Sample records for facial dysmorphic features

  1. Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations

    PubMed Central

    Gunduz, Mehmet

    2016-01-01

    Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were 3.5 years and 1 year in the patients. Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems. Ophthalmologic examination suggested septooptic dysplasia. Cranial magnetic resonance imaging (MRI) showed nonspecific gliosis at subcortical and periventricular deep white matter. Case II was 2.5-year-old girl referred for investigation of global developmental delay and elevated liver enzymes. Ophthalmologic examination findings were consistent with bilateral nystagmus and retinitis pigmentosa. Cranial MRI was normal. Dysmorphic facial features including broad nasal root, low set ears, downward slanting eyes, downward slanting eyebrows, and epichantal folds were common findings in two patients. Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case I and homozygous p.G843D (c.2528G>A) mutation in Case II in the PEX1 gene. Clinical findings and developmental prognosis vary in PEX1 gene mutation. Kabuki-like phenotype associated with liver pathology may indicate Zellweger spectrum disorders (ZSD). PMID:27882258

  2. A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism.

    PubMed

    Şimşek-Kiper, Pelin Özlem; Bayram, Yavuz; Ütine, Gülen Eda; Alanay, Yasemin; Boduroğlu, Koray

    2014-01-01

    Distal 11q deletion, previously known as Jacobsen syndrome, is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. Typical clinical features include facial dysmorphism, mild-to-moderate psychomotor retardation, trigonocephaly, cardiac defects, and thrombocytopenia. There is a significant variability in the range of clinical features. We report herein a five-year-old girl with severe ophthalmological findings, facial dysmorphism, and psychomotor retardation with normal platelet function, in whom a de novo 11q23 deletion was detected, suggesting that distal 11q monosomy should be kept in mind in patients presenting with dysmorphic facial features and psychomotor retardation even in the absence of hematological findings.

  3. Case Report: Congenital Erythroleukemia in a Premature Infant with Dysmorphic Features.

    PubMed

    Helin, Heidi; van der Walt, Jon; Holder, Muriel; George, Simi

    2016-01-01

    We present a case of pure erythroleukemia, diagnosed at autopsy, in a dysmorphic premature infant who died of multiorgan failure within 24 hours of birth. Dysmorphic features included facial and limb abnormalities with long philtrum, microagnathia, downturned mouth, short neck as well as abnormal and missing nails, missing distal phalanx from the second toe, and overlapping toes. Internal findings included gross hepatomegaly and patchy hemorrhages in the liver, splenomegaly, and cardiomegaly; and subdural, intracerebral, and intraventricular hemorrhages. Histology revealed infiltration of bone marrow, kidney, heart, liver, adrenal, lung, spleen, pancreas, thyroid, testis, thymus, and placenta by pure erythroleukemia. Only 6 cases of congenital erythroleukemia have been previously reported with autopsy findings similar to those of this case. The dysmorphic features, although not fitting any specific syndrome, make this case unique. Congenital erythroleukemia and possible syndromes suggested by the dysmorphic features are discussed.

  4. De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.

    PubMed

    Tanaka, Akemi J; Cho, Megan T; Retterer, Kyle; Jones, Julie R; Nowak, Catherine; Douglas, Jessica; Jiang, Yong-Hui; McConkie-Rosell, Allyn; Schaefer, G Bradley; Kaylor, Julie; Rahman, Omar A; Telegrafi, Aida; Friedman, Bethany; Douglas, Ganka; Monaghan, Kristin G; Chung, Wendy K

    2016-01-01

    We identified five unrelated individuals with significant global developmental delay and intellectual disability (ID), dysmorphic facial features and frequent microcephaly, and de novo predicted loss-of-function variants in chromosome alignment maintaining phosphoprotein 1 (CHAMP1). Our findings are consistent with recently reported de novo mutations in CHAMP1 in five other individuals with similar features. CHAMP1 is a zinc finger protein involved in kinetochore-microtubule attachment and is required for regulating the proper alignment of chromosomes during metaphase in mitosis. Mutations in CHAMP1 may affect cell division and hence brain development and function, resulting in developmental delay and ID.

  5. Patterns of Dysmorphic Features in Schizophrenia

    PubMed Central

    Scutt, L.E.; Chow, E.W.C.; Weksberg, R.; Honer, W.G.; Bassett, Anne S.

    2011-01-01

    Congenital dysmorphic features are prevalent in schizophrenia and may reflect underlying neurodevelopmental abnormalities. A cluster analysis approach delineating patterns of dysmorphic features has been used in genetics to classify individuals into more etiologically homogeneous subgroups. In the present study, this approach was applied to schizophrenia, using a sample with a suspected genetic syndrome as a testable model. Subjects (n = 159) with schizophrenia or schizoaffective disorder were ascertained from chronic patient populations (random, n=123) or referred with possible 22q11 deletion syndrome (referred, n = 36). All subjects were evaluated for presence or absence of 70 reliably assessed dysmorphic features, which were used in a three-step cluster analysis. The analysis produced four major clusters with different patterns of dysmorphic features. Significant between-cluster differences were found for rates of 37 dysmorphic features (P < 0.05), median number of dysmorphic features (P = 0.0001), and validating features not used in the cluster analysis: mild mental retardation (P = 0.001) and congenital heart defects (P = 0.002). Two clusters (1 and 4) appeared to represent more developmental subgroups of schizophrenia with elevated rates of dysmorphic features and validating features. Cluster 1 (n = 27) comprised mostly referred subjects. Cluster 4 (n= 18) had a different pattern of dysmorphic features; one subject had a mosaic Turner syndrome variant. Two other clusters had lower rates and patterns of features consistent with those found in previous studies of schizophrenia. Delineating patterns of dysmorphic features may help identify subgroups that could represent neurodevelopmental forms of schizophrenia with more homogeneous origins. PMID:11803519

  6. Facial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency.

    PubMed

    Yüksel, Adnan; Seven, Mehmet; Cetincelik, Umran; Yeşil, Gözde; Köksal, Vedat

    2006-06-01

    Leigh syndrome is an inherited, progressive neurodegenerative disorder of infancy and childhood. Mutations in the nuclear SURF-1 gene are specifically associated with cytochrome C oxidase-deficient Leigh syndrome. This report describes two patients with similar facial features. One of them was a 2(1/2)-year-old male, and the other was a 3-year-old male with a mutation in SURF-1 gene and facial dysmorphism including frontal bossing, brachycephaly, hypertrichosis, lateral displacement of inner canthi, esotropia, maxillary hypoplasia, hypertrophic gums, irregularly placed teeth, upturned nostril, low-set big ears, and retrognathi. The first patient's magnetic resonance imaging at 15 months of age indicated mild symmetric T2 prolongation involving the subthalamic nuclei. His second magnetic resonance imaging at 2 years old revealed a symmetric T2 prolongation involving the subthalamic nuclei, substantia nigra, and medulla lesions. In the second child, at the age of 2 the first magnetic resonance imaging documented heavy brainstem and subthalamic nuclei involvement. A second magnetic resonance imaging, performed when he was 3 years old, revealed diffuse involvement of the substantia nigra and hyperintense lesions of the central tegmental tract in addition to previous lesions. Facial dysmorphism and magnetic resonance imaging findings, observed in these cases, can be specific findings in Leigh syndrome patients with cytochrome C oxidase deficiency. SURF-1 gene mutations must be particularly reviewed in such patients.

  7. Facial discrimination in body dysmorphic, obsessive-compulsive and social anxiety disorders.

    PubMed

    Hübner, Claudia; Wiesendahl, Wiebke; Kleinstäuber, Maria; Stangier, Ulrich; Kathmann, Norbert; Buhlmann, Ulrike

    2016-02-28

    Body dysmorphic disorder (BDD) is characterized by preoccupation with perceived flaws in one's own appearance. Several risk factors such as aesthetic perceptual sensitivity have been proposed to explain BDD's unique symptomatology. Although research on facial discrimination is limited so far, the few existing studies have produced mixed results. Thus, the purpose of this study was to further examine facial discrimination in BDD. We administered a facial discrimination paradigm, which allows to assess the ability to identify slight to strong facial changes (e.g., hair loss, acne) when presented with an original (unmodified) facial image, relative to a changed (modified) facial image. The experiment was administered in individuals with BDD, social anxiety disorder, obsessive-compulsive disorder, and mentally healthy controls (32 per group, respectively). Overall, groups did not differ with respect to their ability to correctly identify facial aberrations when presented with other people's faces. Our findings do not support the hypothesis of enhanced general aesthetic perceptual sensitivity in individuals with (vs. without) BDD. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  8. Double trisomy 48,XXX,+18 with multiple dysmorphic features.

    PubMed

    Jiang, Zi-Yan; Wu, Xiao-Hui; Zou, Chao-Chun

    2015-02-01

    Chromosomal abnormality is a common cause of congenital anomalies, psychiatric disorders, and mental retardation. However, the double trisomy 48,XXX,+18 is a rare chromosome abnormality. Case report and literature review. A 7-hour-old girl presented to our unit because of poor response after birth. She presented with multiple dysmorphic features, including small for gestational age infant, flat nasal bridge, widely-spaced eyes, the left thumb deformities, flat facial profile, raised sternum, ventricular septal defect, the third lateral brain ventricle enlargement, and small liver. This case expands the spectrum of malformations reported in association with the double trisomy 48,XXX,+18. The literature on 16 fetuses or infants with the 48,XXX,+18 were also reviewed. These data suggested that in patients with clinical features similar to trisomy 18, especially with anomalies of the ears and/or reproductive malformations, double trisomy (48,XXX,+18) should be considered and karyotyping should be performed although it is a rare disease.

  9. Dysmorphic features and developmental outcome of 2-year-old children.

    PubMed

    Seggers, Jorien; Haadsma, Maaike L; Bos, Arend F; Heineman, Maas Jan; Middelburg, Karin J; van den Heuvel, Edwin R; Hadders-Algra, Mijna

    2014-11-01

    The aim of this study was to assess the associations between dysmorphic features and neurological, mental, psychomotor, and behavioural development in order to improve our understanding of aetiological pathways leading to minor developmental problems. In our cross-sectional study, 272 generally healthy 2-year-olds (143 males, 129 females; median gestational age 39 weeks, [range 30-43wks]), born after a parental history of subfertility either with or without fertility treatment, were examined. Dysmorphic features were classified as abnormalities (clinically relevant or not), minor anomalies, or common variants according to Merks' classification system. Hempel's neurological assessment resulted in a neurological optimality score (NOS) and fluency score. Mental and psychomotor development were assessed with the Dutch version of the Bayley Scales of Infant Development and behavioural development with the Achenbach Child Behaviour Checklist. Of the different types of dysmorphic feature, clinically relevant abnormalities were most strongly associated with a lower NOS (difference -2.53, 95% confidence interval [CI] -4.23 to -0.83) and fluency score (difference -0.62, 95% CI -1.1 to -0.15). The presence of one or more abnormalities (clinically relevant or not) or one or more common variants was significantly associated with a lower NOS, and the presence of three or more minor anomalies was associated with lower fluency scores. Dysmorphic features were not associated with mental, psychomotor, or behavioural development. As dysmorphic features originate during the first trimester of pregnancy, the association between dysmorphic features and minor alterations in neurodevelopment may suggest an early ontogenetic origin of subtle neurological deviations. © 2014 Mac Keith Press.

  10. Comparison of facial features of DiGeorge syndrome (DGS) due to deletion 10p13-10pter with DGS due to 22q11 deletion

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Goodship, J.; Lynch, S.; Brown, J.

    1994-09-01

    DiGeorge syndrome (DGS) is a congenital anomaly consisting of cardiac defects, aplasia or hypoplasia of the thymus and parathroid glands, and dysmorphic facial features. The majority of DGS cases have a submicroscopic deletion within chromosome 22q11. However there have been a number of reports of DGS in association with other chromosomal abnormalities including four cases with chromosome 10p deletions. We describe a further 10p deletion case and suggest that the facial features in children with DGS due to deletions of 10p are different from those associated with chromosome 22 deletions. The propositus was born at 39 weeks gestation to unrelatedmore » caucasian parents, birth weight 2580g (10th centile) and was noted to be dysmorphic and cyanosed shortly after birth. The main dysmorphic facial features were a broad nasal bridge with very short palpebral fissures. Echocardiography revealed a large subsortic VSD and overriding aorta. She had a low ionised calcium and low parathroid hormone level. T cell subsets and PHA response were normal. Abdominal ultrasound showed duplex kidneys and on further investigation she was found to have reflux and raised plasma creatinine. She had an anteriorly placed anus. Her karyotype was 46,XX,-10,+der(10)t(3;10)(p23;p13)mat. The dysmorphic facial features in this baby are strikingly similar to those noted by Bridgeman and Butler in child with DGS as the result of a 10p deletion and distinct from the face seen in children with DiGeorge syndrome resulting from interstitial chromosome 22 deletions.« less

  11. Prevalence of Body Dysmorphic Disorder and Surgeon Diagnostic Accuracy in Facial Plastic and Oculoplastic Surgery Clinics.

    PubMed

    Joseph, Andrew W; Ishii, Lisa; Joseph, Shannon S; Smith, Jane I; Su, Peiyi; Bater, Kristin; Byrne, Patrick; Boahene, Kofi; Papel, Ira; Kontis, Theda; Douglas, Raymond; Nelson, Christine C; Ishii, Masaru

    2017-07-01

    Body dysmorphic disorder (BDD) is a relative contraindication for facial plastic surgery, but formal screening is not common in practice. The prevalence of BDD in patients seeking facial plastic surgery is not well documented. To establish the prevalence of BDD across facial plastic and oculoplastic surgery practice settings, and estimate the ability of surgeons to screen for BDD. This multicenter prospective study recruited a cohort of 597 patients who presented to academic and private facial plastic and oculoplastic surgery practices from March 2015 to February 2016. All patients were screened for BDD using the Body Dysmorphic Disorder Questionnaire (BDDQ). After each clinical encounter, surgeons independently evaluated the likelihood that a participating patient had BDD. Validated instruments were used to assess satisfaction with facial appearance including the FACE-Q, Blepharoplasty Outcomes Evaluation (BOE), Facelift Outcomes Evaluation (FOE), Rhinoplasty Outcomes Evaluation (ROE), and Skin Rejuvenation Outcomes Evaluation (SROE). Across participating practices (9 surgeons, 3 sites), a total of 597 patients were screened for BDD: 342 patients from site 1 (mean [SD] age, 44.2 [16.5] years); 158 patients, site 2 (mean [SD] age, 46.0 [16.2] years), site 3, 97 patients (mean [SD] age, 56.3 [15.5] years). Overall, 58 patients [9.7%] screened positive for BDD by the BDDQ instrument, while only 16 of 402 patients [4.0%] were clinically suspected of BDD by surgeons. A higher percentage of patients presenting for cosmetic surgery (37 of 283 patients [13.1%]) compared with those presenting for reconstructive surgery (21 of 314 patients [6.7%]) screened positive on the BDDQ (odds ratio, 2.10; 95% CI, 1.20-3.68; P = .01). Surgeons were only able to correctly identify 2 of 43 patients (4.7%) who screened positive for BDD on the BDDQ, and the positive likelihood ratio was only 1.19 (95% CI, 0.28-5.07). Patients screening positive for BDD by the BDDQ had lower

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

    PubMed

    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.

  13. Enhancing facial features by using clear facial features

    NASA Astrophysics Data System (ADS)

    Rofoo, Fanar Fareed Hanna

    2017-09-01

    The similarity of features between individuals of same ethnicity motivated the idea of this project. The idea of this project is to extract features of clear facial image and impose them on blurred facial image of same ethnic origin as an approach to enhance a blurred facial image. A database of clear images containing 30 individuals equally divided to five different ethnicities which were Arab, African, Chines, European and Indian. Software was built to perform pre-processing on images in order to align the features of clear and blurred images. And the idea was to extract features of clear facial image or template built from clear facial images using wavelet transformation to impose them on blurred image by using reverse wavelet. The results of this approach did not come well as all the features did not align together as in most cases the eyes were aligned but the nose or mouth were not aligned. Then we decided in the next approach to deal with features separately but in the result in some cases a blocky effect was present on features due to not having close matching features. In general the available small database did not help to achieve the goal results, because of the number of available individuals. The color information and features similarity could be more investigated to achieve better results by having larger database as well as improving the process of enhancement by the availability of closer matches in each ethnicity.

  14. Photoanthropometric study of dysmorphic features of the face in children with autism and asperger syndrome.

    PubMed

    Gorczyca, Piotr; Kapinos-Gorczyca, Agnieszka; Ziora, Katarzyna; Oświęcimska, Joanna

    2012-01-01

    Childhood autism is a neurodevelopmental disorder characterized by impairments in social interactions, verbal and non-verbal communication and by a pattern of stereotypical behaviors and interests. The aim of this study was to estimate the dysmorphic facial features of children with autism and children with Asperger syndrome. The examination was conducted on 60 children (30 with childhood autism and 30 with Asperger syndrome). The photo anthropometric method used in this study followed the protocol established by Stengel-Rutkowski et al. The performed statistical analysis showed that in patients with childhood autism, the anteriorly rotated ears and the long back of the nose appeared more often. In the group of children with autism, there was a connection between the amount of dysmorphies and the presence of some somatic diseases in the first-degree relatives. There was also a connection between the motor coordination and the age the child began to walk. In patients with childhood autism, there were certain dysmorphies (like the anterior rotated ears and the long back of the nose) which appeared more often. Although the connection was not statistically significant, it seemed to concur with data from the literature. Formulation of the other conclusions would require broader studies e.g. dealing with a familial analysis of dysmorphic features.

  15. Photoanthropometric Study of Dysmorphic Features of the Face in Children with Autism and Asperger Syndrome

    PubMed Central

    Kapinos- Gorczyca, Agnieszka; Ziora, Katarzyna; Oświęcimska, Joanna

    2012-01-01

    Objective Childhood autism is a neurodevelopmental disorder characterized by impairments in social interactions, verbal and non-verbal communication and by a pattern of stereotypical behaviors and interests. The aim of this study was to estimate the dysmorphic facial features of children with autism and children with Asperger syndrome. Methods The examination was conducted on 60 children (30 with childhood autism and 30 with Asperger syndrome). The photo anthropometric method used in this study followed the protocol established by Stengel-Rutkowski et al. Results The performed statistical analysis showed that in patients with childhood autism, the anteriorly rotated ears and the long back of the nose appeared more often. In the group of children with autism, there was a connection between the amount of dysmorphies and the presence of some somatic diseases in the first-degree relatives. There was also a connection between the motor coordination and the age the child began to walk. Discussion In patients with childhood autism, there were certain dysmorphies (like the anterior rotated ears and the long back of the nose) which appeared more often. Although the connection was not statistically significant, it seemed to concur with data from the literature. Conclusion Formulation of the other conclusions would require broader studies e.g. dealing with a familial analysis of dysmorphic features. PMID:23056117

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

    PubMed

    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.

  17. External facial features modify the representation of internal facial features in the fusiform face area.

    PubMed

    Axelrod, Vadim; Yovel, Galit

    2010-08-15

    Most studies of face identity have excluded external facial features by either removing them or covering them with a hat. However, external facial features may modify the representation of internal facial features. Here we assessed whether the representation of face identity in the fusiform face area (FFA), which has been primarily studied for internal facial features, is modified by differences in external facial features. We presented faces in which external and internal facial features were manipulated independently. Our findings show that the FFA was sensitive to differences in external facial features, but this effect was significantly larger when the external and internal features were aligned than misaligned. We conclude that the FFA generates a holistic representation in which the internal and the external facial features are integrated. These results indicate that to better understand real-life face recognition both external and internal features should be included. Copyright (c) 2010 Elsevier Inc. All rights reserved.

  18. Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome.

    PubMed

    Schmidt, H; Rudolph, G; Hergersberg, M; Schneider, K; Moradi, S; Meitinger, T

    2001-02-01

    We report on a consanguineous family with 6 children (out of 7) affected by a spondylo-ocular syndrome. Clinical features include cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, immobile spine with thorakal kyphosis and reduced lumbal lordosis. On ophthalmological examination of the index patient, a dense cataract and complete retinal detachment could be detected on the right eye. On the left eye, an absent lens nucleus was found, but no retinal detachment. On radiological examination, there was generalized moderate osteoporosis; the spine showed marked platyspondyly and the bone age was advanced. On laboratory investigations, a normal excretion of amino acids, mucopolysaccharides and oligosaccharides could be found. The phenotypical spectrum observed in the 6 affected individuals was rather uniform. The karyotype was normal in all affected children. This hitherto undescribed combination of oculo-skeletal symptoms shows most resemblance with connective tissue disorders, suggesting a range of candidate genes for mutation analysis.

  19. Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features

    PubMed Central

    Lintas, Carla; Picinelli, Chiara; Piras, Ignazio S.; Sacco, Roberto; Gabriele, Stefano; Verdecchia, Magda; Persico, Antonio M.

    2016-01-01

    A novel 19.98-Mb duplication in chromosome Xp22.33p22.12 was detected by array CGH in a 30-year-old man affected by intellectual disability, congenital hypotonia and dysmorphic features. The duplication encompasses more than 100 known genes. Many of these genes (such as neuroligin 4, cyclin-dependent kinase like 5, and others) have already correlated with X-linked intellectual disability and/or neurodevelopmental disorders. Due to the high number of potentially pathogenic genes involved in the reported duplication, we cannot correlate the clinical phenotype to a single gene. Indeed, we suggest that the resulting clinical phenotype may have arisen from the overexpression and consequent perturbation of fine gene dosage. PMID:26997944

  20. Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features.

    PubMed

    Lintas, Carla; Picinelli, Chiara; Piras, Ignazio S; Sacco, Roberto; Gabriele, Stefano; Verdecchia, Magda; Persico, Antonio M

    2016-02-01

    A novel 19.98-Mb duplication in chromosome Xp22.33p22.12 was detected by array CGH in a 30-year-old man affected by intellectual disability, congenital hypotonia and dysmorphic features. The duplication encompasses more than 100 known genes. Many of these genes (such as neuroligin 4, cyclin-dependent kinase like 5, and others) have already correlated with X-linked intellectual disability and/or neurodevelopmental disorders. Due to the high number of potentially pathogenic genes involved in the reported duplication, we cannot correlate the clinical phenotype to a single gene. Indeed, we suggest that the resulting clinical phenotype may have arisen from the overexpression and consequent perturbation of fine gene dosage.

  1. Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.

    PubMed

    Jenkinson, Emma M; Kingston, Helen; Urquhart, Jill; Khan, Naz; Melville, Athalie; Swinton, Martin; Crow, Yanick J; Davis, Julian R E; Trump, Dorothy; Newman, William G

    2011-12-01

    We present a newly recognized, likely autosomal recessive, pleiotropic disorder seen in four individuals (three siblings and their nephew) from a consanguineous family of Pakistani origin. The condition is characterized by hypogonadotropic hypogonadism, severe microcephaly, sensorineural deafness, moderate learning disability, and distinctive facial dysmorphic features. Autozygosity mapping using SNP array genotyping defined a single, large autozygous region of 13.1 Mb on chromosome 3p21 common to the affected individuals. The critical region contains 227 genes and initial sequence analysis of a functional candidate gene has not identified causative mutations. Copyright © 2011 Wiley Periodicals, Inc.

  2. Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations.

    PubMed

    Noordman, Iris; Duijnhouwer, Anthonie; Kapusta, Livia; Kempers, Marlies; Roeleveld, Nel; Schokking, Michiel; Smeets, Dominique; Freriks, Kim; Timmers, Henri; van Alfen-van der Velden, Janiëlle

    2018-06-01

    Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the association between these features, karyotype and cardio-aortic malformations. This prospective study investigated 14 dysmorphic features of TS girls and women using a checklist. Three major phenotypic patterns were recognized (severe phenotype, lymphatic phenotype and skeletal phenotype). Patient data including karyotype and cardio-aortic malformations (bicuspid aortic valve (BAV) and aortic coarctation (COA)) were collected. Associations between the prevalence of dysmorphic features, karyotype and cardio-aortic malformations were analysed using chi 2 -test and odds ratios. A total of 202 patients (84 girls and 118 women) were analysed prospectively. Differences in prevalence of dysmorphic features were found between girls and women. A strong association was found between monosomy 45,X and the phenotypic patterns. Furthermore, an association was found between COA and lymphatic phenotype, but no association was found between karyotype and cardio-aortic malformations. This study uncovered a difference in dysmorphic features between girls and women. Monosomy 45,X is associated with a more severe phenotype, lymphatic phenotype and skeletal phenotype. All patients with TS should be screened for cardio-aortic malformations, because in contrast to previous reports, karyotype and cardio-aortic malformations showed no significant association. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

  3. Sensorineural Deafness, Distinctive Facial Features and Abnormal Cranial Bones

    PubMed Central

    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

  4. Image ratio features for facial expression recognition application.

    PubMed

    Song, Mingli; Tao, Dacheng; Liu, Zicheng; Li, Xuelong; Zhou, Mengchu

    2010-06-01

    Video-based facial expression recognition is a challenging problem in computer vision and human-computer interaction. To target this problem, texture features have been extracted and widely used, because they can capture image intensity changes raised by skin deformation. However, existing texture features encounter problems with albedo and lighting variations. To solve both problems, we propose a new texture feature called image ratio features. Compared with previously proposed texture features, e.g., high gradient component features, image ratio features are more robust to albedo and lighting variations. In addition, to further improve facial expression recognition accuracy based on image ratio features, we combine image ratio features with facial animation parameters (FAPs), which describe the geometric motions of facial feature points. The performance evaluation is based on the Carnegie Mellon University Cohn-Kanade database, our own database, and the Japanese Female Facial Expression database. Experimental results show that the proposed image ratio feature is more robust to albedo and lighting variations, and the combination of image ratio features and FAPs outperforms each feature alone. In addition, we study asymmetric facial expressions based on our own facial expression database and demonstrate the superior performance of our combined expression recognition system.

