Sweden)

Edgar Reyes

2015-07-01

Full Text Available The Parry-Romberg syndrome is a rare degenerative disease of unknown etiology that has dental implications. It is characterized by a progressive hemifacial atrophy that appears in the early stages of life. It causes aesthetic, functional and psychological alterations, and has social implications for the patient. There is no definitive treatment for the Parry-Romberg syndrome. Systemic and immune alterations produce oral and maxillofacial manifestations, which need to be managed by specialized dental professionals. The aim of this paper is to do a literature review of the Parry-Romberg syndrome and describe the oral and clinical characteristics of this condition in a 12-year-old male pediatric patient, who had a history of neurological disorders and facial asymmetry on the left side. Dentists require an adequate knowledge of the clinical and dental characteristics of this syndrome. With early diagnosis and appropriate surgical and orthodontic treatment at an early age, they can improve the quality of life of patients and minimize invasive long-term effects.

ORAL ALLERGY SYNDROME

Directory of Open Access Journals (Sweden)

A. V. Sergeev

2011-01-01

Full Text Available Abstract. Oral allergy syndrome (OAS is defined as a set of clinical manifestations caused by IgE-mediated allergic  reactions  that  occur  at  oral  and  pharyngeal  mucosae  in  the  patients  with  pollen  sensitization  after ingestion of certain fruits, vegetables, nuts and spices. OAS arises from cross-reactivity between specific pollen and food allergens, due to similarity of a configuration and amino acid sequence of allergenic molecules. OAS is considered as class II food allergy, being caused by thermo- and chemolabile allergens, and it is rarely combined with generalized manifestations of food allergy. Prevalence and spectrum of the causal allergens depend on a kind of pollen sensitization. In Moscow region, as well as in Northern Europe, allergic sensitization most commonly occurs to the pollen of leaf trees, whereas OAS is mostly connected with ingestion of fruits from Rosaceae family and nuts. Since last years, a newly developed technique of component-resolved molecular diagnosis (CR diagnostics allows of more precise detection of OAS-causing allergen molecules. These data are of extreme importance for administration of adequate nutritional therapy and prediction of SIT efficiency. (Med. Immunol., 2011, vol. 13, N 1, pp 17-28

Decoding of Emotion through Facial Expression, Prosody and Verbal Content in Children and Adolescents with Asperger's Syndrome

Science.gov (United States)

Lindner, Jennifer L.; Rosen, Lee A.

2006-01-01

This study examined differences in the ability to decode emotion through facial expression, prosody, and verbal content between 14 children with Asperger's Syndrome (AS) and 16 typically developing peers. The ability to decode emotion was measured by the Perception of Emotion Test (POET), which portrayed the emotions of happy, angry, sad, and…

Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome

Directory of Open Access Journals (Sweden)

S Manjima

2015-01-01

Full Text Available Gorlin-Goltz syndrome or basal cell nevus syndrome is a comparatively rare syndrome characterized by basal cell nevi, odontogenic keratocysts, and skeletal anomalies. Diagnosis is based on the major and minor clinical and radiographic criteria. Dentist plays a major role in the diagnosis of this disease due to the oral and maxillofacial manifestations of the syndrome. In some cases, jaw cysts are diagnosed by routine radiographs advised by the dentists. Odontogenic keratocysts in such syndromic patients will be multiple and extensive and in some cases results in cortical expansion and facial disfigurement. Thorough clinical examination and investigations prompt an early confirmation of the syndrome, which is very essential to avoid morbidity associated with the syndrome. Here, we report a case of multiple odontogenic cysts in a 16-year-old patient which later was diagnosed as a case of Gorlin Goltz syndrome.

Multidisciplinary treatment approach in Treacher Collins syndrome.

Science.gov (United States)

Hylton, Joseph B; Leon-Salazar, Vladimir; Anderson, Gary C; De Felippe, Nanci L O

2012-01-01

Treacher Collins syndrome (TCS) is a common genetic disorder with high penetrance and phenotypic variability. First and second branchial arches are affected in TCS, resulting in craniofacial and intraoral anomalies such as: severe convex facial profile; mid-face hypoplasia; microtia; eyelid colobomas; mandibular retrognathism; cleft palate; dental hypoplasia; heterotopic teeth; maxillary transverse hypoplasia; anterior open bite; and Angle Class II molar relationship. A high incidence of caries is also a typical finding in TCS patients. Nonetheless, even simple dental restorative procedures can be challenging in this patient population due to other associated medical conditions, such as: congenital heart defects; decreased oropharyngeal airways; hearing loss; and anxiety toward treatment. These patients often require a multidisciplinary treatment approach, including: audiology; speech and language pathology; otorhinolaryngology; general dentistry; orthodontics; oral and maxillofacial surgery; and plastic and reconstructive surgeries to improve facial appearance. This paper's purpose was to present a current understanding of Treacher Collins syndrome etiology, phenotype, and current treatment approaches.

Adolescents with HIV and facial lipoatrophy: response to facial stimulation

Directory of Open Access Journals (Sweden)

Jesus Claudio Gabana-Silveira

2014-08-01

Full Text Available OBJECTIVES: This study evaluated the effects of facial stimulation over the superficial muscles of the face in individuals with facial lipoatrophy associated with human immunodeficiency virus (HIV and with no indication for treatment with polymethyl methacrylate. METHOD: The study sample comprised four adolescents of both genders ranging from 13 to 17 years in age. To participate in the study, the participants had to score six or less points on the Facial Lipoatrophy Index. The facial stimulation program used in our study consisted of 12 weekly 30-minute sessions during which individuals received therapy. The therapy consisted of intra- and extra-oral muscle contraction and stretching maneuvers of the zygomaticus major and minor and the masseter muscles. Pre- and post-treatment results were obtained using anthropometric static measurements of the face and the Facial Lipoatrophy Index. RESULTS: The results suggest that the therapeutic program effectively improved the volume of the buccinators. No significant differences were observed for the measurements of the medial portion of the face, the lateral portion of the face, the volume of the masseter muscle, or Facial Lipoatrophy Index scores. CONCLUSION: The results of our study suggest that facial maneuvers applied to the superficial muscles of the face of adolescents with facial lipoatrophy associated with HIV improved the facial area volume related to the buccinators muscles. We believe that our results will encourage future research with HIV patients, especially for patients who do not have the possibility of receiving an alternative aesthetic treatment.

No association between gingival labial recession and facial type

NARCIS (Netherlands)

Mazurova, K.; Renkema, A.M.; Navratilova, Z.; Katsaros, C.; Fudalej, P.S.

2016-01-01

OBJECTIVE: To evaluate if facial type is a predictor of the development of gingival recession. METHODS: A cohort of 179 orthodontic patients (76 males, 101 females; age before treatment T S = 12.4 years, SD = 0.8) were followed until 5 years post-treatment (T 5 = 20.7 years, SD = 1.2). The presence

The application of digital tomosynthesis to the diagnosis of the styloid process syndrome

International Nuclear Information System (INIS)

Ge Hequan; Zheng Kuihong; Wang Zijun; Huang Minhua; Ying Ligang

2011-01-01

Objective: To investigate the clinical value of digital tomosynthesis in the diagnosis of the styloid process syndrome. Methods: The thirty patients suspected of the styloid process syndrome underwent both multi-slice spiral CT scanning and digital tomosynthesis scanning. Two kinds of imaging were analyzed, and the length and angle of styloid on lateral and AP views were measured. Results: Both images could clearly show the styloid length, size, shape, direction and the relationship with surrounding structures. There was no significant difference in the length, medial angle in the AP position and anterior angle in the lateral position between multi-slice spiral CT scanning and digital tomosynthesis scanning (P>0.1). The styloid length on lateral digital tomosynthesis was significant smaller than that on multi-slice spiral CT scanning (P<0.01). Conclusions: The length of styloid measured should take the AP position as the standard using the digital tomosynthesis technique, which improve the image quality during the diagnosis of the styloid process syndrome and is less coitly and at a lower dose of radiation. Digital tomosynthesis could provide extensive clinical information and preoperative preparation of the very high referential value as CT canning. (authors)

Poor oral health, a potential new geriatric syndrome

NARCIS (Netherlands)

Putten, G.J. van der; Baat, C. de; Visschere, L. De; Schols, J.

2014-01-01

This article presents a brief introduction to the medical aspects of ageing and age-related diseases, and to some geriatric syndromes, followed by a discussion on their impact on general and oral healthcare provision to community-dwelling older people. Recent investigations suggest that inflammation

Touraine Solente Gole syndrome: The elephant skin disease

Directory of Open Access Journals (Sweden)

T. M. Sheeja Rajan

2013-01-01

Full Text Available Touraine Solente Gole syndrome is a rare hereditary syndrome of primary pachydermoperiostosis, with the characteristic triad of pachydermia (or elephant like skin, periostosis and acropachia. A 27-year-old patient presented with aesthetic deformity of forehead due to deep skin folds and coarsening of facial features due to progressive thickening of skin. Associated palmoplantar hyperkeratosis with broadened of finger and toe tips and digital clubbing were noticed. Dermatologic evaluation revealed cutis verticis gyrata of scalp, seborrhoeic hyperplasia of face and hyperhidrosis. Natural history of the disease and aetiopathogenesis were reviewed. Aesthetic correction of forehead through frontal rhytidectomy was attempted.

An introductory analysis of digital infrared thermal imaging guided oral cancer detection using multiresolution rotation invariant texture features

Science.gov (United States)

Chakraborty, M.; Das Gupta, R.; Mukhopadhyay, S.; Anjum, N.; Patsa, S.; Ray, J. G.

2017-03-01

This manuscript presents an analytical treatment on the feasibility of multi-scale Gabor filter bank response for non-invasive oral cancer pre-screening and detection in the long infrared spectrum. Incapability of present healthcare technology to detect oral cancer in budding stage manifests in high mortality rate. The paper contributes a step towards automation in non-invasive computer-aided oral cancer detection using an amalgamation of image processing and machine intelligence paradigms. Previous works have shown the discriminative difference of facial temperature distribution between a normal subject and a patient. The proposed work, for the first time, exploits this difference further by representing the facial Region of Interest(ROI) using multiscale rotation invariant Gabor filter bank responses followed by classification using Radial Basis Function(RBF) kernelized Support Vector Machine(SVM). The proposed study reveals an initial increase in classification accuracy with incrementing image scales followed by degradation of performance; an indication that addition of more and more finer scales tend to embed noisy information instead of discriminative texture patterns. Moreover, the performance is consistently better for filter responses from profile faces compared to frontal faces.This is primarily attributed to the ineptness of Gabor kernels to analyze low spatial frequency components over a small facial surface area. On our dataset comprising of 81 malignant, 59 pre-cancerous, and 63 normal subjects, we achieve state-of-the-art accuracy of 85.16% for normal v/s precancerous and 84.72% for normal v/s malignant classification. This sets a benchmark for further investigation of multiscale feature extraction paradigms in IR spectrum for oral cancer detection.

Effects of a functional COMT polymorphism on brain anatomy and cognitive function in adults with velo-cardio-facial syndrome

NARCIS (Netherlands)

van Amelsvoort, T.; Zinkstok, J.; Figee, M.; Daly, E.; Morris, R.; Owen, M. J.; Murphy, K. C.; de Haan, L.; Linszen, D. H.; Glaser, B.; Murphy, D. G. M.

2008-01-01

BACKGROUND: Velo-cardio-facial syndrome (VCFS) is associated with deletions at chromosome 22q11, abnormalities in brain anatomy and function, and schizophrenia-like psychosis. Thus it is assumed that one or more genes within the deleted region are crucial to brain development. However, relatively

Apert Syndrome: Report of a Case with Emphasis on Oral Manifestations

Directory of Open Access Journals (Sweden)

B. Vadiati Saberi

2011-06-01

Full Text Available To report the oral findings, including dental anomalies, ectopic eruption of the maxillary permanent first molars and periodontal disease and soft tissue alterations, in a subject with Apert syndrome. Clinical and radiographic examination of a patient with Apert syndrome,aged 21 years old, not previously submitted for orthodontic or orthognathic treatment.Dental anomalies were present in a patient. Intraoral evaluation revealed poor oral hygienewith varying degrees of periodontal involvement, an arched swelling (pseudo cleft configuration,class III malocclusion, anterior open bite, posterior crossbite, supernumerary teeth, ectopic eruption and creamy white enamel opacities, an excessively large appearingtongue and a v-shaped maxillary arch. The occurrence of typical lateral palatal swellings agrees with the literature. The high prevalence of dental anomalies and ectopic eruption may suggest a possible etiologic relationship with the syndrome.

Laugier-hunziker syndrome: A rare cause of oral and acral pigmentation

Directory of Open Access Journals (Sweden)

Silonie Sachdeva

2011-01-01

Full Text Available Laugier-Hunziker syndrome (LHS is an acquired, benign pigmentary skin condition involving oral cavity including lower lip in the form of brown black macules 1-5 mm in size, frequently associated with longitudinal melanonychia. There is no underlying systemic abnormality or malignant predisposition associated with LHS, and therefore the prognosis is good. Important differential diagnoses include Peutz Jeghers syndrome and Addison′s disease among other causes of oral and acral pigmentation. Treatment is sought mainly for cosmetic reasons and Q-switched Nd-Yag laser/ Q-switched alexandrite therapy and cryosurgery have been tried with varying success.

Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes

Directory of Open Access Journals (Sweden)

M. Cristina Digilio

2011-07-01

Full Text Available Atrioventricular canal defect (AVCD is a common congenital heart defect (CHD, representing 7.4% of all cardiac malformations, considered secondary to an extracellular matrix anomaly. The AVCD is associated with extracardiac defects in about 75% of the cases. In this review we analyzed different syndromic AVCDs, in particular those associated with polydactyly disorders, which show remarkable genotype-phenotype correlations. Chromo - some imbalances more frequently associated with AVCD include Down syndrome, deletion 8p23 and deletion 3p25, while mendelian disorders include Noonan syndrome and related RASopathies, several polydactyly syndromes, CHARGE and 3C (cranio-cerebello-cardiac syndrome. The complete form of AVCD is prevalent in patients with chromosomal imbalances. Additional cardiac defects are found in patients affected by chromosomal imbalances different from Down syndrome. Left-sided obstructive lesions are prevalently found in patients with RASopathies. Patients with deletion 8p23 often display AVCD with tetralogy of Fallot or with pulmonary valve stenosis. Tetralogy of Fallot is the only additional cardiac defect found in patients with Down syndrome and AVCD. On the other hand, the association of AVCD and tetralogy of Fallot is also quite characteristic of CHARGE and 3C syndromes. Heterotaxia defects, including common atrium and anomalous pulmonary venous return, occur in patients with AVCD associated with polydactyly syndromes (Ellis-van Creveld, short rib polydactyly, oral-facial-digital, Bardet-Biedl, and Smith-Lemli-Opitz syndromes. The initial clinical evidence of anatomic similarities between AVCD and heterotaxia in polydactyly syndromes was corroborated and explained by experimental studies in transgenic mice. These investigations have suggested the involvement of the Sonic Hedgehog pathway in syndromes with postaxial polydactyly and heterotaxia, and ciliary dysfunction was detected as pathomechanism for these disorders

СREATING OF BARCODES FOR FACIAL IMAGES BASED ON INTENSITY GRADIENTS

Directory of Open Access Journals (Sweden)

G. A. Kukharev

2014-05-01

Full Text Available The paper provides analysis of existing approaches to the generating of barcodes and description of the system structure for generating of barcodes from facial images. The method for generating of standard type linear barcodes from facial images is proposed. This method is based on the difference of intensity gradients, which represent images in the form of initial features. Further averaging of these features into a limited number of intervals is performed; the quantization of results into decimal digits from 0 to 9 and table conversion into the standard barcode is done. Testing was conducted on the Face94 database and database of composite faces of different ages. It showed that the proposed method ensures the stability of generated barcodes according to changes of scale, pose and mirroring of facial images, as well as changes of facial expressions and shadows on faces from local lighting. The proposed solutions are computationally low-cost and do not require the use of any specialized image processing software for generating of facial barcodes in real-time systems.

Phenotypic aspects of oral strains of Candida albicans in children with down's syndrome

Directory of Open Access Journals (Sweden)

E. L. Ribeiro

Full Text Available The aim of this article is to characterize the biological aspects of oral strains of C. albicans in children with Down's syndrome. These yeasts were analyzed as to their macromorphological and enzymatic aspects and were tested as to their in vitro susceptibility to antifungal drugs using broth microdilution to determine the minimum inhibitory concentration (MIC. The morphotyping revealed that all oral C. albicans isolates from children with Down's syndrome promoted the formation of fringes regardless of size, while the control group presented smaller fringes. All oral C. albicans strains produced proteinase, but those with phospholipolytic activity showed greater enzyme capacity in the test group. In vitro susceptibility showed that all oral C. albicans isolates were sensitive to the drugs used.

The relationship between the fistula tract and the facial nerve in type II first branchial cleft anomalies.

Science.gov (United States)

Ertas, Burak; Gunaydin, Rıza Onder; Unal, Omer Faruk

2015-04-01

To share our experience involving seven patients with type II first branchial cleft anomalies (hereafter, type II anomalies), to determine whether the location of the external fistula openings of the anomalies are associated with the location of the facial nerve tract, and elucidate the relationship between the location of the fistula opening and the facial nerve. The medical records of seven patients who underwent surgery from 2005 to 2013 for type II anomalies were retrospectively examined. The relationship between the fistula opening and the facial nerve was evaluated in each patient with respect to whether the fistula opening was superior or inferior to the mandibular angle. All patients underwent partial parotidectomy, facial nerve exposure, and total excision of the mass together with connection of a small cuff of the external auditory canal skin to the fistula tract. The fistula tracts were located medially to the facial nerve in two patients, and both fistulae had openings inferior to the mandibular angle. The fistula tracts were located laterally to the facial nerve in the remaining five patients: one patient had no external opening, one had an opening inferior to the mandibular angle, and the remaining three had openings superior to the mandibular angle. Because type II anomalies are rare, their diagnosis is difficult. Surgery of such lesions is challenging and associated with a high risk due to their proximity to the facial nerve. We believe that the location of the fistula opening may help to identify the relationship between the anomalous lesion and facial nerve. Studies involving larger series of cases are needed to confirm our hypothesis; however, because of the rarity of this specific anomaly, it will not be easy to compile a large number of cases. We believe that our study will encourage further investigation on this subject. Copyright © 2014. Published by Elsevier Ireland Ltd.

Comparison of the effect of labiolingual inclination and anteroposterior position of maxillary incisors on esthetic profile in three different facial patterns

Science.gov (United States)

Chirivella, Praveen; Singaraju, Gowri Sankar; Mandava, Prasad; Reddy, V Karunakar; Neravati, Jeevan Kumar; George, Suja Ani

2017-01-01

Objective: To test the null hypothesis that there is no effect of esthetic perception of smiling profile in three different facial types by a change in the maxillary incisor inclination and position. Materials and Methods: A smiling profile photograph with Class I skeletal and dental pattern, normal profile were taken in each of the three facial types dolichofacial, mesofacial, and brachyfacial. Based on the original digital image, 15 smiling profiles in each of the facial types were created using the FACAD software by altering the labiolingual inclination and anteroposterior position of the maxillary incisors. These photographs were rated on a visual analog scale by three panels of examiners consisting of orthodontists, dentists, and nonprofessionals with twenty members in each group. The responses were assessed by analysis of variance (ANOVA) test followed by post hoc Scheffe. Results: Significant differences (P esthetics. The result of the ANOVA showed differences among the three groups for certain facial profiles. Conclusion: The hypothesis was rejected. The esthetic perception of labiolingual inclination and anteroposterior of maxillary incisors differ in different facial types, and this may effect in formulating treatment plans for different facial types. PMID:28197396

Trigeminal Neuralgia, Glossopharyngeal Neuralgia, and Myofascial Pain Dysfunction Syndrome: An Update

Directory of Open Access Journals (Sweden)

Mohammad Khan

2017-01-01

Full Text Available Neuropathic pain is a common phenomenon that affects millions of people worldwide. Maxillofacial structures consist of various tissues that receive frequent stimulation during food digestion. The unique functions (masticatory process and facial expression of the maxillofacial structure require the exquisite organization of both the peripheral and central nervous systems. Neuralgia is painful paroxysmal disorder of the head-neck region characterized by some commonly shared features such as the unilateral pain, transience and recurrence of attacks, and superficial and shock-like pain at a trigger point. These types of pain can be experienced after nerve injury or as a part of diseases that affect peripheral and central nerve function, or they can be psychological. Since the trigeminal and glossopharyngeal nerves innervate the oral structure, trigeminal and glossopharyngeal neuralgia are the most common syndromes following myofascial pain dysfunction syndrome. Nevertheless, misdiagnoses are common. The aim of this review is to discuss the currently available diagnostic procedures and treatment options for trigeminal neuralgia, glossopharyngeal neuralgia, and myofascial pain dysfunction syndrome.

Perceived functional impact of abnormal facial appearance.

Science.gov (United States)

Rankin, Marlene; Borah, Gregory L

2003-06-01

Functional facial deformities are usually described as those that impair respiration, eating, hearing, or speech. Yet facial scars and cutaneous deformities have a significant negative effect on social functionality that has been poorly documented in the scientific literature. Insurance companies are declining payments for reconstructive surgical procedures for facial deformities caused by congenital disabilities and after cancer or trauma operations that do not affect mechanical facial activity. The purpose of this study was to establish a large, sample-based evaluation of the perceived social functioning, interpersonal characteristics, and employability indices for a range of facial appearances (normal and abnormal). Adult volunteer evaluators (n = 210) provided their subjective perceptions based on facial physical appearance, and an analysis of the consequences of facial deformity on parameters of preferential treatment was performed. A two-group comparative research design rated the differences among 10 examples of digitally altered facial photographs of actual patients among various age and ethnic groups with "normal" and "abnormal" congenital deformities or posttrauma scars. Photographs of adult patients with observable congenital and posttraumatic deformities (abnormal) were digitally retouched to eliminate the stigmatic defects (normal). The normal and abnormal photographs of identical patients were evaluated by the large sample study group on nine parameters of social functioning, such as honesty, employability, attractiveness, and effectiveness, using a visual analogue rating scale. Patients with abnormal facial characteristics were rated as significantly less honest (p = 0.007), less employable (p = 0.001), less trustworthy (p = 0.01), less optimistic (p = 0.001), less effective (p = 0.02), less capable (p = 0.002), less intelligent (p = 0.03), less popular (p = 0.001), and less attractive (p = 0.001) than were the same patients with normal facial

[Diagnossis and treatment of complicated anterior teeth esthetic defects by combination of whole-process digital esthetic rehabilitation with periodontic surgery].

Science.gov (United States)

Li, Z; Liu, Y S; Ye, H Q; Liu, Y S; Hu, W J; Zhou, Y S

2017-02-18

To explore a new method of whole-process digital esthetic prosthodontic rehabilitation combined with periodontic surgery for complicated anterior teeth esthetic defects accompanied by soft tissue morphology, to provide an alternative choice for solving this problem under the guidance of three-dimensional (3D) printing digital dental model and surgical guide, thus completing periodontic surgery and digital esthetic rehabilitation of anterior teeth. In this study, 12 patients with complicated esthetic problems accompanied by soft tissue morphology in their anterior teeth were included. The dentition and facial images were obtained by intra-oral scanning and three-dimensional (3D) facial scanning and then calibrated. Two esthetic designs and prosthodontic outcome predictions were created by computer aided design /computer aided manufacturing (CAD/CAM) software combined with digital photography, including consideration of white esthetics and comprehensive consideration of pink-white esthetics. The predictive design of prostheses and the facial appearances of the two designs were evaluated by the patients. If the patients chose the design of comprehensive consideration of pink-white esthetics, they would choose whether they would receive periodontic surgery before esthetic rehabilitation. The dentition design cast of those who chose periodontic surgery would be 3D printed for the guide of periodontic surgery accordingly. In light of the two digital designs based on intra-oral scanning, facing scanning and digital photography, the satisfaction rate of the patients was significantly higher for the comprehensive consideration of pink-white esthetic design (Pesthetic rehabilitation. The 3D printed digital dental model and surgical guide provided significant instructions for periodontic surgery, and achieved success transfer from digital design to clinical application. The prostheses were fabricated by CAD/CAM, thus realizing the whole-process digital esthetic rehabilitation

Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation.

Science.gov (United States)

Cruz, António José; Castro, Alexandra

2013-01-22

A 32-year-old woman with no significant medical history was sent to our consultation due to hypokalaemia (syndrome (GS) came negative. CLCNKB gene mutation analysis present in both GS and Bartter (BS) type 3 syndromes was positive. The patient is now being treated with potassium and magnesium oral supplements, ramipril and spironolactone with stable near-normal potassium and magnesium levels. This article presents the case of a patient with hypokalaemia caused by CLCNKB gene mutation hard to categorise as GS or BS type 3.

Surgical Orthodontic Treatment of a Patient Affected by Type 1 Myotonic Dystrophy (Steinert Syndrome)

OpenAIRE

Cacucci, Laura; Ricci, Beatrice; Moretti, Maria; Gasparini, Giulio; Pelo, Sandro; Grippaudo, Cristina

2017-01-01

Myotonic dystrophy, or Steinert’s disease, is the most common form of muscular dystrophy that occurs in adults. This multisystemic form involves the skeletal muscles but affects also the eye, the endocrine system, the central nervous system, and the cardiac system. The weakness of the facial muscles causes a characteristic facial appearance frequently associated with malocclusions. Young people with myotonic dystrophy, who also have severe malocclusions, have bad oral functions such as chewin...

Quality-of-life improvement after free gracilis muscle transfer for smile restoration in patients with facial paralysis.

Science.gov (United States)

Lindsay, Robin W; Bhama, Prabhat; Hadlock, Tessa A

2014-01-01

Facial paralysis can contribute to disfigurement, psychological difficulties, and an inability to convey emotion via facial expression. In patients unable to perform a meaningful smile, free gracilis muscle transfer (FGMT) can often restore smile function. However, little is known about the impact on disease-specific quality of life. To determine quantitatively whether FGMT improves quality of life in patients with facial paralysis. Prospective evaluation of 154 FGMTs performed at a facial nerve center on 148 patients with facial paralysis. The Facial Clinimetric Evaluation (FaCE) survey and Facial Assessment by Computer Evaluation software (FACE-gram) were used to quantify quality-of-life improvement, oral commissure excursion, and symmetry with smile. Free gracilis muscle transfer. Change in FaCE score, oral commissure excursion, and symmetry with smile. There were 127 successful FGMTs on 124 patients and 14 failed procedures on 13 patients. Mean (SD) FaCE score increased significantly after successful FGMT (42.30 [15.9] vs 58.5 [17.60]; paired 2-tailed t test, P improved significantly in all subgroups (nonflaccid cohort, 37.8 [19.9] vs 52.9 [19.3]; P = .02; flaccid cohort, 43.1 [15.1] vs 59.6 [17.2]; P improved from a mean (SD) of 13.8 (7.46) to 4.88 (3.47) (P improvement in quality of life after FGMT in patients who could not recover a meaningful smile after facial nerve insult. Quality-of-life improvement was not statistically different between donor nerve groups or facial paralysis types.

Reconstruction of facial nerve injuries in children.

Science.gov (United States)

Fattah, Adel; Borschel, Gregory H; Zuker, Ron M

2011-05-01

Facial nerve trauma is uncommon in children, and many spontaneously recover some function; nonetheless, loss of facial nerve activity leads to functional impairment of ocular and oral sphincters and nasal orifice. In many cases, the impediment posed by facial asymmetry and reduced mimetic function more significantly affects the child's psychosocial interactions. As such, reconstruction of the facial nerve affords great benefits in quality of life. The therapeutic strategy is dependent on numerous factors, including the cause of facial nerve injury, the deficit, the prognosis for recovery, and the time elapsed since the injury. The options for treatment include a diverse range of surgical techniques including static lifts and slings, nerve repairs, nerve grafts and nerve transfers, regional, and microvascular free muscle transfer. We review our strategies for addressing facial nerve injuries in children.

Mobious syndrome: MR findings

Directory of Open Access Journals (Sweden)

Maskal Revanna Srinivas

2016-01-01

Full Text Available Möbius syndrome is an extremely rare congenital disorder. We report a case of Möbius syndrome in a 2-year-old girl with bilateral convergent squint and left-sided facial weakness. The characteristic magnetic resonance imaging (MRI findings of Möbius syndrome, which include absent bilateral abducens nerves and absent left facial nerve, were noted. In addition, there was absence of left anterior inferior cerebellar artery (AICA and absence of bilateral facial colliculi. Clinical features, etiology, and imaging findings are discussed.

Design and fabrication of facial prostheses for cancer patient applying computer aided method and manufacturing (CADCAM)

Science.gov (United States)

Din, Tengku Noor Daimah Tengku; Jamayet, Nafij; Rajion, Zainul Ahmad; Luddin, Norhayati; Abdullah, Johari Yap; Abdullah, Abdul Manaf; Yahya, Suzana

2016-12-01

Facial defects are either congenital or caused by trauma or cancer where most of them affect the person appearance. The emotional pressure and low self-esteem are problems commonly related to patient with facial defect. To overcome this problem, silicone prosthesis was designed to cover the defect part. This study describes the techniques in designing and fabrication for facial prosthesis applying computer aided method and manufacturing (CADCAM). The steps of fabricating the facial prosthesis were based on a patient case. The patient was diagnosed for Gorlin Gotz syndrome and came to Hospital Universiti Sains Malaysia (HUSM) for prosthesis. The 3D image of the patient was reconstructed from CT data using MIMICS software. Based on the 3D image, the intercanthal and zygomatic measurements of the patient were compared with available data in the database to find the suitable nose shape. The normal nose shape for the patient was retrieved from the nasal digital library. Mirror imaging technique was used to mirror the facial part. The final design of facial prosthesis including eye, nose and cheek was superimposed to see the result virtually. After the final design was confirmed, the mould design was created. The mould of nasal prosthesis was printed using Objet 3D printer. Silicone casting was done using the 3D print mould. The final prosthesis produced from the computer aided method was acceptable to be used for facial rehabilitation to provide better quality of life.

Designing a digital pedagogical pattern for improving foreign language learners’ oral proficiency

Directory of Open Access Journals (Sweden)

Carina Grobler

2016-09-01

Full Text Available South African undergraduate foreign language students need more opportunity to practise their oral language skills. Not only do appeals to focus more on oral productive skills feature in scholarly literature (Delena-le Roux 2010, it is also one of the main conclusions from a survey among beginner students of French at the Potchefstroom Campus of North-West University (South Africa. It was therefore necessary to design a teaching and learning intervention, specifically aimed at improving beginner students’ oral communication skills in French. Laurillard’s (2012 Conversational Framework inspired the design of a digital pedagogical pattern (DPP, consisting of context and pedagogy descriptors for the development of foreign language learners’ oral communication skills. The Conversational Framework analyses formal learning and challenges the use of new technologies in learning. The implementation process of a DPP for the development of students’ (French oral skills involved three cycles, each with specific outcomes and three groups of participants: the control group and two experimental groups. Field-testing the proposed DPP provided important insights which should be integrated in the design of subsequent digital pedagogical patterns in the specific context: limiting the participant groups to two; decreasing the number of interventions to be implemented in the limited teaching time of a semester; ensuring that each step adheres to the requirements of the Conversational Framework. Student results from the learning interventions in future studies should reveal which intervention better promotes oral communication skills.

Burnout syndrome in oral and maxillofacial surgeons: a critical analysis.

Science.gov (United States)

Porto, G G; Carneiro, S C; Vasconcelos, B C; Nascimento, M M; Leal, J L F

2014-07-01

The aim of this study was to determine the prevalence of burnout syndrome among Brazilian oral and maxillofacial surgeons and its relationship with socio-demographic, clinical, and habit variables. The sample of this study comprised 116 surgeons. The syndrome was quantified using the Maslach Burnout Inventory (General Survey), which defines burnout as the triad of high emotional exhaustion, high depersonalization, and low personal accomplishment. The criteria of Grunfeld et al. were used to evaluate the presence of the syndrome (17.2%). No significant differences between the surgeons diagnosed with and without the syndrome were observed according to age (P=0.804), sex (P=0.197), marital status (P=0.238), number of children (P=0.336), years of professional experience (P=0.102), patients attended per day (P=0.735), hours worked per week (P=0.350), use of alcohol (P=0.148), sports practice (P=0.243), hobbies (P=0.161), or vacation period per year (P=0.215). Significant differences occurred in the variables sex in the emotional exhaustion subscale (P=0.002) and use or not of alcohol in the personal accomplishment subscale (P=0.035). Burnout syndrome among Brazilian surgeons is average, showing a low personal accomplishment. Copyright © 2014 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Velo-cardio-facial syndrome and psychotic disorders: Implications for psychiatric genetics

Energy Technology Data Exchange (ETDEWEB)

Chow, W.C.; Bassett, A.S.; Weksberg, R. [Univ. of Toronto, Ontario (Canada)

1994-06-15

Psychiatric disorders have been reported in over 10% of patients with velo-cardio-facial syndrome (VCFS) in long-term follow-up. To further explore the behavioral and psychiatric findings associated with VCFS in adulthood, detailed clinical histories of two patients - one with VCFS who developed a psychotic illness, and one with schizophrenia who was found to have dysmorphological features associated with VCFS - are described in the current report. The observed overlap of physical and psychiatric symptoms in these two patients suggests that VCFS and psychotic disorders may share a pathogenetic mechanism. This could be consistent with a contiguous gene model for VCFS and psychosis, suggesting chromosome 22q11 as a possible candidate region for genetic studies of schizophrenia. 26 refs., 2 tabs.

Comparison of 3D Scanning Versus 2D Photography for the Identification of Facial Soft-Tissue Landmarks.

Science.gov (United States)

Zogheib, T; Jacobs, R; Bornstein, M M; Agbaje, J O; Anumendem, D; Klazen, Y; Politis, C

2018-01-01

Three dimensional facial scanning is an innovation that provides opportunity for digital data acquisition, smile analysis and communication of treatment plan and outcome with patients. To assess the applicability of 3D facial scanning as compared to 2D clinical photography. Sample consisted of thirty Caucasians aged between 25 and 50 years old, without any dentofacial deformities. Fifteen soft-tissue facial landmarks were identified twice by 3 observers on 2D and 3D images of the 30 subjects. Five linear proportions and nine angular measurements were established in the orbital, nasal and oral regions. These data were compared to anthropometric norms of young Caucasians. Furthermore, a questionnaire was completed by 14 other observers, according to their personal judgment of the 2D and 3D images. Quantitatively, proportions linking the three facial regions in 3D were closer to the clinical standard (for 2D 3.3% and for 3D 1.8% error rate). Qualitatively, in 67% of the cases, observers were as confident about 3D as they were about 2D. Intra-observer Correlation Coefficient (ICC) revealed a better agreement between observers in 3D for the questions related to facial form, lip step and chin posture. The laser facial scanning could be a useful and reliable tool to analyze the circumoral region for orthodontic and orthognathic treatments as well as for plastic surgery planning and outcome.

Clinical-epidemiological profile of oral allergy syndrome in the population aged 6 to 18 years

Directory of Open Access Journals (Sweden)

Amyra Ali Azamar-Jácome

2017-06-01

Full Text Available Background: Oral allergy syndrome (OAS or pollen-fruit syndrome is a type of food allergy. Its characteristics and associated allergens vary according to the studied population. There are few studies in Mexico about this topic, none in children. Objective: To describe clinical and epidemiological characteristics of OAS among children in Mexico. Methods: A descriptive, observational, transversal and prospective study was conducted. We included every patient from 6 to 18 years old with diagnostic suspicion of OAS, in which complete clinical history, skin test to food and pollens, and oral food challenge were performed. Results: We found a prevalence of 5.3% (29 patients: 55% were males. Average age was 10 ± 3 years, and average number of food implicated were 6.8 ± 4.1. Apple, peach and banana, were the most frequent food associated, and sensitization to oak and European privet, the more prevalent pollens found in OAS. Conclusion: OAS is a common type of food allergy, transient and mild in nature. In more than 90% of the cases is associated with allergic rhinitis and sensitization to pollens. In our population, profilins may be involved in its pathogenesis. However, more studies are required to prove this.

Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.

Science.gov (United States)

Carter, Melissa T; Blaser, Susan; Papsin, Blake; Meschino, Wendy; Reardon, Willie; Klatt, Regan; Babul-Hirji, Riyana; Milunsky, Jeff; Chitayat, David

2012-08-01

Hearing impairment is common in individuals with branchio-oculo-facial (BOF) syndrome. The majority of described individuals have conductive hearing impairment due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the hearing impairment in BOF syndrome is increasingly being reported. Sophisticated computed tomography (CT) of the temporal bone has revealed middle and inner ear malformations in three previous reports. We present middle and inner ear abnormalities in three additional individuals with mutation-proven BOF syndrome. We suggest that temporal bone CT imaging be included in the medical workup of a child with BOF syndrome, in order to guide management. Copyright © 2012 Wiley Periodicals, Inc.

Oto-palato-digital syndrome (OPD)

International Nuclear Information System (INIS)

Beluffi, G.; Pazzaglia, U.; Fiori, P.

1987-01-01

Oto-palato-digital (OPD) or Tyabi syndrome is a familiar, X-linked bone dysplasia with intermediate expression, in females or autosomal dominant with more severe manifestations in males. In the past both the clinical features (flat face with sunken and broad nasal bridge, antimongoloid slant of palpebral fissures, palatoschysis, conductive deafness, short and broad thumbs and big toes, nail distrophy) and radiological findings (thick and dense base of the skull, prominence of supraorbital ridges, middle ear bone deformities with denseossicles, large and broad vertebral bodies, posterior defects of neural arches of the vertebrae, carpal and tarsal bone fusion, short and broad nail phalanges) have been well described and established. The present report describes 7 patients (4 females and 3 males) all belonging to the same family (the first described in this country) and all presenting the clinical and radiological features of OPD syndrome. A cranial and spinal CT was performed on one patient, with peculiar findings

Ehlers-Danlos Syndrome Hypermobility Type

Science.gov (United States)

EHLERS-DANLOS SYNDROME HYPERMOBILITY TYPE Ehlers-Danlos syndrome hypermobility type is a connective tissue disorder that mostly affects the bones and joints. People with this condition have loose joints ...

Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome

International Nuclear Information System (INIS)

Gahl, W.A.; Bernardini, I.; Dalakas, M.; Rizzo, W.B.; Harper, G.S.; Hoeg, J.M.; Hurko, O.; Bernar, J.

1988-01-01

11 children with either cystinosis or Lowe's syndrome had a reduced content of plasma and muscle carnitine due to renal Fanconi syndrome. After treatment with oral L-carnitine, 100 mg/kg per d divided every 6 h, plasma carnitine concentrations became normal in all subjects within 2 d. Initial plasma free fatty acid concentrations, inversely related to free carnitine concentrations, were reduced after 7-20 mo of carnitine therapy. Muscle lipid accumulation, which varied directly with duration of carnitine deficiency (r = 0.73), improved significantly in three of seven rebiopsied patients after carnitine therapy. One Lowe's syndrome patient achieved a normal muscle carnitine level after therapy. Muscle carnitine levels remained low in all cystinosis patients, even though cystinotic muscle cells in culture took up L-[ 3 H]carnitine normally. The half-life of plasma carnitine for cystinotic children given a single oral dose approximated 6.3 h; 14% of ingested L-carnitine was excreted within 24 h. Studies in a uremic patient with cystinosis showed that her plasma carnitine was in equilibrium with some larger compartment and may have been maintained by release of carnitine from the muscle during dialysis. Because oral L-carnitine corrects plasma carnitine deficiency, lowers plasma free fatty acid concentrations, and reverses muscle lipid accumulation in some patients, its use as therapy in renal Fanconi syndrome should be considered. However, its efficacy in restoring muscle carnitine to normal, and the optimal dosage regimen, have yet to be determined

Enlarged facial pores: an update on treatments.

Science.gov (United States)

Dong, Joanna; Lanoue, Julien; Goldenberg, Gary

2016-07-01

Enlarged facial pores remain a common dermatologic and cosmetic concern from acne and rosacea, among other conditions, that is difficult to treat due to the multifactorial nature of their pathogenesis and negative impact on patients' quality of life. Enlarged facial pores are primarily treated through addressing associative factors, such as increased sebum production and cutaneous aging. We review the current treatment modalities for enlarged or dense facial pores, including topical retinoids, chemical peels, oral antiandrogens, and lasers and devices, with a focus on newer therapies.

Alcohol percutaneous neurolysis of the sphenopalatine ganglion in the management of refractory cranio-facial pain

International Nuclear Information System (INIS)

Kastler, Adrian; Cadel, Gilles; Gory, Guillaume; Comte, Alexandre; Piccand, Veronique; Tavernier, Laurent; Kastler, Bruno

2014-01-01

The sphenopalatine ganglion (SPN) has been proven to be involved in various types of facial pain syndromes. Management of these cranio-facial pain syndromes can be challenging, and existing specific treatments are sometimes inefficient and may fail. The purpose of this study is to describe and evaluate alcohol SPN in the management of cranio-facial pain. Forty-two patients suffering from refractory facial pain who underwent 58 consecutive SPN were included in this study between 2000 and 2013. Patients were divided into three groups: group ''cluster headache'' (CH), group ''persistent idiopathic facial pain'' (PFIP), and group ''Other''. Pain was assessed using Visual Analogue Scale scores (measured immediately before and after procedure and at regular intervals following the procedure). Alcohol SPN was considered to be effective when pain relief was equal to or greater than 50 % and lasting for at least 1 month. All procedures were realized ambulatory under CT guidance and consisted of an injection of 1 ml of absolute alcohol. Overall efficacy rate of alcohol SPN was 67.2 %, with mean pain relief duration of 10.3 months. Procedure was graded either not painful or tolerable by patients in 64.2 %. Analysis showed a higher efficacy rate in the groups CH (76.5 %) and PFIP (85.7 %) compared to the group Other (40 %). No difference was found between groups regarding the recurrence rate. Alcohol SPN under CT guidance appears as a safe and effective treatment of refractory facial pain, especially in cases of cluster headache and persistent idiopathic facial pain. (orig.)

Hennekam lymphangiectasia syndrome

Science.gov (United States)

Lakshminarayana, G.; Mathew, A.; Rajesh, R.; Kurien, G.; Unni, V. N.

2011-01-01

Hennekam lymphangiectasia syndrome is a rare disorder comprising of intestinal and renal lymphangiectasia, dysmorphic facial appearance and mental retardation. The facial features include hypertelorism with a wide, flat nasal bridge, epicanthic folds, small mouth and small ears. We describe a case of a multigravida with bad obstetric history and characteristic facial and dental anomalies and bilateral renal lymphangiectasia. To our knowledge this is the first case of Hennekam lymphangiectasia syndrome with anodontia to be reported from India. PMID:22022089

Cell-assisted lipotransfer for facial lipoatrophy: efficacy of clinical use of adipose-derived stem cells.

Science.gov (United States)

Yoshimura, Kotaro; Sato, Katsujiro; Aoi, Noriyuki; Kurita, Masakazu; Inoue, Keita; Suga, Hirotaka; Eto, Hitomi; Kato, Harunosuke; Hirohi, Toshitsugu; Harii, Kiyonori

2008-09-01

Lipoinjection is a promising treatment, but its efficacy in recontouring facial lipoatrophy remains to be established. The objective was to evaluate the efficacy and adverse effects of lipoinjection and supplementation of adipose-derived stem/stromal cells (ASCs) to adipose grafts. To overcome drawbacks of autologous lipoinjection, we have developed a novel strategy called cell-assisted lipotransfer (CAL). In CAL, stromal vascular fraction containing ASCs was freshly isolated from half of an aspirated fat sample and attached to the other half of aspirated fat sample with the fat acting as a scaffold. This process converts relatively ASC-poor aspirated fat into ASC-rich fat. We performed conventional lipoinjection (non-CAL; n=3) or CAL (n=3) on six patients with facial lipoatrophy due to lupus profundus or Parry-Romberg syndrome. All patients obtained improvement in facial contour, but the CAL group had a better clinical improvement score than did the non-CAL patients, although the difference did not reach statistical significance (p=.11). Adipose necrosis was found in one non-CAL case who took perioperative oral corticosteroids. Our results suggest that CAL is both effective and safe and potentially superior to conventional lipoinjection for facial recontouring. The authors have indicated no significant interest with commercial supporters.

A de novo missense mutation of FGFR2 causes facial dysplasia syndrome in Holstein cattle.

Science.gov (United States)

Agerholm, Jørgen S; McEvoy, Fintan J; Heegaard, Steffen; Charlier, Carole; Jagannathan, Vidhya; Drögemüller, Cord

2017-08-02

Surveillance for bovine genetic diseases in Denmark identified a hitherto unreported congenital syndrome occurring among progeny of a Holstein sire used for artificial breeding. A genetic aetiology due to a dominant inheritance with incomplete penetrance or a mosaic germline mutation was suspected as all recorded cases were progeny of the same sire. Detailed investigations were performed to characterize the syndrome and to reveal its cause. Seven malformed calves were submitted examination. All cases shared a common morphology with the most striking lesions being severe facial dysplasia and complete prolapse of the eyes. Consequently the syndrome was named facial dysplasia syndrome (FDS). Furthermore, extensive brain malformations, including microencephaly, hydrocephalus, lobation of the cerebral hemispheres and compression of the brain were present. Subsequent data analysis of progeny of the sire revealed that around 0.5% of his offspring suffered from FDS. High density single nucleotide polymorphism (SNP) genotyping data of the seven cases and their parents were used to map the defect in the bovine genome. Significant genetic linkage was obtained for three regions, including chromosome 26 where whole genome sequencing of a case-parent trio revealed two de novo variants perfectly associated with the disease: an intronic SNP in the DMBT1 gene and a single non-synonymous variant in the FGFR2 gene. This FGFR2 missense variant (c.927G>T) affects a gene encoding a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and across species. It is predicted to change an evolutionary conserved tryptophan into a cysteine residue (p.Trp309Cys). Both variant alleles were proven to result from de novo mutation events in the germline of the sire. FDS is a novel genetic disorder of Holstein cattle. Mutations in the human FGFR2 gene are associated with various dominant inherited craniofacial dysostosis syndromes. Given

A neurofibromatosis type 2 case with vestibular, trigeminal and facial schwannomas together: magnetic resonance imaging findings

International Nuclear Information System (INIS)

Akay, S.; Hamcan, S.; Kara, K.; Battal, B.; Tasar, M.

2012-01-01

Full text: Introduction: Neurofibromatosis type 2 (NF2) is characterized by the development of multiple nervous system tumors. This disorder is also called multiple inherited schwannomas (MIS), meningiomas (M), and ependymomas (E) (MISME) syndrome. Objectives and tasks: To discuss the magnetic resonance (MR) imaging findings of a NF2 case who has bilateral vestibular and trigeminal schwannomas, unilateral facial schwannoma, multiple meningiomas and cervical intramedullary spinal cord tumors. Materials and methods: A 23-year-old male patient complaining of tinnitus and imbalance for 3 years, came to Neck-Nose-Throat department of our hospital. After the physical examination, the patient was referred to our department for the further work up with MR imaging. Results: Brain MR imaging showed bilateral acoustic schwannoma which reach through the internal acoustic canals. Bilateral symmetric homogeneously enhanced masses were also detected in Meckel's caves. Similarly, one milimetric enhancing lesion was seen at the right facial nerve. Eight meningiomas in various locations were observed, as well. Additionally, two enhancing intramedullary well-defined small foci were detected in the proximal cervical spinal cord. Ependymomas or intraparanchimal schwannomas were primarily suspected. Conclusion: This case includes all the probable intracranial and spinal mass lesions which may be associated with NF2. Enhanced MR is very reliable imaging modality for the detailed evaluation of NF2 patients

A neurofibromatosis type 2 case with vestibular, trigeminal and facial schwannomas together: magnetic resonance imaging findings

Energy Technology Data Exchange (ETDEWEB)

Akay, S; Hamcan, S; Kara, K; Battal, B; Tasar, M

2012-07-01

Full text: Introduction: Neurofibromatosis type 2 (NF2) is characterized by the development of multiple nervous system tumors. This disorder is also called multiple inherited schwannomas (MIS), meningiomas (M), and ependymomas (E) (MISME) syndrome. Objectives and tasks: To discuss the magnetic resonance (MR) imaging findings of a NF2 case who has bilateral vestibular and trigeminal schwannomas, unilateral facial schwannoma, multiple meningiomas and cervical intramedullary spinal cord tumors. Materials and methods: A 23-year-old male patient complaining of tinnitus and imbalance for 3 years, came to Neck-Nose-Throat department of our hospital. After the physical examination, the patient was referred to our department for the further work up with MR imaging. Results: Brain MR imaging showed bilateral acoustic schwannoma which reach through the internal acoustic canals. Bilateral symmetric homogeneously enhanced masses were also detected in Meckel's caves. Similarly, one milimetric enhancing lesion was seen at the right facial nerve. Eight meningiomas in various locations were observed, as well. Additionally, two enhancing intramedullary well-defined small foci were detected in the proximal cervical spinal cord. Ependymomas or intraparanchimal schwannomas were primarily suspected. Conclusion: This case includes all the probable intracranial and spinal mass lesions which may be associated with NF2. Enhanced MR is very reliable imaging modality for the detailed evaluation of NF2 patients.

Effect of Oral Pilocarpine in Treating Severe Dry Eye in Patients With Sjögren Syndrome.

Science.gov (United States)

Kawakita, Tetsuya; Shimmura, Shigeto; Tsubota, Kazuo

2015-01-01

The aim of this study is to evaluate the efficacy and safety of oral pilocarpine in treating severe dry eye unresponsive to conventional conservative treatment in patients with Sjögren syndrome. A prospective study. Oral doses of pilocarpine were administered for at least 3 months to patients with Sjögren syndrome complicated by established dry eye of great severity unresponsive to conventional conservative treatment. Subjective eye symptoms (dry eye sensation and eye pain), fluorescein staining scores, rose Bengal staining scores, and tear film breakup time measurements improved significantly after 1 month and 3 months of oral treatment with pilocarpine, whereas no significant improvement was noted in Schirmer I testing. Oral administration of pilocarpine was useful in treating severe dry eye unresponsive to conventional conservative treatment in patients with Sjögren syndrome from the standpoint of efficacy and safety. Thus, we conclude that oral pilocarpine is effective as a new option in treating severe dry eye.

West syndrome in a patient with Schinzel-Giedion syndrome.

Science.gov (United States)

Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

2015-06-01

Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed. © The Author(s) 2014.

Current Treatment Options in Challenging Oral Diseases: Burning Mouth Syndrome

OpenAIRE

Bilgen Erdoğan; Murat Yılmaz

2012-01-01

Burning mouth syndrome is a chronic condition characterized by burning pain without any signs of an oral mucosal pathology, that usually affects postmenopausal women. Burning sensation is often accompanied by dysgeusia and xerostomia. The pathogenesis of the disease is unknown and an effective treatment option for most of the patients has not been defined yet. The aim of this review is to present current pharmacological and physicological treatments of burning mouth syndrome.

Current Treatment Options in Challenging Oral Diseases: Burning Mouth Syndrome

Directory of Open Access Journals (Sweden)

Bilgen Erdoğan

2012-12-01

Full Text Available Burning mouth syndrome is a chronic condition characterized by burning pain without any signs of an oral mucosal pathology, that usually affects postmenopausal women. Burning sensation is often accompanied by dysgeusia and xerostomia. The pathogenesis of the disease is unknown and an effective treatment option for most of the patients has not been defined yet. The aim of this review is to present current pharmacological and physicological treatments of burning mouth syndrome.

AETIOLOGY OF ACQUIRED LOWER MOTOR NEURON TYPE OF FACIAL NERVE PARALYSIS– A DESCRIPTIVE STUDY

Directory of Open Access Journals (Sweden)

Arya Devi Karangat

2018-02-01

Full Text Available BACKGROUND This study was conducted to evaluate the various aetiologies of acquired lower motor neuron type of facial nerve paralysis, assessment of severity of lesion and outcome through follow up. 47 patients between 15-75 years were studied. MATERIALS AND METHODS All patients with acquired LMN facial paralysis who presented to our department were included in the study. They were evaluated with history, clinical examination and investigations. They were treated and followed up for a period of 6 months. RESULTS The most common aetiology identified for facial palsy was trauma which was non-iatrogenic. The anatomic level which predominated in our patients was infrastapedial. Maximum number of patients presented with grade 4 facial palsy. CONCLUSION Non- iatrogenic trauma was the most common cause among the patients studied and follow up of these patients had a good recovery of 60%.

Facial Fractures.

Science.gov (United States)

Ghosh, Rajarshi; Gopalkrishnan, Kulandaswamy

2018-06-01

The aim of this study is to retrospectively analyze the incidence of facial fractures along with age, gender predilection, etiology, commonest site, associated dental injuries, and any complications of patients operated in Craniofacial Unit of SDM College of Dental Sciences and Hospital. This retrospective study was conducted at the Department of OMFS, SDM College of Dental Sciences, Dharwad from January 2003 to December 2013. Data were recorded for the cause of injury, age and gender distribution, frequency and type of injury, localization and frequency of soft tissue injuries, dentoalveolar trauma, facial bone fractures, complications, concomitant injuries, and different treatment protocols.All the data were analyzed using statistical analysis that is chi-squared test. A total of 1146 patients reported at our unit with facial fractures during these 10 years. Males accounted for a higher frequency of facial fractures (88.8%). Mandible was the commonest bone to be fractured among all the facial bones (71.2%). Maxillary central incisors were the most common teeth to be injured (33.8%) and avulsion was the most common type of injury (44.6%). Commonest postoperative complication was plate infection (11%) leading to plate removal. Other injuries associated with facial fractures were rib fractures, head injuries, upper and lower limb fractures, etc., among these rib fractures were seen most frequently (21.6%). This study was performed to compare the different etiologic factors leading to diverse facial fracture patterns. By statistical analysis of this record the authors come to know about the relationship of facial fractures with gender, age, associated comorbidities, etc.

Morphometric analysis of three normal facial types in mixed dentition using posteroanterior cephalometric radiographs: preliminary results

Directory of Open Access Journals (Sweden)

Renato Bigliazzi

2017-08-01

Full Text Available The aim of the present investigation was to evaluate the craniofacial features of subjects with normal occlusion with different vertical patterns in the mixed dentition using morphometric analysis (Thin-Plate Spline analysis - TPS applied to posteroanterior (PA films. The sample comprised 39 individuals (18 females and 21 males, all in mixed dentition, aged from 8.4 to 10 years with satisfactory occlusion and balanced profile and with no history of orthodontic or facial orthopedic treatment. The sample was divided into three groups (mesofacial, brachyfacial and dolichofacial according to the facial types proposed by Ricketts (1989. The average craniofacial configurations of each study group were obtained by orthogonal superimposition of Procrustes, thereby eliminating size differences and allowing only shape differences between groups to be analyzed by viewing the TPS deformation grid. Significant differences were found among the three facial types but were more remarkable between mesofacials and dolichofacials than between mesofacials and brachyfacials. TPS morphometric analysis proved efficient for accurate visualization of transverse and vertical differences among facial types even before pubertal growth spurt. These differences cannot be easily detected by traditional posteroanterior cephalometry.

A novel method to measure conspicuous facial pores using computer analysis of digital-camera-captured images: the effect of glycolic acid chemical peeling.

Science.gov (United States)

Kakudo, Natsuko; Kushida, Satoshi; Tanaka, Nobuko; Minakata, Tatsuya; Suzuki, Kenji; Kusumoto, Kenji

2011-11-01

Chemical peeling is becoming increasingly popular for skin rejuvenation in dermatological esthetic surgery. Conspicuous facial pores are one of the most frequently encountered skin problems in women of all ages. This study was performed to analyze the effectiveness of reducing conspicuous facial pores using glycolic acid chemical peeling (GACP) based on a novel computer analysis of digital-camera-captured images. GACP was performed a total of five times at 2-week intervals in 22 healthy women. Computerized image analysis of conspicuous, open, and darkened facial pores was performed using the Robo Skin Analyzer CS 50. The number of conspicuous facial pores decreased significantly in 19 (86%) of the 22 subjects, with a mean improvement rate of 34.6%. The number of open pores decreased significantly in 16 (72%) of the subjects, with a mean improvement rate of 11.0%. The number of darkened pores decreased significantly in 18 (81%) of the subjects, with a mean improvement rate of 34.3%. GACP significantly reduces the number of conspicuous facial pores. The Robo Skin Analyzer CS 50 is useful for the quantification and analysis of 'pore enlargement', a subtle finding in dermatological esthetic surgery. © 2011 John Wiley & Sons A/S.

Delayed-onset complications of facial soft tissue augmentation with permanent fillers in 85 patients.

Science.gov (United States)

Kadouch, Jonathan A; Kadouch, Daniel J; Fortuin, Shai; van Rozelaar, Leo; Karim, Refaat B; Hoekzema, Rick

2013-10-01

To evaluate factors influencing the onset and type of adverse events in patients injected with permanent fillers in the face and to propose a therapeutic strategy for these complications. A prospectively attained series of 85 patients with delayed-onset complications after facial injection with permanent fillers underwent clinical follow-up and treatment of the complications. Lag times until onset and type of delayed-onset complication varied according to filler material. In 28% (n = 24) of the cases, patients reported the onset of complications after dental procedures, additional injections with fillers, or other invasive treatments in the facial area. Forty-eight (57%) patients required invasive treatment. Abscess formation was significantly more frequent in patients with human immunodeficiency virus infection and facial lipoatrophy (p = .001). The intrinsic characteristics of the injected filler and the immune status of the patient play important roles in the diversity of time of onset and type of delayed-onset adverse events observed. It seems that invasive facial or oral procedures in the vicinity of filler depots can provoke such complications. We propose a strategy for treating these complications and advise great caution when using permanent filling agents. © 2013 by the American Society for Dermatologic Surgery, Inc. Published by Wiley Periodicals, Inc.

Numb chin syndrome as a manifestation of possible breast cancer metastasis around dental implants.

Science.gov (United States)

Orhan, Kaan; Bayndr, Hakan; Aksoy, Seçil; Seker, Basak Kusakci; Berberoğlu, Atilla; Ozan, Oğuz

2011-05-01

Numb chin syndrome, sometimes called numb lip syndrome, is an uncommon but well-recognized symptom in medical oncology. It may be a metastatic neurologic manifestation of malignancy, often with no clinically visible pathologic finding. The authors report a numb chin syndrome as a manifestation possible breast cancer metastasis around dental implants in a 69-year-old woman. The patient was presented with complaint of numbness in the lower jaw. Medical anamnesis revealed a metastatic breast carcinoma (CA). Radiographic imaging with conventional panoramic radiography and cone beam computed tomographic examination, revealed a moth-eaten shape, radiolucent, and radiopaque mixed appearance around the dental implants that was related with possible metastasis of the breast cancer. Numb chin syndrome is almost unknown within the dental and oral and maxillofacial community, despite being well reported in the medical literature. General dentists, oral medicine specialists, and oral and maxillofacial surgeons must be aware of this condition to consider metastatic cancer in patients with unexplained facial hypoesthesia. Moreover, although the development of metastatic lesions around implants is an uncommon pathologic finding, the examination of peri-implant lesion should be performed carefully considering the entire pathologic situations.