  5. Prevalence of Body Dysmorphic Disorder and its Association With Body Features in Female Medical Students.

    PubMed

    Shaffi Ahamed, Shaik; Enani, Jawaher; Alfaraidi, Lama; Sannari, Lujain; Algain, Rihaf; Alsawah, Zainah; Al Hazmi, Ali

    2016-06-01

    Body dysmorphic disorder (BDD) is a distressing psychiatric disorder. So far there have not been any studies on BDD in Saudi Arabia. The aim of this study was to determine the prevalence of body dysmorphic disorder in female medical students and to investigate whether there is an association between BDD and body features of concern, social anxiety and symptoms of BDD. A cross sectional study was carried out on female medical students of the college of medicine, King Saud University, Riyadh, Saudi Arabia during January to April, 2015. Data were collected using the body image disturbance questionnaire, Body dysmorphic disorder symptomatology and social interaction anxiety scale. Descriptive statistics, bivariate and multivariate analysis were used to analyze the results. Out of 365 students who filled out the questionnaire, 4.4% (95% confidence intervals (CI): 2.54% to 7.04%) were positive for BDD with skin (75%) and fat (68.8%) as the most frequent body features of concern. Ten features (skin, fat, chest, hips, buttocks, arms, legs, lips, fingers, and shoulders) out of twenty-six were significantly associated with BDD. Arms and chest were independently associated with BDD. The odds of presence of body concern related to "arms" was 4.3 (95% C.I: 1.5, 12.1) times more in BDD subjects than non-BDD subjects, while concern about "chest" was 3.8 (1.3, 10.9) times more when compared to non-BDD subjects. No statistically significant association was observed between BDD and social anxiety (P = 0.13). This was the first study conducted in Kingdom of Saudi Arabia (KSA) on female medical students, which quantified the prevalence of BDD and identified the body features associated with it. Body dysmorphic disorder is prevalent in female medical students but it is relatively rare and an unnoticed disorder.

  6. Prevalence of Body Dysmorphic Disorder and its Association With Body Features in Female Medical Students

    PubMed Central

    Shaffi Ahamed, Shaik; Enani, Jawaher; Alfaraidi, Lama; Sannari, Lujain; Algain, Rihaf; Alsawah, Zainah; Al Hazmi, Ali

    2016-01-01

    Background Body dysmorphic disorder (BDD) is a distressing psychiatric disorder. So far there have not been any studies on BDD in Saudi Arabia. Objectives The aim of this study was to determine the prevalence of body dysmorphic disorder in female medical students and to investigate whether there is an association between BDD and body features of concern, social anxiety and symptoms of BDD. Materials and Methods A cross sectional study was carried out on female medical students of the college of medicine, King Saud University, Riyadh, Saudi Arabia during January to April, 2015. Data were collected using the body image disturbance questionnaire, Body dysmorphic disorder symptomatology and social interaction anxiety scale. Descriptive statistics, bivariate and multivariate analysis were used to analyze the results. Results Out of 365 students who filled out the questionnaire, 4.4% (95% confidence intervals (CI): 2.54% to 7.04%) were positive for BDD with skin (75%) and fat (68.8%) as the most frequent body features of concern. Ten features (skin, fat, chest, hips, buttocks, arms, legs, lips, fingers, and shoulders) out of twenty-six were significantly associated with BDD. Arms and chest were independently associated with BDD. The odds of presence of body concern related to “arms” was 4.3 (95% C.I: 1.5, 12.1) times more in BDD subjects than non-BDD subjects, while concern about “chest” was 3.8 (1.3, 10.9) times more when compared to non-BDD subjects. No statistically significant association was observed between BDD and social anxiety (P = 0.13). Conclusions This was the first study conducted in Kingdom of Saudi Arabia (KSA) on female medical students, which quantified the prevalence of BDD and identified the body features associated with it. Body dysmorphic disorder is prevalent in female medical students but it is relatively rare and an unnoticed disorder. PMID:27803720

  7. Thalamic Massa Intermedia Duplication in a Dysmorphic 14 month-old Toddler.

    PubMed

    Whitehead, Matthew T

    2015-06-01

    The massa intermedia is an inconstant parenchymal band connecting the medial thalami. It may be thickened in various disease processes such as Chiari II malformation or absent in other disease states. However, the massa intermedia may also be absent in up to 30% of normal human brains. To the best of my knowledge, detailed imaging findings of massa intermedia duplication have only been described in a single case report. An additional case of thalamic massa intermedia duplication discovered on a routine brain MR performed for dysmorphic facial features is reported herein.

  8. Population differences in dysmorphic features among children with fetal alcohol spectrum disorders.

    PubMed

    May, Philip A; Gossage, J Phillip; Smith, Matthew; Tabachnick, Barbara G; Robinson, Luther K; Manning, Melanie; Cecanti, Mauro; Jones, Kenneth Lyons; Khaole, Nathaniel; Buckley, David; Kalberg, Wendy O; Trujillo, Phyllis M; Hoyme, H Eugene

    2010-05-01

    To examine the variation in significant dysmorphic features in children from 3 different populations with the most dysmorphic forms of fetal alcohol spectrum disorders, fetal alcohol syndrome (FAS), and partial fetal alcohol syndrome (PFAS). Advanced multiple regression techniques are used to determine the discriminating physical features in the diagnosis of FAS and PFAS among children from Northern Plains Indian communities, South Africa, and Italy. Within the range of physical features used to identify children with fetal alcohol spectrum disorders, specifically FAS and PFAS, there is some significant variation in salient diagnostic features from one population to the next. Intraclass correlations in diagnostic features between these 3 populations is 0.20, indicating that about 20% of the variability in dysmorphology core features is associated with location and, therefore, specific racial/ethnic population. The highly significant diagnostic indicators present in each population are identified for the full samples of FAS, PFAS, and normals and also among children with FAS only. A multilevel model for these populations combined indicates that these variables predict dysmorphology unambiguously: small palpebral fissures, narrow vermillion, smooth philtrum, flat nasal bridge, and fifth finger clinodactyly. Long philtrum varies substantially as a predictor in the 3 populations. Predictors not significantly related to fetal alcohol spectrum disorders dysmorphology across the 3 populations are centile of height (except in Italy) strabismus, interpupilary distance, intercanthal distance, and heart murmurs. The dysmorphology associated with FAS and PFAS vary across populations, yet a particular array of common features occurs in each population, which permits a consistent diagnosis across populations.

  9. An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3).

    PubMed

    Dimitri, Paul; De Franco, Elisa; Habeb, Abdelhadi M; Gurbuz, Fatih; Moussa, Khairya; Taha, Doris; Wales, Jerry K H; Hogue, Jacob; Slavotinek, Anne; Shetty, Ambika; Balasubramanian, Meena

    2016-07-01

    Neonatal diabetes and hypothyroidism (NDH) syndrome was first described in 2003 in a consanguineous Saudi Arabian family where two out of four siblings were reported to have presented with proportionate IUGR, neonatal non-autoimmune diabetes mellitus, severe congenital hypothyroidism, cholestasis, congenital glaucoma, and polycystic kidneys. Liver disease progressed to hepatic fibrosis. The renal disease was characterized by enlarged kidneys and multiple small cysts with deficient cortico-medullary junction differentiation and normal kidney function. There was minor facial dysmorphism (depressed nasal bridge, large anterior fontanelle, long philtrum) reported but no facial photographs were published. Mutations in the transcription factor GLI-similar 3 (GLIS3) gene in the original family and two other families were subsequently reported in 2006. All affected individuals had neonatal diabetes, congenital hypothyroidism but glaucoma and liver and kidney involvement were less consistent features. Detailed descriptions of the facial dysmorphism have not been reported previously. In this report, we describe the common facial dysmorphism consisting of bilateral low-set ears, depressed nasal bridge with overhanging columella, elongated, upslanted palpebral fissures, persistent long philtrum with a thin vermilion border of the upper lip in a cohort of seven patients with GLIS3 mutations and report the emergence of a distinct, probably recognizable facial gestalt in this group which evolves with age. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  10. Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect?

    PubMed

    Sabry, M A; al-Saleh, Q; al-Saw'an, R; al-Awadi, S A; Farag, T I

    1995-07-01

    A Somali female baby with right upper limb triplication, polythelia, left sided hemihypertrophy, congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis is described. It seems that the above described pattern of anomalies has not been reported before. The possible developmental genetic mechanism responsible for this phenotype is briefly discussed.

  11. Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect?

    PubMed Central

    Sabry, M A; al-Saleh, Q; al-Saw'an, R; al-Awadi, S A; Farag, T I

    1995-01-01

    A Somali female baby with right upper limb triplication, polythelia, left sided hemihypertrophy, congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis is described. It seems that the above described pattern of anomalies has not been reported before. The possible developmental genetic mechanism responsible for this phenotype is briefly discussed. Images PMID:7562971

  12. Facial soft biometric features for forensic face recognition.

    PubMed

    Tome, Pedro; Vera-Rodriguez, Ruben; Fierrez, Julian; Ortega-Garcia, Javier

    2015-12-01

    This paper proposes a functional feature-based approach useful for real forensic caseworks, based on the shape, orientation and size of facial traits, which can be considered as a soft biometric approach. The motivation of this work is to provide a set of facial features, which can be understood by non-experts such as judges and support the work of forensic examiners who, in practice, carry out a thorough manual comparison of face images paying special attention to the similarities and differences in shape and size of various facial traits. This new approach constitutes a tool that automatically converts a set of facial landmarks to a set of features (shape and size) corresponding to facial regions of forensic value. These features are furthermore evaluated in a population to generate statistics to support forensic examiners. The proposed features can also be used as additional information that can improve the performance of traditional face recognition systems. These features follow the forensic methodology and are obtained in a continuous and discrete manner from raw images. A statistical analysis is also carried out to study the stability, discrimination power and correlation of the proposed facial features on two realistic databases: MORPH and ATVS Forensic DB. Finally, the performance of both continuous and discrete features is analyzed using different similarity measures. Experimental results show high discrimination power and good recognition performance, especially for continuous features. A final fusion of the best systems configurations achieves rank 10 match results of 100% for ATVS database and 75% for MORPH database demonstrating the benefits of using this information in practice. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  13. De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features.

    PubMed

    Webster, Emily; Cho, Megan T; Alexander, Nora; Desai, Sonal; Naidu, Sakkubai; Bekheirnia, Mir Reza; Lewis, Andrea; Retterer, Kyle; Juusola, Jane; Chung, Wendy K

    2016-11-01

    Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein ( PHIP ) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. A nonsense mutation in PHIP has previously been associated with similar clinical features. Patients with microdeletions of 6q14.1, including PHIP , have a similar phenotype of developmental delay, intellectual disability, hypotonia, and obesity, suggesting that the phenotype of our patients is a result of loss-of-function mutations. PHIP produces multiple protein products, such as PHIP1 (also known as DCAF14), PHIP, and NDRP. PHIP1 is one of the multiple substrate receptors of the proteolytic CUL4-DDB1 ubiquitin ligase complex. CUL4B deficiency has been associated with intellectual disability, central obesity, muscle wasting, and dysmorphic features. The overlapping phenotype associated with CUL4B deficiency suggests that PHIP mutations cause disease through disruption of the ubiquitin ligase pathway.

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

    PubMed

    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.

  15. Perceived Attractiveness, Facial Features, and African Self-Consciousness.

    ERIC Educational Resources Information Center

    Chambers, John W., Jr.; And Others

    1994-01-01

    Investigated relationships between perceived attractiveness, facial features, and African self-consciousness (ASC) among 149 African American college students. As predicted, high ASC subjects used more positive adjectives in descriptions of strong African facial features than did medium or low ASC subjects. Results are discussed in the context of…

  16. Prevalence of Body Dysmorphic Disorder Symptoms and Associated Clinical Features among Australian University Students

    ERIC Educational Resources Information Center

    Bartsch, Dianna

    2007-01-01

    The current study addressed the frequency of body dysmorphic disorder (BDD) symptoms among university students and investigated the predictors of dysmorphic concern. Six hundred and nineteen Australian university students completed measures assessing BDD, dysmorphic concern, self-esteem, depression, life satisfaction, self-oriented and socially…

  17. Dynamic facial expression recognition based on geometric and texture features

    NASA Astrophysics Data System (ADS)

    Li, Ming; Wang, Zengfu

    2018-04-01

    Recently, dynamic facial expression recognition in videos has attracted growing attention. In this paper, we propose a novel dynamic facial expression recognition method by using geometric and texture features. In our system, the facial landmark movements and texture variations upon pairwise images are used to perform the dynamic facial expression recognition tasks. For one facial expression sequence, pairwise images are created between the first frame and each of its subsequent frames. Integration of both geometric and texture features further enhances the representation of the facial expressions. Finally, Support Vector Machine is used for facial expression recognition. Experiments conducted on the extended Cohn-Kanade database show that our proposed method can achieve a competitive performance with other methods.

  18. Clinical features of body dysmorphic disorder in adolescents and adults

    PubMed Central

    Phillips, Katharine A.; Didie, Elizabeth R.; Menard, William; Pagano, Maria E.; Fay, Christina; Weisberg, Risa B.

    2006-01-01

    Body dysmorphic disorder (BDD) usually begins during adolescence, but its clinical features have received little investigation in this age group. Two hundred individuals with BDD (36 adolescents; 164 adults) completed interviewer-administered and self-report measures. Adolescents were preoccupied with numerous aspects of their appearance, most often their skin, hair, and stomach. Among the adolescents, 94.3% reported moderate, severe, or extreme distress due to BDD, 80.6% had a history of suicidal ideation, and 44.4% had attempted suicide. Adolescents experienced high rates and levels of impairment in school, work, and other aspects of psychosocial functioning. Adolescents and adults were comparable on most variables, although adolescents had significantly more delusional BDD beliefs and a higher lifetime rate of suicide attempts. Thus, adolescents with BDD have high levels of distress and rates of functional impairment, suicidal ideation, and suicide attempts. BDD’s clinical features in adolescents appear largely similar to those in adults. PMID:16499973

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

    PubMed Central

    Tender, Jennifer A.F.; Ferreira, Carlos R.

    2018-01-01

    BACKGROUND: 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. OBJECTIVE: To describe two siblings with features consistent with CFTD with a novel homozygous p.Arg114* pathogenic variant in the TMCO1 gene. METHODS: 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. CONCLUSION: 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. PMID:29682451

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

    PubMed

    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.

  1. Feature selection from a facial image for distinction of sasang constitution.

    PubMed

    Koo, Imhoi; Kim, Jong Yeol; Kim, Myoung Geun; Kim, Keun Ho

    2009-09-01

    Recently, oriental medicine has received attention for providing personalized medicine through consideration of the unique nature and constitution of individual patients. With the eventual goal of globalization, the current trend in oriental medicine research is the standardization by adopting western scientific methods, which could represent a scientific revolution. The purpose of this study is to establish methods for finding statistically significant features in a facial image with respect to distinguishing constitution and to show the meaning of those features. From facial photo images, facial elements are analyzed in terms of the distance, angle and the distance ratios, for which there are 1225, 61 250 and 749 700 features, respectively. Due to the very large number of facial features, it is quite difficult to determine truly meaningful features. We suggest a process for the efficient analysis of facial features including the removal of outliers, control for missing data to guarantee data confidence and calculation of statistical significance by applying ANOVA. We show the statistical properties of selected features according to different constitutions using the nine distances, 10 angles and 10 rates of distance features that are finally established. Additionally, the Sasang constitutional meaning of the selected features is shown here.

  2. Extraction and representation of common feature from uncertain facial expressions with cloud model.

    PubMed

    Wang, Shuliang; Chi, Hehua; Yuan, Hanning; Geng, Jing

    2017-12-01

    Human facial expressions are key ingredient to convert an individual's innate emotion in communication. However, the variation of facial expressions affects the reliable identification of human emotions. In this paper, we present a cloud model to extract facial features for representing human emotion. First, the uncertainties in facial expression are analyzed in the context of cloud model. The feature extraction and representation algorithm is established under cloud generators. With forward cloud generator, facial expression images can be re-generated as many as we like for visually representing the extracted three features, and each feature shows different roles. The effectiveness of the computing model is tested on Japanese Female Facial Expression database. Three common features are extracted from seven facial expression images. Finally, the paper is concluded and remarked.

  3. Selective attention to a facial feature with and without facial context: an ERP-study.

    PubMed

    Wijers, A A; Van Besouw, N J P; Mulder, G

    2002-04-01

    The present experiment addressed the question whether selectively attending to a facial feature (mouth shape) would benefit from the presence of a correct facial context. Subjects attended selectively to one of two possible mouth shapes belonging to photographs of a face with a happy or sad expression, respectively. These mouths were presented randomly either in isolation, embedded in the original photos, or in an exchanged facial context. The ERP effect of attending mouth shape was a lateral posterior negativity, anterior positivity with an onset latency of 160-200 ms; this effect was completely unaffected by the type of facial context. When the mouth shape and the facial context conflicted, this resulted in a medial parieto-occipital positivity with an onset latency of 180 ms, independent of the relevance of the mouth shape. Finally, there was a late (onset at approx. 400 ms) expression (happy vs. sad) effect, which was strongly lateralized to the right posterior hemisphere and was most prominent for attended stimuli in the correct facial context. For the isolated mouth stimuli, a similarly distributed expression effect was observed at an earlier latency range (180-240 ms). These data suggest the existence of separate, independent and neuroanatomically segregated processors engaged in the selective processing of facial features and the detection of contextual congruence and emotional expression of face stimuli. The data do not support that early selective attention processes benefit from top-down constraints provided by the correct facial context.

  4. Feature Selection from a Facial Image for Distinction of Sasang Constitution

    PubMed Central

    Koo, Imhoi; Kim, Jong Yeol; Kim, Myoung Geun

    2009-01-01

    Recently, oriental medicine has received attention for providing personalized medicine through consideration of the unique nature and constitution of individual patients. With the eventual goal of globalization, the current trend in oriental medicine research is the standardization by adopting western scientific methods, which could represent a scientific revolution. The purpose of this study is to establish methods for finding statistically significant features in a facial image with respect to distinguishing constitution and to show the meaning of those features. From facial photo images, facial elements are analyzed in terms of the distance, angle and the distance ratios, for which there are 1225, 61 250 and 749 700 features, respectively. Due to the very large number of facial features, it is quite difficult to determine truly meaningful features. We suggest a process for the efficient analysis of facial features including the removal of outliers, control for missing data to guarantee data confidence and calculation of statistical significance by applying ANOVA. We show the statistical properties of selected features according to different constitutions using the nine distances, 10 angles and 10 rates of distance features that are finally established. Additionally, the Sasang constitutional meaning of the selected features is shown here. PMID:19745013

  5. Features versus context: An approach for precise and detailed detection and delineation of faces and facial features.

    PubMed

    Ding, Liya; Martinez, Aleix M

    2010-11-01

    The appearance-based approach to face detection has seen great advances in the last several years. In this approach, we learn the image statistics describing the texture pattern (appearance) of the object class we want to detect, e.g., the face. However, this approach has had limited success in providing an accurate and detailed description of the internal facial features, i.e., eyes, brows, nose, and mouth. In general, this is due to the limited information carried by the learned statistical model. While the face template is relatively rich in texture, facial features (e.g., eyes, nose, and mouth) do not carry enough discriminative information to tell them apart from all possible background images. We resolve this problem by adding the context information of each facial feature in the design of the statistical model. In the proposed approach, the context information defines the image statistics most correlated with the surroundings of each facial component. This means that when we search for a face or facial feature, we look for those locations which most resemble the feature yet are most dissimilar to its context. This dissimilarity with the context features forces the detector to gravitate toward an accurate estimate of the position of the facial feature. Learning to discriminate between feature and context templates is difficult, however, because the context and the texture of the facial features vary widely under changing expression, pose, and illumination, and may even resemble one another. We address this problem with the use of subclass divisions. We derive two algorithms to automatically divide the training samples of each facial feature into a set of subclasses, each representing a distinct construction of the same facial component (e.g., closed versus open eyes) or its context (e.g., different hairstyles). The first algorithm is based on a discriminant analysis formulation. The second algorithm is an extension of the AdaBoost approach. We provide

  6. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.

    PubMed

    Steinfeld, Hallie; Cho, Megan T; Retterer, Kyle; Person, Rick; Schaefer, G Bradley; Danylchuk, Noelle; Malik, Saleem; Wechsler, Stephanie Burns; Wheeler, Patricia G; van Gassen, Koen L I; Terhal, P A; Verhoeven, Virginie J M; van Slegtenhorst, Marjon A; Monaghan, Kristin G; Henderson, Lindsay B; Chung, Wendy K

    2016-07-01

    Human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2) has been previously associated with intellectual disability and developmental delay in three patients. Here, we describe six patients with developmental delay, intellectual disability, and dysmorphic features with de novo likely gene-damaging variants in HIVEP2 identified by whole-exome sequencing (WES). HIVEP2 encodes a large transcription factor that regulates various neurodevelopmental pathways. Our findings provide further evidence that pathogenic variants in HIVEP2 lead to intellectual disabilities and developmental delay.

  7. Person-independent facial expression analysis by fusing multiscale cell features

    NASA Astrophysics Data System (ADS)

    Zhou, Lubing; Wang, Han

    2013-03-01

    Automatic facial expression recognition is an interesting and challenging task. To achieve satisfactory accuracy, deriving a robust facial representation is especially important. A novel appearance-based feature, the multiscale cell local intensity increasing patterns (MC-LIIP), to represent facial images and conduct person-independent facial expression analysis is presented. The LIIP uses a decimal number to encode the texture or intensity distribution around each pixel via pixel-to-pixel intensity comparison. To boost noise resistance, MC-LIIP carries out comparison computation on the average values of scalable cells instead of individual pixels. The facial descriptor fuses region-based histograms of MC-LIIP features from various scales, so as to encode not only textural microstructures but also the macrostructures of facial images. Finally, a support vector machine classifier is applied for expression recognition. Experimental results on the CK+ and Karolinska directed emotional faces databases show the superiority of the proposed method.

  8. Cosmetic Professionals' Awareness of Body Dysmorphic Disorder.

    PubMed

    Bouman, Theo K; Mulkens, Sandra; van der Lei, Berend

    2017-02-01

    Preoccupation with a perceived appearance flaw is the main feature of body dysmorphic disorder. The majority of these patients seek and often receive some sort of cosmetic procedure, although this condition is considered to be a contraindication. This study evaluates cosmetic professionals' recognition of body dysmorphic disorder and the way they act on this. Members of Dutch professional associations for aesthetic plastic surgery, dermatology, and cosmetic medicine received an online survey by means of their association's digital mailing lists; the survey was completed by 173 respondents. Most participants indicated being more or less familiar with the diagnostic criteria and clinical picture of body dysmorphic disorder. Approximately two-thirds of the participants reported that they had encountered between one and five of these patients in their practice over the past year, a percentage that is significantly lower than the estimated prevalence of body dysmorphic disorder. The majority of professionals sometimes or often address body image problems during consultation, most of them collaborate with psychologists or psychiatrists when encountering a patient with body dysmorphic disorder, and approximately 70 percent had refused to perform a procedure in such a patient. Our results converge with those of previous studies, showing that most cosmetic professionals have some degree of awareness of body dysmorphic disorder, although the number they report encountering in clinical practice departs from prevalence figures. When a patient is identified as having body dysmorphic disorder, the professionals use this knowledge to guide their decision to perform a cosmetic procedure.

  9. Dysmorphism of the middle ear: case report

    PubMed Central

    Solero, P; Ferrara, M; Musto, R; Pira, A; Di Lisi, D

    2005-01-01

    Summary Although there are numerous publications in the literature describing the wide range of diagnosis, classifications and treatment of malformations of the hearing apparatus, even more variations can be found in clinical practice. Indeed, each individual case is unique as far as concerns pathogenesis, clinical course and treatment. The case reported herein describes a 12-year-old boy affected by cranio-facial dysmorphism and monolateral conductive hearing loss in the right ear: followed from radiological diagnosis – carried out to study a malformation of the ear pinna – to surgical treatment. PMID:16602328

  10. The normal-equivalent: a patient-specific assessment of facial harmony.

    PubMed

    Claes, P; Walters, M; Gillett, D; Vandermeulen, D; Clement, J G; Suetens, P

    2013-09-01

    Evidence-based practice in oral and maxillofacial surgery would greatly benefit from an objective assessment of facial harmony or gestalt. Normal reference faces have previously been introduced, but they describe harmony in facial form as an average only and fail to report on harmonic variations found between non-dysmorphic faces. In this work, facial harmony, in all its complexity, is defined using a face-space, which describes all possible variations within a non-dysmorphic population; this was sampled here, based on 400 healthy subjects. Subsequently, dysmorphometrics, which involves the measurement of morphological abnormalities, is employed to construct the normal-equivalent within the given face-space of a presented dysmorphic face. The normal-equivalent can be seen as a synthetic identical but unaffected twin that is a patient-specific and population-based normal. It is used to extract objective scores of facial discordancy. This technique, along with a comparing approach, was used on healthy subjects to establish ranges of discordancy that are accepted to be normal, as well as on two patient examples before and after surgical intervention. The specificity of the presented normal-equivalent approach was confirmed by correctly attributing abnormality and providing regional depictions of the known dysmorphologies. Furthermore, it proved to be superior to the comparing approach. Copyright © 2013 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  11. Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

    PubMed

    van der Crabben, Saskia N; Harakalova, Magdalena; Brilstra, Eva H; van Berkestijn, Frédérique M C; Hofstede, Floris C; van Vught, Adrianus J; Cuppen, Edwin; Kloosterman, Wigard; Ploos van Amstel, Hans Kristian; van Haaften, Gijs; van Haelst, Mieke M

    2014-01-01

    Phosphatidyl inositol glycan (PIG) enzyme subclasses are involved in distinct steps of glycosyl phosphatidyl inositol anchor protein biosynthesis. Glycolsyl phosphatidyl inositol-anchored proteins have heterogeneous functions; they can function as enzymes, adhesion molecules, complement regulators and co-receptors in signal transduction pathways. Germline mutations in genes encoding different members of the PIG family result in diverse conditions with (severe) developmental delay, (neonatal) seizures, hypotonia, CNS abnormalities, growth abnormalities, and congenital abnormalities as hallmark features. The variability of clinical features resembles the typical diversity of other glycosylation pathway deficiencies such as the congenital disorders of glycosylation. Here, we report the first germline missense mutation in the PIGA gene associated with accelerated linear growth, obesity, central hypotonia, severe refractory epilepsy, cardiac anomalies, mild facial dysmorphic features, mildly elevated alkaline phosphatase levels, and CNS anomalies consisting of progressive cerebral atrophy, insufficient myelinization, and cortical MRI signal abnormalities. X-exome sequencing in the proband identified a c.278C>T (p.Pro93Leu) mutation in the PIGA gene. The mother and maternal grandmother were unaffected carriers and the mother showed 100% skewing of the X-chromosome harboring the mutation. These results together with the clinical similarity of the patient reported here and the previously reported patients with a germline nonsense mutation in PIGA support the determination that this mutation caused the phenotype in this family. © 2013 Wiley Periodicals, Inc.