Multi-dimensionality of chronic pain of the oral cavity and face

Science.gov (United States)

2013-01-01

Orofacial pain in its broadest definition can affect up to 7% of the population. Its diagnosis and initial management falls between dentists and doctors and in the secondary care sector among pain physicians, headache neurologists and oral physicians. Chronic facial pain is a long term condition and like all other chronic pain is associated with numerous co-morbidities and treatment outcomes are often related to the presenting co-morbidities such as depression, anxiety, catastrophising and presence of other chronic pain which must be addressed as part of management . The majority of orofacial pain is continuous so a history of episodic pain narrows down the differentials. There are specific oral conditions that rarely present extra orally such as atypical odontalgia and burning mouth syndrome whereas others will present in both areas. Musculoskeletal pain related to the muscles of mastication is very common and may also be associated with disc problems. Trigeminal neuralgia and the rarer glossopharyngeal neuralgia are specific diagnosis with defined care pathways. Other trigeminal neuropathic pain which can be associated with neuropathy is caused most frequently by trauma but secondary causes such as malignancy, infection and auto-immune causes need to be considered. Management is along the lines of other neuropathic pain using accepted pharmacotherapy with psychological support. If no other diagnostic criteria are fulfilled than a diagnosis of chronic or persistent idiopathic facial pain is made and often a combination of antidepressants and cognitive behaviour therapy is effective. Facial pain patients should be managed by a multidisciplinary team. PMID:23617409

Distinguishing Mars from Venus: emergence of gender biology differences in oral health and systemic disease.

Science.gov (United States)

Slavkin, Harold C

2002-10-01

We are learning to appreciate and understand that men and women have different genes and gene products (proteins), biochemistry and physiology, body weights and distribution of fats, and a few different tissues and organs. In such comparisons, we discover that women have a different prevalence for many oral and systemic diseases and disorders, and often illustrate differences in responses to disease mechanisms as well as to drug therapy and treatments. For example, consider the milestones of development, such as puberty or menopause, the unique differences in the prevalence of autoimmune diseases and disorders (Sjögren's syndrome, Hashimoto's disease), differences in the onset and progression of osteoporosis and osteoarthritis, differences in response to radiation and chemotherapy, and the differences in chronic facial pain, chronic fatigue syndrome, and fibromyalgia. This article highlights many opportunities to enhance the quality of oral health care for women.

Oral health and 22q11 deletion syndrome: thoughts and experiences from the parents' perspectives.

Science.gov (United States)

Klingberg, Gunilla; Hallberg, Ulrika; Oskarsdóttir, Sólveig

2010-07-01

22q11 deletion syndrome (22q11DS) is one of the most common multiple anomaly syndromes, and many dentists are likely to meet patients with the syndrome. Odontological research has focused on describing and analysing conditions/concepts based on the current state of knowledge within the dental profession. Yet, these research topics are not necessarily the most important issues for the patients. To explore and describe, by use of Grounded theory, parents' experiences of oral health issues and needs for dental care in their children with 22q11DS. Twelve parents from different regions in Sweden were interviewed. Analyses were carried out according to Grounded theory. Parents recognised good oral health as important for the wellbeing of their children. Oral health was a concern and the parents described the fight for this as struggling in vain for good oral health in their child. Parents not only described their children's oral health as important but also hard to gain. Thus, it is important that all patients with disabilities, regardless of whether there is a defined medical diagnosis or not, are identified and well taken care of in the dental care system.

Facial markers in second- and third-trimester fetuses with trisomy 18 or 13, triploidy or Turner syndrome.

Science.gov (United States)

Kagan, K O; Sonek, J; Berg, X; Berg, C; Mallmann, M; Abele, H; Hoopmann, M; Geipel, A

2015-07-01

To examine the effectiveness of nasal bone (NB) evaluation (including NB length (NBL)), prenasal thickness (PT) measurement, the PT:NBL ratio and the prefrontal space ratio (PFSR) in the identification of fetuses with trisomy 18 or 13, triploidy or Turner syndrome. This was a retrospective study using stored midsagittal two-dimensional images of the facial profile of fetuses with trisomy 18 or 13, triploidy or Turner syndrome in the second and third trimesters. For images of acceptable quality, measurements were obtained of NBL (where NB was present), PT, the PT:NBL ratio and PFSR, and these measurements were compared with previously published normal ranges. The search of databases identified 189 fetuses that met the study criteria: 132 (69.8%) with trisomy 18, 40 (21.2%) with trisomy 13, 10 (5.3%) with triploidy and seven (3.7%) with Turner syndrome. The NB was either absent or its measurement was below the 5(th) centile in 67 (50.8%), 20 (50.0%), five (50.0%) and two (28.6%) of the fetuses with trisomy 18, trisomy 13, triploidy and Turner syndrome, respectively. The PT measurement was above the 95(th) centile in 24 (18.2%), six (15.0%), one (10.0%) and one (14.3%) of the affected fetuses, respectively. The PFSR was abnormal in 72 (54.5%), 29 (72.5%), seven (70%) and four (57.1%) of the cases and the PT:NBL ratio was above the 95(th) centile or the nasal bone was absent in 72 (54.5%), 20 (50.0%), six (60.0%) and four (57.1%) cases, respectively. Although each of the facial markers considered provides some useful information in screening for trisomy 18, trisomy 13, triploidy and Turner syndrome, the performance of none of the markers appears to be as good as that in screening for trisomy 21. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

Oral Nodular Lesions in Patients with Sjögren's Syndrome: Unusual Oral Implications of a Systemic Disorder.

Science.gov (United States)

Pinheiro, Juliana Barchelli; Tirapelli, Camila; Silva, Claudia Helena Lovato da; Komesu, Marilena Chinali; Petean, Flávio Calil; Louzada Junior, Paulo; León, Jorge Esquiche; Motta, Ana Carolina Fragoso

2017-01-01

Sjögren's syndrome (SS) is a systemic chronic autoimmune disorder affecting the lacrimal and salivary glands. SS may manifest as primary SS (pSS) or secondary SS (sSS), the latter occurring in the context of another autoimmune disorder. In both cases, the dry eyes and mouth affect the patient's quality of life. Late complications may include blindness, dental tissue destruction, oral candidiasis and lymphoma. This paper reports two cases of SS, each of them presenting unusual oral nodular lesion diagnosed as relapsed MALT lymphoma and mucocele. The importance of the diagnosis, treatment and management of the oral lesions by a dentist during the care of SS patients is emphasized, as the oral manifestations of SS may compromise the patient's quality of life.

High precision automated face localization in thermal images: oral cancer dataset as test case

Science.gov (United States)

Chakraborty, M.; Raman, S. K.; Mukhopadhyay, S.; Patsa, S.; Anjum, N.; Ray, J. G.

2017-02-01

Automated face detection is the pivotal step in computer vision aided facial medical diagnosis and biometrics. This paper presents an automatic, subject adaptive framework for accurate face detection in the long infrared spectrum on our database for oral cancer detection consisting of malignant, precancerous and normal subjects of varied age group. Previous works on oral cancer detection using Digital Infrared Thermal Imaging(DITI) reveals that patients and normal subjects differ significantly in their facial thermal distribution. Therefore, it is a challenging task to formulate a completely adaptive framework to veraciously localize face from such a subject specific modality. Our model consists of first extracting the most probable facial regions by minimum error thresholding followed by ingenious adaptive methods to leverage the horizontal and vertical projections of the segmented thermal image. Additionally, the model incorporates our domain knowledge of exploiting temperature difference between strategic locations of the face. To our best knowledge, this is the pioneering work on detecting faces in thermal facial images comprising both patients and normal subjects. Previous works on face detection have not specifically targeted automated medical diagnosis; face bounding box returned by those algorithms are thus loose and not apt for further medical automation. Our algorithm significantly outperforms contemporary face detection algorithms in terms of commonly used metrics for evaluating face detection accuracy. Since our method has been tested on challenging dataset consisting of both patients and normal subjects of diverse age groups, it can be seamlessly adapted in any DITI guided facial healthcare or biometric applications.

POLYDACTYLY IN P FEIFFER SYNDROME II - OMIM #10160 0 A RARE ASSOCIATION

Directory of Open Access Journals (Sweden)

Deepa

2015-03-01

Full Text Available Pfeiffer syndrome (PS is a rare autosomal dominantly inherited disorder occurring in approximately 1:100,000 live births. Mutations of the fibroblast growth factor receptor 1(FGFR1 or FGFR2 gene can cause Pfeiffer syndrome. Craniosynostosis, brachycephaly, mid - facial hypoplasia, broad deviated thumbs and great toes c haracterize the syndrome. Pfeiffer syndrome depending on severity of the phenotype is of three types. The types 2 and 3 occur as sporadic cases and have poor prognosis. We report a case of Pfeiffer Syndrome type 2 having polydactyly, which to the best of o ur knowledge is first case of such an association

Alcohol percutaneous neurolysis of the sphenopalatine ganglion in the management of refractory cranio-facial pain

Energy Technology Data Exchange (ETDEWEB)

Kastler, Adrian [Grenoble University Hospital, Neuroradiology Department, Grenoble (France); Franche Comte University, I4S Laboratory, EA4268, IFR133, Besancon (France); Cadel, Gilles; Gory, Guillaume [Franche Comte University, I4S Laboratory, EA4268, IFR133, Besancon (France); Comte, Alexandre [University Hospital Besancon, Functional Imaging Research Department, Besancon (France); Piccand, Veronique [University Hospital Jean Minjoz, Pain Evaluation and Treatment Unit, Besancon (France); Tavernier, Laurent [Franche Comte University, I4S Laboratory, EA4268, IFR133, Besancon (France); University Hospital Jean Minjoz, Head and Neck Surgery-Otolaryngology Unit, Besancon (France); Kastler, Bruno [Franche Comte University, I4S Laboratory, EA4268, IFR133, Besancon (France); University Hospital Jean Minjoz, Interventional Pain Management Unit, Besancon (France)

2014-07-15

The sphenopalatine ganglion (SPN) has been proven to be involved in various types of facial pain syndromes. Management of these cranio-facial pain syndromes can be challenging, and existing specific treatments are sometimes inefficient and may fail. The purpose of this study is to describe and evaluate alcohol SPN in the management of cranio-facial pain. Forty-two patients suffering from refractory facial pain who underwent 58 consecutive SPN were included in this study between 2000 and 2013. Patients were divided into three groups: group ''cluster headache'' (CH), group ''persistent idiopathic facial pain'' (PFIP), and group ''Other''. Pain was assessed using Visual Analogue Scale scores (measured immediately before and after procedure and at regular intervals following the procedure). Alcohol SPN was considered to be effective when pain relief was equal to or greater than 50 % and lasting for at least 1 month. All procedures were realized ambulatory under CT guidance and consisted of an injection of 1 ml of absolute alcohol. Overall efficacy rate of alcohol SPN was 67.2 %, with mean pain relief duration of 10.3 months. Procedure was graded either not painful or tolerable by patients in 64.2 %. Analysis showed a higher efficacy rate in the groups CH (76.5 %) and PFIP (85.7 %) compared to the group Other (40 %). No difference was found between groups regarding the recurrence rate. Alcohol SPN under CT guidance appears as a safe and effective treatment of refractory facial pain, especially in cases of cluster headache and persistent idiopathic facial pain. (orig.)

Application of intra-oral dental scanners in the digital workflow of implantology.

Directory of Open Access Journals (Sweden)

Wicher J van der Meer

Full Text Available Intra-oral scanners will play a central role in digital dentistry in the near future. In this study the accuracy of three intra-oral scanners was compared.A master model made of stone was fitted with three high precision manufactured PEEK cylinders and scanned with three intra-oral scanners: the CEREC (Sirona, the iTero (Cadent and the Lava COS (3M. In software the digital files were imported and the distance between the centres of the cylinders and the angulation between the cylinders was assessed. These values were compared to the measurements made on a high accuracy 3D scan of the master model.The distance errors were the smallest and most consistent for the Lava COS. The distance errors for the Cerec were the largest and least consistent. All the angulation errors were small.The Lava COS in combination with a high accuracy scanning protocol resulted in the smallest and most consistent errors of all three scanners tested when considering mean distance errors in full arch impressions both in absolute values and in consistency for both measured distances. For the mean angulation errors, the Lava COS had the smallest errors between cylinders 1-2 and the largest errors between cylinders 1-3, although the absolute difference with the smallest mean value (iTero was very small (0,0529°. An expected increase in distance and/or angular errors over the length of the arch due to an accumulation of registration errors of the patched 3D surfaces could be observed in this study design, but the effects were statistically not significant.For making impressions of implant cases for digital workflows, the most accurate scanner with the scanning protocol that will ensure the most accurate digital impression should be used. In our study model that was the Lava COS with the high accuracy scanning protocol.

Epidemiologic Overview of Synkinesis in 353 Patients with Longstanding Facial Paralysis under Treatment with Botulinum Toxin for 11 Years.

Science.gov (United States)

Salles, Alessandra Grassi; da Costa, Eduardo Fernandes; Ferreira, Marcus Castro; Remigio, Adelina Fatima do Nascimento; Moraes, Luciana Borsoi; Gemperli, Rolf

2015-12-01

Patients with longstanding facial paralysis often exhibit synkinesis. Few reports describe the prevalence and factors related to the development of synkinesis after facial paralysis. Botulinum toxin type A injection is an important adjunct treatment for facial paralysis-induced asymmetry and synkinesis. The authors assessed the clinical and epidemiologic characteristics of patients with sequelae of facial paralysis treated with botulinum toxin type A injections to evaluate the prevalence of synkinesis and related factors. A total of 353 patients (age, 4 to 84 years; 245 female patients) with longstanding facial paralysis underwent 2312 botulinum toxin type A injections during an 11-year follow-up. Doses used over the years, previous treatments (electrical stimulation, operations), and how they correlated to postparalysis and postreanimation synkinesis were analyzed. There was a significant association between cause and surgery. Most patients with facial paralysis caused by a congenital defect, trauma, or a tumor underwent reanimation. There were no sex- or synkinesis-related differences in the doses used, but the doses were higher in the reanimation group than in the no-surgery group. Synkinesis was found in 196 patients; 148 (41.9 percent) presented with postparalysis synkinesis (oro-ocular, oculo-oral) and 58 (16.4 percent) presented with postreanimation synkinesis. Ten patients presented with both types. This study determined the high prevalence (55.5 percent) of synkinesis in patients with longstanding facial paralysis. Postparalysis synkinesis was positively associated with infectious and idiopathic causes, electrical stimulation, facial nerve decompression, and no requirement for surgery. Postreanimation synkinesis was present in 28.2 percent of reanimated patients and was significantly associated with microsurgical flaps, transfacial nerve grafting, masseteric-facial anastomosis, and temporalis muscle transfers.

Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I.

Science.gov (United States)

Kujat, Annegret; Veith, Veit-Peter; Faber, Renaldo; Froster, Ursula G

2007-01-01

Waardenburg syndrome type I (WS I) is an autosomal dominant inherited disorder with an incidence of 1:45,000 in Europe. Mutations within the PAX3 gene are responsible for the clinical phenotype ranging from mild facial features to severe malformations detectable in prenatal diagnosis. Here, we report a four-generation family with several affected members showing various symptoms of WS I. We diagnosed the syndrome first in a pregnant young woman; she was referred because of a spina bifida in prenatal diagnosis. We performed clinical genetic investigations and molecular genetic analysis in all available family members. The phenotype displays a wide intra-familial clinical variability of pigmentary disturbances, facial anomalies and developmental defects. Molecular studies identified a novel splice site mutation within the PAX3 gene in intron 5 in all affected family members, but in none of the unaffected relatives. This case demonstrates the prenatal diagnosis of spina bifida in a fetus which leads to the initial diagnosis of WS I. Further studies could identify a private splice site mutation within the PAX3 gene responsible for the phenotype in this family.

A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.

Science.gov (United States)

Vinkler, Chana; Leshinsky-Silver, Esther; Michelson, Marina; Haas, Dorothea; Lerman-Sagie, Tally; Lev, Dorit

2014-01-01

Genetic syndromes with proportionate severe short stature are rare. We describe two sisters born to nonconsanguineous parents with severe linear growth retardation, poor weight gain, microcephaly, characteristic facial features, cutaneous syndactyly of the toes, high myopia, and severe intellectual disability. During infancy and early childhood, the girls had transient hepatosplenomegaly and low blood cholesterol levels that normalized later. A thorough evaluation including metabolic studies, radiological, and genetic investigations were all normal. Cholesterol metabolism and transport were studied and no definitive abnormality was found. No clinical deterioration was observed and no metabolic crises were reported. After due consideration of other known hereditary causes of post-natal severe linear growth retardation, microcephaly, and intellectual disability, we propose that this condition represents a newly recognized autosomal recessive multiple congenital anomaly-intellectual disability syndrome. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

[Bilateral "crocodile tears syndrome" associated with Melkersson-Rosenthal syndrome--case report].

Science.gov (United States)

Owecki, Michał K; Kapelusiak-Pielok, Magdalena; Kowal, Piotr; Kozubski, Wojciech

2006-01-01

We present a rare case of bilateral crocodile tears syndrome (CTS) in the course of Melkersson-Rosenthal syndrome. Melkersson-Rosenthal syndrome is characterised by a triad of recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue. The classic triad is infrequent and oligosymptomatic variants are seen more frequently. CTS is a rare complication of facial nerve paralysis characterised by inappropriate lacrimation on the side of the palsy in response to salivary stimuli. It results from aberrant reinnervation of the lacrimal gland by salivary parasympathetic fibres. The therapeutic approach for an acute bout of Melkersson-Rosenthal syndrome consists mainly of steroid administration. CTS management is composed of anticholinergic drugs and surgical procedures. Botulin toxin injection into the lacrimal gland is the most modern therapeutic option. In the case presented CTS developed in a 50-year-old man after 5 incidents of facial palsy due to Melkersson-Rosenthal syndrome. The case deserves attention due to the rarity of the observed symptoms and signs.

MRI enhancement of the facial nerve with Gd-DTPA, 2; Investigation of enhanced nerve portions in patients with facial palsy

Energy Technology Data Exchange (ETDEWEB)

Yanagida, Masahiro [Kansai Medical School, Moriguchi, Osaka (Japan)

1993-08-01

We performed enhanced MRI using Gd-DTPA in 84 patients with facial palsy. After assessing enhancement of the normal facial nerve, we examined enhancement in patients with Bell's palsy and Ramsay Hunt syndrome. In 95% of patients with Bell's palsy, enhancement was obtained in the distal IAC and labyrinthine portions. In 72%, enhancement was significant from the distal IAC portion through the vertical portion. In some of the patients who underwent enhanced MRI twice, increased signal intensity was observed in distal portions such as the vertical portion. In many cases of Ramsay Hunt syndrome, enhancement was seen extensively in the IAC portion through the vertical portion. In the subjects with internal auditory symptoms such as vertigo and tinnitus, enhancement of the IAC portion was seen not only in the facial nerve but also in the vestibular and the cochlear nerves. These results suggest that the vascular permeability of lesions in Bell's palsy may be increased from the distal IAC portion to the vertical portion. Judging from the present findings with Ramsay Hunt syndrome, symptoms related to the enhanced portions suggest that accompanying internal auditory symptoms occur due to inflammation of the IAC portions of cochlear and vestibular nerves. (author).

A Report of Two Cases of Solid Facial Edema in Acne

OpenAIRE

Kuhn-R?gnier, Sarah; Mangana, Joanna; Kerl, Katrin; Kamarachev, Jivko; French, Lars E.; Cozzio, Antonio; Navarini, Alexander A.

2017-01-01

Introduction Solid facial edema (SFE) is a rare complication of acne vulgaris. To examine the clinical features of acne patients with solid facial edema, and to give an overview on the outcome of previous topical and systemic treatments in the cases so far published. Methods We report two cases from Switzerland, both young men with initially papulopustular acne resistant to topical retinoids. Results Both cases responded to oral isotretinoin, in one case combined with oral steroids. Our cases...

Prognosis and MRI findings in patients with peripheral facial palsy

International Nuclear Information System (INIS)

Mineta, Masayuki; Saitoh, Yasuhiro; Yoshikawa, Daihei; Yamada, Tomonori; Aburano, Tamio; Matoba, Mitsuaki.

1997-01-01

We examined a series of 21 peripheral facial palsy patients attempted to ( 17 Bell's palsy, 4 Hunt syndrome) with Gd-DTPA-enhanced MRI and attempted to determine the relation between prognosis and MRI findings. We divided patients into two groups based on facial palsy scores of Japanese facial nerve research; a good group (G-Group) and a bad group (B-group). The G-group scored over 20 points on the 20th day after the first visit and the B-group under 20 points. G-group consisted of 9 Bell's palsy and 1 Hunt syndrome patients, and the B-group of 8 Bell's palsy and 3 Hunt syndrome patients. The averaged facial palsy score of both groups was analyzed every week during 4 weeks. Recovery from the palsy was better in the G-group than the B-group (P<0.05); the scores at the 4th week of the G- and B-groups were 32.6±15.2 and 7.8±7.4, respectively. The MRI findings of both groups were examined retrospectively. Nine of 10 G-group and nine of 11 B-group patients had abnormal contrast enhancement. The result of enhanced facial nerve segment was as follows: G-group, auditory canal 1, labyrinthine/geniculate 7, tympanic 7, mastoid 7: B-group, auditory canal 2, labyrinthine/geniculate 8, tympanic 8, mastoid 7. Our results indicate no relation between the prognosis and the MRI findings. Therefore, it is impossible to predict the prognosis of facial palsy from the results of Gd-DTPA-enhanced MRI. (author)

Prognosis and MRI findings in patients with peripheral facial palsy

Energy Technology Data Exchange (ETDEWEB)

Mineta, Masayuki; Saitoh, Yasuhiro; Yoshikawa, Daihei; Yamada, Tomonori; Aburano, Tamio [Asahikawa Medical College, Hokkaido (Japan); Matoba, Mitsuaki

1997-02-01

We examined a series of 21 peripheral facial palsy patients attempted to ( 17 Bell`s palsy, 4 Hunt syndrome) with Gd-DTPA-enhanced MRI and attempted to determine the relation between prognosis and MRI findings. We divided patients into two groups based on facial palsy scores of Japanese facial nerve research; a good group (G-Group) and a bad group (B-group). The G-group scored over 20 points on the 20th day after the first visit and the B-group under 20 points. G-group consisted of 9 Bell`s palsy and 1 Hunt syndrome patients, and the B-group of 8 Bell`s palsy and 3 Hunt syndrome patients. The averaged facial palsy score of both groups was analyzed every week during 4 weeks. Recovery from the palsy was better in the G-group than the B-group (P<0.05); the scores at the 4th week of the G- and B-groups were 32.6{+-}15.2 and 7.8{+-}7.4, respectively. The MRI findings of both groups were examined retrospectively. Nine of 10 G-group and nine of 11 B-group patients had abnormal contrast enhancement. The result of enhanced facial nerve segment was as follows: G-group, auditory canal 1, labyrinthine/geniculate 7, tympanic 7, mastoid 7: B-group, auditory canal 2, labyrinthine/geniculate 8, tympanic 8, mastoid 7. Our results indicate no relation between the prognosis and the MRI findings. Therefore, it is impossible to predict the prognosis of facial palsy from the results of Gd-DTPA-enhanced MRI. (author)

[Burning mouth syndrome - a joint biopsychosocial approach].

Science.gov (United States)

Arpone, Francesca; Combremont, Florian; Weber, Kerstin; Scolozzi, Paolo

2016-02-10

Burning mouth syndrome (BMS) is a medical condition that is often refractory to conventional diagnostic and therapeutic methods. Patients suffering from BMS can benefit from a biopsychosocial approach in a joint, medical-psychological consultation model. Such a consultation exists at Geneva University Hospitals, involving the collaboration of the maxillo-facial and oral surgery division and the division of liaison psychiatry and crisis intervention, in order to take into account the multiple factors involved in BMS onset and persistence. This article will describe BMS clinical presentation, and present an integrate approach to treat these patients.

Oral manifestations and prosthetic rehabilitation in hereditary sensory and autonomic neuropathy (HSAN)type IV: a case report.

Science.gov (United States)

Ofluoglu, Duygu; Altin, Nazli; Yaman, Elif; Tuna İnce, Elif Bahar; Aytepe, Zeynep; Tanyeri, Hakki

2016-01-01

Hereditary sensory and autonomic neuropathies (HSAN) are rare genetic syndromes of unknown etiology. They are seen in early childhood and are categorized into six different types by their symptoms. HSAN type 4 demonstrates autosomal recessive transmission pattern, with such major characteristics as loss of sense of pain, self-mutilation, anhydrosis and mental retardation. Sympathetic innervations are deficient despite the existence of sweat glands. Sufferers are hypotonic without any tendon reflexes, and neuro-motor development is retarded. In some cases tactile sensation and vibration may be intact. Biting injuries due to lack of pain sensation cause laceration, ulceration and scarring of the tongue, lips and other parts of oral mucosa. Tooth luxation and severe dental attrition have been observed. This case report presents oral and dental findings, surgical treatments and prosthetic rehabilitation of an 11- year-old boy with HSAN type 4.

Lateral facial profile may reveal the risk for sleep disordered breathing in children--the PANIC-study.

Science.gov (United States)

Ikävalko, Tiina; Närhi, Matti; Lakka, Timo; Myllykangas, Riitta; Tuomilehto, Henri; Vierola, Anu; Pahkala, Riitta

2015-01-01

To evaluate the lateral view photography of the face as a tool for assessing morphological properties (i.e. facial convexity) as a risk factor for sleep disordered breathing (SDB) in children and to test how reliably oral health and non-oral healthcare professionals can visually discern the lateral profile of the face from the photographs. The present study sample consisted of 382 children 6-8 years of age who were participants in the Physical Activity and Nutrition in Children (PANIC) Study. Sleep was assessed by a sleep questionnaire administered by the parents. SDB was defined as apnoeas, frequent or loud snoring or nocturnal mouth breathing observed by the parents. The facial convexity was assessed with three different methods. First, it was clinically evaluated by the reference orthodontist (T.I.). Second, lateral view photographs were taken to visually sub-divide the facial profile into convex, normal or concave. The photos were examined by a reference orthodontist and seven different healthcare professionals who work with children and also by a dental student. The inter- and intra-examiner consistencies were calculated by Kappa statistics. Three soft tissue landmarks of the facial profile, soft tissue Glabella (G`), Subnasale (Sn) and soft tissue Pogonion (Pg`) were digitally identified to analyze convexity of the face and the intra-examiner reproducibility of the reference orthodontist was determined by calculating intra-class correlation coefficients (ICCs). The third way to express the convexity of the face was to calculate the angle of facial convexity (G`-Sn-Pg`) and to group it into quintiles. For analysis the lowest quintile (≤164.2°) was set to represent the most convex facial profile. The prevalence of the SDB in children with the most convex profiles expressed with the lowest quintile of the angle G`-Sn-Pg` (≤164.2°) was almost 2-fold (14.5%) compared to those with normal profile (8.1%) (p = 0.084). The inter-examiner Kappa values between the

Living with Moebius syndrome: adjustment, social competence, and satisfaction with life.

Science.gov (United States)

Bogart, Kathleen Rives; Matsumoto, David

2010-03-01

Moebius syndrome is a rare congenital condition that results in bilateral facial paralysis. Several studies have reported social interaction and adjustment problems in people with Moebius syndrome and other facial movement disorders, presumably resulting from lack of facial expression. To determine whether adults with Moebius syndrome experience increased anxiety and depression and/or decreased social competence and satisfaction with life compared with people without facial movement disorders. Internet-based quasi-experimental study with comparison group. Thirty-seven adults with Moebius syndrome recruited through the United States-based Moebius Syndrome Foundation newsletter and Web site and 37 age- and gender-matched control participants recruited through a university participant database. Anxiety and depression, social competence, satisfaction with life, ability to express emotion facially, and questions about Moebius syndrome symptoms. People with Moebius syndrome reported significantly lower social competence than the matched control group and normative data but did not differ significantly from the control group or norms in anxiety, depression, or satisfaction with life. In people with Moebius syndrome, degree of facial expression impairment was not significantly related to the adjustment variables. Many people with Moebius syndrome are better adjusted than previous research suggests, despite their difficulties with social interaction. To enhance interaction, people with Moebius syndrome could compensate for the lack of facial expression with alternative expressive channels.

Efficacy And Non Invasive Treatment Of Sialorrhea In The Goldenhar Syndrome.

Science.gov (United States)

Marvulli, R; Gallo, G A; Mastromauro, L; Fiore, P; Ianieri, G; Megna, M

2018-03-28

Goldenhar syndrome (ocular-auricular-vertebral syndrome), a rare congenital condition arising from defects in the first and second brachial arches, consists in clinical variety of features ranging from facial abnormalities, ear-eye abnormalities, vertebral defects and congenital heart problems and severe obstructive sleep apnea. Due to craniofacial abnormalities, patients presents mechanical obstructive phenomena and sialorrhea that cause prone position, language's fastening, use of nasopharyngeal cannulas and tracheal intubation. In this article, we report a case of a 16 years old child affected by Goldenhar syndrome and sialorrhea to demonstrate improvement of the daily patient management, through inoculations of botulinum toxin type A. Due to severe sialorrhea which caused tracheobronchial daily aspirations, caregivers used an external aspirators. In the first infiltration (August 2016) the parotid and submandibular glands bilaterally were inoculated with incobotulinum toxin type A (Xeomin®, Merz Pharma) with dosages of 5 UI for each of them, for a total of 20 UI without clinical efficacy (no quantitative and qualitative saliva reducing during 3 months). In the second (November 2016) and third (February 2017) infiltrations each parotid and each submandibular glands were injected with a (dosage of 7 UI and 5 UI respectively (total of 24 UI of incobotulinumtoxin A) with important clinical results (saliva production and tracheo-bronchial aspirations reduced). So, botulinum toxin type A could be a good and non invasive treatment of sialorrhea in Goldenhar syndrome to improve oral hygiene and daily patient management. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Sex Hormones and Processing of Facial Expressions of Emotion: A Systematic Literature Review

Directory of Open Access Journals (Sweden)

Flávia L. Osório

2018-04-01

Full Text Available Background: We systematically reviewed the literature to determine the influence of sex hormones on facial emotion processing (FEP in healthy women at different phases of life.Methods: Searches were performed in PubMed, Web of Science, PsycINFO, LILACS, and SciELO. Twenty-seven articles were included in the review and allocated into five different categories according to their objectives and sample characteristics (menstrual cycle, oral contraceptives, pregnancy/postpartum, testosterone, and progesterone.Results: Despite the limited number of studies in some categories and the existence of inconsistencies in the results of interest, the findings of the review suggest that FEP may be enhanced during the follicular phase. Studies with women taking oral contraceptives showed reduced recognition accuracy and decreased responsiveness of different brain structures during FEP tasks. Studies with pregnant women and women in the postpartum showed that hormonal changes are associated with alterations in FEP and in brain functioning that could indicate the existence of a hypervigilant state in new and future mothers. Exogenous administration of testosterone enhanced the recognition of threatening facial expressions and the activation of brain structures involved in the processing of emotional stimuli.Conclusions: We conclude that sex hormones affect FEP in women, which may have an impact in adaptive processes of the species and in the onset of mood symptoms associated with the premenstrual syndrome.