  12. Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.

    PubMed

    Alfei, Enrico; Raviglione, Federico; Franceschetti, Silvana; D'Arrigo, Stefano; Milani, Donatella; Selicorni, Angelo; Riva, Daria; Zuffardi, Orsetta; Pantaleoni, Chiara; Binelli, Simona

    2014-12-01

    Epilepsy is one of the most common findings in chromosome aberrations. Types of seizures and severity may significantly vary both between different conditions and within the same aberration. Hitherto specific seizures and EEG patterns are identified for only few syndromes. We studied 74 patients with defined genetic-dysmorphic syndromes with and without epilepsy in order to assess clinical and electroencephalographic features, to compare our observation with already described electro-clinical phenotypes, and to identify putative electroencephalographic and/or seizure characteristics useful to address the diagnosis. In our population, 10 patients had chromosomal disorders, 19 microdeletion or microduplication syndromes, and 32 monogenic syndromes. In the remaining 13, syndrome diagnosis was assessed on clinical grounds. Our study confirmed the high incidence of epilepsy in genetic-dysmorphic syndromes. Moreover, febrile seizures and neonatal seizures had a higher incidence compared to general population. In addition, more than one third of epileptic patients had drug-resistant epilepsy. EEG study revealed poor background organization in 42 patients, an excess of diffuse rhythmic activities in beta, alpha or theta frequency bands in 34, and epileptiform patterns in 36. EEG was completely normal only in 20 patients. No specific electro-clinical pattern was identified, except for inv-dup15, Angelman, and Rett syndromes. Nevertheless some specific conditions are described in detail, because of notable differences from what previously reported. Regarding the diagnostic role of EEG, we found that--even without any epileptiform pattern--the generation of excessive rhythmic activities in different frequency bandwidths might support the diagnosis of a genetic syndrome. © 2014 Wiley Periodicals, Inc.

  13. Prevalence of body dysmorphic disorder and associated features in German adolescents: A self-report survey.

    PubMed

    Möllmann, Anne; Dietel, Fanny A; Hunger, Antje; Buhlmann, Ulrike

    2017-08-01

    Prior research has not yet investigated the prevalence of body dysmorphic disorder (BDD) in adolescents and young adults based on criteria from the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5). In the current study, the point prevalence of BDD, comorbid symptoms, and associated features, such as appearance-related suicidality, level of insight or history of plastic surgeries, were examined in a non-clinical sample of German adolescents and young adults (n=308), between 15 and 21 years old, using self-report measures. Eleven participants (3.6%; 95% CI=[1.9, 5.8]) met DSM-5 criteria for BDD. Self-reported BDD (vs. no-BDD) was related to respondents showing significantly more obsessive-compulsive (OC) symptoms and lower degrees of insight regarding appearance concerns. Significantly more adolescents and young adults with vs. without self-reported BDD (36.4% vs. 8.8%) reported appearance-related suicidal ideation. In conclusion, body dysmorphic symptoms are common in adolescents and young adults and are associated with high rates of comorbid symptoms and suicidal ideation. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  14. Young Children's Ability to Match Facial Features Typical of Race.

    ERIC Educational Resources Information Center

    Lacoste, Ronald J.

    This study examined (1) the ability of 3- and 4-year-old children to racially classify Negro and Caucasian facial features in the absence of skin color as a racial cue; and (2) the relative value attached to the facial features of Negro and Caucasian races. Subjects were 21 middle income, Caucasian children from a privately owned nursery school in…

  15. High-resolution face verification using pore-scale facial features.

    PubMed

    Li, Dong; Zhou, Huiling; Lam, Kin-Man

    2015-08-01

    Face recognition methods, which usually represent face images using holistic or local facial features, rely heavily on alignment. Their performances also suffer a severe degradation under variations in expressions or poses, especially when there is one gallery per subject only. With the easy access to high-resolution (HR) face images nowadays, some HR face databases have recently been developed. However, few studies have tackled the use of HR information for face recognition or verification. In this paper, we propose a pose-invariant face-verification method, which is robust to alignment errors, using the HR information based on pore-scale facial features. A new keypoint descriptor, namely, pore-Principal Component Analysis (PCA)-Scale Invariant Feature Transform (PPCASIFT)-adapted from PCA-SIFT-is devised for the extraction of a compact set of distinctive pore-scale facial features. Having matched the pore-scale features of two-face regions, an effective robust-fitting scheme is proposed for the face-verification task. Experiments show that, with one frontal-view gallery only per subject, our proposed method outperforms a number of standard verification methods, and can achieve excellent accuracy even the faces are under large variations in expression and pose.

  16. Visual selective attention in body dysmorphic disorder, bulimia nervosa and healthy controls.

    PubMed

    Kollei, Ines; Horndasch, Stefanie; Erim, Yesim; Martin, Alexandra

    2017-01-01

    Cognitive behavioral models postulate that selective attention plays an important role in the maintenance of body dysmorphic disorder (BDD). It is suggested that individuals with BDD overfocus on perceived defects in their appearance, which may contribute to the excessive preoccupation with their appearance. The present study used eye tracking to examine visual selective attention in individuals with BDD (n=19), as compared to individuals with bulimia nervosa (BN) (n=21) and healthy controls (HCs) (n=21). Participants completed interviews, questionnaires, rating scales and an eye tracking task: Eye movements were recorded while participants viewed photographs of their own face and attractive as well as unattractive other faces. Eye tracking data showed that BDD and BN participants focused less on their self-rated most attractive facial part than HCs. Scanning patterns in own and other faces showed that BDD and BN participants paid as much attention to attractive as to unattractive features in their own face, whereas they focused more on attractive features in attractive other faces. HCs paid more attention to attractive features in their own face and did the same in attractive other faces. Results indicate an attentional bias in BDD and BN participants manifesting itself in a neglect of positive features compared to HCs. Perceptual retraining may be an important aspect to focus on in therapy in order to overcome the neglect of positive facial aspects. Future research should aim to disentangle attentional processes in BDD by examining the time course of attentional processing. Copyright © 2016 Elsevier Inc. All rights reserved.

  17. Effects of face feature and contour crowding in facial expression adaptation.

    PubMed

    Liu, Pan; Montaser-Kouhsari, Leila; Xu, Hong

    2014-12-01

    Prolonged exposure to a visual stimulus, such as a happy face, biases the perception of subsequently presented neutral face toward sad perception, the known face adaptation. Face adaptation is affected by visibility or awareness of the adapting face. However, whether it is affected by discriminability of the adapting face is largely unknown. In the current study, we used crowding to manipulate discriminability of the adapting face and test its effect on face adaptation. Instead of presenting flanking faces near the target face, we shortened the distance between facial features (internal feature crowding), and reduced the size of face contour (external contour crowding), to introduce crowding. We are interested in whether internal feature crowding or external contour crowding is more effective in inducing crowding effect in our first experiment. We found that combining internal feature and external contour crowding, but not either of them alone, induced significant crowding effect. In Experiment 2, we went on further to investigate its effect on adaptation. We found that both internal feature crowding and external contour crowding reduced its facial expression aftereffect (FEA) significantly. However, we did not find a significant correlation between discriminability of the adapting face and its FEA. Interestingly, we found a significant correlation between discriminabilities of the adapting and test faces. Experiment 3 found that the reduced adaptation aftereffect in combined crowding by the external face contour and the internal facial features cannot be decomposed into the effects from the face contour and facial features linearly. It thus suggested a nonlinear integration between facial features and face contour in face adaptation.

  18. iFER: facial expression recognition using automatically selected geometric eye and eyebrow features

    NASA Astrophysics Data System (ADS)

    Oztel, Ismail; Yolcu, Gozde; Oz, Cemil; Kazan, Serap; Bunyak, Filiz

    2018-03-01

    Facial expressions have an important role in interpersonal communications and estimation of emotional states or intentions. Automatic recognition of facial expressions has led to many practical applications and became one of the important topics in computer vision. We present a facial expression recognition system that relies on geometry-based features extracted from eye and eyebrow regions of the face. The proposed system detects keypoints on frontal face images and forms a feature set using geometric relationships among groups of detected keypoints. Obtained feature set is refined and reduced using the sequential forward selection (SFS) algorithm and fed to a support vector machine classifier to recognize five facial expression classes. The proposed system, iFER (eye-eyebrow only facial expression recognition), is robust to lower face occlusions that may be caused by beards, mustaches, scarves, etc. and lower face motion during speech production. Preliminary experiments on benchmark datasets produced promising results outperforming previous facial expression recognition studies using partial face features, and comparable results to studies using whole face information, only slightly lower by ˜ 2.5 % compared to the best whole face facial recognition system while using only ˜ 1 / 3 of the facial region.

  19. Interpretation of Appearance: The Effect of Facial Features on First Impressions and Personality

    PubMed Central

    Wolffhechel, Karin; Fagertun, Jens; Jacobsen, Ulrik Plesner; Majewski, Wiktor; Hemmingsen, Astrid Sofie; Larsen, Catrine Lohmann; Lorentzen, Sofie Katrine; Jarmer, Hanne

    2014-01-01

    Appearance is known to influence social interactions, which in turn could potentially influence personality development. In this study we focus on discovering the relationship between self-reported personality traits, first impressions and facial characteristics. The results reveal that several personality traits can be read above chance from a face, and that facial features influence first impressions. Despite the former, our prediction model fails to reliably infer personality traits from either facial features or first impressions. First impressions, however, could be inferred more reliably from facial features. We have generated artificial, extreme faces visualising the characteristics having an effect on first impressions for several traits. Conclusively, we find a relationship between first impressions, some personality traits and facial features and consolidate that people on average assess a given face in a highly similar manner. PMID:25233221

  20. Interpretation of appearance: the effect of facial features on first impressions and personality.

    PubMed

    Wolffhechel, Karin; Fagertun, Jens; Jacobsen, Ulrik Plesner; Majewski, Wiktor; Hemmingsen, Astrid Sofie; Larsen, Catrine Lohmann; Lorentzen, Sofie Katrine; Jarmer, Hanne

    2014-01-01

    Appearance is known to influence social interactions, which in turn could potentially influence personality development. In this study we focus on discovering the relationship between self-reported personality traits, first impressions and facial characteristics. The results reveal that several personality traits can be read above chance from a face, and that facial features influence first impressions. Despite the former, our prediction model fails to reliably infer personality traits from either facial features or first impressions. First impressions, however, could be inferred more reliably from facial features. We have generated artificial, extreme faces visualising the characteristics having an effect on first impressions for several traits. Conclusively, we find a relationship between first impressions, some personality traits and facial features and consolidate that people on average assess a given face in a highly similar manner.

  1. Facial feature tracking: a psychophysiological measure to assess exercise intensity?

    PubMed

    Miles, Kathleen H; Clark, Bradley; Périard, Julien D; Goecke, Roland; Thompson, Kevin G

    2018-04-01

    The primary aim of this study was to determine whether facial feature tracking reliably measures changes in facial movement across varying exercise intensities. Fifteen cyclists completed three, incremental intensity, cycling trials to exhaustion while their faces were recorded with video cameras. Facial feature tracking was found to be a moderately reliable measure of facial movement during incremental intensity cycling (intra-class correlation coefficient = 0.65-0.68). Facial movement (whole face (WF), upper face (UF), lower face (LF) and head movement (HM)) increased with exercise intensity, from lactate threshold one (LT1) until attainment of maximal aerobic power (MAP) (WF 3464 ± 3364mm, P < 0.005; UF 1961 ± 1779mm, P = 0.002; LF 1608 ± 1404mm, P = 0.002; HM 849 ± 642mm, P < 0.001). UF movement was greater than LF movement at all exercise intensities (UF minus LF at: LT1, 1048 ± 383mm; LT2, 1208 ± 611mm; MAP, 1401 ± 712mm; P < 0.001). Significant medium to large non-linear relationships were found between facial movement and power output (r 2  = 0.24-0.31), HR (r 2  = 0.26-0.33), [La - ] (r 2  = 0.33-0.44) and RPE (r 2  = 0.38-0.45). The findings demonstrate the potential utility of facial feature tracking as a non-invasive, psychophysiological measure to potentially assess exercise intensity.

  2. Cost-Sensitive Local Binary Feature Learning for Facial Age Estimation.

    PubMed

    Lu, Jiwen; Liong, Venice Erin; Zhou, Jie

    2015-12-01

    In this paper, we propose a cost-sensitive local binary feature learning (CS-LBFL) method for facial age estimation. Unlike the conventional facial age estimation methods that employ hand-crafted descriptors or holistically learned descriptors for feature representation, our CS-LBFL method learns discriminative local features directly from raw pixels for face representation. Motivated by the fact that facial age estimation is a cost-sensitive computer vision problem and local binary features are more robust to illumination and expression variations than holistic features, we learn a series of hashing functions to project raw pixel values extracted from face patches into low-dimensional binary codes, where binary codes with similar chronological ages are projected as close as possible, and those with dissimilar chronological ages are projected as far as possible. Then, we pool and encode these local binary codes within each face image as a real-valued histogram feature for face representation. Moreover, we propose a cost-sensitive local binary multi-feature learning method to jointly learn multiple sets of hashing functions using face patches extracted from different scales to exploit complementary information. Our methods achieve competitive performance on four widely used face aging data sets.

  3. Computer-Aided Recognition of Facial Attributes for Fetal Alcohol Spectrum Disorders.

    PubMed

    Valentine, Matthew; Bihm, Dustin C J; Wolf, Lior; Hoyme, H Eugene; May, Philip A; Buckley, David; Kalberg, Wendy; Abdul-Rahman, Omar A

    2017-12-01

    To compare the detection of facial attributes by computer-based facial recognition software of 2-D images against standard, manual examination in fetal alcohol spectrum disorders (FASD). Participants were gathered from the Fetal Alcohol Syndrome Epidemiology Research database. Standard frontal and oblique photographs of children were obtained during a manual, in-person dysmorphology assessment. Images were submitted for facial analysis conducted by the facial dysmorphology novel analysis technology (an automated system), which assesses ratios of measurements between various facial landmarks to determine the presence of dysmorphic features. Manual blinded dysmorphology assessments were compared with those obtained via the computer-aided system. Areas under the curve values for individual receiver-operating characteristic curves revealed the computer-aided system (0.88 ± 0.02) to be comparable to the manual method (0.86 ± 0.03) in detecting patients with FASD. Interestingly, cases of alcohol-related neurodevelopmental disorder (ARND) were identified more efficiently by the computer-aided system (0.84 ± 0.07) in comparison to the manual method (0.74 ± 0.04). A facial gestalt analysis of patients with ARND also identified more generalized facial findings compared to the cardinal facial features seen in more severe forms of FASD. We found there was an increased diagnostic accuracy for ARND via our computer-aided method. As this category has been historically difficult to diagnose, we believe our experiment demonstrates that facial dysmorphology novel analysis technology can potentially improve ARND diagnosis by introducing a standardized metric for recognizing FASD-associated facial anomalies. Earlier recognition of these patients will lead to earlier intervention with improved patient outcomes. Copyright © 2017 by the American Academy of Pediatrics.

  4. A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis.

    PubMed

    Sahin, Yavuz; Güngör, Olcay; Ayaz, Akif; Güngör, Gülay; Sahin, Bedia; Yaykasli, Kursad; Ceylaner, Serdar

    2017-02-01

    Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report the clinical, radiologic and molecular investigations of three patients admitted for HCFP in a large consanguineous Turkish family. High-throughput sequencing and Sanger sequencing of all patients revealed a novel homozygous mutation p.Arg230Trp (c.688C>T) within the HOXB1 gene. The report of the mutation brings the total number of HOXB1 mutations identified in HCFP to four. The results of this study emphasize that in individuals with congenital facial palsy accompanied by hearing loss and dysmorphic facial features, HOXB1 mutation causing HCFP should be kept in mind. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  5. Gender similarities and differences in 200 individuals with body dysmorphic disorder⋆

    PubMed Central

    Phillips, Katharine A.; Menard, William; Fay, Christina

    2006-01-01

    Background Gender is a critically important moderator of psychopathology. However, gender similarities and differences in body dysmorphic disorder (BDD) have received scant investigation. In this study, we examined gender similarities and differences in the broadest sample in which this topic has been examined. Methods Two hundred subjects with BDD recruited from diverse sources were assessed with a variety of standard measures. Results There were more similarities than differences between men and women, but many gender differences were found. The men were significantly older and more likely to be single and living alone. Men were more likely to obsess about their genitals, body build, and thinning hair/balding; excessively lift weights; and have a substance use disorder. In contrast, women were more likely to obsess about their skin, stomach, weight, breasts/chest, buttocks, thighs, legs, hips, toes, and excessive body/facial hair, and they were excessively concerned with more body areas. Women also performed more repetitive and safety behaviors, and were more likely to camouflage and use certain camouflaging techniques, check mirrors, change their clothes, pick their skin, and have an eating disorder. Women also had earlier onset of subclinical BDD symptoms and more severe BDD as assessed by the Body Dysmorphic Disorder Examination. However, men had more severe BDD as assessed by the Psychiatric Status Rating Scale for Body Dysmorphic Disorder, and they had poorer Global Assessment of Functioning Scale scores, were less likely to be working because of psychopathology, and were more likely to be receiving disability, including disability for BDD. Conclusions The clinical features of BDD in men and women have many similarities but also some interesting and important differences. These findings have implications for the detection and treatment of BDD. PMID:16490564

  6. Orientations for the successful categorization of facial expressions and their link with facial features.

    PubMed

    Duncan, Justin; Gosselin, Frédéric; Cobarro, Charlène; Dugas, Gabrielle; Blais, Caroline; Fiset, Daniel

    2017-12-01

    Horizontal information was recently suggested to be crucial for face identification. In the present paper, we expand on this finding and investigate the role of orientations for all the basic facial expressions and neutrality. To this end, we developed orientation bubbles to quantify utilization of the orientation spectrum by the visual system in a facial expression categorization task. We first validated the procedure in Experiment 1 with a simple plaid-detection task. In Experiment 2, we used orientation bubbles to reveal the diagnostic-i.e., task relevant-orientations for the basic facial expressions and neutrality. Overall, we found that horizontal information was highly diagnostic for expressions-surprise excepted. We also found that utilization of horizontal information strongly predicted performance level in this task. Despite the recent surge of research on horizontals, the link with local features remains unexplored. We were thus also interested in investigating this link. In Experiment 3, location bubbles were used to reveal the diagnostic features for the basic facial expressions. Crucially, Experiments 2 and 3 were run in parallel on the same participants, in an interleaved fashion. This way, we were able to correlate individual orientation and local diagnostic profiles. Our results indicate that individual differences in horizontal tuning are best predicted by utilization of the eyes.

  7. Clinical features of muscle dysmorphia among males with body dysmorphic disorder.

    PubMed

    Pope, Courtney G; Pope, Harrison G; Menard, William; Fay, Christina; Olivardia, Roberto; Phillips, Katharine A

    2005-12-01

    Muscle dysmorphia - a pathological preoccupation with muscularity - appears to be a form of body dysmorphic disorder (BDD) with a focus on muscularity. However, little is known about muscle dysmorphia in men with BDD, and no study has compared men with BDD who do and do not report muscle dysmorphia. To explore this issue, we reviewed the histories of 63 men with BDD; we compared those rated as having a history of muscle dysmorphia with those who had BDD but not muscle dysmorphia in several domains. The 14 men with muscle dysmorphia resembled the 49 comparison men in demographic features, BDD severity, delusionality, and number of non-muscle-related body parts of concern. However, those with muscle dysmorphia were more likely to have attempted suicide, had poorer quality of life, and had a higher frequency of any substance use disorder and anabolic steroid abuse. Thus, muscle dysmorphia was associated with greater psychopathology.

  8. Recognition of children on age-different images: Facial morphology and age-stable features.

    PubMed

    Caplova, Zuzana; Compassi, Valentina; Giancola, Silvio; Gibelli, Daniele M; Obertová, Zuzana; Poppa, Pasquale; Sala, Remo; Sforza, Chiarella; Cattaneo, Cristina

    2017-07-01

    The situation of missing children is one of the most emotional social issues worldwide. The search for and identification of missing children is often hampered, among others, by the fact that the facial morphology of long-term missing children changes as they grow. Nowadays, the wide coverage by surveillance systems potentially provides image material for comparisons with images of missing children that may facilitate identification. The aim of study was to identify whether facial features are stable in time and can be utilized for facial recognition by comparing facial images of children at different ages as well as to test the possible use of moles in recognition. The study was divided into two phases (1) morphological classification of facial features using an Anthropological Atlas; (2) algorithm developed in MATLAB® R2014b for assessing the use of moles as age-stable features. The assessment of facial features by Anthropological Atlases showed high mismatch percentages among observers. On average, the mismatch percentages were lower for features describing shape than for those describing size. The nose tip cleft and the chin dimple showed the best agreement between observers regarding both categorization and stability over time. Using the position of moles as a reference point for recognition of the same person on age-different images seems to be a useful method in terms of objectivity and it can be concluded that moles represent age-stable facial features that may be considered for preliminary recognition. Copyright © 2017 The Chartered Society of Forensic Sciences. Published by Elsevier B.V. All rights reserved.

  9. Attractiveness as a Function of Skin Tone and Facial Features: Evidence from Categorization Studies.

    PubMed

    Stepanova, Elena V; Strube, Michael J

    2018-01-01

    Participants rated the attractiveness and racial typicality of male faces varying in their facial features from Afrocentric to Eurocentric and in skin tone from dark to light in two experiments. Experiment 1 provided evidence that facial features and skin tone have an interactive effect on perceptions of attractiveness and mixed-race faces are perceived as more attractive than single-race faces. Experiment 2 further confirmed that faces with medium levels of skin tone and facial features are perceived as more attractive than faces with extreme levels of these factors. Black phenotypes (combinations of dark skin tone and Afrocentric facial features) were rated as more attractive than White phenotypes (combinations of light skin tone and Eurocentric facial features); ambiguous faces (combinations of Afrocentric and Eurocentric physiognomy) with medium levels of skin tone were rated as the most attractive in Experiment 2. Perceptions of attractiveness were relatively independent of racial categorization in both experiments.

  10. Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.

    PubMed

    Upadia, Jariya; Gonzales, Patrick R; Robin, Nathaniel H

    2018-04-16

    The NR2F2 gene plays an important role in angiogenesis and heart development. Moreover, this gene is involved in organogenesis in many other organs in mouse models. Variants in this gene have been reported in a number of patients with nonsyndromic atrioventricular septal defect, and in one patient with congenital heart defect and dysmorphic features. Here we report an 11-month-old Caucasian male with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect. He was later found to have a pathogenic mutation in the NR2F2 gene by whole exome sequencing. This is the second instance in which an NR2F2 mutation has been identified in a child with a congenital heart defect and other anomalies. This case suggests that some variants in NR2F2 may cause syndromic forms of congenital heart defect. © 2018 Wiley Periodicals, Inc.

  11. Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)

    PubMed Central

    Pachlopnik Schmid, Jana; Lemoine, Roxane; Nehme, Nadine; Cormier-Daire, Valéry; Revy, Patrick; Debeurme, Franck; Debré, Marianne; Nitschke, Patrick; Bole-Feysot, Christine; Legeai-Mallet, Laurence; Lim, Annick; de Villartay, Jean-Pierre; Picard, Capucine; Durandy, Anne; Fischer, Alain

    2012-01-01

    DNA polymerase ε (Polε) is a large, four-subunit polymerase that is conserved throughout the eukaryotes. Its primary function is to synthesize DNA at the leading strand during replication. It is also involved in a wide variety of fundamental cellular processes, including cell cycle progression and DNA repair/recombination. Here, we report that a homozygous single base pair substitution in POLE1 (polymerase ε 1), encoding the catalytic subunit of Polε, caused facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”) in a large, consanguineous family. The mutation resulted in alternative splicing in the conserved region of intron 34, which strongly decreased protein expression of Polε1 and also to a lesser extent the Polε2 subunit. We observed impairment in proliferation and G1- to S-phase progression in patients’ T lymphocytes. Polε1 depletion also impaired G1- to S-phase progression in B lymphocytes, chondrocytes, and osteoblasts. Our results evidence the developmental impact of a Polε catalytic subunit deficiency in humans and its causal relationship with a newly recognized, inherited disorder. PMID:23230001

  12. What's in a "face file"? Feature binding with facial identity, emotion, and gaze direction.

    PubMed

    Fitousi, Daniel

    2017-07-01

    A series of four experiments investigated the binding of facial (i.e., facial identity, emotion, and gaze direction) and non-facial (i.e., spatial location and response location) attributes. Evidence for the creation and retrieval of temporary memory face structures across perception and action has been adduced. These episodic structures-dubbed herein "face files"-consisted of both visuo-visuo and visuo-motor bindings. Feature binding was indicated by partial-repetition costs. That is repeating a combination of facial features or altering them altogether, led to faster responses than repeating or alternating only one of the features. Taken together, the results indicate that: (a) "face files" affect both action and perception mechanisms, (b) binding can take place with facial dimensions and is not restricted to low-level features (Hommel, Visual Cognition 5:183-216, 1998), and (c) the binding of facial and non-facial attributes is facilitated if the dimensions share common spatial or motor codes. The theoretical contributions of these results to "person construal" theories (Freeman, & Ambady, Psychological Science, 20(10), 1183-1188, 2011), as well as to face recognition models (Haxby, Hoffman, & Gobbini, Biological Psychiatry, 51(1), 59-67, 2000) are discussed.

  13. Clinical features of muscle dysmorphia among males with body dysmorphic disorder

    PubMed Central

    Pope, Courtney G.; Pope, Harrison G.; Menard, William; Fay, Christina; Olivardia, Roberto; Phillips, Katharine A.

    2006-01-01

    Muscle dysmorphia – a pathological preoccupation with muscularity – appears to be a form of body dysmorphic disorder (BDD) with a focus on muscularity. However, little is known about muscle dysmorphia in men with BDD, and no study has compared men with BDD who do and do not report muscle dysmorphia. To explore this issue, we reviewed the histories of 63 men with BDD; we compared those rated as having a history of muscle dysmorphia with those who had BDD but not muscle dysmorphia in several domains. The 14 men with muscle dysmorphia resembled the 49 comparison men in demographic features, BDD severity, delusionality, and number of non-muscle-related body parts of concern. However, those with muscle dysmorphia were more likely to have attempted suicide, had poorer quality of life, and had a higher frequency of any substance use disorder and anabolic steroid abuse. Thus, muscle dysmorphia was associated with greater psychopathology. PMID:17075613

  14. Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features.

    PubMed

    Bartocci, Arnaldo; Striano, Pasquale; Mancardi, Maria Margherita; Fichera, Marco; Castiglia, Lucia; Galesi, Ornella; Michelucci, Roberto; Elia, Maurizio

    2008-06-01

    Studies of epilepsy associated with chromosomal abnormalities may provide information about clinical and EEG phenotypes and possibly to identify new epilepsy genes. We describe a female patient with intractable focal epilepsy, borderline intellectual functioning, and facial dysmorphisms, in whom genetic study (i.e., karyotype and array-CGH analysis) revealed a distal trisomy 4p and distal monosomy Xq. Although any genetic hypothesis remains speculative, several genes are located in the 4p chromosome segment involved in the rearrangement, some of which may be related to epilepsy.

  15. Beauty and the beast: Psychobiologic and evolutionary perspectives on body dysmorphic disorder.

    PubMed

    Stein, Dan J; Carey, Paul D; Warwick, James

    2006-06-01

    Body dysmorphic disorder (BDD) is characterized by preoccupation with a defect in appearance. Concepts of beauty play a particularly crucial role in humans' mental and social life, and may have specific psychobiologic and evolutionary underpinnings. In particular, there is a growing literature on the neurocircuitry underpinning the body schema, body image and facial expression processing, and aesthetic and symmetry judgments. Speculatively, disruptions in cognitive-affective processes relevant to judgements about physical beauty lead to BDD.

  16. Facial expression identification using 3D geometric features from Microsoft Kinect device

    NASA Astrophysics Data System (ADS)

    Han, Dongxu; Al Jawad, Naseer; Du, Hongbo

    2016-05-01

    Facial expression identification is an important part of face recognition and closely related to emotion detection from face images. Various solutions have been proposed in the past using different types of cameras and features. Microsoft Kinect device has been widely used for multimedia interactions. More recently, the device has been increasingly deployed for supporting scientific investigations. This paper explores the effectiveness of using the device in identifying emotional facial expressions such as surprise, smile, sad, etc. and evaluates the usefulness of 3D data points on a face mesh structure obtained from the Kinect device. We present a distance-based geometric feature component that is derived from the distances between points on the face mesh and selected reference points in a single frame. The feature components extracted across a sequence of frames starting and ending by neutral emotion represent a whole expression. The feature vector eliminates the need for complex face orientation correction, simplifying the feature extraction process and making it more efficient. We applied the kNN classifier that exploits a feature component based similarity measure following the principle of dynamic time warping to determine the closest neighbors. Preliminary tests on a small scale database of different facial expressions show promises of the newly developed features and the usefulness of the Kinect device in facial expression identification.

  17. Prevalence and correlates of body dysmorphic disorder in a community sample of adolescents.

    PubMed

    Schneider, Sophie C; Turner, Cynthia M; Mond, Jonathan; Hudson, Jennifer L

    2017-06-01

    Body dysmorphic disorder typically begins in adolescence, yet little is known about the prevalence and correlates of the disorder in this age group. The current study aimed to explore the presenting features of adolescents meeting probable criteria for body dysmorphic disorder in a large community sample, and compare levels of comorbid psychopathology, quality of life and mental health service use between adolescents with probable body dysmorphic disorder and those without. Questionnaires were completed at school by 3149 adolescents: 63% male, aged 12-18 years ( M = 14.58). These assessed Diagnostic and Statistical Manual of Mental Disorders (4th ed.) body dysmorphic disorder criteria, past mental health service use and symptoms of body dysmorphic disorder, anxiety, depression, obsessive-compulsive disorder and eating disorders. In male participants, additional measures assessed quality of life, muscularity concerns, emotional symptoms, peer problems, conduct problems and hyperactivity. The prevalence of probable body dysmorphic disorder was 1.7%; there was no sex difference in prevalence, but older adolescents reported higher prevalence than younger adolescents. Probable body dysmorphic disorder participants reported substantially elevated levels of psychopathology, quality of life impairment and mental health service use compared to non-body dysmorphic disorder participants. The prevalence of body dysmorphic disorder in adolescents is similar to adult samples, and probable body dysmorphic disorder is associated with comorbidity, distress and functional impairment in a community sample. Further research is required to better understand the presentation of body dysmorphic disorder in adolescents, and to improve diagnosis and treatment.

  18. Accurate landmarking of three-dimensional facial data in the presence of facial expressions and occlusions using a three-dimensional statistical facial feature model.

    PubMed

    Zhao, Xi; Dellandréa, Emmanuel; Chen, Liming; Kakadiaris, Ioannis A

    2011-10-01

    Three-dimensional face landmarking aims at automatically localizing facial landmarks and has a wide range of applications (e.g., face recognition, face tracking, and facial expression analysis). Existing methods assume neutral facial expressions and unoccluded faces. In this paper, we propose a general learning-based framework for reliable landmark localization on 3-D facial data under challenging conditions (i.e., facial expressions and occlusions). Our approach relies on a statistical model, called 3-D statistical facial feature model, which learns both the global variations in configurational relationships between landmarks and the local variations of texture and geometry around each landmark. Based on this model, we further propose an occlusion classifier and a fitting algorithm. Results from experiments on three publicly available 3-D face databases (FRGC, BU-3-DFE, and Bosphorus) demonstrate the effectiveness of our approach, in terms of landmarking accuracy and robustness, in the presence of expressions and occlusions.

  19. Accurate Detection of Dysmorphic Nuclei Using Dynamic Programming and Supervised Classification.

    PubMed

    Verschuuren, Marlies; De Vylder, Jonas; Catrysse, Hannes; Robijns, Joke; Philips, Wilfried; De Vos, Winnok H

    2017-01-01

    A vast array of pathologies is typified by the presence of nuclei with an abnormal morphology. Dysmorphic nuclear phenotypes feature dramatic size changes or foldings, but also entail much subtler deviations such as nuclear protrusions called blebs. Due to their unpredictable size, shape and intensity, dysmorphic nuclei are often not accurately detected in standard image analysis routines. To enable accurate detection of dysmorphic nuclei in confocal and widefield fluorescence microscopy images, we have developed an automated segmentation algorithm, called Blebbed Nuclei Detector (BleND), which relies on two-pass thresholding for initial nuclear contour detection, and an optimal path finding algorithm, based on dynamic programming, for refining these contours. Using a robust error metric, we show that our method matches manual segmentation in terms of precision and outperforms state-of-the-art nuclear segmentation methods. Its high performance allowed for building and integrating a robust classifier that recognizes dysmorphic nuclei with an accuracy above 95%. The combined segmentation-classification routine is bound to facilitate nucleus-based diagnostics and enable real-time recognition of dysmorphic nuclei in intelligent microscopy workflows.

  20. Accurate Detection of Dysmorphic Nuclei Using Dynamic Programming and Supervised Classification

    PubMed Central

    Verschuuren, Marlies; De Vylder, Jonas; Catrysse, Hannes; Robijns, Joke; Philips, Wilfried

    2017-01-01

    A vast array of pathologies is typified by the presence of nuclei with an abnormal morphology. Dysmorphic nuclear phenotypes feature dramatic size changes or foldings, but also entail much subtler deviations such as nuclear protrusions called blebs. Due to their unpredictable size, shape and intensity, dysmorphic nuclei are often not accurately detected in standard image analysis routines. To enable accurate detection of dysmorphic nuclei in confocal and widefield fluorescence microscopy images, we have developed an automated segmentation algorithm, called Blebbed Nuclei Detector (BleND), which relies on two-pass thresholding for initial nuclear contour detection, and an optimal path finding algorithm, based on dynamic programming, for refining these contours. Using a robust error metric, we show that our method matches manual segmentation in terms of precision and outperforms state-of-the-art nuclear segmentation methods. Its high performance allowed for building and integrating a robust classifier that recognizes dysmorphic nuclei with an accuracy above 95%. The combined segmentation-classification routine is bound to facilitate nucleus-based diagnostics and enable real-time recognition of dysmorphic nuclei in intelligent microscopy workflows. PMID:28125723

  1. 3D facial expression recognition using maximum relevance minimum redundancy geometrical features

    NASA Astrophysics Data System (ADS)

    Rabiu, Habibu; Saripan, M. Iqbal; Mashohor, Syamsiah; Marhaban, Mohd Hamiruce

    2012-12-01

    In recent years, facial expression recognition (FER) has become an attractive research area, which besides the fundamental challenges, it poses, finds application in areas, such as human-computer interaction, clinical psychology, lie detection, pain assessment, and neurology. Generally the approaches to FER consist of three main steps: face detection, feature extraction and expression recognition. The recognition accuracy of FER hinges immensely on the relevance of the selected features in representing the target expressions. In this article, we present a person and gender independent 3D facial expression recognition method, using maximum relevance minimum redundancy geometrical features. The aim is to detect a compact set of features that sufficiently represents the most discriminative features between the target classes. Multi-class one-against-one SVM classifier was employed to recognize the seven facial expressions; neutral, happy, sad, angry, fear, disgust, and surprise. The average recognition accuracy of 92.2% was recorded. Furthermore, inter database homogeneity was investigated between two independent databases the BU-3DFE and UPM-3DFE the results showed a strong homogeneity between the two databases.

  2. Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

    PubMed

    Eker, Hatice Koçak; Derinkuyu, Betül Emine; Ünal, Sevim; Masliah-Planchon, Julien; Drunat, Séverine; Verloes, Alain

    2014-01-01

    Baraitser-Winter syndrome (BRWS) is a rare condition affecting the development of the brain and the face. The most common characteristics are unusual facial appearance including hypertelorism and ptosis, ocular colobomas, hearing loss, impaired neuronal migration and intellectual disability. BRWS is caused by mutations in the ACTB and ACTG1 genes. Cerebro-fronto-facial syndrome (CFFS) is a clinically heterogeneous condition with distinct facial dysmorphism, and brain abnormalities. Three subtypes are identified. We report a female infant with striking facial features and brain anomalies (included polymicrogyria) that fit into the spectrum of the CFFS type 3 (CFFS3). She also had minor anomalies on her hands and feet, heart and kidney malformations, and recurrent infections. DNA investigations revealed c.586C>T mutation (p.Arg196Cys) in ACTB. This mutation places this patient in the spectrum of BRWS. The same mutation has been detected in a polymicrogyric patient reported previously in literature. We expand the malformation spectrum of BRWS/CFFS3, and present preliminary findings for phenotype-genotype correlation in this spectrum. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  3. Improved facial affect recognition in schizophrenia following an emotion intervention, but not training attention-to-facial-features or treatment-as-usual.

    PubMed

    Tsotsi, Stella; Kosmidis, Mary H; Bozikas, Vasilis P

    2017-08-01

    In schizophrenia, impaired facial affect recognition (FAR) has been associated with patients' overall social functioning. Interventions targeting attention or FAR per se have invariably yielded improved FAR performance in these patients. Here, we compared the effects of two interventions, one targeting FAR and one targeting attention-to-facial-features, with treatment-as-usual on patients' FAR performance. Thirty-nine outpatients with schizophrenia were randomly assigned to one of three groups: FAR intervention (training to recognize emotional information, conveyed by changes in facial features), attention-to-facial-features intervention (training to detect changes in facial features), and treatment-as-usual. Also, 24 healthy controls, matched for age and education, were assigned to one of the two interventions. Two FAR measurements, baseline and post-intervention, were conducted using an original experimental procedure with alternative sets of stimuli. We found improved FAR performance following the intervention targeting FAR in comparison to the other patient groups, which in fact was comparable to the pre-intervention performance of healthy controls in the corresponding intervention group. This improvement was more pronounced in recognizing fear. Our findings suggest that compared to interventions targeting attention, and treatment-as-usual, training programs targeting FAR can be more effective in improving FAR in patients with schizophrenia, particularly assisting them in perceiving threat-related information more accurately. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  4. Learning representative features for facial images based on a modified principal component analysis

    NASA Astrophysics Data System (ADS)

    Averkin, Anton; Potapov, Alexey

    2013-05-01

    The paper is devoted to facial image analysis and particularly deals with the problem of automatic evaluation of the attractiveness of human faces. We propose a new approach for automatic construction of feature space based on a modified principal component analysis. Input data sets for the algorithm are the learning data sets of facial images, which are rated by one person. The proposed approach allows one to extract features of the individual subjective face beauty perception and to predict attractiveness values for new facial images, which were not included into a learning data set. The Pearson correlation coefficient between values predicted by our method for new facial images and personal attractiveness estimation values equals to 0.89. This means that the new approach proposed is promising and can be used for predicting subjective face attractiveness values in real systems of the facial images analysis.

  5. Contributions of feature shapes and surface cues to the recognition of facial expressions.

    PubMed

    Sormaz, Mladen; Young, Andrew W; Andrews, Timothy J

    2016-10-01

    Theoretical accounts of face processing often emphasise feature shapes as the primary visual cue to the recognition of facial expressions. However, changes in facial expression also affect the surface properties of the face. In this study, we investigated whether this surface information can also be used in the recognition of facial expression. First, participants identified facial expressions (fear, anger, disgust, sadness, happiness) from images that were manipulated such that they varied mainly in shape or mainly in surface properties. We found that the categorization of facial expression is possible in either type of image, but that different expressions are relatively dependent on surface or shape properties. Next, we investigated the relative contributions of shape and surface information to the categorization of facial expressions. This employed a complementary method that involved combining the surface properties of one expression with the shape properties from a different expression. Our results showed that the categorization of facial expressions in these hybrid images was equally dependent on the surface and shape properties of the image. Together, these findings provide a direct demonstration that both feature shape and surface information make significant contributions to the recognition of facial expressions. Copyright © 2016 Elsevier Ltd. All rights reserved.

  6. Joint Facial Action Unit Detection and Feature Fusion: A Multi-conditional Learning Approach.

    PubMed

    Eleftheriadis, Stefanos; Rudovic, Ognjen; Pantic, Maja

    2016-10-05

    Automated analysis of facial expressions can benefit many domains, from marketing to clinical diagnosis of neurodevelopmental disorders. Facial expressions are typically encoded as a combination of facial muscle activations, i.e., action units. Depending on context, these action units co-occur in specific patterns, and rarely in isolation. Yet, most existing methods for automatic action unit detection fail to exploit dependencies among them, and the corresponding facial features. To address this, we propose a novel multi-conditional latent variable model for simultaneous fusion of facial features and joint action unit detection. Specifically, the proposed model performs feature fusion in a generative fashion via a low-dimensional shared subspace, while simultaneously performing action unit detection using a discriminative classification approach. We show that by combining the merits of both approaches, the proposed methodology outperforms existing purely discriminative/generative methods for the target task. To reduce the number of parameters, and avoid overfitting, a novel Bayesian learning approach based on Monte Carlo sampling is proposed, to integrate out the shared subspace. We validate the proposed method on posed and spontaneous data from three publicly available datasets (CK+, DISFA and Shoulder-pain), and show that both feature fusion and joint learning of action units leads to improved performance compared to the state-of-the-art methods for the task.

  7. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

    PubMed

    Olson, Heather E; Jean-Marçais, Nolwenn; Yang, Edward; Heron, Delphine; Tatton-Brown, Katrina; van der Zwaag, Paul A; Bijlsma, Emilia K; Krock, Bryan L; Backer, E; Kamsteeg, Erik-Jan; Sinnema, Margje; Reijnders, Margot R F; Bearden, David; Begtrup, Amber; Telegrafi, Aida; Lunsing, Roelineke J; Burglen, Lydie; Lesca, Gaetan; Cho, Megan T; Smith, Lacey A; Sheidley, Beth R; Moufawad El Achkar, Christelle; Pearl, Phillip L; Poduri, Annapurna; Skraban, Cara M; Tarpinian, Jennifer; Nesbitt, Addie I; Fransen van de Putte, Dietje E; Ruivenkamp, Claudia A L; Rump, Patrick; Chatron, Nicolas; Sabatier, Isabelle; De Bellescize, Julitta; Guibaud, Laurent; Sweetser, David A; Waxler, Jessica L; Wierenga, Klaas J; Donadieu, Jean; Narayanan, Vinodh; Ramsey, Keri M; Nava, Caroline; Rivière, Jean-Baptiste; Vitobello, Antonio; Tran Mau-Them, Frédéric; Philippe, Christophe; Bruel, Ange-Line; Duffourd, Yannis; Thomas, Laurel; Lelieveld, Stefan H; Schuurs-Hoeijmakers, Janneke; Brunner, Han G; Keren, Boris; Thevenon, Julien; Faivre, Laurence; Thomas, Gary; Thauvin-Robinet, Christel

    2018-05-03

    Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex group and for accurately caring for affected individuals (clinical diagnosis, genetic counseling, impacting medical, precision therapy, clinical trials, etc.). Whole-exome sequencing and intensive data sharing identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals. Their phenotype was characterized by epilepsy, global developmental delay with or without autism, common cerebellar dysgenesis, and facial dysmorphism. Mixed focal and generalized epilepsy occurred in the neonatal period, controlled with difficulty in the first year, but many improved in early childhood. PACS2 is an important PACS1 paralog and encodes a multifunctional sorting protein involved in nuclear gene expression and pathway traffic regulation. Both proteins harbor cargo(furin)-binding regions (FBRs) that bind cargo proteins, sorting adaptors, and cellular kinase. Compared to the defined PACS1 recurrent variant series, individuals with PACS2 variant have more consistently neonatal/early-infantile-onset epilepsy that can be challenging to control. Cerebellar abnormalities may be similar but PACS2 individuals exhibit a pattern of clear dysgenesis ranging from mild to severe. Functional studies demonstrated that the PACS2 recurrent variant reduces the ability of the predicted autoregulatory domain to modulate the interaction between the PACS2 FBR and client proteins, which may disturb cellular function. These findings support the causality of this recurrent de novo PACS2 heterozygous missense in DEEs with facial dysmorphim and cerebellar dysgenesis. Copyright © 2018 American Society of Human Genetics. All rights reserved.

  8. Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome.

    PubMed Central

    Le Merrer, M; Brauner, R; Maroteaux, P

    1991-01-01

    Nine children with primordial dwarfism are described and a new syndrome is delineated. The significant features of this syndrome include facial dysmorphism with gloomy face and very short stature, but no radiological abnormality or hormone deficiency. Mental development is normal. The mode of inheritance seems to be autosomal recessive because of consanguinity in three of the four sibships. Some overlap with the 3-M syndrome is discussed but the autonomy of the gloomy face syndrome seems to be real. Images PMID:2051454

  9. A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.

    PubMed

    Ritelli, M; Morlino, S; Giacopuzzi, E; Bernardini, L; Torres, B; Santoro, G; Ravasio, V; Chiarelli, N; D'Angelantonio, D; Novelli, A; Grammatico, P; Colombi, M; Castori, M

    2018-01-01

    Deletions encompassing TAK1-binding protein 2 (TAB2) associated with isolated and syndromic congenital heart defects. Rare missense variants are found in patients with a similar phenotype as well as in a single individual with frontometaphyseal dysplasia. We describe a family and an additional sporadic patient with polyvalvular heart disease, generalized joint hypermobility and related musculoskeletal complications, soft, velvety and hyperextensible skin, short limbs, hearing impairment, and facial dysmorphism. In the first family, whole-exome sequencing (WES) disclosed the novel TAB2 c.1398dup (p.Thr467Tyrfs*6) variant that eliminates the C-terminal zinc finger domain essential for activation of TAK1 (TGFβ-activated kinase 1)-dependent signaling pathways. The sporadic case carryed a ~2 Mb de novo deletion including 28 genes also comprising TAB2. This study reveal an association between TAB2 mutations and a phenotype resembling Ehlers-Danlos syndrome with severe polyvalvular heart disease and subtle facial dysmorphism. Our findings support the existence of a wider spectrum of clinical phenotypes associated with TAB2 perturbations and emphasize the role of TAK1 signaling network in human development. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  10. Faces in-between: evaluations reflect the interplay of facial features and task-dependent fluency.

    PubMed

    Winkielman, Piotr; Olszanowski, Michal; Gola, Mateusz

    2015-04-01

    Facial features influence social evaluations. For example, faces are rated as more attractive and trustworthy when they have more smiling features and also more female features. However, the influence of facial features on evaluations should be qualified by the affective consequences of fluency (cognitive ease) with which such features are processed. Further, fluency (along with its affective consequences) should depend on whether the current task highlights conflict between specific features. Four experiments are presented. In 3 experiments, participants saw faces varying in expressions ranging from pure anger, through mixed expression, to pure happiness. Perceivers first categorized faces either on a control dimension, or an emotional dimension (angry/happy). Thus, the emotional categorization task made "pure" expressions fluent and "mixed" expressions disfluent. Next, participants made social evaluations. Results show that after emotional categorization, but not control categorization, targets with mixed expressions are relatively devalued. Further, this effect is mediated by categorization disfluency. Additional data from facial electromyography reveal that on a basic physiological level, affective devaluation of mixed expressions is driven by their objective ambiguity. The fourth experiment shows that the relative devaluation of mixed faces that vary in gender ambiguity requires a gender categorization task. Overall, these studies highlight that the impact of facial features on evaluation is qualified by their fluency, and that the fluency of features is a function of the current task. The discussion highlights the implications of these findings for research on emotional reactions to ambiguity. (c) 2015 APA, all rights reserved).

  11. Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.

    PubMed

    Hershkovitz, Eli; Parvari, Ruti; Diaz, George A; Gorodischer, Rafael

    2004-12-01

    Hypoparathyroidism, retardation, and dysmorphism (HRD) is a newly recognized genetic syndrome, described in patients of Arab origin. The syndrome consists of permanent congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, and profound global developmental delay. The patients are susceptible to severe infections including life-threatening pneumococcal infections especially during infancy. The main dysmorphic features are microcephaly, deep-set eyes or microphthalmia, ear abnormalities, depressed nasal bridge, thin upper lip, hooked small nose, micrognathia, and small hands and feet. A single 12-bp deletion (del52-55) in the second coding exon of the tubulin cofactor E (TCFE) gene, located on the long arm of chromosome 1, is the cause of HRD among Arab patients. Early recognition and therapy of hypocalcemia is important as is daily antibiotic prophylaxis against pneumococcal infections.

  12. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

    PubMed

    Harms, Frederike Leonie; Girisha, Katta M; Hardigan, Andrew A; Kortüm, Fanny; Shukla, Anju; Alawi, Malik; Dalal, Ashwin; Brady, Lauren; Tarnopolsky, Mark; Bird, Lynne M; Ceulemans, Sophia; Bebin, Martina; Bowling, Kevin M; Hiatt, Susan M; Lose, Edward J; Primiano, Michelle; Chung, Wendy K; Juusola, Jane; Akdemir, Zeynep C; Bainbridge, Matthew; Charng, Wu-Lin; Drummond-Borg, Margaret; Eldomery, Mohammad K; El-Hattab, Ayman W; Saleh, Mohammed A M; Bézieau, Stéphane; Cogné, Benjamin; Isidor, Bertrand; Küry, Sébastien; Lupski, James R; Myers, Richard M; Cooper, Gregory M; Kutsche, Kerstin

    2017-01-05

    From a GeneMatcher-enabled international collaboration, we identified ten individuals affected by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying a deleterious EBF3 variant detected by whole-exome sequencing. One 9-bp duplication and one splice-site, five missense, and two nonsense variants in EBF3 were found; the mutations occurred de novo in eight individuals, and the missense variant c.625C>T (p.Arg209Trp) was inherited by two affected siblings from their healthy mother, who is mosaic. EBF3 belongs to the early B cell factor family (also known as Olf, COE, or O/E) and is a transcription factor involved in neuronal differentiation and maturation. Structural assessment predicted that the five amino acid substitutions have damaging effects on DNA binding of EBF3. Transient expression of EBF3 mutant proteins in HEK293T cells revealed mislocalization of all but one mutant in the cytoplasm, as well as nuclear localization. By transactivation assays, all EBF3 mutants showed significantly reduced or no ability to activate transcription of the reporter gene CDKN1A, and in situ subcellular fractionation experiments demonstrated that EBF3 mutant proteins were less tightly associated with chromatin. Finally, in RNA-seq and ChIP-seq experiments, EBF3 acted as a transcriptional regulator, and mutant EBF3 had reduced genome-wide DNA binding and gene-regulatory activity. Our findings demonstrate that variants disrupting EBF3-mediated transcriptional regulation cause intellectual disability and developmental delay and are present in ∼0.1% of individuals with unexplained neurodevelopmental disorders. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  13. Neural correlates of processing facial identity based on features versus their spacing.

    PubMed

    Maurer, D; O'Craven, K M; Le Grand, R; Mondloch, C J; Springer, M V; Lewis, T L; Grady, C L

    2007-04-08

    Adults' expertise in recognizing facial identity involves encoding subtle differences among faces in the shape of individual facial features (featural processing) and in the spacing among features (a type of configural processing called sensitivity to second-order relations). We used fMRI to investigate the neural mechanisms that differentiate these two types of processing. Participants made same/different judgments about pairs of faces that differed only in the shape of the eyes and mouth, with minimal differences in spacing (featural blocks), or pairs of faces that had identical features but differed in the positions of those features (spacing blocks). From a localizer scan with faces, objects, and houses, we identified regions with comparatively more activity for faces, including the fusiform face area (FFA) in the right fusiform gyrus, other extrastriate regions, and prefrontal cortices. Contrasts between the featural and spacing conditions revealed distributed patterns of activity differentiating the two conditions. A region of the right fusiform gyrus (near but not overlapping the localized FFA) showed greater activity during the spacing task, along with multiple areas of right frontal cortex, whereas left prefrontal activity increased for featural processing. These patterns of activity were not related to differences in performance between the two tasks. The results indicate that the processing of facial features is distinct from the processing of second-order relations in faces, and that these functions are mediated by separate and lateralized networks involving the right fusiform gyrus, although the FFA as defined from a localizer scan is not differentially involved.