DRESS syndrome associated with type 2 diabetes in a child

Science.gov (United States)

Erdem, Semiha Bahceci; Bag, Ozlem; Karkiner, Canan Sule Unsal; Korkmaz, Huseyin Anil; Can, Demet

2016-01-01

Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is an uncommon, life-threatening drug reaction. The basic findings are skin rash, multiorgan involvement, and eosinophilia. Most of the aromatic anticonvulsants, such as phenytoin, phenobarbital and carbamazepine can induce DRESS. Herein we report a 14-year-old patient with DRESS syndrome related to carbamazepine use. The patient presented with signs of involvement of the skin, lungs, liver, and microscopic hematuria. Carbamazepine treatment was discontinued; antihistamines and steroids were started. Hyperglycemia, commencing on the first dose of the steroid given, persisted even after the discontinuation of steroids and improvement of other signs. There were no signs of pancreatitis or type 1 diabetes clinically in laboratory tests. Her blood glucose levels were regulated at first with insulin and later with metformin. Within 1 year of follow-up, still regulated with oral antidiabetics, she has been diagnosed with type 2 diabetes. Formerly, long-term sequelae related to “drug rash with eosinophilia and systemic symptoms syndrome” such as hepatic and renal failure, type 1 diabetes mellitus, Grave's disease, autoimmune hemolytic anemia, and lupus have also been reported. However, up to date, no cases with type 2 diabetes have been reported as long-term sequelae. To our knowledge, this is the first case in the literature presenting with type 2 diabetes as long-term sequelae. PMID:26862317

Prosthetic management of mid-facial defect with magnet-retained silicone prosthesis.

Science.gov (United States)

Buzayan, Muaiyed M

2014-02-01

Mid-facial defect is one of the most disfiguring and impairing defects. A design of prosthesis that is aesthetic and stable can be precious to a patient who has lost part of his face due to surgical excision. Prosthesis can restore the patients' self-esteem and confidence, which affects the patients and their life style. The aim of this case report is to describe a technique of mid-facial silicone prosthesis fabrication. To provide an aesthetic and stable facial prosthesis, the extra-oral prosthesis was fabricated using silicone material, while the intra-oral defect was restored with obturator prosthesis, and then both prostheses were connected and attached to each other using magnets. This clinical report describes the rehabilitation of a large mid-facial defect with a two-piece prosthesis. The silicone facial prosthesis was made hollow and lighter by using an acrylic framework. Two acrylic channels were included within the facial prosthesis to provide the patient with clean and patent airways. A sectional mid-facial prosthesis was made and retained in place by using magnets, which resulted in a significant improvement in the aesthetical and functional outcome without the need for plastic surgery. Silicone prostheses are reliable alternatives to surgery and should be considered in selected cases.

Velar morphological variants in oral submucous fibrosis: A comparative digital cephalometric study

Directory of Open Access Journals (Sweden)

Bhagyashree Mahadevappa Patil

2017-01-01

Full Text Available Context: Soft palate (velar plays a significant role in various important functions in the head and neck region. Its diverse morphology is implicated in a variety of diseases. Knowledge about the varied morphological pattern of soft palate in oral submucous fibrosis (OSMF patients can give us a clear understanding about disease progress in the oropharyngeal region for a proper diagnosis and also help the maxillofacial surgeon in successful structural and functional corrections associated with this disorder. Aim: (1 To evaluate the morphological variations of soft palate in OSMF patients using digital lateral cephalogram. (2 To assess the morphological variations of soft palate with respect to the different clinical stages of OSMF patients. Subjects and Methods: A total number of 300 patients were included in the study (150 participants each in study and control group, evaluated clinically, and subjected for digital lateral cephalogram for evaluating velar morphological variants. Statistical Analysis: The data were statistically evaluated using SPSS 11.5 software with Student's t-test, Chi-square test, and ANOVA. Results: Among Group I, 34 participants had Stage I OSMF, 90 participants had Stage II OSMF, and 26 participants had Stage III OSMF. Type I velar was commonly seen in Stage I OSMF, Type VI velar in Stage II OSMF, and Type III velar in Stage III OSMF. There was statistically highly significant decrease in anterior-posterior (AP length and increase in width of superior-inferior (SI measurement, as compared to the Group II. Conclusion: There was diminution in AP length and increase in SI measurement as the OSMF disease progressed.

[Ectodermal Capdepont syndrome and oral prosthetic rehabilitation. About a clinical case].

Science.gov (United States)

Kumpanya, P; Matshumba, M; Sekele, I B; Mayunga, M; Lutula, P S; Ntumba, M K

2015-03-01

The authors describe the ectodermal Capdepont syndrome as an anomaly characterized by anhidrosis, hypotrichosis and anodontia diagnosed in a 22 year-old adult. In front of this anodontia, oral prosthetic rehabilitation remains the only solution.

[Epidemiological study of dental and facial asymmetries in a sample of preschool subjects].

Science.gov (United States)

Vitale, Marina Consuelo; Barbieri, Federica; Ricotta, Riccardo; Arpesella, Marisa; Emanuelli, Maria Teresa

2015-01-01

to identify the typologies of facial and dental asymmetries in a sample of children aged between 3 and 6 years and to correlate these asymmetries with possible morphological and functional situations. cross-sectional observational study. sample of 95 subjects aged between 3 and 6 years. Clinical data were collected in 10 sessions conducted during school hours in April 2013 by a doctor of Dentistry at two preschools in the city of Sanremo (Liguria Region, Northern Italy) and a kindergarten in the city of Pavia (Lombardy Region, Northern Italy). To collect the data, a weighted clinical questionnaire was used. presence and type of bad habit, type of breathing, presence and type of facial asymmetry, dental formula, presence of diastema, presence and type of occlusal asymmetries, presence and type of dental malocclusions. analysed sample consisted of 53.7% (51/95) of males and 46.3 % (44/95) females; the mean age was 4.3 ± 0.9 years. Most frequent facial asymmetry is orbits asymmetry (35%, 33/95); dental malocclusions are detected in 70%(67/95) of cases. High percentage of subjects (69.5%, 66/95) presents displacement between superior dental midline (SDM) and inferior dental midline (IDM). Several statistically significant associations are observed: in particular, asymmetry of molar ratios is linked to asymmetry of the cheekbones and displacement of the SDM; facial midline has statistical association with asymmetry of the cheekbones (p habits observed and the close correlation between: the presence of dental malocclusions and the presence of compromising habits, the presence of dental malocclusions and the presence of oral breathing.

Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound

International Nuclear Information System (INIS)

Mistry, Kewal A.; Suthar, Pokhraj P.; Bhesania, Siddharth R.; Patel, Ankitkumar

2015-01-01

Jeune syndrome is a rare congenital malformation with a reported incidence of 1 in 100,000–130,000 live births. Thoracic hypoplasia is the most striking abnormality of this disorder. Here we report a case of Jeune syndrome with marked thoracic hypoplasia, micromelia and facial dysmorphism, which was diagnosed on a second-trimester antenatal real-time three-dimensional ultrasound. A 24-year-old primigravida came for routine anomaly scan at 19 weeks of gestation. Transabdominal grey scale and real time 3D ultrasound (US) was done with GE Logiq P5 with curvilinear array transducers (4C and 4D3C-L). US findings were consistent with the diagnosis of Jeune syndrome (Asphyxiating thoracic dysplasia). Jeune syndrome is an extremely rare congenital disorder with a spectrum of abnormalities of which thoracic hypoplasia is the most striking. It can be diagnosed on early antenatal US by its characteristic skeletal and morphological features which can guide further management of pregnancy in form of termination or preparation for surgical correction of the deformity

Embodying Emotional Disorders: New Hypotheses about Possible Emotional Consequences of Motor Disorders in Parkinson's Disease and Tourette's Syndrome

OpenAIRE

Mermillod, Martial; Vermeulen, Nicolas; Droit-Volet, Sylvie; Jalenques, Isabelle; Durif, Franck; Niedenthal, Paula

2011-01-01

Parkinson's disease (PD) and Tourette's syndrome (TS) lead to important motor disorders among patients such as possible facial amimia in PD and tics in Tourette's syndrome. Under the grounded cognition framework that shows the importance of motor embodiment in emotional feeling (Niedenthal, 2007), both types of pathology with motor symptoms should be sufficient to induce potential impairments for these patients when recognizing emotional facial expressions (EFE). In this opinion paper, we des...

Melkersson-Rosenthal syndrome with Hashimoto thyroiditis in a 9-year-old girl: an autoimmune disorder.

Science.gov (United States)

Lee, Yun-Jin; Cheon, Chong Kun; Yeon, Gyu Min; Kim, Young Mi; Nam, Sang Ook

2014-05-01

Melkersson-Rosenthal syndrome (MRS) is a rare disorder of unknown cause. The classical triad of MRS is orofacial edema, recurrent facial paralysis, and a fissured tongue. We present a 9-year-old girl with a recurrent peripheral facial paralysis. She experienced the first episode of a peripheral facial paralysis on the same side without orofacial swelling and lingua plicata 1 year ago. She was diagnosed with Hashimoto thyroiditis 9 months earlier, as confirmed by an endocrinologic investigation. While the patient was hospitalized with recurrent facial paralysis, we found that serum levels of free thyroxine (1.3 ng/dL) and thyrotropin (0.4 uIU/mL) were within normal range, but the level of antithyroperoxidase antibodies (772.0 IU/mL) was very increased. She had been taking an oral prednisolone orally for 2 weeks. At the 1-month follow-up, the patient's symptoms had completely disappeared. The possible correlation between MRS and autoimmune disorders has been documented in only one report, which described an adult with autoimmune thyroiditis (Hashimoto thyroiditis) and MRS. We suggest that the co-occurrence of MRS and Hashimoto thyroiditis is not coincidental but linked to autoimmunity. Copyright © 2014 Elsevier Inc. All rights reserved.

Oral Rehabilitation and Management for Secondary Sjögren's Syndrome in a Child.

Science.gov (United States)

Fidalgo, Tatiana Kelly da Silva; Nogueira, Carla; Andrade, Marcia Rejane Thomas Canabarro; Valente, Andrea Graciene Lopez Ramos; Tannure, Patricia Nivoloni

2016-01-01

The aim of this paper is to describe a rare case report of a pediatric patient with secondary Sjögren's syndrome (SSS). A 12-year-old female child was referred to the Pediatric Dentistry Clinic with the chief complaint of tooth pain, dry mouth, and tooth sensibility. The patient was submitted to orthodontic treatment prior to syndrome diagnosis. The clinical treatment consisted of the interruption of orthodontic treatment and restoring the oral condition with dental treatment and the use of artificial saliva in an innovative apparatus. Dental therapy involved the control of dental caries, periodontal disease, and opportunistic fungal infections and the use of fluoride-rich solutions. The present clinical case describes clinical and laboratory aspects of SSS in pediatric patients. The management of the oral findings promoted an improvement in the oral health status and quality of life of the child.

Embodying Emotional Disorders: New Hypotheses about Possible Emotional Consequences of Motor Disorders in Parkinson's Disease and Tourette's Syndrome.

Science.gov (United States)

Mermillod, Martial; Vermeulen, Nicolas; Droit-Volet, Sylvie; Jalenques, Isabelle; Durif, Franck; Niedenthal, Paula

2011-01-01

Parkinson's disease (PD) and Tourette's syndrome (TS) lead to important motor disorders among patients such as possible facial amimia in PD and tics in Tourette's syndrome. Under the grounded cognition framework that shows the importance of motor embodiment in emotional feeling (Niedenthal, 2007), both types of pathology with motor symptoms should be sufficient to induce potential impairments for these patients when recognizing emotional facial expressions (EFE). In this opinion paper, we describe a theoretical framework that assumes potential emotional disorders in Parkinson's disease and Tourette's syndrome based on motor disorders characterizing these two pathologies. We also review different methodological barriers in previous experimental designs that could enable the identification of emotional facial expressions despite emotional disorders in PD and TS.

Digit Sucking Habit and Association with Dental Caries and Oral Hygiene Status of Children Aged 6 Months to 12 Years Resident in Semi-Urban Nigeria.

Science.gov (United States)

Kolawole, Kikelomo Adebanke; Folayan, Morenike Oluwatoyin; Agbaje, Hakeem Olatunde; Oyedele, Titus Ayodeji; Oziegbe, Elizabeth Obhioneh; Onyejaka, Nneka Kate; Chukwumah, Nneka Maureen; Oshomoji, Olusegun Victor

2016-01-01

Non-nutritive sucking (NNS) is a common behavior in childhood. The association between digit sucking, dental caries and oral health has been studied with inconclusive results. The objectives of this study were to determine the prevalence of, and the association between digit sucking, caries and oral hygiene status of children age six months to 12 years, resident in Ile-Ife, Osun State, Nigeria. A cross-sectional study was conducted in Ife Central Local Government Area of Osun State. Data were collected through a household survey using a multi-stage sampling procedure from children between six months and 12 years. Details of each child's socio-demographic characteristics, digit sucking habits, caries status and oral health status were collected. The association between digit sucking, caries status and oral hygiene status was determined using Chi square and Logistic regression. The mean age of the 992 study participants was 5.8 ± (3.2) years. The prevalence of digit sucking, caries and poor oral hygiene were 7.2%, 10.5% and 2.4% respectively. The mean dmft score was 0.22 ± (0.80), mean DMFT score was 0.04 ± (0.30) while mean Oral Hygiene Index score was 1.27 ± (0.73). Digit sucking increased the odds of having caries (OR: 1.28; CI: 0.58-2.81) but decreased the odds of having poor oral hygiene (OR: 0.58; CI: 0.34-1.01) insignificantly. Digit sucking was not a significant predictor of caries and oral hygiene status, although the odds of having caries increased while the odds of having poor oral hygiene decreased with digit sucking.

Digital Image Speckle Correlation for the Quantification of the Cosmetic Treatment with Botulinum Toxin Type A (BTX-A)

Science.gov (United States)

Bhatnagar, Divya; Conkling, Nicole; Rafailovich, Miriam; Dagum, Alexander

2012-02-01

The skin on the face is directly attached to the underlying muscles. Here, we successfully introduce a non-invasive, non-contact technique, Digital Image Speckle Correlation (DISC), to measure the precise magnitude and duration of facial muscle paralysis inflicted by BTX-A. Subjective evaluation by clinicians and patients fail to objectively quantify the direct effect and duration of BTX-A on the facial musculature. By using DISC, we can (a) Directly measure deformation field of the facial skin and determine the locus of facial muscular tension(b)Quantify and monitor muscular paralysis and subsequent re-innervation following injection; (c) Continuously correlate the appearance of wrinkles and muscular tension. Two sequential photographs of slight facial motion (frowning, raising eyebrows) are taken. DISC processes the images to produce a vector map of muscular displacement from which spatially resolved information is obtained regarding facial tension. DISC can track the ability of different muscle groups to contract and can be used to predict the site of injection, quantify muscle paralysis and the rate of recovery following BOTOX injection.

Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

Science.gov (United States)

McVeigh, Terri P; Banka, Siddharth; Reardon, William

2015-10-01

Kabuki syndrome is a rare genetic malformation syndrome that is characterized by distinct facies, structural defects and intellectual disability. Kabuki syndrome may be caused by mutations in one of two histone methyltransferase genes: KMT2D and KDM6A. We describe a male child of nonconsanguineous Irish parents presenting with multiple malformations, including bilateral extreme microphthalmia; cleft palate; congenital diaphragmatic hernia; duplex kidney; as well as facial features of Kabuki syndrome, including interrupted eyebrows and lower lid ectropion. A de-novo germline mutation in KMT2D was identified. Whole-exome sequencing failed to reveal mutations in any of the known microphthalmia/anopthalmia genes. We also identified four other patients with Kabuki syndrome and microphthalmia. We postulate that Kabuki syndrome may produce this type of ocular phenotype as a result of extensive interaction between KMT2D, WAR complex proteins and PAXIP1. Children presenting with microphthalmia/anophthalmia should be examined closely for other signs of Kabuki syndrome, especially at an age where the facial gestalt might be less readily appreciable.

New mechanism of oral immunity to mucosal candidiasis in hyper-IgE syndrome.

Science.gov (United States)

Conti, H R; Baker, O; Freeman, A F; Jang, W S; Holland, S M; Li, R A; Edgerton, M; Gaffen, S L

2011-07-01

Oropharyngeal candidiasis (OPC, thrush) is an opportunistic infection caused by the commensal fungus Candida albicans. An understanding of immunity to Candida has recently begun to unfold with the identification of fungal pattern-recognition receptors such as C-type lectin receptors, which trigger protective T-helper (Th)17 responses in the mucosa. Hyper-IgE syndrome (HIES/Job's syndrome) is a rare congenital immunodeficiency characterized by dominant-negative mutations in signal transducer and activator of transcription 3, which is downstream of the Th17-inductive cytokines interleukin (IL)-6 and IL-23, and hence patients with HIES exhibit dramatic Th17 deficits. HIES patients develop oral and mucocutaneous candidiasis, supporting a protective role for Th17 cells in immunity to OPC. However, the Th17-dependent mechanisms of antifungal immunity in OPC are still poorly defined. An often unappreciated aspect of oral immunity is saliva, which is rich in antimicrobial proteins (AMPs) and exerts direct antifungal activity. In this study, we show that HIES patients show significant impairment in salivary AMPs, including β-defensin 2 and Histatins. This tightly correlates with reduced candidacidal activity of saliva and concomitantly elevated colonization with Candida. Moreover, IL-17 induces histatins in cultured salivary gland cells. This is the first demonstration that HIES is associated with defective salivary activity, and provides a mechanism for the severe susceptibility of these patients to OPC.

Oral health in children with physical (Cerebral Palsy) and intellectual (Down Syndrome) disabilities: Systematic review I.

Science.gov (United States)

Diéguez-Pérez, Montserrat; de Nova-García, Manuel-Joaquín; Mourelle-Martínez, M Rosa; Bartolomé-Villar, Begona

2016-07-01

Traditionally, patients with physical and/or intellectual disabilities presented greater oral pathology, owing to their condition and to other external factors. Improved social and health conditions make it necessary to update knowledge on their oral and dental health. For this purpose, a bibliographic review was done regarding the state of oral health of children with these two types of disability, in comparison with a control group. Some of the guidelines of the PRISMA statement were taken into account. The ranking of the articles found is based on the modified Newcastle-Ottawa Quality Assessment Scale. The final number of articles evaluated was 14. Parameters such as dental caries, oral hygiene, gingival health, dental traumas, malocclusion and habits were considered. There is no consensus among authors regarding dental caries, oral hygiene and gingival health. The different results obtained are due in part to the fact that the methodologies used were not the same. However, it has been noted that, when studying other parameters and regardless of the methodology employed, the results obtained are similar. Children with physical and intellectual disabilities constitute a group that needs early and regular dental care in order to prevent and limit the severity of the pathologies observed. Oral health, dental caries, malocclusion, oral habits, dental trauma, oral hygiene, disabled child, cerebral palsy and Down syndrome.

"Nine" syndrome: A new neuro-ophthalmologic syndrome: Report of two cases

Directory of Open Access Journals (Sweden)

Rohan R Mahale

2015-01-01

Full Text Available "Eight-and-a-half" syndrome is a rare condition involving the ipsilateral abducens nucleus or paramedian pontine reticular formation (PPRF, the ipsilateral medial longitudinal fasciculus (MLF, and the adjacent facial colliculus/facial nerve fascicle. The condition is often caused by a lesion (vascular or demyelinating in the dorsal tegmentum of the caudal pons. There are new variants of this syndrome caused by extension of lesion to involve new adjacent structures in pontine tegmentum. We report two patients with different etiology presenting with clinical features suggestive of eight-and-a-half syndrome associated with hemiataxia representing "nine" syndrome (8– + – = 9 adding new dimension to "eight-and-a-half" syndrome.

Mathematical (diagnostic algorithms in the digitization of oral histopathology: The new frontier in histopathological diagnosis

Directory of Open Access Journals (Sweden)

Abhishek Banerjee

2015-01-01

Full Text Available The technological progress in the digitalization of a complete histological glass slide has opened a new door in the tissue based diagnosis. Automated slide diagnosis can be made possible by the use of mathematical algorithms which are formulated by binary codes or values. These algorithms (diagnostic algorithms include both object based (object features, structures and pixel based (texture measures. The intra- and inter-observer errors inherent in the visual diagnosis of a histopathological slide are largely replaced by the use of diagnostic algorithms leading to a standardized and reproducible diagnosis. The present paper reviews the advances in digital histopathology especially related to the use of mathematical algorithms (diagnostic algorithms in the field of oral histopathology. The literature was reviewed for data relating to the use of algorithms utilized in the construction of computational software with special applications in oral histopathological diagnosis. The data were analyzed, and the types and end targets of the algorithms were tabulated. The advantages, specificities and reproducibility of the software, its shortcomings and its comparison with traditional methods of histopathological diagnosis were evaluated. Algorithms help in automated slide diagnosis by creating software with possible reduced errors and bias with a high degree of specificity, sensitivity, and reproducibility. Akin to the identification of thumbprints and faces, software for histopathological diagnosis will in the near future be an important part of the histopathological diagnosis.

Treatment of facial lipoatrophy with polymethylmethacrylate among patients with human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS): impact on the quality of life.

Science.gov (United States)

Quintas, Rodrigo C S; de França, Emmanuel R; de Petribú, Kátia C L; Ximenes, Ricardo A A; Quintas, Lóren F F M; Cavalcanti, Ernando L F; Kitamura, Marco A P; Magalhães, Kássia A A; Paiva, Késsia C F; Filho, Demócrito B Miranda

2014-04-01

The lipodystrophy syndrome is characterized by selective loss of subcutaneous fat on the face and extremities (lipoatrophy) and/or accumulation of fat around the neck, abdomen, and thorax (lipohypertrophy). The aim of this study has been to assess the impact of polymethylmethacrylate facial treatment on quality of life, self-perceived facial image, and the severity of depressive symptoms in patients living with HIV/AIDS. A non-randomized before and after interventional study was developed. Fifty-one patients underwent facial filling. The self-perceived quality of life, facial image, and degree of depressive symptoms were measured by the Short-Form 36 and HIV/AIDS--Targeted quality of life questionnaires, by a visual analogue scale and by the Beck depression inventory, respectively, before and three months after treatment. Six of the eight domains of Short-Form 36 and eight of the nine dimensions of the HIV/AIDS--Targeted quality of life questionnaires, together with the visual analogue scale and by the Beck depression inventory scores, revealed a statistically significant improvement. The only adverse effects registered were edema and ecchymosis. The treatment of facial lipoatrophy improved the self-perceived quality of life and facial image as well as any depressive symptoms among patients with HIV/AIDS. © 2014 The International Society of Dermatology.

Prevalence of Oro-Facial Lesions in Human Immunodeficiency Virus ...

African Journals Online (AJOL)

Conclusion: Oro-facial lesions are among the earliest clinical manifestations of HIV infection. These were commonly observed in HIV infected Nigerian women. Oral candidiasis the most common oral lesion observed in the series may therefore be used as a clinical indicator of early immunodeficiency associated with HIV.

Esthetic evaluation of the facial profile in rehabilitated adults with complete bilateral cleft lip and palate.

Science.gov (United States)

Ferrari Júnior, Flávio Mauro; Ayub, Priscila Vaz; Capelozza Filho, Leopoldino; Pereira Lauris, José Roberto; Garib, Daniela Gamba

2015-01-01

To assess the facial esthetics of patients with complete bilateral cleft lip and palate, and to compare the judgment of raters related and unrelated to cleft care. The sample comprised 23 adult patients (7 women and 16 men) with a mean age of 26.1 years, rehabilitated at a single center. Standardized photographs of the right and left facial profile were taken of each patient and subjectively evaluated by 25 examiners: 5 orthodontists and 5 plastic surgeons with expertise in oral cleft rehabilitation, 5 orthodontists and 5 plastic surgeons without expertise in oral cleft rehabilitation, and 5 laypersons. The facial profiles were classified into 3 categories: esthetically unpleasant, esthetically acceptable, and esthetically pleasant. Intraexaminer and interexaminer agreements were evaluated with the Spearman correlation coefficient and Kendall coefficient of concordance. The differences between rater categories were analyzed using the Student-Newman-Keuls test (with P esthetically acceptable. Orthodontists and plastic surgeons related to oral cleft rehabilitation gave the best scores to the facial profiles, followed by layperson examiners and by orthodontists and plastic surgeons unrelated to oral cleft rehabilitation. The middle third of the face, the nose, and the upper lip were frequently pointed out as contributors to the esthetic impairment. The facial profile of rehabilitated adult patients with complete bilateral cleft lip and palate was considered esthetically acceptable because of morphologic limitations in the structures affected by the cleft. Laypersons and professionals unrelated to oral cleft rehabilitation seem to be more critical regarding facial esthetics than professionals involved with cleft rehabilitation. Copyright © 2015. Published by Elsevier Inc.

Digit Sucking, Age, Sex, and Socioeconomic Status as Determinants of Oral Hygiene Status and Gingival Health of Children in Suburban Nigeria.

Science.gov (United States)

Agbaje, Hakeem O; Kolawole, Kikelomo A; Folayan, Morenike O; Onyejaka, Nneka K; Oziegbe, Elizabeth O; Oyedele, Titus A; Chukwumah, Nneka M; Oshomoji, Olusegun V

2016-09-01

This study determines prevalence of digit sucking and gingivitis, and association among age, sex, socioeconomic status, presence of digit-sucking habits, oral hygiene status (OHS), and gingivitis among a group of Nigerian children. Data of 992 children aged 1 to 12 years recruited through a household survey conducted in Osun State, Nigeria were analyzed. Information on age, sex, socioeconomic status, and history of digit-sucking habits were collected. Children were assessed for OHS and severity of gingivitis using the simplified oral hygiene index and the gingival index, respectively. Predictors of presence of gingivitis and poor oral hygiene were determined using multivariate logistic regression. One (0.2%) and 454 (93.0%) children aged 1 to 5 years had poor oral hygiene and mild gingivitis, respectively. Twenty-two (4.4%) and 361 (72.9%) children aged 6 to 12 years had poor oral hygiene and mild gingivitis, respectively. The odds of having poor oral hygiene (adjusted odds ratio [AOR]: 0.26; 95% confidence interval [CI]: 0.20 to 0.35; P oral hygiene and gingivitis. Increasing age and low socioeconomic status were factors that significantly increased chances of having poor oral hygiene and gingivitis.

Case Report: A true median facial cleft (crano-facial dysraphia ...

African Journals Online (AJOL)

Case Report: A true median facial cleft (crano-facial dysraphia, atessier type O) in Bingham University Teaching Hospital, Jos. ... Patient had a multidisciplinary care by the obstetrician, Neonatologist, anesthesiologist and the plastic surgery team who scheduled a soft tissue repair of the upper lip defect, columella and ...

MRI enhancement of the facial nerve with Gd-DTPA, 2; Investigation of enhanced nerve portions in patients with facial palsy

Energy Technology Data Exchange (ETDEWEB)

Yanagida, Masahiro (Kansai Medical School, Moriguchi, Osaka (Japan))

1993-08-01

We performed enhanced MRI using Gd-DTPA in 84 patients with facial palsy. After assessing enhancement of the normal facial nerve, we examined enhancement in patients with Bell's palsy and Ramsay Hunt syndrome. In 95% of patients with Bell's palsy, enhancement was obtained in the distal IAC and labyrinthine portions. In 72%, enhancement was significant from the distal IAC portion through the vertical portion. In some of the patients who underwent enhanced MRI twice, increased signal intensity was observed in distal portions such as the vertical portion. In many cases of Ramsay Hunt syndrome, enhancement was seen extensively in the IAC portion through the vertical portion. In the subjects with internal auditory symptoms such as vertigo and tinnitus, enhancement of the IAC portion was seen not only in the facial nerve but also in the vestibular and the cochlear nerves. These results suggest that the vascular permeability of lesions in Bell's palsy may be increased from the distal IAC portion to the vertical portion. Judging from the present findings with Ramsay Hunt syndrome, symptoms related to the enhanced portions suggest that accompanying internal auditory symptoms occur due to inflammation of the IAC portions of cochlear and vestibular nerves. (author).

A CONTROVERSIAL ON THE DIAGNOSIS OF CHRONIC BULLOUS TYPE MUCOCUTANEOUS DISEASE INVOLVING ORAL MUCOSA (A CASE REPORT

Directory of Open Access Journals (Sweden)

Isadora Gracia

2006-04-01

Full Text Available A case of chronic bullous type mucocutaneous disease involving oral mucosa was reported from a 56 years old man with never healing oral ulcers and wound on the perianal skin for three years. There were also red and black spots on the limb and back skin and a lesion on nail. Painful oral lesion consisted of mucous erosion, desquamative gingivitis, and sloughing area on palate and tongue. The patient is diabetic. The first perianal skin diagnosis was granulomatous candidasis with differential diagnosis pemphigus vegetates and acuminarum condiloma. However the histopathologic examination did not support these diagnosis. After several histopathologic examinations, the latest perianal skin diagnosis was lichen planus with differential diagnosis granulomatous vasculitis, bowenoid papulosis and pyodema gangrenosum. Other skin diagnosis was erythema multiforme. Oral diagnosis was mucous membrane pemphigoid with differential diagnosis lichen planus, Behçet's syndrome and erythema multiforme. Oral histopathologic examinations showed a sub-epithelial blister, which supported mucous membrane pemphigoid. A lip balm, prednisone 5 mg oral rinse and multivitamins were given but oral improvement started after blood sugar level was controlled. Conclusion: It is not yet known whether skin and oral mucous lesions are from the same disease or not.

Enzymatic Activity of Candida spp. from Oral Cavity and Urine in Children with Nephrotic Syndrome.

Science.gov (United States)

Olczak-Kowalczyk, Dorota; Roszkowska-Blaim, Maria; Dąbkowska, Maria; Swoboda-Kopeć, Ewa; Gozdowski, Dariusz; Mizerska-Wasiak, Małgorzata; Demkow, Urszula; Pańczyk-Tomaszewska, Małgorzata

2017-01-01

Oral colonization with Candida spp. is not synonymous with a systemic active infection. The aim of the study was to evaluate enzymatic activity of Candida strains isolated from the oral cavity in patients with nephrotic syndrome (NS) and to compare it with the activity determined in urine. We studied 32 children with NS and 26 control healthy children. Children with NS were treated with glucocorticosteroids, cyclosporin A, mycophenolate mofetil or azathioprine. In all children, API-ZYM enzymatic tests were performed to evaluate hydrolytic enzymes of Candida isolated from the oral cavity and in urine. Candida spp. were isolated from the oral cavity in 11 patients with NS (34.4%), all receiving immunosuppressive treatment. All strains produced valine arylamidase, 9 alpha-glucosidase (E16), and 9 N-acetyl-beta-glucosaminidase (E18). A positive correlation between the presence of Candida in the oral cavity and E16 and E18 enzymatic activity in both oral cavity and urine was found. A dose of cyclosporin A had an effect on the enzymatic activity (p Candida invasion. The results of this study suggest that oral candida infection should be monitored in children with nephrotic syndrome, particularly those treated with immunosuppressive agents.

Impact of Facial Conformation on Canine Health: Brachycephalic Obstructive Airway Syndrome

Science.gov (United States)

Packer, Rowena M. A.; Hendricks, Anke; Tivers, Michael S.; Burn, Charlotte C.

2015-01-01

The domestic dog may be the most morphologically diverse terrestrial mammalian species known to man; pedigree dogs are artificially selected for extreme aesthetics dictated by formal Breed Standards, and breed-related disorders linked to conformation are ubiquitous and diverse. Brachycephaly–foreshortening of the facial skeleton–is a discrete mutation that has been selected for in many popular dog breeds e.g. the Bulldog, Pug, and French Bulldog. A chronic, debilitating respiratory syndrome, whereby soft tissue blocks the airways, predominantly affects dogs with this conformation, and thus is labelled Brachycephalic Obstructive Airway Syndrome (BOAS). Despite the name of the syndrome, scientific evidence quantitatively linking brachycephaly with BOAS is lacking, but it could aid efforts to select for healthier conformations. Here we show, in (1) an exploratory study of 700 dogs of diverse breeds and conformations, and (2) a confirmatory study of 154 brachycephalic dogs, that BOAS risk increases sharply in a non-linear manner as relative muzzle length shortens. BOAS only occurred in dogs whose muzzles comprised less than half their cranial lengths. Thicker neck girths also increased BOAS risk in both populations: a risk factor for human sleep apnoea and not previously realised in dogs; and obesity was found to further increase BOAS risk. This study provides evidence that breeding for brachycephaly leads to an increased risk of BOAS in dogs, with risk increasing as the morphology becomes more exaggerated. As such, dog breeders and buyers should be aware of this risk when selecting dogs, and breeding organisations should actively discourage exaggeration of this high-risk conformation in breed standards and the show ring. PMID:26509577

Impact of Facial Conformation on Canine Health: Brachycephalic Obstructive Airway Syndrome.

Science.gov (United States)

Packer, Rowena M A; Hendricks, Anke; Tivers, Michael S; Burn, Charlotte C

2015-01-01

The domestic dog may be the most morphologically diverse terrestrial mammalian species known to man; pedigree dogs are artificially selected for extreme aesthetics dictated by formal Breed Standards, and breed-related disorders linked to conformation are ubiquitous and diverse. Brachycephaly--foreshortening of the facial skeleton--is a discrete mutation that has been selected for in many popular dog breeds e.g. the Bulldog, Pug, and French Bulldog. A chronic, debilitating respiratory syndrome, whereby soft tissue blocks the airways, predominantly affects dogs with this conformation, and thus is labelled Brachycephalic Obstructive Airway Syndrome (BOAS). Despite the name of the syndrome, scientific evidence quantitatively linking brachycephaly with BOAS is lacking, but it could aid efforts to select for healthier conformations. Here we show, in (1) an exploratory study of 700 dogs of diverse breeds and conformations, and (2) a confirmatory study of 154 brachycephalic dogs, that BOAS risk increases sharply in a non-linear manner as relative muzzle length shortens. BOAS only occurred in dogs whose muzzles comprised less than half their cranial lengths. Thicker neck girths also increased BOAS risk in both populations: a risk factor for human sleep apnoea and not previously realised in dogs; and obesity was found to further increase BOAS risk. This study provides evidence that breeding for brachycephaly leads to an increased risk of BOAS in dogs, with risk increasing as the morphology becomes more exaggerated. As such, dog breeders and buyers should be aware of this risk when selecting dogs, and breeding organisations should actively discourage exaggeration of this high-risk conformation in breed standards and the show ring.

Impact of Facial Conformation on Canine Health: Brachycephalic Obstructive Airway Syndrome.

Directory of Open Access Journals (Sweden)

Rowena M A Packer

Full Text Available The domestic dog may be the most morphologically diverse terrestrial mammalian species known to man; pedigree dogs are artificially selected for extreme aesthetics dictated by formal Breed Standards, and breed-related disorders linked to conformation are ubiquitous and diverse. Brachycephaly--foreshortening of the facial skeleton--is a discrete mutation that has been selected for in many popular dog breeds e.g. the Bulldog, Pug, and French Bulldog. A chronic, debilitating respiratory syndrome, whereby soft tissue blocks the airways, predominantly affects dogs with this conformation, and thus is labelled Brachycephalic Obstructive Airway Syndrome (BOAS. Despite the name of the syndrome, scientific evidence quantitatively linking brachycephaly with BOAS is lacking, but it could aid efforts to select for healthier conformations. Here we show, in (1 an exploratory study of 700 dogs of diverse breeds and conformations, and (2 a confirmatory study of 154 brachycephalic dogs, that BOAS risk increases sharply in a non-linear manner as relative muzzle length shortens. BOAS only occurred in dogs whose muzzles comprised less than half their cranial lengths. Thicker neck girths also increased BOAS risk in both populations: a risk factor for human sleep apnoea and not previously realised in dogs; and obesity was found to further increase BOAS risk. This study provides evidence that breeding for brachycephaly leads to an increased risk of BOAS in dogs, with risk increasing as the morphology becomes more exaggerated. As such, dog breeders and buyers should be aware of this risk when selecting dogs, and breeding organisations should actively discourage exaggeration of this high-risk conformation in breed standards and the show ring.

Genetics Home Reference: type A insulin resistance syndrome

Science.gov (United States)

... Conditions Type A insulin resistance syndrome Type A insulin resistance syndrome Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Type A insulin resistance syndrome is a rare disorder characterized by severe ...

Variant facial artery in the submandibular region.

Science.gov (United States)

Vadgaonkar, Rajanigandha; Rai, Rajalakshmi; Prabhu, Latha V; Bv, Murlimanju; Samapriya, Neha

2012-07-01

Facial artery has been considered to be the most important vascular pedicle in facial rejuvenation procedures and submandibular gland (SMG) resection. It usually arises from the external carotid artery and passes from the carotid to digastric triangle, deep to the posterior belly of digastric muscle, and lodges in a groove at the posterior end of the SMG. It then passes between SMG and the mandible to reach the face after winding around the base of the mandible. During a routine dissection, in a 62-year-old female cadaver, in Kasturba Medical College Mangalore, an unusual pattern in the cervical course of facial artery was revealed. The right facial artery was found to pierce the whole substance of the SMG before winding around the lower border of the mandible to enter the facial region. Awareness of existence of such a variant and its comparison to the normal anatomy will be useful to oral and maxillofacial surgeons.

Oral Nodular Lesions in Patients with Sjögren’s Syndrome: Unusual Oral Implications of a Systemic Disorder

OpenAIRE

Pinheiro, Juliana Barchelli; Tirapelli, Camila; Silva, Claudia Helena Lovato da; Komesu, Marilena Chinali; Petean, Flávio Calil; Louzada Junior, Paulo; León, Jorge Esquiche; Motta, Ana Carolina Fragoso

2017-01-01

Abstract Sjögren’s syndrome (SS) is a systemic chronic autoimmune disorder affecting the lacrimal and salivary glands. SS may manifest as primary SS (pSS) or secondary SS (sSS), the latter occurring in the context of another autoimmune disorder. In both cases, the dry eyes and mouth affect the patient’s quality of life. Late complications may include blindness, dental tissue destruction, oral candidiasis and lymphoma. This paper reports two cases of SS, each of them presenting unusual oral no...

Oral Ketamine in the Palliative Care Setting: A Review of the Literature and Case Report of a Patient With Neurofibromatosis Type 1 and Glomus Tumor-Associated Complex Regional Pain Syndrome

Science.gov (United States)

Soto, Eliezer; Stewart, Douglas R.; Mannes, Andrew J.; Ruppert, Sarah L.; Baker, Karen; Zlott, Daniel; Handel, Daniel; Berger, Ann M.

2014-01-01

Ketamine, an N-methyl-D-aspartate (NMDA) receptor antagonist, has been shown to be effective not only for its anesthetic properties but also for the analgesic and opiate-sparing effects. However, data on efficacy and safety of oral ketamine for the treatment of neuropathic or cancer pain syndromes is limited with most of the evidence based on small clinical trials and anecdotal experiences. In this review, we will analyze the clinical data on oral ketamine in the palliative care setting. After an extensive search using five major databases, a total of 19 relevant articles were included. No official clinical guidelines for the use of oral ketamine in this patient population were found. Studies on oral ketamine for cancer and neuropathic pain have shown mixed results which could be partially due to significant differences in hepatic metabolism. In addition, we will include a case report of a 38-year-old female with neurofibromatosis type 1 (NF1) with history of chronic, severe pain in her fingertips secondary to multiple glomus tumors which evolved into CRPS resistant to multiple therapies but responsive to oral ketamine. Based on our experience with oral ketamine, this drug should be administered after an intravenous trial to monitor response and side effects in patients with an adequate functional status. However, patients in the palliative care and hospice setting, especially the one at the end of their lives, may also benefit from oral ketamine even if an intravenous trial is not feasible. PMID:21803784

Classifying dysmorphic syndromes by using artificial neural network based hierarchical decision tree.

Science.gov (United States)

Özdemir, Merve Erkınay; Telatar, Ziya; Eroğul, Osman; Tunca, Yusuf

2018-05-01

Dysmorphic syndromes have different facial malformations. These malformations are significant to an early diagnosis of dysmorphic syndromes and contain distinctive information for face recognition. In this study we define the certain features of each syndrome by considering facial malformations and classify Fragile X, Hurler, Prader Willi, Down, Wolf Hirschhorn syndromes and healthy groups automatically. The reference points are marked on the face images and ratios between the points' distances are taken into consideration as features. We suggest a neural network based hierarchical decision tree structure in order to classify the syndrome types. We also implement k-nearest neighbor (k-NN) and artificial neural network (ANN) classifiers to compare classification accuracy with our hierarchical decision tree. The classification accuracy is 50, 73 and 86.7% with k-NN, ANN and hierarchical decision tree methods, respectively. Then, the same images are shown to a clinical expert who achieve a recognition rate of 46.7%. We develop an efficient system to recognize different syndrome types automatically in a simple, non-invasive imaging data, which is independent from the patient's age, sex and race at high accuracy. The promising results indicate that our method can be used for pre-diagnosis of the dysmorphic syndromes by clinical experts.

Co-occurrence of Pain Symptoms and Somatosensory Sensitivity in Burning Mouth Syndrome: A Systematic Review

Science.gov (United States)

Moisset, Xavier; Calbacho, Valentina; Torres, Pilar; Gremeau-Richard, Christelle; Dallel, Radhouane

2016-01-01

Background Burning mouth syndrome (BMS) is a chronic and spontaneous oral pain with burning quality in the tongue or other oral mucosa without any identifiable oral lesion or laboratory finding. Pathogenesis and etiology of BMS are still unknown. However, BMS has been associated with other chronic pain syndromes including other idiopathic orofacial pain, the dynias group and the family of central sensitivity syndromes. This would imply that BMS shares common mechanisms with other cephalic and/or extracephalic chronic pains. The primary aim of this systematic review was to determine whether BMS is actually associated with other pain syndromes, and to analyze cephalic and extracephalic somatosensory sensitivity in these patients. Methods This report followed the PRISMA Statement. An electronic search was performed until January 2015 in PubMed, Cochrane library, Wiley and ScienceDirect. Searched terms included “burning mouth syndrome OR stomatodynia OR glossodynia OR burning tongue OR oral burning”. Studies were selected according to predefined inclusion criteria (report of an association between BMS and other pain(s) symptoms or of cutaneous cephalic and/or extracephalic quantitative sensory testing in BMS patients), and a descriptive analysis conducted. Results The search retrieved 1512 reports. Out of these, twelve articles met criteria for co-occurring pain symptoms and nine studies for quantitative sensory testing (QST) in BMS patients. The analysis reveals that in BMS patients co-occurring pain symptoms are rare, assessed by only 0.8% (12 of 1512) of the retrieved studies. BMS was associated with headaches, TMD, atypical facial pain, trigeminal neuralgia, post-herpetic facial pain, back pain, fibromyalgia, joint pain, abdominal pain, rectal pain or vulvodynia. However, the prevalence of pain symptoms in BMS patients is not different from that in the age-matched general population. QST studies reveal no or inconsistent evidence of abnormal cutaneous cephalic

Co-occurrence of Pain Symptoms and Somatosensory Sensitivity in Burning Mouth Syndrome: A Systematic Review.

Directory of Open Access Journals (Sweden)

Xavier Moisset

Full Text Available Burning mouth syndrome (BMS is a chronic and spontaneous oral pain with burning quality in the tongue or other oral mucosa without any identifiable oral lesion or laboratory finding. Pathogenesis and etiology of BMS are still unknown. However, BMS has been associated with other chronic pain syndromes including other idiopathic orofacial pain, the dynias group and the family of central sensitivity syndromes. This would imply that BMS shares common mechanisms with other cephalic and/or extracephalic chronic pains. The primary aim of this systematic review was to determine whether BMS is actually associated with other pain syndromes, and to analyze cephalic and extracephalic somatosensory sensitivity in these patients.This report followed the PRISMA Statement. An electronic search was performed until January 2015 in PubMed, Cochrane library, Wiley and ScienceDirect. Searched terms included "burning mouth syndrome OR stomatodynia OR glossodynia OR burning tongue OR oral burning". Studies were selected according to predefined inclusion criteria (report of an association between BMS and other pain(s symptoms or of cutaneous cephalic and/or extracephalic quantitative sensory testing in BMS patients, and a descriptive analysis conducted.The search retrieved 1512 reports. Out of these, twelve articles met criteria for co-occurring pain symptoms and nine studies for quantitative sensory testing (QST in BMS patients. The analysis reveals that in BMS patients co-occurring pain symptoms are rare, assessed by only 0.8% (12 of 1512 of the retrieved studies. BMS was associated with headaches, TMD, atypical facial pain, trigeminal neuralgia, post-herpetic facial pain, back pain, fibromyalgia, joint pain, abdominal pain, rectal pain or vulvodynia. However, the prevalence of pain symptoms in BMS patients is not different from that in the age-matched general population. QST studies reveal no or inconsistent evidence of abnormal cutaneous cephalic and extracephalic

Dentigerous cyst presenting as facial pain

International Nuclear Information System (INIS)

Manzoor, T.; Raza, S.N.; Qayyum, A.; Azam, K.

2006-01-01

A rare case is presented in which a maxillary dentigerous cyst had eroded the posterior wall of the right maxillary sinus into the pterygo-palatine fossa causing facial pain due to pressure on the nerves. It had also eroded the lateral wall of sinus and into the oral cavity and got infected resulting in foul smelling oral discharge. The case was dealt with complete removal of cyst using Caldwell Luc's approach. (author)

Application of Intra-Oral Dental Scanners in the Digital Workflow of Implantology

Science.gov (United States)

van der Meer, Wicher J.; Andriessen, Frank S.; Wismeijer, Daniel; Ren, Yijin

2012-01-01

Intra-oral scanners will play a central role in digital dentistry in the near future. In this study the accuracy of three intra-oral scanners was compared. Materials and methods: A master model made of stone was fitted with three high precision manufactured PEEK cylinders and scanned with three intra-oral scanners: the CEREC (Sirona), the iTero (Cadent) and the Lava COS (3M). In software the digital files were imported and the distance between the centres of the cylinders and the angulation between the cylinders was assessed. These values were compared to the measurements made on a high accuracy 3D scan of the master model. Results: The distance errors were the smallest and most consistent for the Lava COS. The distance errors for the Cerec were the largest and least consistent. All the angulation errors were small. Conclusions: The Lava COS in combination with a high accuracy scanning protocol resulted in the smallest and most consistent errors of all three scanners tested when considering mean distance errors in full arch impressions both in absolute values and in consistency for both measured distances. For the mean angulation errors, the Lava COS had the smallest errors between cylinders 1–2 and the largest errors between cylinders 1–3, although the absolute difference with the smallest mean value (iTero) was very small (0,0529°). An expected increase in distance and/or angular errors over the length of the arch due to an accumulation of registration errors of the patched 3D surfaces could be observed in this study design, but the effects were statistically not significant. Clinical relevance For making impressions of implant cases for digital workflows, the most accurate scanner with the scanning protocol that will ensure the most accurate digital impression should be used. In our study model that was the Lava COS with the high accuracy scanning protocol. PMID:22937030

Oral health-related quality of life in primary Sjögren's syndrome.

Science.gov (United States)

Fernández-Martínez, Gladyz; Zamora-Legoff, Víctor; Hernández Molina, Gabriela

2018-05-10

To assess health-related quality of life (HRQoL) and oral health-related quality of life, and correlate them with unstimulated whole salivary flow (UWSF) and oral sicca symptoms in patients with primary Sjögren's syndrome (PSS). We included 60 patients with PSS and 60 healthy controls matched according to gender and age (±3 years). We measured the UWSF and scored the European League Against Rheumatism (EULAR) Sjögren's Syndrome Patient Reported Index (ESSPRI). We assessed the short version of the SF-36 as a generic measurement of HRQoL and the Xerostomia Quality of Life Scale (XeQoLS) questionnaire to evaluate oral quality of life. We evaluated oral symptoms using an 8-item Visual Analogue Scale (VAS) questionnaire. We observed a poorer HRQoL (lower scores in SF-36) and oral quality of life (higher scores in XeQoLS), as well as a greater severity of symptoms in the VAS questionnaire upon comparing patients vs. controls. The XeQoL correlated with the UWSF (τ = -0.24, P = .008), the ESSPRI (τ =0.45, P = .0001), VAS 1-2 and VAS 5-8 and the SF-36 score (τ = -0.28, P = .002). Patients with PSS had a poorer HRQoL and oral quality of life than controls. UWSF contributes to the oral quality of life which, in turn, has an impact on HRQoL. Symptomatic treatment of xerostomia as well as the prevention of infections, decay and tooth loss would help to improve the oral quality of life in these patients. Copyright © 2018 Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. Publicado por Elsevier España, S.L.U. All rights reserved.

Digital asset management.

Science.gov (United States)

Humphrey, Clinton D; Tollefson, Travis T; Kriet, J David

2010-05-01

Facial plastic surgeons are accumulating massive digital image databases with the evolution of photodocumentation and widespread adoption of digital photography. Managing and maximizing the utility of these vast data repositories, or digital asset management (DAM), is a persistent challenge. Developing a DAM workflow that incorporates a file naming algorithm and metadata assignment will increase the utility of a surgeon's digital images. Copyright 2010 Elsevier Inc. All rights reserved.

OCULO-CEREBRO-RENAL SYNDROME (LOWE'S SYNDROME)

Institute of Scientific and Technical Information of China (English)

无

1991-01-01

Oculo-cerebro-renal syndrome (Lowe's syndrome) is characterized by mental and motor retardation, cataract, glaucoma and renal abnormalities. It is an X-linked recessive metabolic disease. Two brothers suffering from Lowe's syndrome are reported. Their mother with lenticular opacities and peculiar facial appearance is in concordance with the obligate carrier. The ocular changes and heridity are discussed.

A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients

DEFF Research Database (Denmark)

Lund, A.B. Kiholm; Hove, H.D.; Kirchhoff, M.

2008-01-01

A 15q24 microduplication, reciprocal to the minimal critical region for the recently described 15q24 microdeletion syndrome, was found in a 2-year-old boy by 244k Agilent oligoarray CGH analysis. The boy had global developmental delay and dysmorphic facial features, digital and genital abnormalit...

Costello syndrome

Directory of Open Access Journals (Sweden)

Madhukara J

2007-01-01

Full Text Available Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to normal nonconsanguineous parents presented to us with abnormal facial features, arrhythmia, mitral valve dysfunction and growth retardation. His cutaneous examination revealed lax and pigmented skin over hands and feet with deep creases, acanthosis nigricans and short curly hairs. Its differentiation from other syndromes with similar clinical features is discussed in this article.

Four siblings with distal renal tubular acidosis and nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial appearance: a possible new autosomal recessive syndrome.

Science.gov (United States)

Faqeih, Eissa; Al-Akash, Samhar I; Sakati, Nadia; Teebi, Prof Ahmad S

2007-09-01

We report on four siblings (three males, one female) born to first cousin Arab parents with the constellation of distal renal tubular acidosis (RTA), small kidneys, nephrocalcinosis, neurobehavioral impairment, short stature, and distinctive facial features. They presented with early developmental delay with subsequent severe mental, behavioral and social impairment and autistic-like features. Their facial features are unique with prominent cheeks, well-defined philtrum, large bulbous nose, V-shaped upper lip border, full lower lip, open mouth with protruded tongue, and pits on the ear lobule. All had proteinuria, hypercalciuria, hypercalcemia, and normal anion-gap metabolic acidosis. Renal ultrasound examinations revealed small kidneys, with varying degrees of hyperechogenicity and nephrocalcinosis. Additional findings included dilated ventricles and cerebral demyelination on brain imaging studies. Other than distal RTA, common causes of nephrocalcinosis were excluded. The constellation of features in this family currently likely represents a possibly new autosomal recessive syndrome providing further evidence of heterogeneity of nephrocalcinosis syndromes. Copyright 2007 Wiley-Liss, Inc.

Do scleroderma patients look young?: Evaluation by using facial imaging system.

Science.gov (United States)

Sawamura, Soichiro; Jinnin, Masatoshi; Kajihara, Ikko; Makino, Katsunari; Aoi, Jun; Ichihara, Asako; Makino, Takamitsu; Fukushima, Satoshi; Ihn, Hironobu

2017-01-01

These days various collagen supplements have widely been marketed. However, it has not been scientifically proved whether increasing collagen can actually prevent skin aging. Systemic sclerosis (SSc) is an autoimmune disease that is characterized by thickening of the skin caused by accumulation of collagen. In this study, we tried to evaluate facial skin characteristics and skin aging of SSc patients by using digital imaging system. As the result, the severity of wrinkles, texture and pores were significantly lower in SSc patients than control subjects. Among them, wrinkles showed better correlation with skin thickness score. Therefore, increased amount of collagen in scleroderma skin may directly affect wrinkles. In conclusion, attempt on collagen induction itself is reasonable and effective strategy in order to keep young appearance, although oral collagen supplementation may not directly reach to the skin.

[Influence of trigeminal nerve lesion on facial growth: study of two cases of Goldenhar syndrome].

Science.gov (United States)

Darris, Pierre; Treil, Jacques; Marchal-Sixou, Christine; Baron, Pascal

2015-06-01

This cases report confirms the hypothesis that embryonic and maxillofacial growth are influenced by the peripheral nervous system, including the trigeminal nerve (V). So, it's interesting to use the stigma of the trigeminal nerve as landmarks to analyze the maxillofacial volume and understand its growth. The aim of this study is to evaluate the validity of the three-dimensional cephalometric analysis of Treil based on trigeminal landmarks. The first case is a caucasian female child with Goldenhar syndrome. The second case is a caucasian male adult affected by the same syndrome. In both cases, brain MRI showed an unilateral trigeminal nerve lesion, ipsilateral to the facial dysmorphia. The results of this radiological study tend to prove the primary role of the trigeminal nerve in craniofacial growth. These cases demonstrate the validity of the theory of Moss. They are one of anatomo-functional justifications of the three-dimensional cephalometric biometry of Treil based on trigeminal nerve landmarks. © EDP Sciences, SFODF, 2015.

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients.

Science.gov (United States)

Colombi, M; Dordoni, C; Venturini, M; Ciaccio, C; Morlino, S; Chiarelli, N; Zanca, A; Calzavara-Pinton, P; Zoppi, N; Castori, M; Ritelli, M

2017-12-01

Classical Ehlers-Danlos syndrome (cEDS) is characterized by marked cutaneous involvement, according to the Villefranche nosology and its 2017 revision. However, the diagnostic flow-chart that prompts molecular testing is still based on experts' opinion rather than systematic published data. Here we report on 62 molecularly characterized cEDS patients with focus on skin, mucosal, facial, and articular manifestations. The major and minor Villefranche criteria, additional 11 mucocutaneous signs and 15 facial dysmorphic traits were ascertained and feature rates compared by sex and age. In our cohort, we did not observe any mandatory clinical sign. Skin hyperextensibility plus atrophic scars was the most frequent combination, whereas generalized joint hypermobility according to the Beighton score decreased with age. Skin was more commonly hyperextensible on elbows, neck, and knees. The sites more frequently affected by abnormal atrophic scarring were knees, face (especially forehead), pretibial area, and elbows. Facial dysmorphism commonly affected midface/orbital areas with epicanthal folds and infraorbital creases more commonly observed in young patients. Our findings suggest that the combination of ≥1 eye dysmorphism and facial/forehead scars may support the diagnosis in children. Minor acquired traits, such as molluscoid pseudotumors, subcutaneous spheroids, and signs of premature skin aging are equally useful in adults. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Neuro-ophthalmological approach to facial nerve palsy.

Science.gov (United States)

Portelinha, Joana; Passarinho, Maria Picoto; Costa, João Marques

2015-01-01

Facial nerve palsy is associated with significant morbidity and can have different etiologies. The most common causes are Bell's palsy, Ramsay-Hunt syndrome and trauma, including surgical trauma. Incidence varies between 17 and 35 cases per 100,000. Initial evaluation should include accurate clinical history, followed by a comprehensive investigation of the head and neck, including ophthalmological, otological, oral and neurological examination, to exclude secondary causes. Routine laboratory testing and diagnostic imaging is not indicated in patients with new-onset Bell's palsy, but should be performed in patients with risk factors, atypical cases or in any case without resolution within 4 months. Many factors are involved in determining the appropriate treatment of these patients: the underlying cause, expected duration of nerve dysfunction, anatomical manifestations, severity of symptoms and objective clinical findings. Systemic steroids should be offered to patients with new-onset Bell's palsy to increase the chance of facial nerve recovery and reduce synkinesis. Ophthalmologists play a pivotal role in the multidisciplinary team involved in the evaluation and rehabilitation of these patients. In the acute phase, the main priority should be to ensure adequate corneal protection. Treatment depends on the degree of nerve lesion and on the risk of the corneal damage based on the amount of lagophthalmos, the quality of Bell's phenomenon, the presence or absence of corneal sensitivity and the degree of lid retraction. The main therapy is intensive lubrication. Other treatments include: taping the eyelid overnight, botulinum toxin injection, tarsorrhaphy, eyelid weight implants, scleral contact lenses and palpebral spring. Once the cornea is protected, longer term planning for eyelid and facial rehabilitation may take place. Spontaneous complete recovery of Bell's palsy occurs in up to 70% of cases. Long-term complications include aberrant regeneration with

Oral features and dental health in Hurler Syndrome following hematopoietic stem cell transplantation.