  14. Local binary pattern variants-based adaptive texture features analysis for posed and nonposed facial expression recognition

    NASA Astrophysics Data System (ADS)

    Sultana, Maryam; Bhatti, Naeem; Javed, Sajid; Jung, Soon Ki

    2017-09-01

    Facial expression recognition (FER) is an important task for various computer vision applications. The task becomes challenging when it requires the detection and encoding of macro- and micropatterns of facial expressions. We present a two-stage texture feature extraction framework based on the local binary pattern (LBP) variants and evaluate its significance in recognizing posed and nonposed facial expressions. We focus on the parametric limitations of the LBP variants and investigate their effects for optimal FER. The size of the local neighborhood is an important parameter of the LBP technique for its extraction in images. To make the LBP adaptive, we exploit the granulometric information of the facial images to find the local neighborhood size for the extraction of center-symmetric LBP (CS-LBP) features. Our two-stage texture representations consist of an LBP variant and the adaptive CS-LBP features. Among the presented two-stage texture feature extractions, the binarized statistical image features and adaptive CS-LBP features were found showing high FER rates. Evaluation of the adaptive texture features shows competitive and higher performance than the nonadaptive features and other state-of-the-art approaches, respectively.

  15. A new atlas for the evaluation of facial features: advantages, limits, and applicability.

    PubMed

    Ritz-Timme, Stefanie; Gabriel, Peter; Obertovà, Zuzana; Boguslawski, Melanie; Mayer, F; Drabik, A; Poppa, Pasquale; De Angelis, Danilo; Ciaffi, Romina; Zanotti, Benedetta; Gibelli, Daniele; Cattaneo, Cristina

    2011-03-01

    Methods for the verification of the identity of offenders in cases involving video-surveillance images in criminal investigation events are currently under scrutiny by several forensic experts around the globe. The anthroposcopic, or morphological, approach based on facial features is the most frequently used by international forensic experts. However, a specific set of applicable features has not yet been agreed on by the experts. Furthermore, population frequencies of such features have not been recorded, and only few validation tests have been published. To combat and prevent crime in Europe, the European Commission funded an extensive research project dedicated to the optimization of methods for facial identification of persons on photographs. Within this research project, standardized photographs of 900 males between 20 and 31 years of age from Germany, Italy, and Lithuania were acquired. Based on these photographs, 43 facial features were described and evaluated in detail. These efforts led to the development of a new model of a morphologic atlas, called DMV atlas ("Düsseldorf Milan Vilnius," from the participating cities). This study is the first attempt at verifying the feasibility of this atlas as a preliminary step to personal identification by exploring the intra- and interobserver error. The analysis yielded mismatch percentages from 19% to 39%, which reflect the subjectivity of the approach and suggest caution in verifying personal identity only from the classification of facial features. Nonetheless, the use of the atlas leads to a significant improvement of consistency in the evaluation.

  16. Novel method to predict body weight in children based on age and morphological facial features.

    PubMed

    Huang, Ziyin; Barrett, Jeffrey S; Barrett, Kyle; Barrett, Ryan; Ng, Chee M

    2015-04-01

    A new and novel approach of predicting the body weight of children based on age and morphological facial features using a three-layer feed-forward artificial neural network (ANN) model is reported. The model takes in four parameters, including age-based CDC-inferred median body weight and three facial feature distances measured from digital facial images. In this study, thirty-nine volunteer subjects with age ranging from 6-18 years old and BW ranging from 18.6-96.4 kg were used for model development and validation. The final model has a mean prediction error of 0.48, a mean squared error of 18.43, and a coefficient of correlation of 0.94. The model shows significant improvement in prediction accuracy over several age-based body weight prediction methods. Combining with a facial recognition algorithm that can detect, extract and measure the facial features used in this study, mobile applications that incorporate this body weight prediction method may be developed for clinical investigations where access to scales is limited. © 2014, The American College of Clinical Pharmacology.

  17. Rigid Facial Motion Influences Featural, But Not Holistic, Face Processing

    PubMed Central

    Xiao, Naiqi; Quinn, Paul C.; Ge, Liezhong; Lee, Kang

    2012-01-01

    We report three experiments in which we investigated the effect of rigid facial motion on face processing. Specifically, we used the face composite effect to examine whether rigid facial motion influences primarily featural or holistic processing of faces. In Experiments 1, 2, and 3, participants were first familiarized with dynamic displays in which a target face turned from one side to another; then at test, participants judged whether the top half of a composite face (the top half of the target face aligned or misaligned with the bottom half of a foil face) belonged to the target face. We compared performance in the dynamic condition to various static control conditions in Experiments 1, 2, and 3, which differed from each other in terms of the display order of the multiple static images or the inter stimulus interval (ISI) between the images. We found that the size of the face composite effect in the dynamic condition was significantly smaller than that in the static conditions. In other words, the dynamic face display influenced participants to process the target faces in a part-based manner and consequently their recognition of the upper portion of the composite face at test became less interfered with by the aligned lower part of the foil face. The findings from the present experiments provide the strongest evidence to date to suggest that the rigid facial motion mainly influences facial featural, but not holistic, processing. PMID:22342561

  18. Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation--clinical report and review.

    PubMed

    Courtens, Winnie; Wuyts, Wim; Poot, Martin; Szuhai, Karoly; Wauters, Jan; Reyniers, Edwin; Eleveld, Marc; Diaz, George; Nöthen, Markus M; Parvari, Ruti

    2006-03-15

    Hypoparathyroidism-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, seizures, and a typical facial dysmorphism, consisting of prominent forehead, deep-set eyes, and abnormal external ears. This disorder has been mapped to the long arm of chromosome 1 (1q42-q43) and mutations in the gene coding for tubulin-specific chaperone E (TBCE) have been identified as the cause of the disease. Mutations in the same gene were also reported in patients with AR Kenny-Caffey syndrome (KCS). We report on a 41/2-year-old girl with congenital hypoPTH, seizures, developmental delay, and a facial dysmorphism, compatible with HRD syndrome. Mutation analyses revealed no mutations in the TBCE gene. In addition, normal TBCE protein and alpha-tubulin immunostaining were observed in a lymphoblastoid line derived from the patient, excluding the TBCE gene as the causative gene of the syndrome in this patient. A de novo microduplication of probe RP11-262I1 on 4q35 in the proposita was detected by microarray analyses, but this could not be confirmed by additional studies. We review and discuss the clinical findings of our case and those of the other reported cases with SSS and AR KCS. We conclude that a second gene locus for this disorder seems probable and that 4q35 needs further evaluation as a candidate region.

  19. Eruptive Facial Postinflammatory Lentigo: Clinical and Dermatoscopic Features.

    PubMed

    Cabrera, Raul; Puig, Susana; Larrondo, Jorge; Castro, Alex; Valenzuela, Karen; Sabatini, Natalia

    2016-11-01

    The face has not been considered a common site of fixed drug eruption, and the authors lack dermatoscopic studies of this condition on the subject. The authors sought to characterize clinical and dermatoscopic features of 8 cases of an eruptive facial postinflammatory lentigo. The authors conducted a retrospective review of 8 cases with similar clinical and dermatoscopic findings seen from 2 medical centers in 2 countries during 2010-2014. A total of 8 patients (2 males and 6 females) with ages that ranged from 34 to 62 years (mean: 48) presented an abrupt onset of a single facial brown-pink macule, generally asymmetrical, with an average size of 1.9 cm. after ingestion of a nonsteroidal antiinflammatory drugs that lasted for several months. Dermatoscopy mainly showed a pseudonetwork or uniform areas of brown pigmentation, brown or blue-gray dots, red dots and/or telangiectatic vessels. In the epidermis, histopathology showed a mild hydropic degeneration and focal melanin hyperpigmentation. Melanin can be found freely in the dermis or laden in macrophages along with a mild perivascular mononuclear infiltrate. The authors describe eruptive facial postinflammatory lentigo as a new variant of a fixed drug eruption on the face.

  20. Gorlin-Goltz Syndrome: An Uncommon Cause of Facial Pain and Asymmetry.

    PubMed

    Pickrell, Brent B; Nguyen, Harrison P; Buchanan, Edward P

    2015-10-01

    Gorlin-Goltz syndrome is an underdiagnosed autosomal dominant disorder with variable expressivity that is characterized by an increased predisposition to tumorigenesis of multiple types. The major clinical features include multiple basal cell carcinomas (BCCs) appearing in early childhood, palmar and plantar pits, odontogenic keratocysts of the oral cavity, skeletal defects, craniofacial dysmorphism, and ectopic intracranial calcification. The authors present the clinical course of a 12-year-old girl presenting with facial asymmetry and pain because of previously undiagnosed Gorlin-Goltz syndrome. Early diagnosis and attentive management by a multidisciplinary team are paramount to improving outcomes in patients with this disorder, and this report serves as a paradigm for maintaining a high clinical suspicion, which must be accompanied by an appropriate radiologic workup.

  1. Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations

    PubMed Central

    Core, Jason Q.; Mehrabi, Mehrsa; Robinson, Zachery R.; Ochs, Alexander R.; McCarthy, Linda A.; Zaragoza, Michael V.

    2017-01-01

    Nuclear shape defects are a distinguishing characteristic in laminopathies, cancers, and other pathologies. Correlating these defects to the symptoms, mechanisms, and progression of disease requires unbiased, quantitative, and high-throughput means of quantifying nuclear morphology. To accomplish this, we developed a method of automatically segmenting fluorescently stained nuclei in 2D microscopy images and then classifying them as normal or dysmorphic based on three geometric features of the nucleus using a package of Matlab codes. As a test case, cultured skin-fibroblast nuclei of individuals possessing LMNA splice-site mutation (c.357-2A>G), LMNA nonsense mutation (c.736 C>T, pQ246X) in exon 4, LMNA missense mutation (c.1003C>T, pR335W) in exon 6, Hutchinson-Gilford Progeria Syndrome, and no LMNA mutations were analyzed. For each cell type, the percentage of dysmorphic nuclei, and other morphological features such as average nuclear area and average eccentricity were obtained. Compared to blind observers, our procedure implemented in Matlab codes possessed similar accuracy to manual counting of dysmorphic nuclei while being significantly more consistent. The automatic quantification of nuclear defects revealed a correlation between in vitro results and age of patients for initial symptom onset. Our results demonstrate the method’s utility in experimental studies of diseases affecting nuclear shape through automated, unbiased, and accurate identification of dysmorphic nuclei. PMID:29149195

  2. Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations.

    PubMed

    Core, Jason Q; Mehrabi, Mehrsa; Robinson, Zachery R; Ochs, Alexander R; McCarthy, Linda A; Zaragoza, Michael V; Grosberg, Anna

    2017-01-01

    Nuclear shape defects are a distinguishing characteristic in laminopathies, cancers, and other pathologies. Correlating these defects to the symptoms, mechanisms, and progression of disease requires unbiased, quantitative, and high-throughput means of quantifying nuclear morphology. To accomplish this, we developed a method of automatically segmenting fluorescently stained nuclei in 2D microscopy images and then classifying them as normal or dysmorphic based on three geometric features of the nucleus using a package of Matlab codes. As a test case, cultured skin-fibroblast nuclei of individuals possessing LMNA splice-site mutation (c.357-2A>G), LMNA nonsense mutation (c.736 C>T, pQ246X) in exon 4, LMNA missense mutation (c.1003C>T, pR335W) in exon 6, Hutchinson-Gilford Progeria Syndrome, and no LMNA mutations were analyzed. For each cell type, the percentage of dysmorphic nuclei, and other morphological features such as average nuclear area and average eccentricity were obtained. Compared to blind observers, our procedure implemented in Matlab codes possessed similar accuracy to manual counting of dysmorphic nuclei while being significantly more consistent. The automatic quantification of nuclear defects revealed a correlation between in vitro results and age of patients for initial symptom onset. Our results demonstrate the method's utility in experimental studies of diseases affecting nuclear shape through automated, unbiased, and accurate identification of dysmorphic nuclei.

  3. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.

    PubMed

    Battaglia, Agatino; Doccini, Viola; Bernardini, Laura; Novelli, Antonio; Loddo, Sara; Capalbo, Anna; Filippi, Tiziana; Carey, John C

    2013-11-01

    Submicroscopic chromosomal rearrangements are the most common identifiable causes of intellectual disability and autism spectrum disorders associated with dysmorphic features. Chromosomal microarray (CMA) can detect copy number variants <1 Mb and identifies size and presence of known genes. The aim of this study was to demonstrate the usefulness of CMA, as a first-tier tool in detecting the etiology of unexplained intellectual disability/autism spectrum disorders (ID/ASDs) associated with dysmorphic features in a large cohort of pediatric patients. We studied 349 individuals; 223 males, 126 females, aged 5 months-19 years. Blood samples were analyzed with CMA at a resolution ranging from 1 Mb to 40 Kb. The imbalance was confirmed by FISH or qPCR. We considered copy number variants (CNVs) causative if the variant was responsible for a known syndrome, encompassed gene/s of known function, occurred de novo or, if inherited, the parent was variably affected, and/or the involved gene/s had been reported in association with ID/ASDs in dedicated databases. 91 CNVs were detected in 77 (22.06%) patients: 5 (6.49%) of those presenting with borderline cognitive impairment, 54 (70.13%) with a variable degree of DD/ID, and 18/77 (23.38%) with ID of variable degree and ASDs. 16/77 (20.8%) patients had two different rearrangements. Deletions exceeded duplications (58 versus 33); 45.05% (41/91) of the detected CNVs were de novo, 45.05% (41/91) inherited, and 9.9% (9/91) unknown. The CNVs caused the phenotype in 57/77 (74%) patients; 12/57 (21.05%) had ASDs/ID, and 45/57 (78.95%) had DD/ID. Our study provides further evidence of the high diagnostic yield of CMA for genetic testing in children with unexplained ID/ASDs who had dysmorphic features. We confirm the value of CMA as the first-tier tool in the assessment of those conditions in the pediatric setting. Copyright © 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  4. Recovering faces from memory: the distracting influence of external facial features.

    PubMed

    Frowd, Charlie D; Skelton, Faye; Atherton, Chris; Pitchford, Melanie; Hepton, Gemma; Holden, Laura; McIntyre, Alex H; Hancock, Peter J B

    2012-06-01

    Recognition memory for unfamiliar faces is facilitated when contextual cues (e.g., head pose, background environment, hair and clothing) are consistent between study and test. By contrast, inconsistencies in external features, especially hair, promote errors in unfamiliar face-matching tasks. For the construction of facial composites, as carried out by witnesses and victims of crime, the role of external features (hair, ears, and neck) is less clear, although research does suggest their involvement. Here, over three experiments, we investigate the impact of external features for recovering facial memories using a modern, recognition-based composite system, EvoFIT. Participant-constructors inspected an unfamiliar target face and, one day later, repeatedly selected items from arrays of whole faces, with "breeding," to "evolve" a composite with EvoFIT; further participants (evaluators) named the resulting composites. In Experiment 1, the important internal-features (eyes, brows, nose, and mouth) were constructed more identifiably when the visual presence of external features was decreased by Gaussian blur during construction: higher blur yielded more identifiable internal-features. In Experiment 2, increasing the visible extent of external features (to match the target's) in the presented face-arrays also improved internal-features quality, although less so than when external features were masked throughout construction. Experiment 3 demonstrated that masking external-features promoted substantially more identifiable images than using the previous method of blurring external-features. Overall, the research indicates that external features are a distractive rather than a beneficial cue for face construction; the results also provide a much better method to construct composites, one that should dramatically increase identification of offenders.

  5. Characterizing facial features in individuals with craniofacial microsomia: A systematic approach for clinical research.

    PubMed

    Heike, Carrie L; Wallace, Erin; Speltz, Matthew L; Siebold, Babette; Werler, Martha M; Hing, Anne V; Birgfeld, Craig B; Collett, Brent R; Leroux, Brian G; Luquetti, Daniela V

    2016-11-01

    Craniofacial microsomia (CFM) is a congenital condition with wide phenotypic variability, including hypoplasia of the mandible and external ear. We assembled a cohort of children with facial features within the CFM spectrum and children without known craniofacial anomalies. We sought to develop a standardized approach to assess and describe the facial characteristics of the study cohort, using multiple sources of information gathered over the course of this longitudinal study and to create case subgroups with shared phenotypic features. Participants were enrolled between 1996 and 2002. We classified the facial phenotype from photographs, ratings using a modified version of the Orbital, Ear, Mandible, Nerve, Soft tissue (OMENS) pictorial system, data from medical record abstraction, and health history questionnaires. The participant sample included 142 cases and 290 controls. The average age was 13.5 years (standard deviation, 1.3 years; range, 11.1-17.1 years). Sixty-one percent of cases were male, 74% were white non-Hispanic. Among cases, the most common features were microtia (66%) and mandibular hypoplasia (50%). Case subgroups with meaningful group definitions included: (1) microtia without other CFM-related features (n = 24), (2) microtia with mandibular hypoplasia (n = 46), (3) other combinations of CFM- related facial features (n = 51), and (4) atypical features (n = 21). We developed a standardized approach for integrating multiple data sources to phenotype individuals with CFM, and created subgroups based on clinically-meaningful, shared characteristics. We hope that this system can be used to explore associations between phenotype and clinical outcomes of children with CFM and to identify the etiology of CFM. Birth Defects Research (Part A) 106:915-926, 2016.© 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  6. Validation of Spanish Language Evaluation Instruments for Body Dysmorphic Disorder and the Dysmorphic Concern Construct

    PubMed Central

    Senín-Calderón, Cristina; Valdés-Díaz, María; Benítez-Hernández, Ma M.; Núñez-Gaitán, Ma C.; Perona-Garcelán, Salvador; Martínez-Cervantes, Rafael; Rodríguez-Testal, Juan F.

    2017-01-01

    Dysmorphic concern (DC) refers to excessive preoccupation with a slight or imagined defect in physical appearance with social avoidance and behavior directed at controlling the defect in appearance. This study attempted to adapt the factor structure of two instruments that cover the DC construct, the Dysmorphic Concern Questionnaire (DCQ) and the Body Dysmorphic Disorder Examination Self-Report (BDDE-SR), to Spanish and establish their psychometric properties. A total of 920 subjects (62.7% women, Mage = 32.44 years) participated. Exploratory and Confirmatory Factor Analysis of both scales found adequate goodness of fit indices. A one-dimensional structure was found for the DCQ and two first-order factors (dissatisfaction/preoccupation with body image (BI) and BI avoidance behavior) were identified for the BDDE-SR. The psychometric test–retest reliability and validity properties (content, convergent, and discriminant) were satisfactory. It is suggested that the DC construct includes both cognitive and behavioral aspects and may represent a continuum of severity with Body Dysmorphic Disorder at the end. PMID:28713311

  7. Validation of Spanish Language Evaluation Instruments for Body Dysmorphic Disorder and the Dysmorphic Concern Construct.

    PubMed

    Senín-Calderón, Cristina; Valdés-Díaz, María; Benítez-Hernández, Ma M; Núñez-Gaitán, Ma C; Perona-Garcelán, Salvador; Martínez-Cervantes, Rafael; Rodríguez-Testal, Juan F

    2017-01-01

    Dysmorphic concern (DC) refers to excessive preoccupation with a slight or imagined defect in physical appearance with social avoidance and behavior directed at controlling the defect in appearance. This study attempted to adapt the factor structure of two instruments that cover the DC construct, the Dysmorphic Concern Questionnaire (DCQ) and the Body Dysmorphic Disorder Examination Self-Report (BDDE-SR), to Spanish and establish their psychometric properties. A total of 920 subjects (62.7% women, M age = 32.44 years) participated. Exploratory and Confirmatory Factor Analysis of both scales found adequate goodness of fit indices. A one-dimensional structure was found for the DCQ and two first-order factors (dissatisfaction/preoccupation with body image (BI) and BI avoidance behavior) were identified for the BDDE-SR. The psychometric test-retest reliability and validity properties (content, convergent, and discriminant) were satisfactory. It is suggested that the DC construct includes both cognitive and behavioral aspects and may represent a continuum of severity with Body Dysmorphic Disorder at the end.

  8. Body Dysmorphic Disorder: Neurobiological Features and an Updated Model

    PubMed Central

    Li, Wei; Arienzo, Donatello; Feusner, Jamie D.

    2013-01-01

    Body Dysmorphic Disorder (BDD) affects approximately 2% of the population and involves misperceived defects of appearance along with obsessive preoccupation and compulsive behaviors. There is evidence of neurobiological abnormalities associated with symptoms in BDD, although research to date is still limited. This review covers the latest neuropsychological, genetic, neurochemical, psychophysical, and neuroimaging studies and synthesizes these findings into an updated (yet still preliminary) neurobiological model of the pathophysiology of BDD. We propose a model in which visual perceptual abnormalities, along with frontostriatal and limbic system dysfunction, may combine to contribute to the symptoms of impaired insight and obsessive thoughts and compulsive behaviors expressed in BDD. Further research is necessary to gain a greater understanding of the etiological formation of BDD symptoms and their evolution over time. PMID:25419211

  9. Dermatoscopic features of cutaneous non-facial non-acral lentiginous growth pattern melanomas

    PubMed Central

    Keir, Jeff

    2014-01-01

    Background: The dermatoscopic features of facial lentigo maligna (LM), facial lentigo maligna melanoma (LMM) and acral lentiginous melanoma (ALM) have been well described. This is the first description of the dermatoscopic appearance of a clinical series of cutaneous non-facial non-acral lentiginous growth pattern melanomas. Objective: To describe the dermatoscopic features of a series of cutaneous non-facial non-acral lentiginous growth pattern melanomas in an Australian skin cancer practice. Method: Single observer retrospective analysis of dermatoscopic images of a one-year series of cutaneous non-facial, non-acral melanomas reported as having a lentiginous growth pattern detected in an open access primary care skin cancer clinic in Australia. Lesions were scored for presence of classical criteria for facial LM; modified pattern analysis (“Chaos and Clues”) criteria; and the presence of two novel criteria: a lentigo-like pigment pattern lacking a lentigo-like border, and large polygons. Results: 20 melanomas occurring in 14 female and 6 male patients were included. Average patient age was 64 years (range: 44–83). Lesion distribution was: trunk 35%; upper limb 40%; and lower limb 25%. The incidences of criteria identified were: asymmetry of color or pattern (100%); lentigo-like pigment pattern lacking a lentigo-like border (90%); asymmetrically pigmented follicular openings (APFO’s) (70%); grey blue structures (70%); large polygons (45%); eccentric structureless area (15%); bright white lines (5%). 20% of the lesions had only the novel criteria and/or APFO’s. Limitations: Single observer, single center retrospective study. Conclusions: Cutaneous non-facial non-acral melanomas with a lentiginous growth pattern may have none or very few traditional criteria for the diagnosis of melanoma. Criteria that are logically expected in lesions with a lentiginous growth pattern (lentigo-like pigment pattern lacking a lentigo-like border, APFO’s) and the novel

  10. Dermatoscopic features of cutaneous non-facial non-acral lentiginous growth pattern melanomas.

    PubMed

    Keir, Jeff

    2014-01-01

    The dermatoscopic features of facial lentigo maligna (LM), facial lentigo maligna melanoma (LMM) and acral lentiginous melanoma (ALM) have been well described. This is the first description of the dermatoscopic appearance of a clinical series of cutaneous non-facial non-acral lentiginous growth pattern melanomas. To describe the dermatoscopic features of a series of cutaneous non-facial non-acral lentiginous growth pattern melanomas in an Australian skin cancer practice. Single observer retrospective analysis of dermatoscopic images of a one-year series of cutaneous non-facial, non-acral melanomas reported as having a lentiginous growth pattern detected in an open access primary care skin cancer clinic in Australia. Lesions were scored for presence of classical criteria for facial LM; modified pattern analysis ("Chaos and Clues") criteria; and the presence of two novel criteria: a lentigo-like pigment pattern lacking a lentigo-like border, and large polygons. 20 melanomas occurring in 14 female and 6 male patients were included. Average patient age was 64 years (range: 44-83). Lesion distribution was: trunk 35%; upper limb 40%; and lower limb 25%. The incidences of criteria identified were: asymmetry of color or pattern (100%); lentigo-like pigment pattern lacking a lentigo-like border (90%); asymmetrically pigmented follicular openings (APFO's) (70%); grey blue structures (70%); large polygons (45%); eccentric structureless area (15%); bright white lines (5%). 20% of the lesions had only the novel criteria and/or APFO's. Single observer, single center retrospective study. Cutaneous non-facial non-acral melanomas with a lentiginous growth pattern may have none or very few traditional criteria for the diagnosis of melanoma. Criteria that are logically expected in lesions with a lentiginous growth pattern (lentigo-like pigment pattern lacking a lentigo-like border, APFO's) and the novel criterion of large polygons may be useful in increasing sensitivity and

  11. Long-term assessment of facial features and functions needing more attention in treatment of Treacher Collins syndrome.

    PubMed

    Plomp, Raul G; Versnel, Sarah L; van Lieshout, Manouk J S; Poublon, Rene M L; Mathijssen, Irene M J

    2013-08-01

    This study aimed to determine which facial features and functions need more attention during surgical treatment of Treacher Collins syndrome (TCS) in the long term. A cross-sectional cohort study was conducted to compare 23 TCS patients with 206 controls (all≥18 years) regarding satisfaction with their face. The adjusted Body Cathexis Scale was used to determine satisfaction with the appearance of the different facial features and functions. Desire for further treatment of these items was questioned. For each patient an overview was made of all facial operations performed, the affected facial features and the objective severity of the facial deformities. Patients were least satisfied with the appearance of the ears, facial profile and eyelids and with the functions hearing and nasal patency (P<0.001). Residual deformity of the reconstructed facial areas remained a problem in mainly the orbital area. The desire for further treatment and dissatisfaction was high in the operated patients, predominantly for eyelid reconstructions. Another significant wish was for improvement of hearing. In patients with TCS, functional deficits of the face are shown to be as important as the facial appearance. Particularly nasal patency and hearing are frequently impaired and require routine screening and treatment from intake onwards. Furthermore, correction of ear deformities and midface hypoplasia should be offered and performed more frequently. Residual deformity and dissatisfaction remains a problem, especially in reconstructed eyelids. II. Copyright © 2013 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  12. A multiple maximum scatter difference discriminant criterion for facial feature extraction.

    PubMed

    Song, Fengxi; Zhang, David; Mei, Dayong; Guo, Zhongwei

    2007-12-01

    Maximum scatter difference (MSD) discriminant criterion was a recently presented binary discriminant criterion for pattern classification that utilizes the generalized scatter difference rather than the generalized Rayleigh quotient as a class separability measure, thereby avoiding the singularity problem when addressing small-sample-size problems. MSD classifiers based on this criterion have been quite effective on face-recognition tasks, but as they are binary classifiers, they are not as efficient on large-scale classification tasks. To address the problem, this paper generalizes the classification-oriented binary criterion to its multiple counterpart--multiple MSD (MMSD) discriminant criterion for facial feature extraction. The MMSD feature-extraction method, which is based on this novel discriminant criterion, is a new subspace-based feature-extraction method. Unlike most other subspace-based feature-extraction methods, the MMSD computes its discriminant vectors from both the range of the between-class scatter matrix and the null space of the within-class scatter matrix. The MMSD is theoretically elegant and easy to calculate. Extensive experimental studies conducted on the benchmark database, FERET, show that the MMSD out-performs state-of-the-art facial feature-extraction methods such as null space method, direct linear discriminant analysis (LDA), eigenface, Fisherface, and complete LDA.

  13. Hybrid Feature Extraction-based Approach for Facial Parts Representation and Recognition

    NASA Astrophysics Data System (ADS)

    Rouabhia, C.; Tebbikh, H.

    2008-06-01

    Face recognition is a specialized image processing which has attracted a considerable attention in computer vision. In this article, we develop a new facial recognition system from video sequences images dedicated to person identification whose face is partly occulted. This system is based on a hybrid image feature extraction technique called ACPDL2D (Rouabhia et al. 2007), it combines two-dimensional principal component analysis and two-dimensional linear discriminant analysis with neural network. We performed the feature extraction task on the eyes and the nose images separately then a Multi-Layers Perceptron classifier is used. Compared to the whole face, the results of simulation are in favor of the facial parts in terms of memory capacity and recognition (99.41% for the eyes part, 98.16% for the nose part and 97.25 % for the whole face).

  14. Facial Features: What Women Perceive as Attractive and What Men Consider Attractive

    PubMed Central

    Muñoz-Reyes, José Antonio; Iglesias-Julios, Marta; Pita, Miguel; Turiegano, Enrique

    2015-01-01

    Attractiveness plays an important role in social exchange and in the ability to attract potential mates, especially for women. Several facial traits have been described as reliable indicators of attractiveness in women, but very few studies consider the influence of several measurements simultaneously. In addition, most studies consider just one of two assessments to directly measure attractiveness: either self-evaluation or men's ratings. We explored the relationship between these two estimators of attractiveness and a set of facial traits in a sample of 266 young Spanish women. These traits are: facial fluctuating asymmetry, facial averageness, facial sexual dimorphism, and facial maturity. We made use of the advantage of having recently developed methodologies that enabled us to measure these variables in real faces. We also controlled for three other widely used variables: age, body mass index and waist-to-hip ratio. The inclusion of many different variables allowed us to detect any possible interaction between the features described that could affect attractiveness perception. Our results show that facial fluctuating asymmetry is related both to self-perceived and male-rated attractiveness. Other facial traits are related only to one direct attractiveness measurement: facial averageness and facial maturity only affect men's ratings. Unmodified faces are closer to natural stimuli than are manipulated photographs, and therefore our results support the importance of employing unmodified faces to analyse the factors affecting attractiveness. We also discuss the relatively low equivalence between self-perceived and male-rated attractiveness and how various anthropometric traits are relevant to them in different ways. Finally, we highlight the need to perform integrated-variable studies to fully understand female attractiveness. PMID:26161954

  15. Facial Features: What Women Perceive as Attractive and What Men Consider Attractive.

    PubMed

    Muñoz-Reyes, José Antonio; Iglesias-Julios, Marta; Pita, Miguel; Turiegano, Enrique

    2015-01-01

    Attractiveness plays an important role in social exchange and in the ability to attract potential mates, especially for women. Several facial traits have been described as reliable indicators of attractiveness in women, but very few studies consider the influence of several measurements simultaneously. In addition, most studies consider just one of two assessments to directly measure attractiveness: either self-evaluation or men's ratings. We explored the relationship between these two estimators of attractiveness and a set of facial traits in a sample of 266 young Spanish women. These traits are: facial fluctuating asymmetry, facial averageness, facial sexual dimorphism, and facial maturity. We made use of the advantage of having recently developed methodologies that enabled us to measure these variables in real faces. We also controlled for three other widely used variables: age, body mass index and waist-to-hip ratio. The inclusion of many different variables allowed us to detect any possible interaction between the features described that could affect attractiveness perception. Our results show that facial fluctuating asymmetry is related both to self-perceived and male-rated attractiveness. Other facial traits are related only to one direct attractiveness measurement: facial averageness and facial maturity only affect men's ratings. Unmodified faces are closer to natural stimuli than are manipulated photographs, and therefore our results support the importance of employing unmodified faces to analyse the factors affecting attractiveness. We also discuss the relatively low equivalence between self-perceived and male-rated attractiveness and how various anthropometric traits are relevant to them in different ways. Finally, we highlight the need to perform integrated-variable studies to fully understand female attractiveness.

  16. Variation of facial features among three African populations: Body height match analyses.

    PubMed

    Taura, M G; Adamu, L H; Gudaji, A

    2017-01-01

    Body height is one of the variables that show a correlation with facial craniometry. Here we seek to discriminate the three populations (Nigerians, Ugandans and Kenyans) using facial craniometry based on different categories of body height of adult males. A total of 513 individuals comprising 234 Nigerians, 169 Ugandans and 110 Kenyans with mean age of 25.27, s=5.13 (18-40 years) participated. Paired and unpaired facial features were measured using direct craniometry. Multivariate and stepwise discriminate function analyses were used for differentiation of the three populations. The result showed significant overall facial differences among the three populations in all the body height categories. Skull height, total facial height, outer canthal distance, exophthalmometry, right ear width and nasal length were significantly different among the three different populations irrespective of body height categories. Other variables were sensitive to body height. Stepwise discriminant function analyses included maximum of six variables for better discrimination between the three populations. The single best discriminator of the groups was total facial height, however, for body height >1.70m the single best discriminator was nasal length. Most of the variables were better used with function 1, hence, better discrimination than function 2. In conclusion, adult body height in addition to other factors such as age, sex, and ethnicity should be considered in making decision on facial craniometry. However, not all the facial linear dimensions were sensitive to body height. Copyright © 2016 Elsevier GmbH. All rights reserved.

  17. Does my face FIT?: a face image task reveals structure and distortions of facial feature representation.

    PubMed

    Fuentes, Christina T; Runa, Catarina; Blanco, Xenxo Alvarez; Orvalho, Verónica; Haggard, Patrick

    2013-01-01

    Despite extensive research on face perception, few studies have investigated individuals' knowledge about the physical features of their own face. In this study, 50 participants indicated the location of key features of their own face, relative to an anchor point corresponding to the tip of the nose, and the results were compared to the true location of the same individual's features from a standardised photograph. Horizontal and vertical errors were analysed separately. An overall bias to underestimate vertical distances revealed a distorted face representation, with reduced face height. Factor analyses were used to identify separable subconfigurations of facial features with correlated localisation errors. Independent representations of upper and lower facial features emerged from the data pattern. The major source of variation across individuals was in representation of face shape, with a spectrum from tall/thin to short/wide representation. Visual identification of one's own face is excellent, and facial features are routinely used for establishing personal identity. However, our results show that spatial knowledge of one's own face is remarkably poor, suggesting that face representation may not contribute strongly to self-awareness.

  18. The shape of facial features and the spacing among them generate similar inversion effects: a reply to Rossion (2008).

    PubMed

    Yovel, Galit

    2009-11-01

    It is often argued that picture-plane face inversion impairs discrimination of the spacing among face features to a greater extent than the identity of the facial features. However, several recent studies have reported similar inversion effects for both types of face manipulations. In a recent review, Rossion (2008) claimed that similar inversion effects for spacing and features are due to methodological and conceptual shortcomings and that data still support the idea that inversion impairs the discrimination of features less than that of the spacing among them. Here I will claim that when facial features differ primarily in shape, the effect of inversion on features is not smaller than the one on spacing. It is when color/contrast information is added to facial features that the inversion effect on features decreases. This obvious observation accounts for the discrepancy in the literature and suggests that the large inversion effect that was found for features that differ in shape is not a methodological artifact. These findings together with other data that are discussed are consistent with the idea that the shape of facial features and the spacing among them are integrated rather than dissociated in the holistic representation of faces.

  19. The extraction and use of facial features in low bit-rate visual communication.

    PubMed

    Pearson, D

    1992-01-29

    A review is given of experimental investigations by the author and his collaborators into methods of extracting binary features from images of the face and hands. The aim of the research has been to enable deaf people to communicate by sign language over the telephone network. Other applications include model-based image coding and facial-recognition systems. The paper deals with the theoretical postulates underlying the successful experimental extraction of facial features. The basic philosophy has been to treat the face as an illuminated three-dimensional object and to identify features from characteristics of their Gaussian maps. It can be shown that in general a composite image operator linked to a directional-illumination estimator is required to accomplish this, although the latter can often be omitted in practice.

  20. Negative predictors for satisfaction in patients seeking facial cosmetic surgery: a systematic review.

    PubMed

    Herruer, Jasmijn M; Prins, Judith B; van Heerbeek, Niels; Verhage-Damen, Godelieve W J A; Ingels, Koen J A O

    2015-06-01

    Facial cosmetic surgery is becoming more popular. Patients generally indicate they are satisfied with the results. Certain patient characteristics, however, have been described as negative predictors for satisfaction. Psychopathology such as body dysmorphic disorder and personality disorders are notorious. Psychosocial and cultural factors are more difficult to distinguish. This systematic review defines the predictors, other than body dysmorphic disorder, of an unsatisfactory outcome after facial cosmetic surgery. The authors are also interested in whether valid preoperative assessment instruments are available to determine these factors. An extensive systematic PubMed/MEDLINE and Cochrane Library search was performed. In addition, relevant studies from the reference lists of the selected articles were added. There were no publication-year restrictions, and the last search was conducted on July 20, 2014. All factors described as negative predictors for patient satisfaction after facial cosmetic surgery were identified. Twenty-seven articles were analyzed, including 11 prospective studies, two retrospective studies, one case study, eight reviews, and five expert opinions. The following factors were identified: male sex, young age, unrealistic expectations, minimal deformities, demanding patients, "surgiholics," relational or familial disturbances, an obsessive personality, and a narcissistic personality. This review indicates the possible demographic and psychosocial predictors for an unsatisfactory outcome of facial cosmetic surgery. A brief personality assessment tool that could be used to address predictors preoperatively was not found. The authors suggest use of the Glasgow Benefit Inventory to assess patient satisfaction postoperatively. Further research is being undertaken to develop such an instrument.

  1. Is the emotion recognition deficit associated with frontotemporal dementia caused by selective inattention to diagnostic facial features?

    PubMed

    Oliver, Lindsay D; Virani, Karim; Finger, Elizabeth C; Mitchell, Derek G V

    2014-07-01

    Frontotemporal dementia (FTD) is a debilitating neurodegenerative disorder characterized by severely impaired social and emotional behaviour, including emotion recognition deficits. Though fear recognition impairments seen in particular neurological and developmental disorders can be ameliorated by reallocating attention to critical facial features, the possibility that similar benefits can be conferred to patients with FTD has yet to be explored. In the current study, we examined the impact of presenting distinct regions of the face (whole face, eyes-only, and eyes-removed) on the ability to recognize expressions of anger, fear, disgust, and happiness in 24 patients with FTD and 24 healthy controls. A recognition deficit was demonstrated across emotions by patients with FTD relative to controls. Crucially, removal of diagnostic facial features resulted in an appropriate decline in performance for both groups; furthermore, patients with FTD demonstrated a lack of disproportionate improvement in emotion recognition accuracy as a result of isolating critical facial features relative to controls. Thus, unlike some neurological and developmental disorders featuring amygdala dysfunction, the emotion recognition deficit observed in FTD is not likely driven by selective inattention to critical facial features. Patients with FTD also mislabelled negative facial expressions as happy more often than controls, providing further evidence for abnormalities in the representation of positive affect in FTD. This work suggests that the emotional expression recognition deficit associated with FTD is unlikely to be rectified by adjusting selective attention to diagnostic features, as has proven useful in other select disorders. Copyright © 2014 Elsevier Ltd. All rights reserved.

  2. Artistic shaping of key facial features in children and adolescents.

    PubMed

    Sullivan, P K; Singer, D P

    2001-12-01

    Facial aesthetics can be enhanced by otoplasty, rhinoplasty and genioplasty. Excellent outcomes can be obtained given appropriate timing, patient selection, preoperative planning, and artistic sculpting of the region with the appropriate surgical technique. Choosing a patient with mature psychological, developmental, and anatomic features that are amenable to treatment in the pediatric population can be challenging, yet rewarding.

  3. Demographic Characteristics, Phenomenology, Comorbidity, and Family History in 200 Individuals With Body Dysmorphic Disorder

    PubMed Central

    Phillips, Katharine A.; Menard, William; Fay, Christina; Weisberg, Risa

    2005-01-01

    The authors examined characteristics of body dysmorphic disorder in the largest sample for which a wide range of clinical features has been reported. The authors also compared psychiatrically treated and untreated subjects. Body dysmorphic disorder usually began during adolescence, involved numerous body areas and behaviors, and was characterized by poor insight, high comorbidity rates, and high rates of functional impairment, suicidal ideation, and suicide attempts. There were far more similarities than differences between the currently treated and untreated subjects, although the treated subjects displayed better insight and had more comorbidity. PMID:16000674

  4. A twin study of body dysmorphic concerns.

    PubMed

    Monzani, B; Rijsdijk, F; Anson, M; Iervolino, A C; Cherkas, L; Spector, T; Mataix-Cols, D

    2012-09-01

    Dysmorphic concern refers to an excessive preoccupation with a perceived or slight defect in physical appearance. It lies on a continuum of severity from no or minimal concerns to severe concerns over one's appearance. The present study examined the heritability of dysmorphic concerns in a large sample of twins. Twins from the St Thomas UK twin registry completed a valid and reliable self-report measure of dysmorphic concerns, which also includes questions about perceived body odour and malfunction. Twin modelling methods (female twins only, n=3544) were employed to decompose the variance in the liability to dysmorphic concerns into additive genetic, shared and non-shared environmental factors. Model-fitting analyses showed that genetic factors accounted for approximately 44% [95% confidence intervals (CI) 36-50%] of the variance in dysmorphic concerns, with non-shared environmental factors and measurement error accounting for the remaining variance (56%; 95% CI 50-63%). Shared environmental factors were negligible. The results remained unchanged when excluding individuals reporting an objective medical condition/injury accounting for their concern in physical appearance. Over-concern with a perceived or slight defect in physical appearance is a heritable trait, with non-shared environmental factors also playing an important role in its causation. The results are relevant for various psychiatric disorders characterized by excessive concerns in body appearance, odour or function, including but not limited to body dysmorphic disorder.

  5. Recovering Faces from Memory: The Distracting Influence of External Facial Features

    ERIC Educational Resources Information Center

    Frowd, Charlie D.; Skelton, Faye; Atherton, Chris; Pitchford, Melanie; Hepton, Gemma; Holden, Laura; McIntyre, Alex H.; Hancock, Peter J. B.

    2012-01-01

    Recognition memory for unfamiliar faces is facilitated when contextual cues (e.g., head pose, background environment, hair and clothing) are consistent between study and test. By contrast, inconsistencies in external features, especially hair, promote errors in unfamiliar face-matching tasks. For the construction of facial composites, as carried…

  6. Recognizing Body Dysmorphic Disorder (Dysmorphophobia)

    PubMed Central

    Varma, Anukriti; Rastogi, Rajesh

    2015-01-01

    Dysmorphophobia is a psychiatric condition which frequently presents in the clinics of dermatologists and plastic surgeons. This disorder (also called body dysmorphic disorder) is troublesome to the patient whilst being confusing for the doctor. This commonly undiagnosed condition can be detected by a few simple steps. Timely referral to a psychiatrist benefits most patients suffering from it. This article describes with a case vignette, how to recognize body dysmorphic disorder presenting in the dermatological or aesthetic surgery set up. Diagnostic criteria, eitiology, approach to patient, management strategy and when to refer are important learning points. The importance of recognizing this disorder timely and referring the patient to the psychiatrist for appropriate treatment is crucial. This article covers all aspects of body dysmorphic disorder relevant to dermatologists and plastic surgeons and hopes to be useful in a better understanding of this disorder. PMID:26644741

  7. Selective attention to imagined facial ugliness is specific to body dysmorphic disorder.

    PubMed

    Grocholewski, Anja; Kliem, Sören; Heinrichs, Nina

    2012-03-01

    Cognitive-behavioral models postulate that biases in selective attention are key factors contributing to susceptibility to and maintenance of body dysmorphic disorder (BDD). Visual attention in particular toward the imagined defect in appearance may be a crucial element. The present study therefore examined whether individuals with BDD showed increased visual attention to flaws in their own and in unfamiliar faces. Twenty individuals with BDD, 20 individuals with social phobia, and 20 mentally healthy individuals participated in an eye-tracking experiment. Participants were instructed to gaze at the photographs of 15 pictures of themselves and several unfamiliar faces. Only patients with BDD showed heightened selective visual attention to the imagined defect in their own face, as well to corresponding regions in other, unfamiliar faces. The results support the assumption that there is a specific attentional bias in BDD. Copyright © 2012 Elsevier Ltd. All rights reserved.

  8. Pharmacological Treatment Of Body Dysmorphic Disorder.

    PubMed

    Hong, Kevin; Nezgovorova, Vera; Uzunova, Genoveva; Schlussel, Danya; Hollander, Eric

    2018-04-26

    Body dysmorphic disorder is a challenging disorder that manifests as erroneously perceived flaws in one's physical appearance and repetitive behaviors in response to appearance concerns. This disorder is also frequently comorbid with other psychiatric disorders, including major depressive disorder and autism spectrum disorder. It is currently understood to arise from a combination of biological, psychological, and environmental factors. Treatment of body dysmorphic disorder typically consists of a combination of pharmacotherapy and cognitive behavioral therapy. However, not all patients respond to treatment, and BDD symptoms remain even in those who do respond. This review outlines current pharmacological and neuromodulation treatments for body dysmorphic disorder, and suggests directions for future studies of novel treatments such as augmentation with atypical antipsychotics and the use of intranasal oxytocin in cases of body dysmorphic disorder that show residual symptomatology even with tailored monotherapy. There is emerging evidence suggesting that non-invasive neurostimulatory techniques, such as repetitive transcranial magnetic stimulation, may be of value in treatment-resistant cases. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  9. Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype

    PubMed Central

    Pratte-Santos, Rodrigo; Ribeiro, Katyanne Heringer; Santos, Thainá Altoe; Cintra, Terezinha Sarquis

    2016-01-01

    ABSTRACT Objective To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype. Methods Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients. Results Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants. Conclusion The characterization of the genetic profile by CGH-array in patients with intellectual disability and dysmorphic features enabled making etiologic diagnosis, followed by genetic counseling for families and specific treatment. PMID:27074231

  10. Twin infant with lymphatic dysplasia diagnosed with Noonan syndrome by molecular genetic testing.

    PubMed

    Mathur, Deepan; Somashekar, Santhosh; Navarrete, Cristina; Rodriguez, Maria M

    2014-08-01

    Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional lymphatic dysplasias. The features of Noonan Syndrome change with age and have variable expression. The diagnosis has historically been based on clinical grounds. We describe a child that was born with congenital refractory chylothorax and subcutaneous edema suspected to be secondary to pulmonary lymphangiectasis. The infant died of respiratory failure and anasarca at 80 days. The autopsy confirmed lymphatic dysplasia in lungs and mesentery. The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene.

  11. Psychological treatment of social anxiety disorder improves body dysmorphic concerns.

    PubMed

    Fang, Angela; Sawyer, Alice T; Aderka, Idan M; Hofmann, Stefan G

    2013-10-01

    Social anxiety disorder and body dysmorphic disorder are considered nosologically distinct disorders. In contrast, some cognitive models suggest that social anxiety disorder and body dysmorphic disorder share similar cognitive maintenance factors. The aim of this study was to examine the effects of psychological treatments for social anxiety disorder on body dysmorphic disorder concerns. In Study 1, we found that 12 weekly group sessions of cognitive-behavioral therapy led to significant decreases in body dysmorphic symptom severity. In Study 2, we found that an attention retraining intervention for social anxiety disorder was associated with a reduction in body dysmorphic concerns, compared to a placebo control condition. These findings support the notion that psychological treatments for individuals with primary social anxiety disorder improve co-occurring body dysmorphic disorder symptoms. Copyright © 2013 Elsevier Ltd. All rights reserved.

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

    PubMed

    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.

  13. Metric and morphological assessment of facial features: a study on three European populations.

    PubMed

    Ritz-Timme, S; Gabriel, P; Tutkuviene, J; Poppa, P; Obertová, Z; Gibelli, D; De Angelis, D; Ratnayake, M; Rizgeliene, R; Barkus, A; Cattaneo, C

    2011-04-15

    Identification from video surveillance systems is becoming more and more frequent in the forensic practice. In this field, different techniques have been improved such as height estimation and gait analysis. However, the most natural approach for identifying a person in everyday life is based on facial characteristics. Scientifically, faces can be described using morphological and metric assessment of facial features. The morphological approach is largely affected by the subjective opinion of the observer, which can be mitigated by the application of descriptive atlases. In addition, this approach requires one to investigate which are the most common and rare facial characteristics in different populations. For the metric approach further studies are necessary in order to point out possible metric differences within and between different populations. The acquisition of statistically adequate population data may provide useful information for the reconstruction of biological profiles of unidentified individuals, particularly concerning ethnic affiliation, and possibly also for personal identification. This study presents the results of the morphological and metric assessment of the head and face of 900 male subjects between 20 and 31 years from Italy, Germany and Lithuania. The evaluation of the morphological traits was performed using the DMV atlas with 43 pre-defined facial characteristics. The frequencies of the types of facial features were calculated for each population in order to establish the rarest characteristics which may be used for the purpose of a biological profile and consequently for personal identification. Metric analysis performed in vivo included 24 absolute measurements and 24 indices of the head and face, including body height and body weight. The comparison of the frequencies of morphological facial features showed many similarities between the samples from Germany, Italy and Lithuania. However, several characteristics were rare or

  14. Emotion recognition bias for contempt and anger in body dysmorphic disorder.

    PubMed

    Buhlmann, Ulrike; Etcoff, Nancy L; Wilhelm, Sabine

    2006-03-01

    Body dysmorphic disorder (BDD) patients are preoccupied with imagined defects or flaws in appearance (e.g., size or shape of nose). They are afraid of negative evaluations by others and often suffer significant morbidity including hospitalization and suicide attempts. Many patients experience ideas of reference, e.g., they often believe others take special notice of their "flaw". Facial expressions play an important role in conveying negative or positive feelings, and sympathy or rejection. In this study, we investigated emotion recognition deficits in 18 BDD patients and 18 healthy controls. Participants were presented with two questionnaires accompanying facial photographs. One questionnaire included self-referent scenarios ("Imagine that the bank teller is looking at you. What is his facial expression like?"), whereas the other one included other-referent scenarios ("Imagine that the bank teller is looking at a friend of yours," etc.), and participants were asked to identify the corresponding emotion (e.g., anger, contempt, neutral, or surprise). Overall, BDD patients, relative to controls, had difficulty identifying emotional expressions in self-referent scenarios. They misinterpreted more expressions as contemptuous and angry in self-referent scenarios than did controls. However, they did not have significantly more difficulties identifying emotional expressions in other-referent scenarios than controls. Thus, poor insight and ideas of reference, common in BDD, might be related to a bias for misinterpreting other people's emotional expressions as negative. Perceiving others as rejecting might reinforce concerns about one's personal perceived ugliness and social desirability.

  15. Body Dysmorphic Disorder in Patients Seeking Abdominoplasty, Rhinoplasty, and Rhytidectomy.

    PubMed

    de Brito, Maria José Azevedo; Nahas, Fábio Xerfan; Cordás, Táki Athanássios; Tavares, Hermano; Ferreira, Lydia Masako

    2016-02-01

    Body dysmorphic disorder may negatively affect self-perception of body shape and lead patients to seek cosmetic surgery. This study estimates the level of body dissatisfaction and prevalence of body dysmorphic disorder symptoms in candidates for three plastic surgical procedures. Three hundred patients of both sexes divided into three groups (abdominoplasty, n = 90; rhinoplasty, n =151; and rhytidectomy, n =59) were classified as having (n =51, n =79, and n =25, respectively) or not having (n =39, n =72, and n =34, respectively) body dysmorphic disorder symptoms, based on the Body Dysmorphic Disorder Examination, which was administered preoperatively. Prevalence rates of body dysmorphic disorder symptoms in the abdominoplasty, rhinoplasty, and rhytidectomy groups were 57, 52, and 42 percent, respectively. Significant between-group differences were observed regarding age (p < 0.001), body mass index (p = 0.001), and onset of body dysmorphic disorder symptoms (p < 0.001). Within-group differences in body dysmorphic disorder severity were observed in the abdominoplasty (p < 0.001), rhinoplasty (p < 0.001), and rhytidectomy (p = 0.005) groups. Body dysmorphic disorder severity was significantly associated with degree of body dissatisfaction (mean Body Dysmorphic Disorder Examination total scores; p < 0.001), avoidance behaviors (p< 0.001), sexual abuse (p = 0.026), suicidal ideation (p < 0.001), and suicide attempt (p = 0.012). Abdominoplasty candidates showed the highest prevalence; rhytidectomy candidates exhibited the highest percentage of severe cases, and rhinoplasty candidates had the lowest percentage of severe cases.