LENUS (Irish Health Repository)

McGovern, Eleanor

2012-02-01

BACKGROUND: Hurler Syndrome is associated with a deficiency of a specific lysosomal enzyme involved in the degradation of glycosaminoglycans. Hematopoietic stem cell transplantation (HSCT) in early infancy is undertaken to help prevent the accumulation of glycosaminoglycans and improve organ function. AIM: To investigate the oral features and dental health of patients with Hurler Syndrome who have undergone successful HSCT. MATERIALS AND METHODS: Twenty-five patients (median age 8.6 years) post-HSCT (mean age 9.4 months) underwent oral assessment (mean of 7.5 years post-HSCT). RESULTS: Dental development was delayed. Numerous occlusal anomalies were noted including: open-bite, class III skeletal base, dental spacing, primary molar infra-occlusion and ectopic tooth eruption. Dental anomalies included hypodontia, microdontia, enamel defects, thin tapering canine crowns, pointed molar cusps, bulbous molar crowns and molar taurodontism. Tooth roots were usually short\\/blunted\\/spindle-like in permanent molars. The prevalence of dental caries was low in the permanent dentition (mean DMFT 0.7) but high in the primary dentition (mean dmft 2.4). Oral hygiene instruction with plaque and or calculus removal was indicated in 71% of those that were dentate. CONCLUSION: Patients with Hurler Syndrome post-HSCT are likely to have delayed dental development, a malocclusion, and dental anomalies, particularly hypodontia and microdontia.

Oral Rehabilitation with Implant-Retained Overdenture in a Patient with Down Syndrome.

Science.gov (United States)

Altintas, Nuray Yilmaz; Kilic, Serdar; Altintas, Subutay Han

2017-01-24

Down syndrome, known as trisomy 21, is the most common chromosomal disorder. The disorder affects mental and systemic development as well as oral structure, including dental anomalies, high susceptibility of periodontal disease, and poor quality of alveolar bone. This report presents a case of dental rehabilitation by means of dental implants of a patient with Down syndrome. Two titanium dental implants were placed in the maxilla, and three titanium dental implants were installed in the mandible. One implant was lost during the osseointegration period. The prosthetic rehabilitation was performed with implant-retained maxillary and mandibular overdentures with the Locator attachment system. After a 2-year follow-up period, the patient was doing well, and all implants were clinically stable with no signs of bone loss or inflammation. The present study emphasizes that implant-retained overdentures with Locator attachment system could be a therapeutic option even for patients with Down syndrome. This therapy prevents crestal bone loss around the implants, improves functional and esthetic outcomes, and provides optimum oral hygiene for patients with mild mental impairment. Careful patient selection and education of patients and caregivers are essential considerations for a successful and safe treatment with dental implants in Down syndrome patients. © 2017 by the American College of Prosthodontists.

Fatty emaciation: a case report of suspected fat overload syndrome in oral refeeding.

Science.gov (United States)

Macher, Arielle D; Palazuelos, Daniel; Maviglia, Saverio M

2012-07-01

Refeeding syndrome has been observed in patients receiving nutrition after a prolonged period of malnourishment and is characterized by multiple metabolic derangements. Besides hypophosphatemia and hypoglycemia, lipemia has been described in association with parenteral nutrition administration to the malnourished. The authors describe one anorexic patient who developed lipemia during oral refeeding, followed by a precipitous drop in hematocrit suggestive of fat overload syndrome.

Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father.

Science.gov (United States)

Loupe, Jacob; Sampath, Srirangan; Lacassie, Yves

2014-10-01

We report an African-American family that was identified after the proposita was referred for diagnostic evaluation at 4½ months with a history of Hirschsprung and dysmorphic features typical of Waardenburg syndrome (WS). Family evaluation revealed that the father had heterochromidia irides and hypertelorism supporting the clinical diagnosis of WS; however, examination of the mother revealed characteristic facial and digital features of Coffin-Lowry syndrome (CLS). Molecular testing of the mother identified a novel 2 bp deletion (c.865_866delCA) in codon 289 of RPS6KA3 leading to a frame-shift and premature termination of translation 5 codons downstream (NM_004586.2:p.Gln289ValfsX5). This deletion also was identified in the proposita and her three sisters with a clinical suspicion of CLS, all of whom as carriers for this X-linked disorder had very subtle manifestations. The molecular confirmation of WS type 4 (Shah-Waardenburg; WS4) was not as straightforward. To evaluate WS types 1-4, multiple sequential molecular tests were requested, including Sanger sequencing of all exons, and deletion/duplication analysis using MLPA for PAX3, MITF, SOX10, EDN3 and EDNRB. Although sequencing did not identify any disease causing variants, MLPA identified a heterozygous deletion of the entire EDNRB in the father. This deletion was also found in the proposita and the oldest child. Since the heterozygous deletion was the only change identified in EDNRB, this family represents one of the few cases of an autosomal dominant inheritance of WS4 involving the endothelin pathway. Altogether, clinical evaluation of the family revealed one child to be positive for WS4 and two positive for CLS, while two children were positive for both diseases simultaneously (including the proposita) while another pair test negative for either disease. This kinship is an example of the coincidence of two conditions co-segregating in one family, with variable phenotypes requiring molecular testing to

The neuropathology of hereditary congenital facial palsy vs Mobius syndrome.

NARCIS (Netherlands)

Verzijl, H.T.F.M.; Zwaag, B. van der; Lammens, M.M.Y.; Donkelaar, H.J. ten; Padberg, G.W.A.M.

2005-01-01

OBJECTIVE: To characterize the neuropathology of hereditary congenital facial palsy. METHODS: The authors compared brainstem pathology of three members of one family with autosomal dominant congenital facial palsy to that in three age-matched controls. The neuropathologic findings of the familial

A cross-sectional analysis of the prevalence of tooth agenesis and structural dental anomalies in association with cleft type in non-syndromic oral cleft patients.

Science.gov (United States)

Konstantonis, Dimitrios; Alexandropoulos, Alexandros; Konstantoni, Nikoleta; Nassika, Maria

2017-12-01

The aim of this study was to investigate the prevalence of tooth agenesis, microdontia, and tooth malformation among non-syndromic oral cleft patients and their potential association with cleft type and gender. Intraoral records and radiographs of 154 patients (97 males and 57 females) were examined. The variables assessed were tooth agenesis, microdontia, dental malformations, and cleft types. The statistics included chi-square and Fisher's exact tests as well as logistic regression to assess any mutual effects of gender and cleft type on the dental variables. Tooth agenesis occurred in 50% of the sample and microdontia in 18%. Non-statistically significant odds ratios for the association of gender and cleft type with tooth agenesis were obtained. Tooth agenesis was substantially higher at the unilateral right CL + P and the bilateral CL + P in quadrant 1 and at the unilateral left CL + P and bilateral CL + P in quadrant 2. It was also higher, at the isolated cleft palate (CP) in quadrants 3 and 4. These results were attributed to teeth 22 (31.8%) and 12 (21.6%) in the maxilla and to teeth 35 (6.1%) and 45 (5.4%) in the mandible. In unilateral CL + P patients, the cleft quadrant that presented tooth agenesis was associated with the side of the cleft. Interdisciplinary treatment of the oral cleft patients should take into consideration the high prevalence of tooth agenesis and their association with the different cleft types. The most frequently affected teeth by cleft are by far the upper lateral incisors. Results indicate that tooth agenesis appears to be a genetically controlled anomaly related to the orofacial cleft development through various genetic links and not caused by the cleft disruptive process.

Oral manifestations of McCune-Albright syndrome

Directory of Open Access Journals (Sweden)

Konidena Aravinda

2013-01-01

Full Text Available McCune- Albright Syndrome (MAS is a rare fibrosseous lesion, characterized by a classic triad of polyostotic fibrous dysplasia (PFD, cafι -au-lait macules (CALM and underlying endocrinopathies. We present the oral findings of an interesting case of MAS with relevant review of literature. A 30-year-old male presented to us with swelling of both jaws over a period of two years. Cutaneous examination revealed cafι - au - lait macule over the back, crossing the midline. Skeletal survey showed expansile, osteolytic, mixed radiolucent- radiopaque lesions in skull and jaw bones. Serum alkaline phosphatase was elevated (388 IU/L, with normal calcium, phosphorus, parathyroid hormone and 25 hydroxy vitamin D levels. Diagnosis of McCune- Albright syndrome was made and he was treated with parenteral bisphosphonates (intravenous Zoledronate 4 mg and is under follow up for surgical recontouring of the jaws. Early recognition facilitates better treatment and improves prognosis by reducing the morbidity.

Diferential diagnosis in atypical facial pain: a clinical study Diagnóstico diferencial em dor facial atípica: estudo clínico

Directory of Open Access Journals (Sweden)

José Cláudio Marinho Nóbrega

2007-06-01

Full Text Available OBJETIVE: To evaluate a sample of patients with atypical facial pain (AFP in comparison to patients with symptomatic facial pain (SFP. METHOD: 41 patients with previous diagnostic of AFP were submitted to a standardized evaluation protocol, by a multidisciplinary pain team. RESULTS: 21 (51.2% were considered AFP and 20 (48.8% (SFP received the following diagnosis: 8 (40.0% had temporomandibular disorders (TMD; 3 (15.0% had TMD associated to systemic disease (fibromyalgia, systemic erythematosus lupus; 4 (20.0% had neuropathy after ear, nose and throat (ENT surgery for petroclival tumor; 2 (10.0% had Wallenberg syndrome; 1 (5.0% had intracranial tumor; 1 (5.0% had oral cancer (epidermoid carcinoma, and 1 (5.0% had burning mouth syndrome (BMS associated to fibromyalgia. Spontaneous descriptors of pain were not different between AFP and SFP groups (p=0.82. Allodynia was frequent in SFP (p=0.05 and emotion was the triggering factor most prevalent in AFP (p=0.06. AFP patients had more traumatic events previously to pain (p=0.001. CONCLUSION: AFP patients had more: a traumatic events previously to pain onset, and b emotions as a triggering factor for pain. These data support the need of trained health professionals in multidisciplinary groups for the accurate diagnosis and treatment of these patients.OBJETIVO: Avaliar uma amostra de pacientes com dor facial atípica (DFA e compará-la a outra com dor facial sintomática (DFS. MÉTODO: 41 pacientes com diagnóstico prévio de DFA foram submetidos a um protocolo padronizado de avaliação aplicado por uma equipe multidisciplinar. RESULTADOS: 21 (51,2% foram mantidos com o diagnóstico de DFA e 20 (48,8% (DFS receberam os seguintes diagnósticos: 8 (40.0% tinham disfunções temporomandibulares (DTM; 3 (15,0% tinham DTM associada a doença sistêmica (fibromialgia, lupus eritematoso sistêmico; 4 (20,0% tinham neuropatia após cirurgia otorrinolaringológica (ORL para tumor petroclival; 2 (10,0% tinham s

The Benefit of Orthographic Support for Oral Vocabulary Learning in Children with Down Syndrome

Science.gov (United States)

Mengoni, Sylvana E.; Nash, Hannah; Hulme, Charles

2013-01-01

Children with Down syndrome typically have weaknesses in oral language, but it has been suggested that this domain may benefit from learning to read. Amongst oral language skills, vocabulary is a relative strength, although there is some evidence of difficulties in learning the phonological form of spoken words. This study investigated the effect…

Overview of Facial Plastic Surgery and Current Developments

Science.gov (United States)

Chuang, Jessica; Barnes, Christian; Wong, Brian J. F.

2016-01-01

Facial plastic surgery is a multidisciplinary specialty largely driven by otolaryngology but includes oral maxillary surgery, dermatology, ophthalmology, and plastic surgery. It encompasses both reconstructive and cosmetic components. The scope of practice for facial plastic surgeons in the United States may include rhinoplasty, browlifts, blepharoplasty, facelifts, microvascular reconstruction of the head and neck, craniomaxillofacial trauma reconstruction, and correction of defects in the face after skin cancer resection. Facial plastic surgery also encompasses the use of injectable fillers, neural modulators (e.g., BOTOX Cosmetic, Allergan Pharmaceuticals, Westport, Ireland), lasers, and other devices aimed at rejuvenating skin. Facial plastic surgery is a constantly evolving field with continuing innovative advances in surgical techniques and cosmetic adjunctive technologies. This article aims to give an overview of the various procedures that encompass the field of facial plastic surgery and to highlight the recent advances and trends in procedures and surgical techniques. PMID:28824978

Ehlers-Danlos syndrome

Directory of Open Access Journals (Sweden)

Wakhloo Tulika

2015-01-01

Full Text Available Ehlers-Danlos syndrome is a group of clinically and genetically heterogeneous inherited connective tissue disorders with widespread manifestations. The prevalence of this syndrome is 1:5000 worldwide without gender, racial or ethnic associations. This syndrome is characterized by joint hypermobility, dermal hyperelasticity and tissue fragility caused by mutations in genes encoding collagen type I, III, V and enzymes involved in the posttranslational modifications of collagen. The oral manifestations include increased mucosal fragility, delayed wound healing, early onset generalized periodontitis and temporomandibular joint hypermobility. Children presenting with this syndrome are often misdiagnosed for hematological problem as they present with bruising, malignancy and/or child abuse. A thorough assessment of the patient is, therefore, essential for early diagnosis and patient referral. This paper reviews current literature, oral manifestations, diagnostic investigations and effective dental management.

Head, Neck, and Oral Cancer

Medline Plus

Full Text Available ... Contact Find a Surgeon What We Do Anesthesia Anesthesia Oral and maxillofacial surgeons are extensively trained to ... and Facial Pain Wisdom Teeth Management Procedures Anesthesia Anesthesia Oral and maxillofacial surgeons are extensively trained to ...

Perception of facial profile attractiveness by a Saudi sample

International Nuclear Information System (INIS)

Talic, Nabeel; Alshakhs, Mohammad S.

2008-01-01

Previous studies have reported different levels of perception of attractiveness among different ethnicities and among varying education-level groups on facial profile rating.To study the perception of facial profile attractiveness among Saudi dentists and lay-individuals. Digital facial profile images with altered degree of prognathism and retrognathism were presented to a sample of 60 Saudi dentists and 60 lay-persons with equal gender distribution. High reliability of repeated assessment of profile images was detected (ICC=0.982). Significant difference in perception of facial profile was found between genders (P<0.05) and among the groups with different education backgrounds (P<0.001). General agreement was established in both sample groups on average facial profile to be the most attractive and on the most retrognathic profile to be the least attractive. (author)

Hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

Science.gov (United States)

Maridet, Claire; Sole, Guilhem; Morice-Picard, Fanny; Taieb, Alain

2016-06-01

RASopathies comprise several genetic syndromes with mainly cardio-facial-cutaneous manifestations. We report a patient with Noonan syndrome with multiple lentigines (NSML) due to a PTPN11 (p.Thr468Met) mutation associated with hypertrophic neuropathy of lumbar plexus in an adult woman, initially referred for neuropathic pain. Differential diagnosis of neurofibromatosis type 1 (NF1) and other RASopathies is difficult without molecular testing. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Oral health considerations in a patient with oligosymptomatic ectrodactyly-ectodermal dysplasia-cleft syndrome.

Science.gov (United States)

Sharma, Gaurav; Nagpal, Archna

2017-01-01

Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome-a complex, pleiotropic disorder resulting in multiple congenital anomalies-has an unpredictable clinical expression and is typically manifested as an autosomal-dominant trait. This article presents a rare case of oligosymptomatic EEC syndrome in a 19-year-old man who exhibited atypical dental findings but no cleft lip or palate. This article is intended to create awareness about this rare syndrome and highlight the role of oral healthcare specialists in improving the quality of life for patients with EEC.

Dermatological Feasibility of Multimodal Facial Color Imaging Modality for Cross-Evaluation of Facial Actinic Keratosis

Science.gov (United States)

Bae, Youngwoo; Son, Taeyoon; Nelson, J. Stuart; Kim, Jae-Hong; Choi, Eung Ho; Jung, Byungjo

2010-01-01

Background/Purpose Digital color image analysis is currently considered as a routine procedure in dermatology. In our previous study, a multimodal facial color imaging modality (MFCIM), which provides a conventional, parallel- and cross-polarization, and fluorescent color image, was introduced for objective evaluation of various facial skin lesions. This study introduces a commercial version of MFCIM, DermaVision-PRO, for routine clinical use in dermatology and demonstrates its dermatological feasibility for cross-evaluation of skin lesions. Methods/Results Sample images of subjects with actinic keratosis or non-melanoma skin cancers were obtained at four different imaging modes. Various image analysis methods were applied to cross-evaluate the skin lesion and, finally, extract valuable diagnostic information. DermaVision-PRO is potentially a useful tool as an objective macroscopic imaging modality for quick prescreening and cross-evaluation of facial skin lesions. Conclusion DermaVision-PRO may be utilized as a useful tool for cross-evaluation of widely distributed facial skin lesions and an efficient database management of patient information. PMID:20923462

The digital transformation of oral health care. Teledentistry and electronic commerce.

Science.gov (United States)

Bauer, J C; Brown, W T

2001-02-01

Health care is being changed dramatically by the marriage of computers and telecommunications. Implications for hospitals and physicians already have received extensive media attention, but comparatively little has been said about the impact of information technology on dentistry. This article illustrates how the digital transformation will likely affect dentists and their patients. Based on recent experiences of hospitals and medical practices, dentists can expect to encounter revolutionary changes as a result of the digital transformation. The Internet, the World Wide Web and other developments of the information revolution will redefine patient care, referral relationships, practice management, quality, professional organizations and competition. To respond proactively to the digital transformation of oral health care, dentists must become familiar with its technologies and concepts. They must learn what new information technology can do for them and their patients and then develop creative applications that promote the profession and their approaches to care.

Olmsted Syndrome

Directory of Open Access Journals (Sweden)

Sirka C

1999-01-01

Full Text Available A 20-year-old Sikh man had palmoplantar keratoderma, flexion deformity of digits, universal alopecia, keratotic plaques at the angles of mouth, gluteal cleft, knees and dorsal aspects of the metacarpophalangeal joints of the hand; features of Olmsted syndrome. He had normal nails, teeth, oral mucosa and normal joint movements. Treatment with acitretin, 25mg/day for three and a half months, followed by 25mg once daily alternating with 50mg once daily for 3 months resulted in significant improvement.

Ellis-van Creveld syndrome with unusual oral and dental findings: A rare clinical entity

Directory of Open Access Journals (Sweden)

Sameeulla Shaik

2016-01-01

Full Text Available Ellis-van Creveld (EVC syndrome, a form of skeletal and chondroectodermal dysplasia, is an autosomal recessive disorder characterized by a tetrad of disproportionate dwarfism, postaxial polydactyly, ectodermal dysplasia, and heart defects. In the present article, we hereby present a case of a 13-year-old girl of Indian ethnicity with EVC syndrome with a remarkable number of classical oral and dental features, with unusual findings such as taurodontism and talons cusp. Such dental findings were reported in few cases only. Despite the fact that oral manifestations play an important role in the diagnosis of EVC, only a few detailed reports have been published in the dental literature.

[Removable partial dentures. Oral functions and types

NARCIS (Netherlands)

Creugers, N.H.J.; Baat, C. de

2009-01-01

A removable partial denture enables the restoration or improvement of 4 oral functions: aesthetics, mandibular stability, mastication, and speech. However, wearing a removable partial denture should not cause oral comfort to deteriorate. There are 3 types of removable partial dentures: acrylic

Median mandibular flexure at different mouth opening and its relation to different facial types: A prospective clinical study

Science.gov (United States)

Prasad, Mandava; Hussain, Mohammed Z.; Shetty, Sharath K.; Kumar, T. Ashok; Khaur, Mohit; George, Suja A.; Dalwai, Sameen

2013-01-01

Objective: To measure the arch width and Median mandibular flexure (MMF) values at relative rest and maximum jaw opening in young adults with Dolichofacial, Mesofacial, and Brachyfacial types and tested whether the variation in the facial pattern is related to the MMF values in South Indian population. Materials and Methods: This Prospective clinical study consisted of sample of 60 young adults. The subjects were grouped into 3 groups: Group 1: Brachyfacial, Group 2: Mesofacial and types, Group 3: Dolichofacial. Impressions were taken for all the 60 subjects and the casts were scanned and digitized. The intermolar width was measured for Dolichofacial, Mesofacial, and Brachyfacial subjects at relative rest (R) and maximum opening (O). Results: The statistical analysis of the observations included Descriptive and Inferential statistics. The statistical analysis was executed by means of Sigma graph pad prism software, USA Version-4. Kruskal wallis (ANOVA) followed by Dunns post hoc test was performed. Mann Whitney U-test was performed to assess the difference in MMF values between Males and Females of the three groups. The Mean (SD) Mandibular flexure in individuals with Brachyfacial type was 1.12 (0.09), Mesofacial type was 0.69 (0.21), and Dolichofacial type was 0.39 (0.08). Conclusions: The Mean intermolar width was maximum in Brachyfacial type and minimum in Dolichofacial type. MMF was maximum at the maximum mouth opening position and was maximum in individuals with Brachyfacial type. PMID:24082745

Genetics Home Reference: branchio-oculo-facial syndrome

Science.gov (United States)

... face and neck. Its characteristic features include skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features. "Branchio-" refers to the branchial arches, which are structures in the developing embryo ...

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

Science.gov (United States)

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

OpenAIRE

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

Hallermann-Streiff syndrome

Directory of Open Access Journals (Sweden)

Jayakar Thomas

2013-01-01

Full Text Available Hallermann-Streiff syndrome (HSS is a rare disorder characterized by dyscephalia, with facial and dental abnormalities. We report a 12-year-old female child who presented with abnormal facial features, dental abnormalities and sparse scalp hair.

Effect of 12-month treatment with metformin and/or oral contraceptives on health-related quality of life in polycystic ovary syndrome.

Science.gov (United States)

Altinok, Magda Lambaa; Ravn, Pernille; Andersen, Marianne; Glintborg, Dorte

2018-04-16

Health-related quality of life (HRQoL) is impaired in polycystic ovary syndrome (PCOS), but the effect of treatment with metformin (M) and/or oral contraceptives (OCP) is undetermined. To assess changes in HRQoL during 12-month randomized treatment with M, OCP or M + OCP in PCOS. Ninety women with PCOS were randomized to treatment with M, OCP or M + OCP. HRQoL was evaluated by a PCOS-specific visual analog scale (PCOS-VAS) regarding 1: Facial hair, 2: Body hair, 3: Acne, 4: Irregular menses, 5: Weight and 6: PCOS in general, and Short Form 36 (SF-36). PCOS-VAS1(facial hair) improved during treatment with OCP (n = 23) compared to M (n = 19), and during M + OCP (n = 23) compared to M treatment, whereas changes in PCOS-VAS2-6 and SF-36 scores were comparable between the three medical intervention groups. Pooled data (n = 65) showed improved PCOS-VAS scores during treatment (all p PCOS-VAS were unassociated with changes in BMI or FG-scores despite significant weight-loss during treatment with M (-3.0 kg (-10.3; 0.6)) and M + OCP (-1.9 kg (-4.9; 0.1)) and decreased FG-score during M + OCP treatment (median (quartiles)). PCOS-VAS scores improved significantly and to the same extent during treatment with M, OCP or M + OCP.

Síndrome brânquio-óculo-facial (BOFS e cardiopatias congênitas Síndrome branquio óculo facial (BOFS y cardiopatías congénitas Branchio-oculo-facial syndrome (BOFS and congenital heart defects

Directory of Open Access Journals (Sweden)

Rafael Fabiano Machado Rosa

2009-02-01

Full Text Available Relatamos aqui o caso de um menino com 43 dias de vida, apresentando síndrome brânquio-óculo-facial (BOFS e cardiopatia congênita. Na avaliação clínica, ele possuía retardo de crescimento, pregas epicânticas, fendas palpebrais pequenas, telecanto, base nasal alargada, fenda labial falsa (pseudocleft, micrognatia, orelhas displásicas e rotadas posteriormente, fendas branquiais, pescoço curto e alado, mamilo extranumerário, hipotonia e reflexos tendinosos profundos diminuídos. A ecocardiografia verificou presença de um defeito do septo atrioventricular completo do tipo A e persistência do canal arterial. Essa descrição fortalece a possibilidade de que defeitos cardíacos congênitos possam fazer parte do espectro de anormalidades observado na BOFS.Relatamos en este estudio el caso de un niño con 43 días de vida, que presentaba síndrome branquio óculo facial (BOFS y cardiopatía congénita. En la evaluación clínica, revelaba retardo de crecimiento, pliegues epicánticos, hendiduras palpebrales pequeñas, telecanto, base nasal ensanchada, hendidura labial falsa (pseudocleft, micrognatia, orejas displásicas y rotadas posteriormente, hendiduras branquiales, cuello corto y alado, pezón extranumerario, hipotonía y reflejos tendinosos profundos diminuidos. La ecocardiografía verificó la presencia de un defecto del septo atrioventricular completo del tipo A y conducto arterial persistente. Dicha descripción fortalece la posibilidad de que defectos cardiacos congénitos puedan forman parte del espectro de anormalidades observado en la BOFS.We report the case of a 43-day-old boy with branchio-oculo-facial syndrome (BOFS and congenital heart defect. On clinical examination, he presented growth retardation, epicanthal folds, small palpebral fissures, telecanthus, broadened nasal bridge, lip pseudocleft, micrognathia, dysplastic and posteriorly-rotated ears, branchial clefts, short and webbed neck, supernumerary nipple, hypotonia

Perceptions of brachyfacial, mesofacial and dolichofacial individuals with regard to the buccal corridor in different facial types

Directory of Open Access Journals (Sweden)

Matheus Melo PITHON

2014-10-01

Full Text Available Objective: Evaluate the esthetic perception and attractiveness of the smile with regard to the buccal corridor in different facial types by brachyfacial, mesofacial and dolichofacial individuals. Material and Methods: The image of a smiling individual with a mesofacial type of face was changed to create three different facial types with five different buccal corridors (2%, 10%, 15%, 22% and 28%. To achieve this effect, a photo editing software was used (Adobe Photoshop, Adobe Systems Inc, San Francisco, CA, EUA. The images were submitted to evaluators with brachyfacial, mesofacial and dolichofacial types of faces, who evaluated the degree of esthetic perception and attractiveness by means of a visual analog scale measuring 70 mm. The differences between evaluators were verified by the Mann-Whitney test. All statistics were performed with a confidence level of 95%. Results: Brachyfacial individuals perceived mesofacial and dolichofacial types of faces with buccal corridor of 2% as more attractive. Mesofacial individuals perceived mesofacial and dolichofacial types of faces with buccal corridor of 2%, 10% and 15% as more attractive. Dolichofacial individuals perceived the mesofacial type of face with buccal corridor of 2% as more attractive. Evaluators of the female sex generally attributed higher scores than the male evaluators. Conclusion: To achieve an enhanced esthetic smile it is necessary to observe the patient’s facial type. The preference for narrow buccal corridors is an esthetic characteristic preferred by men and women, and wide buccal corridors are less attractive.

Oral features and computerized rehabilitation of a young patient with CHARGE syndrome using minimally invasive long-term interim CAD-CAM restorations.

Science.gov (United States)

Liebermann, Anja; Rafael, Caroline Freitas; Edelhoff, Daniel; Ramberger, Marc; Schweiger, Josef; Maziero Volpato, Claudia Angela; Saeidi Pour, Reza

2017-04-01

Patients with CHARGE syndrome (where CHARGE stands for coloboma of the iris or retina, heart defects or cardiac malformations, atresia/stenosis of the choanae, retardation of growth and development, genital anomalies, and ear abnormalities) present several orofacial anomalies. Their treatment depends on the specific type of manifestation. To perform the complex oral rehabilitation and achieve a conservative, esthetic, and functional exploration of the definitive treatment goal, computer-aided design and computer-aided manufacturing (CAD-CAM) polymers can be used as long-term interim restorations. This article reports the treatment of a young patient with CHARGE syndrome combined with oral alterations. CAD-CAM polymers offer an intermediate treatment with satisfying esthetics and function at low biological cost until bone growth is completed. This period facilitates additional planning for the definitive restoration. Copyright © 2016 Editorial Council for the Journal of Prosthetic Dentistry. Published by Elsevier Inc. All rights reserved.

Oral Rehabilitation and Management for Secondary Sjögren’s Syndrome in a Child

Directory of Open Access Journals (Sweden)

Tatiana Kelly da Silva Fidalgo

2016-01-01

Full Text Available The aim of this paper is to describe a rare case report of a pediatric patient with secondary Sjögren’s syndrome (SSS. A 12-year-old female child was referred to the Pediatric Dentistry Clinic with the chief complaint of tooth pain, dry mouth, and tooth sensibility. The patient was submitted to orthodontic treatment prior to syndrome diagnosis. The clinical treatment consisted of the interruption of orthodontic treatment and restoring the oral condition with dental treatment and the use of artificial saliva in an innovative apparatus. Dental therapy involved the control of dental caries, periodontal disease, and opportunistic fungal infections and the use of fluoride-rich solutions. The present clinical case describes clinical and laboratory aspects of SSS in pediatric patients. The management of the oral findings promoted an improvement in the oral health status and quality of life of the child.

Spontaneous Colon Perforations Associated with a Vascular Type of Ehlers-Danlos Syndrome

Directory of Open Access Journals (Sweden)

Akira Yoneda

2014-05-01

Full Text Available Ehlers-Danlos syndrome, vascular type (vEDS (MIM #130050 is an autosomal dominant disorder caused by mutation in the type III collagen gene, COL3A1, leading to fragility of blood vessels, bowel and uterus that leads to spontaneous rupture. We report a previously undiagnosed vEDS patient with bowel complications. A 20-year-old female patient was referred to our hospital with abdominal pain. Computed tomography showed notable dilatation of the sigmoid colon with intraperitoneal fluid. Laparotomy revealed dilatation of the sigmoid colon, breakdown of serosa and muscularis propria of the sigmoid colon with impending perforation, and intra-abdominal hemorrhage caused by breakdown of the mesenterium. Resection of the sigmoid colon with Hartmann's pouch and an end colostomy were performed. Physical examination showed joint hypermobility, translucent skin with venous prominence and facial structure abnormalities. Genetic analysis using cDNA extracted from the patient's fibroblasts by reverse transcriptase polymerase chain reaction direct sequencing showed a missense mutation within the triple helix region of COL3A1 (c.2150 G>A; Gly717Asp.