  16. Mosaic variegated aneuploidy associated with a dysmorphic syndrome and mental handicap

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Mehta, L.; Babu, A.; Willner, J.

    1994-09-01

    A 41-year-old woman was evaluated for dysmorphic features and mental handicap. Prior karyotyping had revealed 7% mosaicism for trisomy 18 in skin fibroblasts with normal blood chromosomes. Clinical features consisted of short stature, mild mental retardation, sensorineural deafness and the following dysmorphic features: short, broad neck, low posterior hairline, small palpebral fissures with iris coloboma on the right, epicanthic folds, small mouth, high palate and prominent mandible, short metacarpals and digits, particularly the fifth, with bilateral simian creases. Medical problems included non-insulin dependent diabetes mellitus, hypertension, oligomenorrhea and recent onset of diabetic neuropathy and retinal exudates. Head size and brainmore » MRI were within normal limits. Peripheral blood chromosomes revealed: 46,XX (45 cells), 46,XX,t(7;16)(q21;q21) in 1 cell, 45,X (1 cell), 48,XXXX (1 cell), 47,XX,+mar (1 cell), 48,XX,+mar,+mar (1 cell). Skin fibroblasts revealed the following karyotypes: 46,XX (25 cells), 45,X (14 cells), 47,XX,+2 (10 cells) and 47,X,+2,+7 (1 cell). Previously reported cases of mosaic variegated aneuploidy include microcephaly as a prominent feature. Chromosomes involved in the abnormality are variable. Clinical presentations in such patients are not consistent and do not appear to correlate with specific chromosome defects. This patient represents an interesting example of probable mitotic instability disrupting normal developmental processes.« less

  17. Adult preferences for infantile facial features: an ethological approach.

    PubMed

    Sternglanz, S H; Gray, J L; Murakami, M

    1977-02-01

    In 1943 Konrad Lorenz postulated that certain infantile cues served as releasers for caretaking behaviour in human adults. This study is an attempt to confirm this hypothesis and to identify relevant cues. The stimuli studied were variations in facial features, and the responses were ratings of the attractiveness of the resultant infant faces. Parametric variations of eye height, eye width, eye height and width, iris size, and vertical variations in feature position (all presented in full-face drawings) were tested for their effect on the ratings, and highly significant preferences for particular stimuli were found. In general these preferences are consistent across a wide variety of environmental factors such as social class and experience with children. These findings are consistent with an ethological interpretation of the data.

  18. Case Conceptualization and Treatment of Comorbid Body Dysmorphic Disorder and Bulimia Nervosa

    ERIC Educational Resources Information Center

    Didie, Elizabeth R.; Reinecke, Mark A.; Phillips, Katharine A.

    2010-01-01

    Body dysmorphic disorder (BDD) and eating disorders often co-occur and share some clinical features. In addition, the co-occurrence of BDD and an eating disorder may be associated with greater impairment in functioning. Furthermore, clinical impressions suggest that this comorbidity may be more treatment resistant than either disorder alone. The…

  19. Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1.

    PubMed

    Lee, Cha Gon; Park, Sang-Jin; Yim, Shin-Young; Sohn, Young Bae

    2013-08-01

    Potocki-Lupski syndrome (PTLS [MIM 610883]) is a recently recognized microduplication syndrome associated with 17p11.2. It is characterized by mild facial dysmorphic features, hypermetropia, infantile hypotonia, failure to thrive, mental retardation, autistic spectrum disorders, behavioral abnormalities, sleep apnea, and cardiovascular anomalies. In several studies, the critical PTLS region was deduced to be 1.3Mb in length, and included RAI1 and 17 other genes. We report a 3-year-old Korean boy with the smallest duplication in 17p11.2 and a milder phenotype. He had no family history of neurologic disease or developmental delay and no history of seizure, autistic features, or behavior problems. He showed subtle facial dysmorphic features (dolichocephaly and a mildly asymmetric smile) and flat feet. All laboratory tests were normal and he had no evidence of internal organ anomalies. He was found to have mild intellectual disabilities (full scale IQ 65 on K-WPPSI) and language developmental delay (age of 2.2year-old on PRESS). Array comparative genomic hybridization (CGH) showed about a 0.25Mb microduplication on chromosome 17p11.2 containing four Refseq (NCBI reference sequence) genes, including RAI1 [arr 17p11.2(17,575,978-17,824,623)×3]. When compared with previously reported cases, the milder phenotype of our patient may be associated with the smallest duplication in 17p11.2, 0.25Mb in length. Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  20. Developmental Change in Infant Categorization: The Perception of Correlations among Facial Features.

    ERIC Educational Resources Information Center

    Younger, Barbara

    1992-01-01

    Tested 7 and 10 month olds for perception of correlations among facial features. After habituation to faces displaying a pattern of correlation, 10 month olds generalized to a novel face that preserved the pattern of correlation but showed increased attention to a novel face that violated the pattern. (BC)

  1. Correlates of dysmorphic concern in people seeking cosmetic enhancement

    PubMed Central

    Castle, David J.; Molton, Michael; Hoffman, Keturah; Preston, Neil J.; Phillips, Katharine A.

    2006-01-01

    Objective To determine the clinical correlates of dysmorphic concern in persons seeking cosmetic enhancement from cosmetic physicians. Method A questionnaire survey of 137 patients attending the practices of two cosmetic physicians. Results Four subjects (2.9%; 95% CI = 0.8%–7.3%) had a diagnosis of body dysmorphic disorder (BDD), but many more expressed overconcern with physical appearance (‘dysmorphic concern’). Dysmorphic concern accounted for a substantial amount of the variance for mood, social anxiety, and impairment in work and social functioning, while concerns related to how self or others perceive the putative flaw in appearance, impacted significantly on work and leisure activities, but did not apparently influence mood and social anxiety to any significant degree. Conclusions Dysmorphic concern is a broad dimensional construct that is related to both inter- and intrapsychic distress and disablement associated with people seeking cosmetic enhancement PMID:15209836

  2. Orientation-sensitivity to facial features explains the Thatcher illusion.

    PubMed

    Psalta, Lilia; Young, Andrew W; Thompson, Peter; Andrews, Timothy J

    2014-10-09

    The Thatcher illusion provides a compelling example of the perceptual cost of face inversion. The Thatcher illusion is often thought to result from a disruption to the processing of spatial relations between face features. Here, we show the limitations of this account and instead demonstrate that the effect of inversion in the Thatcher illusion is better explained by a disruption to the processing of purely local facial features. Using a matching task, we found that participants were able to discriminate normal and Thatcherized versions of the same face when they were presented in an upright orientation, but not when the images were inverted. Next, we showed that the effect of inversion was also apparent when only the eye region or only the mouth region was visible. These results demonstrate that a key component of the Thatcher illusion is to be found in orientation-specific encoding of the expressive features (eyes and mouth) of the face. © 2014 ARVO.

  3. Implicit Binding of Facial Features During Change Blindness

    PubMed Central

    Lyyra, Pessi; Mäkelä, Hanna; Hietanen, Jari K.; Astikainen, Piia

    2014-01-01

    Change blindness refers to the inability to detect visual changes if introduced together with an eye-movement, blink, flash of light, or with distracting stimuli. Evidence of implicit detection of changed visual features during change blindness has been reported in a number of studies using both behavioral and neurophysiological measurements. However, it is not known whether implicit detection occurs only at the level of single features or whether complex organizations of features can be implicitly detected as well. We tested this in adult humans using intact and scrambled versions of schematic faces as stimuli in a change blindness paradigm while recording event-related potentials (ERPs). An enlargement of the face-sensitive N170 ERP component was observed at the right temporal electrode site to changes from scrambled to intact faces, even if the participants were not consciously able to report such changes (change blindness). Similarly, the disintegration of an intact face to scrambled features resulted in attenuated N170 responses during change blindness. Other ERP deflections were modulated by changes, but unlike the N170 component, they were indifferent to the direction of the change. The bidirectional modulation of the N170 component during change blindness suggests that implicit change detection can also occur at the level of complex features in the case of facial stimuli. PMID:24498165

  4. Implicit binding of facial features during change blindness.

    PubMed

    Lyyra, Pessi; Mäkelä, Hanna; Hietanen, Jari K; Astikainen, Piia

    2014-01-01

    Change blindness refers to the inability to detect visual changes if introduced together with an eye-movement, blink, flash of light, or with distracting stimuli. Evidence of implicit detection of changed visual features during change blindness has been reported in a number of studies using both behavioral and neurophysiological measurements. However, it is not known whether implicit detection occurs only at the level of single features or whether complex organizations of features can be implicitly detected as well. We tested this in adult humans using intact and scrambled versions of schematic faces as stimuli in a change blindness paradigm while recording event-related potentials (ERPs). An enlargement of the face-sensitive N170 ERP component was observed at the right temporal electrode site to changes from scrambled to intact faces, even if the participants were not consciously able to report such changes (change blindness). Similarly, the disintegration of an intact face to scrambled features resulted in attenuated N170 responses during change blindness. Other ERP deflections were modulated by changes, but unlike the N170 component, they were indifferent to the direction of the change. The bidirectional modulation of the N170 component during change blindness suggests that implicit change detection can also occur at the level of complex features in the case of facial stimuli.

  5. Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

    PubMed

    Min Ko, Jung; Cho, Jae So; Yoo, Yongjin; Seo, Jieun; Choi, Murim; Chae, Jong-Hee; Lee, Hye-Ran; Cho, Tae-Joon

    2017-02-01

    Wiedemann-Steiner syndrome is a rare genetic disorder characterized by short stature, hairy elbows, facial dysmorphism, and developmental delay. It can also be accompanied by musculoskeletal anomalies such as muscular hypotonia and small hands and feet. Mutations in the KMT2A gene have only recently been identified as the cause of Wiedemann-Steiner syndrome; therefore, only 16 patients from 15 families have been described, and new phenotypic features continue to be added. In this report, we describe 2 newly identified patients with Wiedemann-Steiner syndrome who presented with variable severity. One girl exhibited developmental dysplasia of the hip and fibromatosis colli accompanied by other clinical features, including facial dysmorphism, hypertrichosis, patent ductus arteriosus, growth retardation, and borderline intellectual disability. The other patient, a boy, showed severe developmental retardation with automatic self-mutilation, facial dysmorphism, and hypertrichosis at a later age. Exome sequencing analysis of these patients and their parents revealed a de novo nonsense mutation, p.Gln1978*, of KMT2A in the former, and a missense mutation, p.Gly1168Asp, in the latter, which molecularly confirmed the diagnosis of Wiedemann-Steiner syndrome.

  6. Body dysmorphic disorder: history and curiosities.

    PubMed

    França, Katlein; Roccia, Maria Grazia; Castillo, David; ALHarbi, Mana; Tchernev, Georgi; Chokoeva, Anastasia; Lotti, Torello; Fioranelli, Massimo

    2017-10-01

    Body dysmorphic disorder is a chronic psychiatric disorder characterized by excessive preoccupation with an absent or minimal physical deformity. It causes severe distress and impairs normal functioning. In the last centuries, this disorder has been mentioned in the medical literature by important mental health practitioners by different names, such as "dysmorphophobia" or "dermatologic hypochondriasis". However, not until the last century was it included among the obsessive-compulsive disorders, although its classification has changed over time.Patients with body dysmorphic disorder constantly seek cosmetic treatments in order to improve their physical appearance, which more often deteriorates their mental condition. The high prevalence of psychiatric disorders in cosmetic medical practice has led in this field of study to the new science "cosmetic psychodermatology". This paper presents a summary of important facts about body dysmorphic disorder and its description throughout the history of medicine.

  7. [Body dysmorphic disorder : Anxiety about deformity].

    PubMed

    Gieler, T; Brähler, E

    2016-05-01

    Between 0.8 and 1.8 % of the German population suffers from a body dysmorphic disorder. In specific settings like dermatological offices up to 11.9 % of patients suffer from this disease. The highest prevalence could be found in the field of cosmetic dermatology with a prevalence of 13.1 %. Until now, the diagnosis has been made too rarely. The body dysmorphic disorder is a chronic psychic disease, in which the patients feel disfigured and experience shame and disgust at the same time. Comorbidities like social phobia, depression, suicidality, and eating disorders are frequent. The diagnosis is made using questionnaires (e.g., dysmorphic concern questionnaire) or by use of the DSM-5 manual. An early diagnosis seems to be important to avoid chronification and suicidal ideas. Therapeutic approaches should include cognitive behavioral therapies as well as the use of SSRIs.

  8. Responses in the right posterior superior temporal sulcus show a feature-based response to facial expression.

    PubMed

    Flack, Tessa R; Andrews, Timothy J; Hymers, Mark; Al-Mosaiwi, Mohammed; Marsden, Samuel P; Strachan, James W A; Trakulpipat, Chayanit; Wang, Liang; Wu, Tian; Young, Andrew W

    2015-08-01

    The face-selective region of the right posterior superior temporal sulcus (pSTS) plays an important role in analysing facial expressions. However, it is less clear how facial expressions are represented in this region. In this study, we used the face composite effect to explore whether the pSTS contains a holistic or feature-based representation of facial expression. Aligned and misaligned composite images were created from the top and bottom halves of faces posing different expressions. In Experiment 1, participants performed a behavioural matching task in which they judged whether the top half of two images was the same or different. The ability to discriminate the top half of the face was affected by changes in the bottom half of the face when the images were aligned, but not when they were misaligned. This shows a holistic behavioural response to expression. In Experiment 2, we used fMR-adaptation to ask whether the pSTS has a corresponding holistic neural representation of expression. Aligned or misaligned images were presented in blocks that involved repeating the same image or in which the top or bottom half of the images changed. Increased neural responses were found in the right pSTS regardless of whether the change occurred in the top or bottom of the image, showing that changes in expression were detected across all parts of the face. However, in contrast to the behavioural data, the pattern did not differ between aligned and misaligned stimuli. This suggests that the pSTS does not encode facial expressions holistically. In contrast to the pSTS, a holistic pattern of response to facial expression was found in the right inferior frontal gyrus (IFG). Together, these results suggest that pSTS reflects an early stage in the processing of facial expression in which facial features are represented independently. Copyright © 2015 Elsevier Ltd. All rights reserved.

  9. Millennial Filipino Student Engagement Analyzer Using Facial Feature Classification

    NASA Astrophysics Data System (ADS)

    Manseras, R.; Eugenio, F.; Palaoag, T.

    2018-03-01

    Millennials has been a word of mouth of everybody and a target market of various companies nowadays. In the Philippines, they comprise one third of the total population and most of them are still in school. Having a good education system is important for this generation to prepare them for better careers. And a good education system means having quality instruction as one of the input component indicators. In a classroom environment, teachers use facial features to measure the affect state of the class. Emerging technologies like Affective Computing is one of today’s trends to improve quality instruction delivery. This, together with computer vision, can be used in analyzing affect states of the students and improve quality instruction delivery. This paper proposed a system of classifying student engagement using facial features. Identifying affect state, specifically Millennial Filipino student engagement, is one of the main priorities of every educator and this directed the authors to develop a tool to assess engagement percentage. Multiple face detection framework using Face API was employed to detect as many student faces as possible to gauge current engagement percentage of the whole class. The binary classifier model using Support Vector Machine (SVM) was primarily set in the conceptual framework of this study. To achieve the most accuracy performance of this model, a comparison of SVM to two of the most widely used binary classifiers were tested. Results show that SVM bested RandomForest and Naive Bayesian algorithms in most of the experiments from the different test datasets.

  10. Body Dysmorphic Symptoms, Functional Impairment, and Depression: The Role of Appearance-Based Teasing.

    PubMed

    Weingarden, Hilary; Renshaw, Keith D

    2016-01-01

    Body dysmorphic disorder is associated with elevated social and occupational impairment and comorbid depression, but research on risk factors for body dysmorphic symptoms and associated outcomes is limited. Appearance-based teasing may be a potential risk factor. To examine the specificity of this factor, the authors assessed self-reported appearance-based teasing, body dysmorphic, and obsessive-compulsive symptom severity, functional impairment (i.e., social, occupational, family impairment), and depression in a nonclinical sample of undergraduates. As hypothesized, appearance-based teasing was positively correlated with body dysmorphic symptoms. The correlation between teasing and body dysmorphic symptoms was stronger than that between teasing and obsessive-compulsive symptom severity. Last, body dysmorphic symptom severity and appearance-based teasing interacted in predicting functional impairment and depression. Specifically, appearance-based teasing was positively associated with depression and functional impairment only in those with elevated body dysmorphic symptoms. When a similar moderation was tested with obsessive-compulsive, in place of body dysmorphic, symptom severity, the interaction was nonsignificant. Findings support theory that appearance-based teasing is a specific risk factor for body dysmorphic symptoms and associated functional impairment.

  11. Facial expression recognition under partial occlusion based on fusion of global and local features

    NASA Astrophysics Data System (ADS)

    Wang, Xiaohua; Xia, Chen; Hu, Min; Ren, Fuji

    2018-04-01

    Facial expression recognition under partial occlusion is a challenging research. This paper proposes a novel framework for facial expression recognition under occlusion by fusing the global and local features. In global aspect, first, information entropy are employed to locate the occluded region. Second, principal Component Analysis (PCA) method is adopted to reconstruct the occlusion region of image. After that, a replace strategy is applied to reconstruct image by replacing the occluded region with the corresponding region of the best matched image in training set, Pyramid Weber Local Descriptor (PWLD) feature is then extracted. At last, the outputs of SVM are fitted to the probabilities of the target class by using sigmoid function. For the local aspect, an overlapping block-based method is adopted to extract WLD features, and each block is weighted adaptively by information entropy, Chi-square distance and similar block summation methods are then applied to obtain the probabilities which emotion belongs to. Finally, fusion at the decision level is employed for the data fusion of the global and local features based on Dempster-Shafer theory of evidence. Experimental results on the Cohn-Kanade and JAFFE databases demonstrate the effectiveness and fault tolerance of this method.

  12. Automatic Contour Extraction of Facial Organs for Frontal Facial Images with Various Facial Expressions

    NASA Astrophysics Data System (ADS)

    Kobayashi, Hiroshi; Suzuki, Seiji; Takahashi, Hisanori; Tange, Akira; Kikuchi, Kohki

    This study deals with a method to realize automatic contour extraction of facial features such as eyebrows, eyes and mouth for the time-wise frontal face with various facial expressions. Because Snakes which is one of the most famous methods used to extract contours, has several disadvantages, we propose a new method to overcome these issues. We define the elastic contour model in order to hold the contour shape and then determine the elastic energy acquired by the amount of modification of the elastic contour model. Also we utilize the image energy obtained by brightness differences of the control points on the elastic contour model. Applying the dynamic programming method, we determine the contour position where the total value of the elastic energy and the image energy becomes minimum. Employing 1/30s time-wise facial frontal images changing from neutral to one of six typical facial expressions obtained from 20 subjects, we have estimated our method and find it enables high accuracy automatic contour extraction of facial features.

  13. Body dysmorphic symptoms: phenomenology and ethnicity.

    PubMed

    Marques, Luana; LeBlanc, Nicole; Weingarden, Hilary; Greenberg, Jennifer L; Traeger, Lara N; Keshaviah, Aparna; Wilhelm, Sabine

    2011-03-01

    Differences in the presentation of clinical features of body dysmorphic disorder (BDD) across ethnic groups have received little investigation. The current study assessed BDD symptoms in an ethnically diverse sample of adults (n=401) using an online survey. Participants completed self-report measures assessing BDD symptoms, body parts of concern and BDD behaviors. Compared to Caucasian participants, no significant differences were found in body parts or behaviors reported by Latino or African American participants. Significant group differences did emerge between Asian and Caucasian participants. Specifically, Asians reported more concern with straight hair and dark skin and fewer body shape concerns than Caucasians. Asians also endorsed lower rates of grooming, touching body parts, and camouflaging and higher rates of exercise compared to Caucasians. Although most clinical features of BDD appear similar across ethnic groups, results showed some differences in body parts and behaviors between Caucasians and Asian Americans with BDD symptoms. Copyright © 2011 Elsevier Ltd. All rights reserved.

  14. Non-invasive health status detection system using Gabor filters based on facial block texture features.

    PubMed

    Shu, Ting; Zhang, Bob

    2015-04-01

    Blood tests allow doctors to check for certain diseases and conditions. However, using a syringe to extract the blood can be deemed invasive, slightly painful, and its analysis time consuming. In this paper, we propose a new non-invasive system to detect the health status (Healthy or Diseased) of an individual based on facial block texture features extracted using the Gabor filter. Our system first uses a non-invasive capture device to collect facial images. Next, four facial blocks are located on these images to represent them. Afterwards, each facial block is convolved with a Gabor filter bank to calculate its texture value. Classification is finally performed using K-Nearest Neighbor and Support Vector Machines via a Library for Support Vector Machines (with four kernel functions). The system was tested on a dataset consisting of 100 Healthy and 100 Diseased (with 13 forms of illnesses) samples. Experimental results show that the proposed system can detect the health status with an accuracy of 93 %, a sensitivity of 94 %, a specificity of 92 %, using a combination of the Gabor filters and facial blocks.

  15. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

    PubMed

    Parvari, Ruti; Hershkovitz, Eli; Grossman, Nili; Gorodischer, Rafael; Loeys, Bart; Zecic, Alexandra; Mortier, Geert; Gregory, Simon; Sharony, Reuven; Kambouris, Marios; Sakati, Nadia; Meyer, Brian F; Al Aqeel, Aida I; Al Humaidan, Abdul Karim; Al Zanhrani, Fatma; Al Swaid, Abdulrahman; Al Othman, Johara; Diaz, George A; Weiner, Rory; Khan, K Tahseen S; Gordon, Ronald; Gelb, Bruce D

    2002-11-01

    The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism and extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations. A similar syndrome with the additional features of osteosclerosis and recurrent bacterial infections has been classified as autosomal recessive Kenny-Caffey syndrome (AR-KCS; OMIM 244460). Both traits have previously been mapped to chromosome 1q43-44 (refs 5,6) and, despite the observed clinical variability, share an ancestral haplotype, suggesting a common founder mutation. We describe refinement of the critical region to an interval of roughly 230 kb and identification of deletion and truncation mutations of TBCE in affected individuals. The gene TBCE encodes one of several chaperone proteins required for the proper folding of alpha-tubulin subunits and the formation of alpha-beta-tubulin heterodimers. Analysis of diseased fibroblasts and lymphoblastoid cells showed lower microtubule density at the microtubule-organizing center (MTOC) and perturbed microtubule polarity in diseased cells. Immunofluorescence and ultrastructural studies showed disturbances in subcellular organelles that require microtubules for membrane trafficking, such as the Golgi and late endosomal compartments. These findings demonstrate that HRD and AR-KCS are chaperone diseases caused by a genetic defect in the tubulin assembly pathway, and establish a potential connection between tubulin physiology and the development of the parathyroid.

  16. Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies

    PubMed Central

    2014-01-01

    Background Congenital Cataract Facial Dysmorphism and demyelinating Neuropathy (CCFDN, OMIM 604468) is an autosomal recessive multi-system disorder which was first described in Bulgarian Gypsies in 1999. It is caused by the homozygous founder mutation c.863 + 389C > T in the CTDP1 gene. The syndrome has been described exclusively in patients of Gypsy ancestry. The prevalence of this disorder in the Gypsy population in the Czech Republic and Central Europe is not known and is probably underestimated and under-diagnosed. Methods We clinically diagnosed and assessed 10 CCFDN children living in the Czech Republic. All patients are children of different ages, all of Gypsy origin born in the Czech Republic. Molecular genetic testing for the founder CTDP1 gene mutation was performed. Results All patients are homozygous for the c.863 + 389C > T mutation in the CTDP1 gene. All patients presented a bilateral congenital cataract and microphthalmos and had early cataract surgery. Correct diagnosis was not made until the age of two. All patients had variably delayed motor milestones. Gait is characteristically paleocerebellar in all the patients. Mental retardation was variable and usually mild. Conclusions Clinical diagnosis of CCFDN should be easy for an informed pediatrician or neurologist by the obligate signalling trias of congenital bilateral cataract, developmental delay and later demyelinating neuropathy. Our data indicate a probably high prevalence of CCFDN in the Czech Gypsy ethnic subpopulation. PMID:24690360

  17. Subject-specific and pose-oriented facial features for face recognition across poses.

    PubMed

    Lee, Ping-Han; Hsu, Gee-Sern; Wang, Yun-Wen; Hung, Yi-Ping

    2012-10-01

    Most face recognition scenarios assume that frontal faces or mug shots are available for enrollment to the database, faces of other poses are collected in the probe set. Given a face from the probe set, one needs to determine whether a match in the database exists. This is under the assumption that in forensic applications, most suspects have their mug shots available in the database, and face recognition aims at recognizing the suspects when their faces of various poses are captured by a surveillance camera. This paper considers a different scenario: given a face with multiple poses available, which may or may not include a mug shot, develop a method to recognize the face with poses different from those captured. That is, given two disjoint sets of poses of a face, one for enrollment and the other for recognition, this paper reports a method best for handling such cases. The proposed method includes feature extraction and classification. For feature extraction, we first cluster the poses of each subject's face in the enrollment set into a few pose classes and then decompose the appearance of the face in each pose class using Embedded Hidden Markov Model, which allows us to define a set of subject-specific and pose-priented (SSPO) facial components for each subject. For classification, an Adaboost weighting scheme is used to fuse the component classifiers with SSPO component features. The proposed method is proven to outperform other approaches, including a component-based classifier with local facial features cropped manually, in an extensive performance evaluation study.