Medidas orofaciais em adolescentes do estado do Rio de Janeiro segundo a tipologia facial Orofacial measurements in teenagers from Rio de Janeiro State according to facial typology

Directory of Open Access Journals (Sweden)

Sheila Pereira de Castro Guedes

2010-02-01

Full Text Available OBJETIVO: verificar se há diferença entre as medidas orofaciais segundo o tipo facial. MÉTODOS: 39 adolescentes leucodermas entre 15 e 17 anos, de ambos os sexos, com dentição permanente e sem queixa ou histórico de tratamento fonoaudiológico. Utilizando um paquímetro digital CE ELECTRONIC mensurou-se a altura do lábio superior, inferior e filtro, terços superior, médio e inferior da face, assim como distância entre canto externo do olho e comissura labial em ambos os lados. RESULTADOS: considerando a variável tipologia facial houve diferença para a altura do lábio superior, filtro e terços superior e inferior da face. Não se observou diferença entre os tipos faciais para as medidas de altura do lábio inferior, terço médio da face e distância do canto externo do olho à comissura labial, em ambos os lados. CONCLUSÃO: na amostra estudada, a altura de lábio superior foi maior no dolicofacial que no mesofacial, a altura do filtro foi maior no dolicofacial que no braquifacial, o terço superior da face foi maior no mesofacial que nos demais tipos e o terço inferior foi maior no dolicofacial que no braquifacial.PURPOSE: to check if there is any difference among the orofacial measurements, according to the facial typology. METHODS: 39 leukoderm teenagers, aged between 15 -17-year old of both genders, with permanent dentition and with no history of speech and swallowing disorders or treatment. Using a digital instrument (CE ELECTRONIC, measures we carried out concerning length of the upper and lower lip and philtrum, thirds of the face as well of the sides of the face measures. RESULTS: considering the facial topology variable, there was a difference as for the length of the upper lip and philtrum and superior and inferior thirds of the face according to the facial type. We did not observe difference among the facial types as for the length of the lower lip and middle thirds of the face and the measures on both sides of the

Crouzon syndrome: a social stigma.

Science.gov (United States)

Pandey, Neelisha; Pandey, Ramesh Kumar; Singh, Rajeev Kumar; Shah, Naveen Kumar

2012-10-10

Crouzon syndrome is a rare genetic disorder caused due to genetic mutations. It is characterised by partial hearing loss, dry eyes, strabismus and underdevelopment of the upper jaw with facial deformities and malocclusion. These facial deformities greatly affect the social and emotional development of the affected child. The present case report highlights the social problems faced by a child suffering with Crouzon syndrome.

Reduction of digital errors of digital charge division type position-sensitive detectors

International Nuclear Information System (INIS)

Uritani, A.; Yoshimura, K.; Takenaka, Y.; Mori, C.

1994-01-01

It is well known that ''digital errors'', i.e. differential non-linearity, appear in a position profile of radiation interactions when the profile is obtained with a digital charge-division-type position-sensitive detector. Two methods are presented to reduce the digital errors. They are the methods using logarithmic amplifiers and a weighting function. The validities of these two methods have been evaluated mainly by computer simulation. These methods can considerably reduce the digital errors. The best results are obtained when both methods are applied. ((orig.))

Facial Muscle Coordination in Monkeys During Rhythmic Facial Expressions and Ingestive Movements

Science.gov (United States)

Shepherd, Stephen V.; Lanzilotto, Marco; Ghazanfar, Asif A.

2012-01-01

Evolutionary hypotheses regarding the origins of communication signals generally, and primate orofacial communication signals in particular, suggest that these signals derive by ritualization of noncommunicative behaviors, notably including ingestive behaviors such as chewing and nursing. These theories are appealing in part because of the prominent periodicities in both types of behavior. Despite their intuitive appeal, however, there are little or no data with which to evaluate these theories because the coordination of muscles innervated by the facial nucleus has not been carefully compared between communicative and ingestive movements. Such data are especially crucial for reconciling neurophysiological assumptions regarding facial motor control in communication and ingestion. We here address this gap by contrasting the coordination of facial muscles during different types of rhythmic orofacial behavior in macaque monkeys, finding that the perioral muscles innervated by the facial nucleus are rhythmically coordinated during lipsmacks and that this coordination appears distinct from that observed during ingestion. PMID:22553017

A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.

Science.gov (United States)

Li, Xuefu; Jiang, Miao; Han, Weitian; Zhao, Ning; Liu, Wei; Sui, Yu; Lu, Yongping; Li, Jianxin

2013-09-25

Distal arthrogryposes (DAs), a clinically and genetically heterogeneous group of disorders characterized by congenital contractures with predominant involvement of the hands and feet, can be classified into at least 12 different forms. These autosomal dominant disorders are of variable expressivity and reduced penetrance. Mutations in sarcomeric protein genes, including troponin I2 (TNNI2), troponin T3 (TNNT3), tropomyosin 2 (TPM2), embryonic myosin heavy chain 3 (MYH3), and myosin binding protein C1 (MYBPC1), have been identified in distal arthrogryposis type 1 (DA1, MIM 108120), type 2B (DA2B, MIM 601680) and type 2A (DA2A)/Freeman-Sheldon syndrome (FSS, MIM 193700). However, mutations causing FSS have only been reported in MYH3. Herein we describe a Chinese DA family whose members meet classical strict criteria for FSS, as well as one member of the family who has isolated facial features consistent with FSS. No disease-causing mutation was found in MYH3. Segregation of microsatellite markers flanking the TNNI2 and TNNT3 genes at 11p15.5 was compatible with linkage. Subsequent sequencing of TNNI2 revealed a novel mutation, c.A493T (p.I165F), located in the C-terminal region, which is critical for proper protein function. This mutation was found to cosegregate with the FSS phenotype in this family, and assessment using SIFT and PolyPhen-2 predicted a damaging effect. To the best of our knowledge, we report the first TNNI2 mutation in classical FSS and describe an atypical adult FSS case with only facial contractures resulting from somatic mosaicism. We infer that DA1, DA2B and FSS represent a phenotypic continuum of the same disorder and provide further genetic evidence for this hypothesis. © 2013.

MRI enhancement of the facial nerve with Gd-DTPA, 2

International Nuclear Information System (INIS)

Yanagida, Masahiro

1993-01-01

We performed enhanced MRI using Gd-DTPA in 84 patients with facial palsy. After assessing enhancement of the normal facial nerve, we examined enhancement in patients with Bell's palsy and Ramsay Hunt syndrome. In 95% of patients with Bell's palsy, enhancement was obtained in the distal IAC and labyrinthine portions. In 72%, enhancement was significant from the distal IAC portion through the vertical portion. In some of the patients who underwent enhanced MRI twice, increased signal intensity was observed in distal portions such as the vertical portion. In many cases of Ramsay Hunt syndrome, enhancement was seen extensively in the IAC portion through the vertical portion. In the subjects with internal auditory symptoms such as vertigo and tinnitus, enhancement of the IAC portion was seen not only in the facial nerve but also in the vestibular and the cochlear nerves. These results suggest that the vascular permeability of lesions in Bell's palsy may be increased from the distal IAC portion to the vertical portion. Judging from the present findings with Ramsay Hunt syndrome, symptoms related to the enhanced portions suggest that accompanying internal auditory symptoms occur due to inflammation of the IAC portions of cochlear and vestibular nerves. (author)

Genetics Home Reference: Ohdo syndrome, Maat-Kievit-Brunner type

Science.gov (United States)

... blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type BMRS, MKB type Ohdo syndrome, MKB type X-linked ... D, Brunner H, Bitoun P. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so- ...

Prevalence and relationship of human papilloma virus type 16 and type 18 with oral squamous cell carcinoma and oral leukoplakia in fresh scrappings: a PCR study.

Science.gov (United States)

Mathew, Asok; Mody, R N; Patait, Mahendra R; Razooki, Ali A; Varghese, Nisha T; Saraf, Kedar

2011-05-01

It has been always an area of diffuse clarity when you study malignancy and its pathogenesis. Recently, it has invited lot of interest among the researchers about the possibility of role of viruses in the initiation of carcinogenesis. Recent advances in the field of molecular biology and biotechnology have solved some problems with regard to pathogenesis. Human papilloma virus (HPV) and its role in the initiation of malignancy in the cervix is proven almost beyond doubt. The present study is aimed at the role of two types of HPV 16 and 18 in the initiation of oral premalignant and squamous cell carcinoma. The study also aims at using polymerase chain reaction (PCR) in finding out the prevalence of these types diagnosed histologically as oral leukoplakia and oral squamous cell carcinoma and prevalence of its association with the habit of tobacco use. In the present study, 45 patients having histopathologically confirmed oral squamous cell carcinoma in the age range of 32-85 years were selected along with 20 histopathologically confirmed oral leukoplakia in the age range 22-66 years. All the samples were subjected to polymerase chain reaction. The PCR reaction was carried out in PTC 200 thermo-cycler [MJ Research Inc, Watertown, MA, USA]. The site prevalence and co-infection rate of these two types of viruses are being analyzed using very simple non-invasive scrapings obtained from fresh scrapings and found to be really high. It was also observed that 73.3% (33/45) of the oral squamous cell carcinoma patients were positive for oral HPV type 16 while 71.1% (32/45) were positive for HPV type 18 infection and 57.7% (26/45) were found to have both HPV type 16 and HPV type 18 infections. HPV type 16, 18, and co-infection of both types showed high prevalence in oral squamous cell carcinoma.The prevalence of HPV type 18 was found to be higher than HPV type 16 and co-infection in oral leukoplakia. It was observed that the tongue and palate lesions in the oral squamous cell

Value of electroneurography as a prognostic indicator for recovery in acute severe inflammatory facial paralysis: a prospective study of Bell's palsy and Ramsay Hunt syndrome.

Science.gov (United States)

Byun, Hayoung; Cho, Yang-Sun; Jang, Jeon Yeob; Chung, Kyu Whan; Hwang, Soojin; Chung, Won-Ho; Hong, Sung Hwa

2013-10-01

To evaluate the prognostic and predictive value of electroneuronography (ENoG) in acute severe inflammatory facial paralysis, including Bell's palsy and Ramsay Hunt syndrome (RHS). Prospective observational study. Patients with acute severe facial paralysis of House-Brackmann (H-B) grade IV or worse and diagnosed with Bell's palsy or RHS were enrolled from August 2007 to July 2011. After treatment with oral corticosteroid, antiviral agent, and protective eye care, patients were followed up until recovery or 12 months from onset. Sixty-six patients with Bell's palsy and 22 with RHS were included. Multiple logistic regression analysis showed significant effect of ENoG value on recovery in both Bell's palsy and RHS. Values of ENoG were significantly worse in RHS than Bell's palsy. Chance of early recovery within 6 weeks after correction of ENoG effect was still significantly worse in RHS. Logistic regression analysis showed 90% chance of recovery within 6 months, expected with ENoG values of 69.2% degeneration (Bell's palsy) and 59.3% (RHS). The receiver operating characteristics (ROC) curves showed ENoG values of 82.5% (Bell's palsy) and 78.0% (RHS) as a critical cutoff value of nonrecovery until 1 year, with the best sensitivity and specificity. A higher chance of recovery was expected with better ENoG in Bell's palsy and RHS. Based on our data, nonrecovery is predicted in patients with ENoG value greater than 82.5% in Bell's palsy, and 78% in RHS. 4. Copyright © 2013 The American Laryngological, Rhinological and Otological Society, Inc.

Oral Health Condition and Treatment Needs of a Group of Nigerian Individuals with Down Syndrome

Science.gov (United States)

Oredugba, Folakemi A.

2007-01-01

Objective: This study was carried out to determine the oral health condition and treatment needs of a group of individuals with Down syndrome in Nigeria. Method: Participants were examined for oral hygiene status, dental caries, malocclusion, hypoplasia, missing teeth, crowding and treatment needs. Findings were compared with controls across age…

Skeletal types: key to unraveling the mystery of facial beauty and its biologic significance.

Science.gov (United States)

Jefferson, Y

1996-06-01

In random studies, some faces will deviate toward Type II skeletal and some toward Type III. Some will deviate toward a skeletally short vertical while some toward long. In their study, Langlois and Roggman digitized individual faces through a computer. As more and more faces were entered, the composite of these faces became more and more attractive. From this, they concluded that attractive faces are only average. The "average" face may very well conform to the divine proportion. However, some faces are strikingly beautiful, and Alley and Cunningham in their study attempted to explain these attributes. Individuals who are blessed with attractive features are treated differently in our society. Ackerman states, "Attractive people do better: in school, where they receive more help, better grades and less punishment; at work, where they are rewarded with higher pay, more prestigious jobs and faster promotions; in finding mates, where they tend to be in control of the relationship and make most of the decisions; and among strangers, who assume them to be more interesting, honest, virtuous and successful." Many would find this special treatment objectionable and unfair. The irony is that beautiful individuals make up a very small percentage of the population; they have very little power to dictate how society should act and behave. Various disciplines have studied the nature of facial beauty. Individually, they provide partial answers; however, when viewed together, they begin to weave provocative insights as to its biologic significance. It is intricately related to divine proportion, and all living creatures have the genetic potential to develop toward it. The appreciation for this proportion is primitive and inborn; it is a biologic mechanism by which all living creatures are attracted to potential mates who conform to this strict proportion because they are biologically strong, healthy, and fertile. To date, there is no other profession other than ours that has the

Pfeiffer syndrome type 2: case report

Directory of Open Access Journals (Sweden)

Maria Kiyoko Oyamada

Full Text Available OBJECTIVE: To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis. DESCRIPTION: The authors describe a newborn with cloverleaf skull, extreme bilateral exorbitism and choanal atresia, partial syndactyly of the second and third toes and broad medially-deviated big toes. The case reported was Pfeiffer Syndrome type 2, which usually has a poor prognosis. COMMENTS: Pfeiffer Syndrome is a clinically variable disorder and consists of an autosomal dominantly-inherited osteochondrodysplasia with craniosynostosis. It has been divided into three types. Type 1 is commonly associated with normal intelligence and generally good outcome. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death and sporadic occurrence. Potential for prolonged useful survival outcome can be achieved in some cases with early aggressive medical and surgical management according to recent literature.

Monoscopic photogrammetry to obtain 3D models by a mobile device: a method for making facial prostheses.

Science.gov (United States)

Salazar-Gamarra, Rodrigo; Seelaus, Rosemary; da Silva, Jorge Vicente Lopes; da Silva, Airton Moreira; Dib, Luciano Lauria

2016-05-25

The aim of this study is to present the development of a new technique to obtain 3D models using photogrammetry by a mobile device and free software, as a method for making digital facial impressions of patients with maxillofacial defects for the final purpose of 3D printing of facial prostheses. With the use of a mobile device, free software and a photo capture protocol, 2D captures of the anatomy of a patient with a facial defect were transformed into a 3D model. The resultant digital models were evaluated for visual and technical integrity. The technical process and resultant models were described and analyzed for technical and clinical usability. Generating 3D models to make digital face impressions was possible by the use of photogrammetry with photos taken by a mobile device. The facial anatomy of the patient was reproduced by a *.3dp and a *.stl file with no major irregularities. 3D printing was possible. An alternative method for capturing facial anatomy is possible using a mobile device for the purpose of obtaining and designing 3D models for facial rehabilitation. Further studies must be realized to compare 3D modeling among different techniques and systems. Free software and low cost equipment could be a feasible solution to obtain 3D models for making digital face impressions for maxillofacial prostheses, improving access for clinical centers that do not have high cost technology considered as a prior acquisition.

Ellis-van Creveld Syndrome: A Rare Clinical Report of Oral Rehabilitation by Interdisciplinary Approach

Directory of Open Access Journals (Sweden)

Talib Amin Naqash

2018-01-01

Full Text Available Ellis-van Creveld syndrome (EVC is a very rare genetic disorder that affects various tissues of ectodermal and mesodermal origin; patients with EVC present with typical oral deficiencies. The affected individuals are quite young at the time of oral evaluation. It is, therefore, important that these individuals are diagnosed and receive dental treatment at an early age for their physiologic and psychosocial well-being. Albeit there are numerous articles penned on the EVC, the treatise from an oral perspective is inadequate, covering only oral exhibitions and the preventive treatments. This article reviews the literature and serves as the first disquisition for oral rehabilitation of an EVC patient utilizing surgical, orthodontic, restorative, and prosthodontic management.

Nicolau syndrome due to hyaluronic acid injections.

Science.gov (United States)

Andre, Pierre; Haneke, Eckart

2016-08-01

Six cases of vascular compromise after hyaluronic injection are reported. Clinical symptoms realized a Nicolau syndrome, which is characterized by immediate pain, livedoid pattern and a few days later by the appearance of scabs and skin necrosis. This type of complication is rare, but may be dramatic and injectors must be aware of that. A thorough knowledge of facial anatomy is mandatory to avoid the risky facial areas. The use of a flexible cannula instead of a sharp needle has much less risk of hurting vessels and must be preferred. The support of the patient is discussed and a treatment protocol is proposed.

Three-dimensional facial digitization using advanced digital image correlation.

Science.gov (United States)

Nguyen, Hieu; Kieu, Hien; Wang, Zhaoyang; Le, Hanh N D

2018-03-20

Presented in this paper is an effective technique to acquire the three-dimensional (3D) digital images of the human face without the use of active lighting and artificial patterns. The technique is based on binocular stereo imaging and digital image correlation, and it includes two key steps: camera calibration and image matching. The camera calibration involves a pinhole model and a bundle-adjustment approach, and the governing equations of the 3D digitization process are described. For reliable pixel-to-pixel image matching, the skin pores and freckles or lentigines on the human face serve as the required pattern features to facilitate the process. It employs feature-matching-based initial guess, multiple subsets, iterative optimization algorithm, and reliability-guided computation path to achieve fast and accurate image matching. Experiments have been conducted to demonstrate the validity of the proposed technique. The simplicity of the approach and the affordable cost of the implementation show its practicability in scientific and engineering applications.

Oral manifestations and dental management of a child with Zellweger syndrome.

Science.gov (United States)

Lertsirivorakul, Jinda; Wongswadiwat, Malinee; Treesuwan, Panta

2014-01-01

Zellweger syndrome (ZS) is a rare autosomal recessive disorder, resulting from an impairment in peroxisome function. It is characterized by craniofacial dysmorphism and neurological abnormalities, and involves several systems, which may complicate dental and anesthesia management. The case of a 7-year-old girl diagnosed with ZS is described with emphasis on oral manifestations, oral rehabilitation under general anesthesia (GA), and home oral care. Apart from the unique features of ZS, she presented with clinodactyly, distinctive palatal vault, Class III malocclusion, missing teeth, microdontia, and delayed dental formation. Dental treatment under GA was conducted with concerns of risk of respiratory insufficiency. Oral home care by the parent and regular recall visits were essential to maintain good oral health. Children with ZS may survive into late childhood. They, however, present multiple health problems that are of special concern for not only the pediatric dentist but also the anesthesiologist. Collaboration with the medical team is essential for optimal care of these patients. ©2012 Special Care Dentistry Association and Wiley Periodicals, Inc.

Influence of a scheduled-waiting task on EMG reactivity and oral habits among facial pain patients and no-pain controls.

Science.gov (United States)

Nicholson, R A; Townsend, D R; Gramling, S E

2000-12-01

Recent research has strongly implicated the role of psychological stress in the development of temporomandibular disorders (TMD). It is widely reported that oral habits (e.g., teeth grinding) probably provide a behavioral link between stress and the development of TMD symptomatology. Extrapolation of research in the field of adjunctive behavior to the TMD disorders suggests that oral behaviors may develop conjointly with fixed-time (FT) stimulus presentation. The current experiment extended previous research examining this possibility by assessing the influence of experimental stress on masseter EMG and oral habits among persons who met broadband criteria for TMD and no-pain controls. Oral habit activity was assessed via self-report questionnaire whereas masseter muscle activity was measured continuously via electromyography across four phases (Adaptation, Free-Play, Scheduled-Play, Recovery). The Scheduled-Play phase was designed as a stress-reactivity task that included an FT schedule. Results indicated that, consistent with the stress-reactivity model, the Scheduled-Play phase resulted in a significant increase in masseter EMG levels relative to Free-Play and Adaptation, and that this effect was significantly larger for the TMD group relative to controls. The results suggest an adjunctive behavior effect although the effect was not specific to those with facial pain. Oral habit data showed a significant phase effect with oral habits that was significantly higher during the Scheduled-Play phase relative to Adaptation. The findings are the impetus for further study regarding the mechanisms whereby oral habits are developed and maintained despite their painful consequences.

Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones

Directory of Open Access Journals (Sweden)

Chih-Ping Chen

2017-12-01

Conclusion: Haploinsufficiency of FGFRL1 and TACC3 at 4p16.3 can be associated with bilateral cleft lip and palate of WHS facial dysmorphism and short long bones. Prenatal diagnosis of facial cleft with short long bones should raise a suspicion of chromosome microdeletion syndromes.

Lennox gastaut syndrome, review of the literature and a case report

Directory of Open Access Journals (Sweden)

Abu Saleh Tareq

2008-06-01

Full Text Available Abstract Background Lennox-Gastaut syndrome (LGS is a severe form of childhood epilepsy that is defined by generalized multiple type seizures, slowness of intellectual growth, and a specific EEG disturbance. Children affected might previously have infantile spasms or underlying brain disorder but etiology can be idiopathic. In South Africa, the incidence of secondary epilepsy is higher than what is found in developed countries resulting in higher incidence of the disease. LGS seizures are often treatment resistant and the long term prognosis is poor. Report A twenty six year old female, presented with anterior open bite, macroglossia, supragingival as well as subgingival calculus. The gingiva was red, swollen and friable and there was generalized bleeding and localized suppuration. The patient had gingival recession. After periodontal therapy a remarkable improvement in oral health status was noted. Conclusion The clinical findings in LGS included facial deformities, periodontitis and gingival swellings. Interdisciplinary treatment of these patients is fundamental and oral attention is of outstanding importance. Non-surgical periodontal therapy was effective in controlling periodontal disease in the reported case, but prevention of periodontal and dental diseases is preferable for this high-risk group of patients.

Per-oral endoscopic myotomy for esophageal achalasia in a case of Allgrove syndrome.

Science.gov (United States)

Nakamura, Jun; Hikichi, Takuto; Inoue, Haruhiro; Watanabe, Ko; Kikuchi, Hitomi; Takagi, Tadayuki; Suzuki, Rei; Sugimoto, Mitsuru; Konno, Naoki; Waragai, Yuichi; Asama, Hiroyuki; Takasumi, Mika; Sato, Yuki; Irie, Hiroki; Obara, Katsutoshi; Ohira, Hiromasa

2018-01-30

Allgrove syndrome, also known as Triple A syndrome, is a rare autosomal recessive genetic disease characterized by three signs: esophageal achalasia, adrenocorticotropic hormone refractoriness, and alacrima. A 31-year-old male presented to our hospital for treatment of difficulty swallowing caused by esophageal achalasia. Because he had complicating alacrima, a neurologic disease, and a family history of consanguineous marriage, a genetic neurologic disease was suspected. Then, a mutation in the achalasia-addisonianism-alacrima syndrome gene was identified. With the diagnosis of Allgrove syndrome, a per-oral endoscopic myotomy (POEM) was performed for esophageal achalasia. After the POEM, the symptoms and the esophageal pressure findings ameliorated quickly, with no recurrence noted throughout a follow-up of more than 1 year. Here, we report the first case of POEM performed for esophageal achalasia in Allgrove syndrome.

[Mutation screening of MITF gene in patients with Waardenburg syndrome type 2].

Science.gov (United States)

Chen, Jing; Yang, Shu-Zhi; Liu, Jun; Han, Bing; Wang, Guo-Jian; Zhang, Xin; Kang, Dong-Yang; Dai, Pu; Young, Wie-Yen; Yuan, Hui-Jun

2008-04-01

Warrgenburg syndrome type 2 (WS2) is the most common autosomal dominantly-inherited syndrome with hearing loss. MITF (microphthalmia associated transcription factor)is a basic-helix-loop-helix-luecine zipper (bHLHZip) factor which regulates expression of tyrosinase, and is involved in melanocyte differentiation. Mutations in MITF associated with WS2 have been identified in some but not all affected families. Here, we report a three-generation Chinese family with a point mutation in the MITF gene causing WS2. The proband exhibits congenital severe sensorineural hearing loss, heterochromia iridis and facial freckles. One of family members manifests sensorineural deafness, and the other patients show premature greying or/and freckles. This mutation, heterozygous deletion c.639delA, creates a stop codon in exon 7 and is predicted to result in a truncated protein lacking normal interaction with its target DNA motif. This mutation is a novel mutation and the third case identified in exon 7 of MITF in WS2. Though there is only one base pair distance between this novel mutation and the other two documented cases and similar amino acids change, significant difference is seen in clinical phenotype, which suggests genetic background may play an important role.

Facial Plexiform neurofibromatosis in a patient with neurofibromatosis type1: a case report

Directory of Open Access Journals (Sweden)

Iffat Hassan

2012-01-01

Full Text Available Plexiform neurofibroma is a poorly circumscribed, diffuse enlargement of neural sheets that typically involves major nerve trunks of the head and neck region because of the rich innervations of this area. It is a benign tumor and is a virtually pathognomonic and often disabling feature of neurofibromatosis type 1 (NF-1 or Von Recklinghausen’s disease. We hereby report a case of facial neurofibroma in an adult female with neurofibromatosis type 1 (NF-1.

Silver-Russell syndrome

Directory of Open Access Journals (Sweden)

Shohela Akhter

2016-08-01

Full Text Available Silver-Russell syndrome is clinically and genetically a heterogeneous disorder. In most of the cases, etiology is unknown, only in 10% cases defect in chromosome 7 is identified. It bas distinctive facial features and asymmetric limbs. Most predominant symptom is growth failure. A case of Silver-Russell syndrome reported here who presented with growth failure, hemihypertrophy ofleft side oftbe body, dysmorphic facial profile and difficulty in speech. Counseling was done with the parents regarding the etiology, progression and outcome of the disease.

"Less Than A Wife": A Study of Polycystic Ovary Syndrome Content in Teen and Women's Digital Magazines.

Science.gov (United States)

Sanchez, Ninive; Jones, Hillary

2016-06-02

Polycystic ovary syndrome (PCOS) is a major public health problem that affects women's physical and mental health. According to the US National Institutes of Health Office of Disease Prevention, there is a need to improve public awareness of the syndrome among health care providers and the public. Women's magazines are a type of "edutainment" that publish health content in addition to beauty, fashion, and entertainment content. These media have the potential to expose primarily female readers to content on PCOS and influence readers' beliefs and attitudes about women with PCOS. The objective of this study was to explore how digital (online) teen and women's magazines portray women with PCOS. We used data from the Alliance for Audited Media to identify popular digital teen and women's magazines with circulation rates ≥1,000,001. We also included magazines with circulation rates 100,001-1,000,000 directed toward racial and ethnic minority readers. A search of magazine websites over a 1-month period in 2015 yielded 21 magazines (eg, Glamour, Cosmopolitan en Español, Essence, and O, The Oprah Magazine) and 170 articles containing "PCOS" and "polycystic ovary syndrome." Textual analysis using a grounded theory approach was used to identify themes. Articles depicted PCOS symptoms as a hindrance to women's social roles as wives and mothers and largely placed personal responsibility on women to improve their health. To a lesser extent, women were depicted as using their personal experience with PCOS to advocate for women's health. Experiences of Latina and African American women and adolescents with PCOS were absent from women's magazine articles. The findings can inform health education programs that teach women to be critical consumers of PCOS-related content in digital women's magazines. Future research on PCOS content in digital teen and women's magazines can help researchers, patients, and consumer groups engage with the media to increase public awareness of PCOS.

Hennekam lymphangiectasia syndrome

OpenAIRE

Lakshminarayana, G.; Mathew, A.; Rajesh, R.; Kurien, G.; Unni, V. N.

2011-01-01

Hennekam lymphangiectasia syndrome is a rare disorder comprising of intestinal and renal lymphangiectasia, dysmorphic facial appearance and mental retardation. The facial features include hypertelorism with a wide, flat nasal bridge, epicanthic folds, small mouth and small ears. We describe a case of a multigravida with bad obstetric history and characteristic facial and dental anomalies and bilateral renal lymphangiectasia. To our knowledge this is the first case of Hennekam lymphangiectasia...

Common and distinct neural correlates of facial emotion processing in social anxiety disorder and Williams syndrome: A systematic review and voxel-based meta-analysis of functional resonance imaging studies.

Science.gov (United States)

Binelli, C; Subirà, S; Batalla, A; Muñiz, A; Sugranyés, G; Crippa, J A; Farré, M; Pérez-Jurado, L; Martín-Santos, R

2014-11-01

Social Anxiety Disorder (SAD) and Williams-Beuren Syndrome (WS) are two conditions which seem to be at opposite ends in the continuum of social fear but show compromised abilities in some overlapping areas, including some social interactions, gaze contact and processing of facial emotional cues. The increase in the number of neuroimaging studies has greatly expanded our knowledge of the neural bases of facial emotion processing in both conditions. However, to date, SAD and WS have not been compared. We conducted a systematic review of functional magnetic resonance imaging (fMRI) studies comparing SAD and WS cases to healthy control participants (HC) using facial emotion processing paradigms. Two researchers conducted comprehensive PubMed/Medline searches to identify all fMRI studies of facial emotion processing in SAD and WS. The following search key-words were used: "emotion processing"; "facial emotion"; "social anxiety"; "social phobia"; "Williams syndrome"; "neuroimaging"; "functional magnetic resonance"; "fMRI" and their combinations, as well as terms specifying individual facial emotions. We extracted spatial coordinates from each study and conducted two separate voxel-wise activation likelihood estimation meta-analyses, one for SAD and one for WS. Twenty-two studies met the inclusion criteria: 17 studies of SAD and five of WS. We found evidence for both common and distinct patterns of neural activation. Limbic engagement was common to SAD and WS during facial emotion processing, although we observed opposite patterns of activation for each disorder. Compared to HC, SAD cases showed hyperactivation of the amygdala, the parahippocampal gyrus and the globus pallidus. Compared to controls, participants with WS showed hypoactivation of these regions. Differential activation in a number of regions specific to either condition was also identified: SAD cases exhibited greater activation of the insula, putamen, the superior temporal gyrus, medial frontal regions and

Why Is Oral Health Important for Men?

Science.gov (United States)

... chronic pain, loss of function, irreparable facial and oral disfigurement following surgery and even death. More than 8,000 people die each year from oral and pharyngeal diseases. If you use tobacco, it ...

[Mania associated with Usher syndrome type II].

Science.gov (United States)

Praharaj, Samir Kumar; Acharya, Mahima; Sarvanan, Arul; Kongasseri, Sreejayan; Behere, Rishikesh V; Sharma, P S V N

2012-01-01

Usher syndrome (or Hallgren syndrome) is an autosomal recessive genetic disorder characterized by sensorineural deafness, retinitis pigmentosa, and variable vestibular deficit; Usher syndrome type II is the most common form. Various neuropsychiatric disorders have been reported to occur in those with Usher syndrome, including schizophrenia-like disorder, atypical psychosis, recurrent depressive illness, neurotic disorder, and mental retardation; however, bipolar disorder is not common in those with Usher syndrome. Herein we describe a 30-year-old male with Usher syndrome type II that developed features indicative of a probable manic episode. The patient had complete remission of symptoms in response to treatment with olanzapine 20 mg d-1. In persons with dual sensory impairment there are inherent problems with assessment and diagnosis is difficult due to their limited communication abilities. The diagnosis of Usher syndrome depends heavily on behavioral observation and disturbances in vegetative functions.

The spectrum of Mobius syndrome: an electrophysiological study.

NARCIS (Netherlands)

Verzijl, H.T.F.M.; Padberg, G.W.A.M.; Zwarts, M.J.

2005-01-01

We studied the nature and extent of facial muscle innervation and the involvement of the motor and sensory long tracts in Mobius syndrome, in order to shed light on the pathophysiological mechanism of the syndrome. Standardized blink reflexes, direct responses of the facial nerves to the orbicularis

Natural course of visual field loss in patients with Type 2 Usher syndrome.

Science.gov (United States)

Fishman, Gerald A; Bozbeyoglu, Simge; Massof, Robert W; Kimberling, William

2007-06-01

To evaluate the natural course of visual field loss in patients with Type 2 Usher syndrome and different patterns of visual field loss. Fifty-eight patients with Type 2 Usher syndrome who had at least three visual field measurements during a period of at least 3 years were studied. Kinetic visual fields measured on a standard calibrated Goldmann perimeter with II4e and V4e targets were analyzed. The visual field areas in both eyes were determined by planimetry with the use of a digitalizing tablet and computer software and expressed in square inches. The data for each visual field area measurement were transformed to a natural log unit. Using a mixed model regression analysis, values for the half-life of field loss (time during which half of the remaining field area is lost) were estimated. Three different patterns of visual field loss were identified, and the half-life time for each pattern of loss was calculated. Of the 58 patients, 11 were classified as having pattern type I, 12 with pattern type II, and 14 with pattern type III. Of 21 patients whose visual field loss was so advanced that they could not be classified, 15 showed only a small residual central field (Group A) and 6 showed a residual central field with a peripheral island (Group B). The average half-life times varied between 3.85 and 7.37 for the II4e test target and 4.59 to 6.42 for the V4e target. There was no statistically significant difference in the half-life times between the various patterns of field loss or for the test targets. The average half-life times for visual field loss in patients with Usher syndrome Type 2 were statistically similar among those patients with different patterns of visual field loss. These findings will be useful for counseling patients with Type 2 Usher syndrome as to their prognosis for anticipated visual field loss.

[Atypical manifestations in familial type 1 Waardenburg syndrome].

Science.gov (United States)

Sans, B; Calvas, P; Bazex, J

1998-01-01

Waardenburg syndrome is an uncommon genetic disorder. Four clinical types are recognized. Three responsible genes have been identified (PAX 3: for type I syndrome, MITF and EDN3 for types II and IV respectively). We report the case of a patient with Waardenburg type I morphotype who had atypical neurological manifestations. Decisive elements for diagnosis were the presence of Waardenburg syndrome in the family and, in affected kin, a mutation causing a shift in PAX 3 gene reading. This case confirms the variability of Waardenburg signs within one family. The association of unusual neurological manifestations in the proband suggested that Vogt Koyanagi Harada disease may have been associated and may show some relationship with familial Waardenburg syndrome.

Atuação da fonoaudiologia na estética facial: relato de caso clínico Speech therapy performance ih the facial aesthetics: case report

Directory of Open Access Journals (Sweden)

Carla Cristina Gonçalves dos Santos

2011-08-01

Full Text Available TEMA: estética facial. PROCEDIMENTOS: por meio de anamnese e avaliação clínica, aplicou-se um protocolo de tratamento com manipulação funcional dos músculos mastigatórios faciais acompanhados de exercícios isométricos num total de 8 sessões semanais, durante 2 meses, sendo fotografados antes e após o tratamento. O objetivo foi caracterizar as modificações faciais do ponto de vista qualitativo avaliadas clinicamente após tratamento Fonoaudiológico, num enfoque etiológico de caráter biomecânico. RESULTADOS: observou-se uma melhoria da simetria facial e funções relacionadas à biomecânica mandibular. CONCLUSÃO: sugere-se a importância da atuação fonoaudiológica no restabelecimento facial e funcional da motricidade oral com repercussões na diminuição das rugas, marcas de expressão e flacidez.BACKGROUND: aesthetics PROCEDURES: by means of a questionnaire and clinical evaluation, we applied a treatment protocol with functional manipulation of the masticatory muscles accompanied by facial isometric exercises for a total of 8 weekly sessions during 2 months, and we photographed before and after treatment. This study aimed at featuring four facial changes in terms of quality, as assessed after treatment, under an etiological and biomechanical character focus. RESULTS: there was an improvement in facial symmetry and functions related to mandibular biomechanics. CONCLUSION: we suggest the importance of speech-language intervention in restoring facial and functional oral motor that influence the reduction of wrinkles, expression marks and flaccidity.

Automated facial acne assessment from smartphone images

Science.gov (United States)

Amini, Mohammad; Vasefi, Fartash; Valdebran, Manuel; Huang, Kevin; Zhang, Haomiao; Kemp, William; MacKinnon, Nicholas

2018-02-01

A smartphone mobile medical application is presented, that provides analysis of the health of skin on the face using a smartphone image and cloud-based image processing techniques. The mobile application employs the use of the camera to capture a front face image of a subject, after which the captured image is spatially calibrated based on fiducial points such as position of the iris of the eye. A facial recognition algorithm is used to identify features of the human face image, to normalize the image, and to define facial regions of interest (ROI) for acne assessment. We identify acne lesions and classify them into two categories: those that are papules and those that are pustules. Automated facial acne assessment was validated by performing tests on images of 60 digital human models and 10 real human face images. The application was able to identify 92% of acne lesions within five facial ROIs. The classification accuracy for separating papules from pustules was 98%. Combined with in-app documentation of treatment, lifestyle factors, and automated facial acne assessment, the app can be used in both cosmetic and clinical dermatology. It allows users to quantitatively self-measure acne severity and treatment efficacy on an ongoing basis to help them manage their chronic facial acne.

A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain.

Science.gov (United States)

Dutkiewicz, Anne-Sophie; Ezzedine, Khaled; Mazereeuw-Hautier, Juliette; Lacour, Jean-Philippe; Barbarot, Sébastien; Vabres, Pierre; Miquel, Juliette; Balguerie, Xavier; Martin, Ludovic; Boralevi, Franck; Bessou, Pierre; Chateil, Jean-François; Léauté-Labrèze, Christine

2015-03-01

Upper facial port-wine stain (PWS) is a feature of Sturge-Weber syndrome (SWS). Recent studies suggest that the distribution of the PWS corresponds to genetic mosaicism rather than to trigeminal nerve impairment. We sought to refine the cutaneous distribution of upper facial PWS at risk for SWS. This was a prospective multicenter study of consecutive cases of upper facial PWS larger than 1 cm² located in the ophthalmic division of trigeminal nerve distribution in infants aged less than 1 year, seen in 8 French pediatric dermatology departments between 2006 and 2012. Clinical data, magnetic resonance imaging, and photographs were systematically collected and studied. PWS were classified into 6 distinct patterns. In all, 66 patients were included. Eleven presented with SWS (magnetic resonance imaging signs and seizure). Four additional infants had suspected SWS without neurologic manifestations. Hemifacial (odds ratio 7.7, P = .003) and median (odds ratio 17.08, P = .008) PWS patterns were found to be at high risk for SWS. A nonmedian linear pattern was not associated with SWS. Small number of patients translated to limited power of the study. Specific PWS distribution patterns are associated with an increased risk of SWS. These PWS patterns conform to areas of somatic mosaicism. Terminology stipulating ophthalmic division of trigeminal nerve territory involvement in SWS should be abandoned. Copyright © 2014 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

Costello Syndrome with Severe Nodulocystic Acne: Unexpected Significant Improvement of Acanthosis Nigricans after Oral Isotretinoin Treatment

Directory of Open Access Journals (Sweden)

Leelawadee Sriboonnark

2015-01-01

Full Text Available We report the case of 17-year-old female diagnosed with Costello syndrome. Genetic testing provided a proof with G12S mutation in the HRAS gene since 3 years of age with a presentation of severe nodulocystic acne on her face. After 2 months of oral isotretinoin treatment, improvement in her acne was observed. Interestingly, an unexpected significant improvement of acanthosis nigricans on her neck and dorsum of her hands was found as well. We present this case as a successful treatment option by using oral isotretinoin for the treatment of acanthosis nigricans in Costello syndrome patients.

A case of aortitis syndrome diagnosed by digital subtraction angiography

International Nuclear Information System (INIS)

Tamaki, Atsushi; Sakai, Masashi; Yano, Kimio

1984-01-01

A 45-year-old female was admitted to our hospital with complaints of anemia, hypertension, and a dull, throbbing pain in the right side of the neck. On physical examination, a pulsating tumor in the right side of the neck and a ''to-and-fro'' murmur at the right 2nd intercostal space were noted. Laboratory tests revealed ESR 90 mm/hour and CRP 5+. Digital subtraction angiography (DSA) showed an aneurysm distal to the narrowing of the right common carotid artery, in addition to winding and narrowing of the right vertebral and the left common carotid arteries. These findings are typical of Type I aortitis syndrome. Aortogram showed aortic regurgitation (AR). Furthermore, we found the presence of HLA Bw52 and a conspicuous increase of tromboxane B 2 . Treatment involving a combination of prednisolone, azathioprine and estriol was effective, resulting in marked improvement of the patient's general condition as well as laboratory test results. In cases of aortitis syndrome combined with an aneurysm of a large artery and AR, direct opacification of the aorta with a catheter is occasionally hazardous and is difficult to perform repeatedly. DSA is useful in such circumstances because it can be performed repeatedly with little risk and it offers an image as clear as these obtained by direct injection of contrast medium in the aorta. (author)

Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome

NARCIS (Netherlands)

Narumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Neri, Giovanni; Cave, Helene; Verloes, Alain; Nava, Caroline; Kavamura, Maria Ines; Okamoto, Nobuhiko; Kurosawa, Kenji; Hennekam, Raoul C. M.; Wilson, Louise C.; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Lapunzina, Pablo; Ohashi, Hirofumi; Makita, Yoshio; Kondo, Ikuko; Tsuchiya, Shigeru; Ito, Etsuro; Sameshima, Kiyoko; Kato, Kumi; Kure, Shigeo; Matsubara, Yokhi

2007-01-01

Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are

Oro-facial gangrene (noma/cancrum oris): pathogenetic mechanisms.

Science.gov (United States)

Enwonwu, C O; Falkler, W A; Idigbe, E O

2000-01-01

Cancrum oris (Noma) is a devastating infectious disease which destroys the soft and hard tissues of the oral and para-oral structures. The dehumanizing oro-facial gangrenous lesion affects predominantly children ages 2 to 16 years, particularly in sub-Saharan Africa, where the estimated frequency in some communities varies from 1 to 7 cases per 1000 population. The risk factors are poverty, malnutrition, poor oral hygiene, residential proximity to livestock in unsanitary environments, and infectious diseases, particularly measles and those due to the herpesviridae. Infections and malnutrition impair the immune system, and this is the common denominator for the occurrence of noma. Acute necrotizing gingivitis (ANG) and oral herpetic ulcers are considered the antecedent lesions, and ongoing studies suggest that the rapid progression of these precursor lesions to noma requires infection by a consortium of micro-organisms, with Fusobacterium necrophorum (Fn) and Prevotella intermedia (Pi) as the suspected key players. Additional to production of a growth-stimulating factor for Pi, Fn displays a classic endotoxin, a dermonecrotic toxin, a cytoplasmic toxin, and a hemolysin. Without appropriate treatment, the mortality rate from noma is 70-90%. Survivors suffer the two-fold afflictions of oro-facial mutilation and functional impairment, which require a time-consuming, financially prohibitive surgical reconstruction.

Enhanced MRI in patients with facial palsy

International Nuclear Information System (INIS)

Yanagida, Masahiro; Kato, Tsutomu; Ushiro, Koichi; Kitajiri, Masanori; Yamashita, Toshio; Kumazawa, Tadami; Tanaka, Yoshimasa

1991-01-01

We performed Gd-DTPA-enhanced magnetic resonance imaging (MRI) examinations at several stages in 40 patients with peripheral facial nerve palsy (Bell's palsy and Ramsay-Hunt syndrome). In 38 of the 40 patients, one and more enhanced region could be seen in certain portion of the facial nerve in the temporal bone on the affected side, whereas no enhanced regions were seen on the intact side. Correlations between the timing of the MRI examination and the location of the enhanced regions were analysed. In all 6 patients examined by MRI within 5 days after the onset of facial nerve palsy, enhanced regions were present in the meatal portion. In 3 of the 8 patients (38%) examined by MRI 6 to 10 days after the onset of facial palsy, enhanced areas were seen in both the meatal and labyrinthine portions. In 8 of the 9 patients (89%) tested 11 to 20 days after the onset of palsy, the vertical portion was enhanced. In the 12 patients examined by MRI 21 to 40 days after the onset of facial nerve palsy, the meatal portion was not enhanced while the labyrinthine portion, the horizontal portion and the vertical portion were enhanced in 5 (42%), 8 (67%) and 11 (92%), respectively. Enhancement in the vertical portion was observed in all 5 patients examined more than 41 days after the onset of facial palsy. These results suggest that the central portion of the facial nerve in the temporal bone tends to be enhanced in the early stage of facial nerve palsy, while the peripheral portion is enhanced in the late stage. These changes of Gd-DTPA enhanced regions in the facial nerve may suggest dromic degeneration of the facial nerve in peripheral facial nerve palsy. (author)

Greater perceptual sensitivity to happy facial expression.

Science.gov (United States)

Maher, Stephen; Ekstrom, Tor; Chen, Yue

2014-01-01

Perception of subtle facial expressions is essential for social functioning; yet it is unclear if human perceptual sensitivities differ in detecting varying types of facial emotions. Evidence diverges as to whether salient negative versus positive emotions (such as sadness versus happiness) are preferentially processed. Here, we measured perceptual thresholds for the detection of four types of emotion in faces--happiness, fear, anger, and sadness--using psychophysical methods. We also evaluated the association of the perceptual performances with facial morphological changes between neutral and respective emotion types. Human observers were highly sensitive to happiness compared with the other emotional expressions. Further, this heightened perceptual sensitivity to happy expressions can be attributed largely to the emotion-induced morphological change of a particular facial feature (end-lip raise).

Sensorineural Deafness, Distinctive Facial Features and Abnormal Cranial Bones

Science.gov (United States)

Gad, Alona; Laurino, Mercy; Maravilla, Kenneth R.; Matsushita, Mark; Raskind, Wendy H.

2008-01-01

The Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1-4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. Here we describe a woman who shares some, but not all features of WS type 3 and CDHS, and who also has abnormal cranial bones. All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype. PMID:18553554

Anaesthesia and Freeman Sheldon Syndrome

African Journals Online (AJOL)

Adele

Freeman Sheldon syndrome is rare nonprogressive or slowly progressive myopathy ... fibrotic contractures of the facial muscles giving rise to the mask like whistling facial ... There is often an associated high arched palate and mandibular ...

Preliminary cephalometric study of the relationship between facial morphology and sex

Directory of Open Access Journals (Sweden)

Alhassan Kadri

2018-06-01

Full Text Available Morphology of the face depends on many factors, such as sex, ethnicity, race, climate, nutrition, genetic constitution and socio-economic status. In the developed countries, there is well established database on facial anthropometry and for the purpose of identification. In Ghana however, there is very little documented information on cephalometric indices for biometric and forensic purposes. This study therefore, aimed at establishing baseline data to assess the relationship between sex using upper, lower and total cephalometric indices. One hundred participants made up of sixty males and forty females from KNUST were recruited for the study. Linear facial anthropometry were taken using calibrated Shahe digital calipers whiles participants sat with head in natural position. The facial anthropometric measurements were generally higher in males than in females. Upper facial height, facial width, nasal width, biocular diameter, lower facial height, lip length and total facial height were statistically significant and (p < 0.05. The present study shows the existence of statistically significant sexual dimorphism in the study population using cephalo-facial dimensions. Keywords: Cephalometry, Facial height, Facial width, Nasal width, Biocular diameter, Sexually dimorphic

OROFACIAL FINDINGS IN NOONAN SYNDROME: A CASE REPORT

Directory of Open Access Journals (Sweden)

Raluca Maria MOCANU

2013-06-01

Full Text Available Noonan syndrome is an autosomal dominant multisys‐ tem disorder, associated with cardiac anomalies and a dis‐ tinctive facial appearance, characterized by genetic heterogeneity. Noonan syndrome affects both females and males, and has an estimated incidence of 1 per 1,000‐2,500 live births. The present report aims at presenting the cranio‐dento‐facial findings in a case of Noonan syndrome in a 6 year‐old male.

Oral conditions in patients with Sjögren’s Syndrome: a Systematic Review - doi:10.5020/18061230.2006.p234

Directory of Open Access Journals (Sweden)

Marina Fernandes de Sena

2012-01-01

Full Text Available The aim of this study was to investigate through a systematic review, the oral manifestations of Sjögren’s syndrome. It had as research sources: manual searches in publications, sites and electronic data bases such as MEDLINE, LILACS and BBO. As its inclusion criteria: cross-sectional, case-control and cohort studies which data collection was done by means of clinical indexes for dental caries, periodontal disease and oral mucosa. The selected idioms were: Portuguese, English and Spanish; in the period of 1990 to 2003. Searching strategies used included the following words: Sjögren, dmf, caries, decay, periodontal, plaque and gingivitis. Thirteen studies were selected, one of these in Spanish and the others in English. All delineations were case-control, 54% of these aimed at evaluating the relationship between patients with the syndrome and caries presence, 85% with periodontal disease and 32% relating to the alterations of oral mucosa. The analyzed studies showed that the main symptom of Sjögren’s syndrome is xerostomy and that exist a slight association between syndromic patients and dental caries index and some alterations of oral mucosa and a weak association with periodontal diseases.

Assessment of the mandibular symphysis of Caucasian Brazilian adults with well-balanced faces and normal occlusion: the influence of gender and facial type

Directory of Open Access Journals (Sweden)

Karine Evangelista Martins Arruda

2012-06-01

Full Text Available OBJECTIVE: This study aimed to establish cephalometric reference values for mandibular symphysis in adults. Dentoalveolar, skeletal and soft tissue variables were measured considering the influence of gender and facial type. METHODS: The sample consisted of sixty cephalometric radiographs of white Brazilian adult patients, with a mean age of 27 years and 6 months, who had not undergone orthodontic treatment and who presented well-balanced faces and normal occlusion. The sample was standardized according to gender (30 males and 30 females and facial type (20 were dolichofacial, 20 mesofacial and 20 brachyfacial. RESULTS: The results showed that male and female symphyses are similar, except for symphyseal height, which was greater in males. In terms of facial type, the dolichofacial group presented narrower symphysis in dentoalveolar and basal areas, with a more accentuated lingual dentoalveolar inclination. CONCLUSION: The brachyfacial group showed broader symphysis in the dentoalveolar and basal areas and a greater buccal dentoalveolar inclination. The projection of the chin was 6.67 mm below the subnasal vertical line and there was no significant difference between the genders or facial types.

Usher syndrome type III can mimic other types of Usher syndrome.

NARCIS (Netherlands)

Pennings, R.J.E.; Fields, R.R.; Huygen, P.L.M.; Deutman, A.F.; Kimberling, W.J.; Cremers, C.W.R.J.

2003-01-01

Clinical and genetic characteristics are presented of 2 patients from a Dutch Usher syndrome type III family who have a new homozygous USH3 gene mutation: 149-152delCAGG + insTGTCCAAT. One individual (IV:1) is profoundly hearing impaired and has normal vestibular function and retinitis punctata

Facial Nerve Palsy: An Unusual Presenting Feature of Small Cell Lung Cancer

Directory of Open Access Journals (Sweden)

Ozcan Yildiz

2011-01-01

Full Text Available Lung cancer is the second most common type of cancer in the world and is the most common cause of cancer-related death in men and women; it is responsible for 1.3 million deaths annually worldwide. It can metastasize to any organ. The most common site of metastasis in the head and neck region is the brain; however, it can also metastasize to the oral cavity, gingiva, tongue, parotid gland and lymph nodes. This article reports a case of small cell lung cancer presenting with metastasis to the facial nerve.

Management of ramsay hunt syndrome in an acute palliative care setting

Directory of Open Access Journals (Sweden)

Shrenik Ostwal

2015-01-01

Full Text Available Introduction: The Ramsay Hunt syndrome is characterized by combination of herpes infection and lower motor neuron type of facial nerve palsy. The disease is caused by a reactivation of Varicella Zoster virus and can be unrepresentative since the herpetic lesions may not be always be present (zoster sine herpete and might mimic other severe neurological illnesses. Case Report: A 63-year-old man known case of carcinoma of gall bladder with liver metastases, post surgery and chemotherapy with no scope for further disease modifying treatment, was referred to palliative care unit for best supportive care. He was on regular analgesics and other supportive treatment. He presented to Palliative Medicine outpatient with 3 days history of ipsilateral facial pain of neuropathic character, otalgia, diffuse vesciculo-papular rash over ophthalmic and maxillary divisions of left trigeminal nerve distribution of face and ear, and was associated with secondary bacterial infection and unilateral facial edema. He was clinically diagnosed to have Herpes Zoster with superadded bacterial infection. He was treated with tablet Valacyclovir 500 mg four times a day, Acyclovir cream for local application, Acyclovir eye ointment for prophylactic treatment of Herpetic Keratitis, low dose of Prednisolone, oral Amoxicillin and Clindamycin for 7 days, and Pregabalin 150 mg per day. After 7 days of treatment, the rash and vesicles had completely resolved and good improvement of pain and other symptoms were noted. Conclusion: Management of acute infections and its associated complications in an acute palliative care setting improves both quality and length of life.

Muscular subunits transplantation for facial reanimation

Directory of Open Access Journals (Sweden)

Hazan André Salo Buslik

2006-01-01

Full Text Available PURPOSE: To present an alternative technique for reconstruction of musculocutaneous damages in the face transferring innervated subsegments(subunits of the latissimus dorsi flap for replacement of various facial mimetic muscles. METHODS: One clinical case of trauma with skin and mimetic muscles damage is described as an example of the technique. The treatment was performed with microsurgical transfer of latissimus dorsi muscle subunits. Each subunit present shape and dimensions of the respective mimetic muscles replaced. The origin, insertions and force vectors for the mimicmuscle lost were considered. Each subsegment has its own arterial and venous supply with a motor nerve component for the muscular unit. RESULTS: Pre and one year postoperative photos registration of static and dynamic mimic aspects, as well as digital electromyography digital data of the patients were compared. The transplanted muscular units presented myoeletric activity, fulfilling both the functional and cosmetic aspect. CONCLUSION: This technique seems to be a promising way to deal with the complex musculocutaneous losses of the face as well as facial palsy.

Facial recognition software success rates for the identification of 3D surface reconstructed facial images: implications for patient privacy and security.

Science.gov (United States)

Mazura, Jan C; Juluru, Krishna; Chen, Joseph J; Morgan, Tara A; John, Majnu; Siegel, Eliot L

2012-06-01

Image de-identification has focused on the removal of textual protected health information (PHI). Surface reconstructions of the face have the potential to reveal a subject's identity even when textual PHI is absent. This study assessed the ability of a computer application to match research subjects' 3D facial reconstructions with conventional photographs of their face. In a prospective study, 29 subjects underwent CT scans of the head and had frontal digital photographs of their face taken. Facial reconstructions of each CT dataset were generated on a 3D workstation. In phase 1, photographs of the 29 subjects undergoing CT scans were added to a digital directory and tested for recognition using facial recognition software. In phases 2-4, additional photographs were added in groups of 50 to increase the pool of possible matches and the test for recognition was repeated. As an internal control, photographs of all subjects were tested for recognition against an identical photograph. Of 3D reconstructions, 27.5% were matched correctly to corresponding photographs (95% upper CL, 40.1%). All study subject photographs were matched correctly to identical photographs (95% lower CL, 88.6%). Of 3D reconstructions, 96.6% were recognized simply as a face by the software (95% lower CL, 83.5%). Facial recognition software has the potential to recognize features on 3D CT surface reconstructions and match these with photographs, with implications for PHI.

Dental and oral complications of lip and tongue piercings.

Science.gov (United States)

De Moor, R J G; De Witte, A M J C; Delmé, K I M; De Bruyne, M A A; Hommez, G M G; Goyvaerts, D

2005-10-22

Piercing of the tongue and perioral regions is an increasingly popular expression of body art, with more patients coming in for a routine check-up with tongue and/or lip piercings. Several complications of oral piercing have been reported, some of which are life-threatening. In the present clinical survey the prevalence of both tongue and lip piercing complications in oral health was assessed in a group of 50 patients. The most common dental problem registered was chipping of the teeth, especially in association with tongue piercing. Gingival recession was seen as a result of lip piercing with studs. Post-procedural complications included oedema, haemorrhage and infection. Therefore, dentists and oral and maxillofacial surgeons should be given more authority to advise patients with oral and facial piercings or those who plan to acquire this type of body art.

Facial emotion recognition, face scan paths, and face perception in children with neurofibromatosis type 1.

Science.gov (United States)

Lewis, Amelia K; Porter, Melanie A; Williams, Tracey A; Bzishvili, Samantha; North, Kathryn N; Payne, Jonathan M

2017-05-01

This study aimed to investigate face scan paths and face perception abilities in children with Neurofibromatosis Type 1 (NF1) and how these might relate to emotion recognition abilities in this population. The authors investigated facial emotion recognition, face scan paths, and face perception in 29 children with NF1 compared to 29 chronological age-matched typically developing controls. Correlations between facial emotion recognition, face scan paths, and face perception in children with NF1 were examined. Children with NF1 displayed significantly poorer recognition of fearful expressions compared to controls, as well as a nonsignificant trend toward poorer recognition of anger. Although there was no significant difference between groups in time spent viewing individual core facial features (eyes, nose, mouth, and nonfeature regions), children with NF1 spent significantly less time than controls viewing the face as a whole. Children with NF1 also displayed significantly poorer face perception abilities than typically developing controls. Facial emotion recognition deficits were not significantly associated with aberrant face scan paths or face perception abilities in the NF1 group. These results suggest that impairments in the perception, identification, and interpretation of information from faces are important aspects of the social-cognitive phenotype of NF1. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Efficacy and safety of oral sildenafil in children with Down syndrome and pulmonary hypertension.

Science.gov (United States)

Beghetti, Maurice; Rudzinski, Andrzej; Zhang, Min

2017-07-04

Despite the increased risk for pulmonary hypertension in children with Down syndrome, the response to treatment with targeted therapies for pulmonary hypertension in these patients is not well characterized. The Sildenafil in Treatment-naive children, Aged 1-17 years, with pulmonary arterial hypertension (STARTS-1) trial was a dose-ranging study of the short-term efficacy and safety of oral sildenafil in children with pulmonary arterial hypertension. We assessed the safety and efficacy of oral sildenafil in children with Down syndrome and pulmonary arterial hypertension. This was a post-hoc analysis of children with Down syndrome and pulmonary arterial hypertension enrolled in the STARTS-1 trial. Mean pulmonary arterial pressure (mPAP), pulmonary vascular resistance index (PVRI), and cardiac index (CI) were assessed at baseline and following 16 weeks of treatment with sildenafil. Of 234 patients randomized and treated in the STARTS-1 trial, 48 (20.5%) had Down syndrome. Although sildenafil produced dose-related reductions in PVRI and mPAP, compared with placebo, in non-Down syndrome patients and children developmentally able to exercise, this was not satisfactorily marked in patients with Down syndrome. The dose-related reductions in PVRI, compared with placebo, occurred in all subgroups, with the exception of the Down syndrome subgroup. Sildenafil appeared to be well tolerated in the Down syndrome subpopulation and the most frequently reported AEs were similar to those reported for the entire STARTS-1 population. Sildenafil treatment for 16 weeks had no effect on PVRI or mPAP in children with Down syndrome and pulmonary arterial hypertension. The results suggest that children with Down syndrome may be less responsive to sildenafil for pulmonary arterial hypertension, but the incomplete work-up for the etiology of pulmonary arterial hypertension may have introduced a potential bias. Study received, September 8, 2005 (retrospectively registered); Study start