  18. A Robust Shape Reconstruction Method for Facial Feature Point Detection.

    PubMed

    Tan, Shuqiu; Chen, Dongyi; Guo, Chenggang; Huang, Zhiqi

    2017-01-01

    Facial feature point detection has been receiving great research advances in recent years. Numerous methods have been developed and applied in practical face analysis systems. However, it is still a quite challenging task because of the large variability in expression and gestures and the existence of occlusions in real-world photo shoot. In this paper, we present a robust sparse reconstruction method for the face alignment problems. Instead of a direct regression between the feature space and the shape space, the concept of shape increment reconstruction is introduced. Moreover, a set of coupled overcomplete dictionaries termed the shape increment dictionary and the local appearance dictionary are learned in a regressive manner to select robust features and fit shape increments. Additionally, to make the learned model more generalized, we select the best matched parameter set through extensive validation tests. Experimental results on three public datasets demonstrate that the proposed method achieves a better robustness over the state-of-the-art methods.

  19. Extracted facial feature of racial closely related faces

    NASA Astrophysics Data System (ADS)

    Liewchavalit, Chalothorn; Akiba, Masakazu; Kanno, Tsuneo; Nagao, Tomoharu

    2010-02-01

    Human faces contain a lot of demographic information such as identity, gender, age, race and emotion. Human being can perceive these pieces of information and use it as an important clue in social interaction with other people. Race perception is considered the most delicacy and sensitive parts of face perception. There are many research concerning image-base race recognition, but most of them are focus on major race group such as Caucasoid, Negroid and Mongoloid. This paper focuses on how people classify race of the racial closely related group. As a sample of racial closely related group, we choose Japanese and Thai face to represents difference between Northern and Southern Mongoloid. Three psychological experiment was performed to study the strategies of face perception on race classification. As a result of psychological experiment, it can be suggested that race perception is an ability that can be learn. Eyes and eyebrows are the most attention point and eyes is a significant factor in race perception. The Principal Component Analysis (PCA) was performed to extract facial features of sample race group. Extracted race features of texture and shape were used to synthesize faces. As the result, it can be suggested that racial feature is rely on detailed texture rather than shape feature. This research is a indispensable important fundamental research on the race perception which are essential in the establishment of human-like race recognition system.

  20. Personality traits as vulnerability factors in body dysmorphic disorder.

    PubMed

    Schieber, Katharina; Kollei, Ines; de Zwaan, Martina; Müller, Astrid; Martin, Alexandra

    2013-11-30

    Cognitive behavioural models consider certain personality traits to be risk factors for the development of Body Dysmorphic Disorder (BDD). Research on personality traits in BDD is scarce, therefore this study examined perfectionism, aesthetic sensitivity and the behavioural inhibition system (BIS) in BDD. Furthermore, the association between these personality traits and the extent of dysmorphic concerns was investigated. Individuals with BDD (n=58) and a population based control sample (n=2071), selected from a representative German population survey, completed self-report questionnaires assessing DSM-5 criteria of BDD, dysmorphic concerns, perfectionism, aesthetic sensitivity and BIS-reactivity. Individuals with BDD reported significantly higher degrees of perfectionism as well as of BIS-reactivity compared to the population based control sample, whereas the groups did not differ significantly regarding aesthetic sensitivity. However, for the total sample, each of the personality traits was related dimensionally to dysmorphic concerns. Current BDD models consider perfectionism and aesthetic sensitivity to be vulnerability factors. In addition to these concepts, the present study suggests that BIS-reactivity is related to BDD. Self-reported aesthetic sensitivity was not found to be specifically pronounced in BDD, but along with perfectionism and BIS-reactivity aesthetic sensitivity was generally associated with dysmorphic concerns. © 2013 Elsevier Ireland Ltd. All rights reserved.

  1. Facial approximation-from facial reconstruction synonym to face prediction paradigm.

    PubMed

    Stephan, Carl N

    2015-05-01

    Facial approximation was first proposed as a synonym for facial reconstruction in 1987 due to dissatisfaction with the connotations the latter label held. Since its debut, facial approximation's identity has morphed as anomalies in face prediction have accumulated. Now underpinned by differences in what problems are thought to count as legitimate, facial approximation can no longer be considered a synonym for, or subclass of, facial reconstruction. Instead, two competing paradigms of face prediction have emerged, namely: facial approximation and facial reconstruction. This paper shines a Kuhnian lens across the discipline of face prediction to comprehensively review these developments and outlines the distinguishing features between the two paradigms. © 2015 American Academy of Forensic Sciences.

  2. High prevalence of body dysmorphic disorder symptoms in patients seeking rhinoplasty.

    PubMed

    Picavet, Valerie A; Prokopakis, Emmanuel P; Gabriëls, Lutgardis; Jorissen, Mark; Hellings, Peter W

    2011-08-01

    Nasal aesthetic deformities may be associated with significant body image dissatisfaction. The only diagnostic category in the current list of psychiatric disorders that directly addresses these concerns is body dysmorphic disorder. This large-scale study determined the prevalence of body dysmorphic disorder and its symptoms in patients seeking rhinoplasty and evaluated the clinical profile of these patients. Two hundred twenty-six patients were given questionnaires including demographic characteristics, visual analogue scales for nasal shape, the Yale-Brown Obsessive Compulsive Scale modified for body dysmorphic disorder to assess severity of symptoms, a generic quality-of-life questionnaire, and the Derriford Appearance Scale 59, to assess appearance-related disruption of everyday living. Independent observers scored the nasal shape. Thirty-three percent of patients showed at least moderate symptoms of body dysmorphic disorder. Aesthetic goals (p < 0.001), revision rhinoplasty (p = 0.003), and psychiatric history (p = 0.031) were associated with more severe symptoms. There was no correlation between the objective and subjective scoring of the nasal shape. Yale-Brown scale modified for body dysmorphic disorder scores correlated inversely with the subjective nasal scoring (n = 210, p < 0.001), without relation to the objective deformity of the nose. Body dysmorphic disorder symptoms significantly reduced the generic quality of life (n = 160, p < 0.001) and led to significant appearance-related disruption of everyday living (n = 161, p < 0.001). The prevalence of moderate to severe body dysmorphic disorder symptoms in an aesthetic rhinoplasty population is high. Patients undergoing revision rhinoplasty and with psychiatric history are particularly at risk. Body dysmorphic disorder symptoms significantly reduce the quality of life and cause significant appearance-related disruption of everyday living. Risk, III.

  3. Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

    PubMed

    Khan, Arif O; Aldahmesh, Mohammed A; Mohamed, Jawahir Y; Alkuraya, Fowzan S

    2012-06-01

    To correlate clinical examination with underlying genotype in asymptomatic females who are potential carriers of X-linked developmental cataract (Nance-Horan syndrome). An ophthalmologist blind to the pedigree performed comprehensive ophthalmic examination for 16 available family members (two affected and six asymptomatic females, five affected and three asymptomatic males). Facial features were also noted. Venous blood was collected for sequencing of the gene NHS. All seven affected family members had congenital or infantile cataract and facial dysmorphism (long face, bulbous nose, abnormal dentition). The six asymptomatic females ranged in age from 4-35 years old. Four had posterior Y-suture centered lens opacities; these four also exhibited the facial dysmorphism of the seven affected family members. The fifth asymptomatic girl had scattered fine punctate lens opacities (not centered on the Y-suture) while the sixth had clear lenses, and neither exhibited the facial dysmorphism. A novel NHS mutation (p.Lys744AsnfsX15 [c.2232delG]) was found in the seven patients with congenital or infantile cataract. This mutation was also present in the four asymptomatic girls with Y-centered lens opacities but not in the other two asymptomatic girls or in the three asymptomatic males (who had clear lenses). Lens opacities centered around the posterior Y-suture in the context of certain facial features were sensitive and specific clinical signs of carrier status for NHS mutation in asymptomatic females. Lens opacities that did not have this characteristic morphology in a suspected female carrier were not a carrier sign, even in the context of her affected family members.

  4. A Review of Body Dysmorphic Disorder and Its Presentation in Different Clinical Settings

    PubMed Central

    Mufaddel, Amir; Osman, Ossama T.; Almugaddam, Fadwa

    2013-01-01

    Objective: Body dysmorphic disorder (BDD) is a relatively common psychiatric disorder characterized by preoccupations with perceived defects in physical appearance. This review aimed to explore epidemiology, clinical features, comorbidities, and treatment options for BDD in different clinical settings. Data Source and Study Selection: A search of the literature from 1970 to 2011 was performed using the MEDLINE search engine. English-language articles, with no restriction regarding the type of articles, were identified using the search terms body dysmorphic disorder, body dysmorphic disorder clinical settings, body dysmorphic disorder treatment, and body dysmorphic disorder & psychodermatology. Results: BDD occurs in 0.7% to 2.4% of community samples and 13% of psychiatric inpatients. Etiology is multifactorial, with recent findings indicating deficits in visual information processing. There is considerable overlap between BDD and obsessive-compulsive disorder (OCD) in symptom etiology and response to treatment, which has led to suggestions that BDD can be classified with anxiety disorders and OCD. A recent finding indicated genetic overlap between BDD and OCD. Over 60% of patients with BDD had a lifetime anxiety disorder, and 38% had social phobia, which tends to predate the onset of BDD. Studies reported a high level of comorbidity with depression and social phobia occurring in > 70% of patients with BDD. Individuals with BDD present frequently to dermatologists (about 9%–14% of dermatologic patients have BDD). BDD co-occurs with pathological skin picking in 26%–45% of cases. BDD currently has 2 variants: delusional and nondelusional, and both variants respond similarly to serotonin reuptake inhibitors (SRIs), which may have effect on obsessive thoughts and rituals. Cognitive-behavioral therapy has the best established treatment results. Conclusions: A considerable overlap exists between BDD and other psychiatric disorders such as OCD, anxiety, and delusional

  5. An extensive analysis of various texture feature extractors to detect Diabetes Mellitus using facial specific regions.

    PubMed

    Shu, Ting; Zhang, Bob; Yan Tang, Yuan

    2017-04-01

    Researchers have recently discovered that Diabetes Mellitus can be detected through non-invasive computerized method. However, the focus has been on facial block color features. In this paper, we extensively study the effects of texture features extracted from facial specific regions at detecting Diabetes Mellitus using eight texture extractors. The eight methods are from four texture feature families: (1) statistical texture feature family: Image Gray-scale Histogram, Gray-level Co-occurance Matrix, and Local Binary Pattern, (2) structural texture feature family: Voronoi Tessellation, (3) signal processing based texture feature family: Gaussian, Steerable, and Gabor filters, and (4) model based texture feature family: Markov Random Field. In order to determine the most appropriate extractor with optimal parameter(s), various parameter(s) of each extractor are experimented. For each extractor, the same dataset (284 Diabetes Mellitus and 231 Healthy samples), classifiers (k-Nearest Neighbors and Support Vector Machines), and validation method (10-fold cross validation) are used. According to the experiments, the first and third families achieved a better outcome at detecting Diabetes Mellitus than the other two. The best texture feature extractor for Diabetes Mellitus detection is the Image Gray-scale Histogram with bin number=256, obtaining an accuracy of 99.02%, a sensitivity of 99.64%, and a specificity of 98.26% by using SVM. Copyright © 2017 Elsevier Ltd. All rights reserved.

  6. [Facial palsy].

    PubMed

    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.

  7. Visual processing in anorexia nervosa and body dysmorphic disorder: similarities, differences, and future research directions

    PubMed Central

    Madsen, Sarah K.; Bohon, Cara; Feusner, Jamie D.

    2013-01-01

    Anorexia nervosa (AN) and body dysmorphic disorder (BDD) are psychiatric disorders that involve distortion of the experience of one’s physical appearance. In AN, individuals believe that they are overweight, perceive their body as “fat,” and are preoccupied with maintaining a low body weight. In BDD, individuals are preoccupied with misperceived defects in physical appearance, most often of the face. Distorted visual perception may contribute to these cardinal symptoms, and may be a common underlying phenotype. This review surveys the current literature on visual processing in AN and BDD, addressing lower- to higher-order stages of visual information processing and perception. We focus on peer-reviewed studies of AN and BDD that address ophthalmologic abnormalities, basic neural processing of visual input, integration of visual input with other systems, neuropsychological tests of visual processing, and representations of whole percepts (such as images of faces, bodies, and other objects). The literature suggests a pattern in both groups of over-attention to detail, reduced processing of global features, and a tendency to focus on symptom-specific details in their own images (body parts in AN, facial features in BDD), with cognitive strategy at least partially mediating the abnormalities. Visuospatial abnormalities were also evident when viewing images of others and for non-appearance related stimuli. Unfortunately no study has directly compared AN and BDD, and most studies were not designed to disentangle disease-related emotional responses from lower-order visual processing. We make recommendations for future studies to improve the understanding of visual processing abnormalities in AN and BDD. PMID:23810196

  8. Quantitative analysis of fetal facial morphology using 3D ultrasound and statistical shape modeling: a feasibility study.

    PubMed

    Dall'Asta, Andrea; Schievano, Silvia; Bruse, Jan L; Paramasivam, Gowrishankar; Kaihura, Christine Tita; Dunaway, David; Lees, Christoph C

    2017-07-01

    The antenatal detection of facial dysmorphism using 3-dimensional ultrasound may raise the suspicion of an underlying genetic condition but infrequently leads to a definitive antenatal diagnosis. Despite advances in array and noninvasive prenatal testing, not all genetic conditions can be ascertained from such testing. The aim of this study was to investigate the feasibility of quantitative assessment of fetal face features using prenatal 3-dimensional ultrasound volumes and statistical shape modeling. STUDY DESIGN: Thirteen normal and 7 abnormal stored 3-dimensional ultrasound fetal face volumes were analyzed, at a median gestation of 29 +4  weeks (25 +0 to 36 +1 ). The 20 3-dimensional surface meshes generated were aligned and served as input for a statistical shape model, which computed the mean 3-dimensional face shape and 3-dimensional shape variations using principal component analysis. Ten shape modes explained more than 90% of the total shape variability in the population. While the first mode accounted for overall size differences, the second highlighted shape feature changes from an overall proportionate toward a more asymmetric face shape with a wide prominent forehead and an undersized, posteriorly positioned chin. Analysis of the Mahalanobis distance in principal component analysis shape space suggested differences between normal and abnormal fetuses (median and interquartile range distance values, 7.31 ± 5.54 for the normal group vs 13.27 ± 9.82 for the abnormal group) (P = .056). This feasibility study demonstrates that objective characterization and quantification of fetal facial morphology is possible from 3-dimensional ultrasound. This technique has the potential to assist in utero diagnosis, particularly of rare conditions in which facial dysmorphology is a feature. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. Recognizing Action Units for Facial Expression Analysis

    PubMed Central

    Tian, Ying-li; Kanade, Takeo; Cohn, Jeffrey F.

    2010-01-01

    Most automatic expression analysis systems attempt to recognize a small set of prototypic expressions, such as happiness, anger, surprise, and fear. Such prototypic expressions, however, occur rather infrequently. Human emotions and intentions are more often communicated by changes in one or a few discrete facial features. In this paper, we develop an Automatic Face Analysis (AFA) system to analyze facial expressions based on both permanent facial features (brows, eyes, mouth) and transient facial features (deepening of facial furrows) in a nearly frontal-view face image sequence. The AFA system recognizes fine-grained changes in facial expression into action units (AUs) of the Facial Action Coding System (FACS), instead of a few prototypic expressions. Multistate face and facial component models are proposed for tracking and modeling the various facial features, including lips, eyes, brows, cheeks, and furrows. During tracking, detailed parametric descriptions of the facial features are extracted. With these parameters as the inputs, a group of action units (neutral expression, six upper face AUs and 10 lower face AUs) are recognized whether they occur alone or in combinations. The system has achieved average recognition rates of 96.4 percent (95.4 percent if neutral expressions are excluded) for upper face AUs and 96.7 percent (95.6 percent with neutral expressions excluded) for lower face AUs. The generalizability of the system has been tested by using independent image databases collected and FACS-coded for ground-truth by different research teams. PMID:25210210

  10. Body dysmorphic disorder: Latest neuroanatomical and neuropsychological findings.

    PubMed

    Tasios, K; Michopoulos, I

    2017-01-01

    Body dysmorphic disorder (BDD) is characterized by a preoccupation with a perceived defect or flaw in physical appearance that is not observable or appears slight to others. It leads to severe distress and functional impairment. Cognitive-behavioural and neurobiological similarities to obsessive compulsive disorder (OCD) have led to its newly conceived classification as an obsessive compulsive related disorder (OCRD). In the process of investigating the neurobiology of BDD, neuroimaging and neuropsychological studies have been conducted. This review presents the most recent research findings and their connection with BDD clinical features. Imaging studies have shown increased total white matter volume and caudate volume asymmetry in BDD patients. These findings are consistent with the striatal topography model of OCRDs. Other studies have showed perfusion deficits in bilateral anterior-medial temporal and occipital regions and asymmetric perfusion in parietal lobes. In addition, correlation between symptom severity and left inferior frontal gyrus volume reflects the degree of detailed, analytic encoding that occurs on day-to-day basis when viewing others and themselves, and that likely underlies their symptoms. Finally, positive correlation between right amygdala volume and symptom severity signifies pathological fear circuitry engagement, hypervigilance and heightened sensitivity to social situations. Neuropsychological studies of BDD reveal deficits in strategic organization, learning and free recall after short and long delays. Executive function deficits are related to spatial working memory and subsequent thinking speed as well as impaired higher level planning ability. BDD patients' organizational strategies tend to focus on detail rather than on larger, global clustering features. They are characterized by abnormal visual processing of both details and global elements, inaccurate processing of global elements and reduced flexibility in switching visual

  11. Influence of skin ageing features on Chinese women's perception of facial age and attractiveness.

    PubMed

    Porcheron, A; Latreille, J; Jdid, R; Tschachler, E; Morizot, F

    2014-08-01

    Ageing leads to characteristic changes in the appearance of facial skin. Among these changes, we can distinguish the skin topographic cues (skin sagging and wrinkles), the dark spots and the dark circles around the eyes. Although skin changes are similar in Caucasian and Chinese faces, the age of occurrence and the severity of age-related features differ between the two populations. Little is known about how the ageing of skin influences the perception of female faces in Chinese women. The aim of this study is to evaluate the contribution of the different age-related skin features to the perception of age and attractiveness in Chinese women. Facial images of Caucasian women and Chinese women in their 60s were manipulated separately to reduce the following skin features: (i) skin sagging and wrinkles, (ii) dark spots and (iii) dark circles. Finally, all signs were reduced simultaneously (iv). Female Chinese participants were asked to estimate the age difference between the modified and original images and evaluate the attractiveness of modified and original faces. Chinese women perceived the Chinese faces as younger after the manipulation of dark spots than after the reduction in wrinkles/sagging, whereas they perceived the Caucasian faces as the youngest after the manipulation of wrinkles/sagging. Interestingly, Chinese women evaluated faces with reduced dark spots as being the most attractive whatever the origin of the face. The manipulation of dark circles contributed to making Caucasian and Chinese faces being perceived younger and more attractive than the original faces, although the effect was less pronounced than for the two other types of manipulation. This is the first study to have examined the influence of various age-related skin features on the facial age and attractiveness perception of Chinese women. The results highlight different contributions of dark spots, sagging/wrinkles and dark circles to their perception of Chinese and Caucasian faces.

  12. Body dysmorphic disorder.

    PubMed

    Fang, Angela; Matheny, Natalie L; Wilhelm, Sabine

    2014-09-01

    Body dysmorphic disorder (BDD) can be a severe and often debilitating psychiatric disorder that has been largely under-recognized and underdiagnosed. Pharmacologic and nonpharmacologic treatment options are available but limited. This review aims to provide an updated overview of the psychopathology and epidemiology of BDD, with an emphasis on current pharmacologic and nonpharmacologic treatment options for BDD. Copyright © 2014 Elsevier Inc. All rights reserved.

  13. The relative importance of external and internal features of facial composites.

    PubMed

    Frowd, Charlie; Bruce, Vicki; McIntyre, Alex; Hancock, Peter

    2007-02-01

    Three experiments are reported that compare the quality of external with internal regions within a set of facial composites using two matching-type tasks. Composites are constructed with the aim of triggering recognition from people familiar with the targets, and past research suggests internal face features dominate representations of familiar faces in memory. However the experiments reported here show that the internal regions of composites are very poorly matched against the faces they purport to represent, while external feature regions alone were matched almost as well as complete composites. In Experiments 1 and 2 the composites used were constructed by participant-witnesses who were unfamiliar with the targets and therefore were predicted to demonstrate a bias towards the external parts of a face. In Experiment 3 we compared witnesses who were familiar or unfamiliar with the target items, but for both groups the external features were much better reproduced in the composites, suggesting it is the process of composite construction itself which is responsible for the poverty of the internal features. Practical implications of these results are discussed.

  14. Body dysmorphic disorder and cosmetic dermatology: more than skin deep

    PubMed Central

    Castle, David J; Phillips, Katharine A; Dufresne, Raymond G

    2006-01-01

    Summary Body dysmorphic disorder (BDD) is relatively common in cosmetic practise, yet it remains under-recognized. BDD patients are unnaturally concerned with minimal or non-existent flaws, most commonly in the skin (e.g. facial acne or scarring) and hair (e.g. hair loss). Many patients develop social avoidance and suffer occupational or academic impairment. More severely ill patients may become housebound or even attempt suicide. Despite the minimal or non-existent nature of the perceived appearance flaws, patients with BDD may request dermatological treatments such as isotretinoin or dermabrasion. Although treatment outcome has received little investigation, it appears that most patients are dissatisfied with dermatological treatment and, even if the outcome is objectively acceptable, they do not worry any the less about their appearance afterwards. In contrast, a majority of patients respond to serotonin reuptake inhibitors or cognitive behavioural therapy. Treatment of these patients is best given by an experienced health professional. This may be a mental health professional or a dermatologist with an interest in psychological medicine. PMID:17147563

  15. Hennekam lymphangiectasia syndrome

    PubMed Central

    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

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

    PubMed

    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.

  17. Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.

    PubMed

    Tanigawa, Junpei; Kaneko, Kaori; Honda, Masakazu; Harashima, Hiroko; Murayama, Kei; Wada, Takahito; Takano, Kyoko; Iai, Mizue; Yamashita, Sumimasa; Shimbo, Hiroko; Aida, Noriko; Ohtake, Akira; Osaka, Hitoshi

    2012-11-01

    We report two patients with Leigh syndrome that showed a combination of facial dysmorphism and MRI imaging indicating an SURF1 deficiency, which was confirmed by sequence analysis. Case 1 is a 3-year-old girl with failure to thrive and developmental delay. She presented with tachypnea at rest and displayed facial dysmorphism including frontal bossing, lateral displacement of inner canthi, esotropia, maxillary hypoplasia, slightly upturned nostril, and hypertrichosis dominant on the forehead and extremities. Case 2 is an 8-year-old boy with respiratory failure. He had been diagnosed as selective complex IV deficiency. Case 2 displayed facial dysmorphism and hypertrichosis. Since both patients displayed characteristic facial dysmorphism and MRI findings, we sequenced the SURF1 gene and identified two heterozygous mutations; c.49+1 G>T and c.752_753del in Case 1, and homozygous c.743 C>A in Case 2. For patients with Leigh syndrome showing these facial dysmorphism and hypertrichosis, sequence analysis of the SURF1 gene may be useful. Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  18. An adaptation study of internal and external features in facial representations.

    PubMed

    Hills, Charlotte; Romano, Kali; Davies-Thompson, Jodie; Barton, Jason J S

    2014-07-01

    Prior work suggests that internal features contribute more than external features to face processing. Whether this asymmetry is also true of the mental representations of faces is not known. We used face adaptation to determine whether the internal and external features of faces contribute differently to the representation of facial identity, whether this was affected by familiarity, and whether the results differed if the features were presented in isolation or as part of a whole face. In a first experiment, subjects performed a study of identity adaptation for famous and novel faces, in which the adapting stimuli were whole faces, the internal features alone, or the external features alone. In a second experiment, the same faces were used, but the adapting internal and external features were superimposed on whole faces that were ambiguous to identity. The first experiment showed larger aftereffects for unfamiliar faces, and greater aftereffects from internal than from external features, and the latter was true for both familiar and unfamiliar faces. When internal and external features were presented in a whole-face context in the second experiment, aftereffects from either internal or external features was less than that from the whole face, and did not differ from each other. While we reproduce the greater importance of internal features when presented in isolation, we find this is equally true for familiar and unfamiliar faces. The dominant influence of internal features is reduced when integrated into a whole-face context, suggesting another facet of expert face processing. Copyright © 2014 Elsevier B.V. All rights reserved.

  19. Facial Nerve Schwannoma: A Case Report, Radiological Features and Literature Review.

    PubMed

    Pilloni, Giulia; Mico, Barbara Massa; Altieri, Roberto; Zenga, Francesco; Ducati, Alessandro; Garbossa, Diego; Tartara, Fulvio

    2017-12-22

    Facial nerve schwannoma localized in the middle fossa is a rare lesion. We report a case of a facial nerve schwannoma in a 30-year-old male presenting with facial nerve palsy. Magnetic resonance imaging (MRI) showed a 3 cm diameter tumor of the right middle fossa. The tumor was removed using a sub-temporal approach. Intraoperative monitoring allowed for identification of the facial nerve, so it was not damaged during the surgical excision. Neurological clinical examination at discharge demonstrated moderate facial nerve improvement (Grade III House-Brackmann).

  20. Abnormalities of Object Visual Processing in Body Dysmorphic Disorder

    PubMed Central

    Feusner, Jamie D.; Hembacher, Emily; Moller, Hayley; Moody, Teena D.

    2013-01-01

    Background Individuals with body dysmorphic disorder may have perceptual distortions for their appearance. Previous studies suggest imbalances in detailed relative to configural/holistic visual processing when viewing faces. No study has investigated the neural correlates of processing non-symptom-related stimuli. The objective of this study was to determine whether individuals with body dysmorphic disorder have abnormal patterns of brain activation when viewing non-face/non-body object stimuli. Methods Fourteen medication-free participants with DSM-IV body dysmorphic disorder and 14 healthy controls participated. We performed functional magnetic resonance imaging while participants matched photographs of houses that were unaltered, contained only high spatial frequency (high detail) information, or only low spatial frequency (low detail) information. The primary outcome was group differences in blood oxygen level-dependent signal changes. Results The body dysmorphic disorder group showed lesser activity in the parahippocampal gyrus, lingual gyrus, and precuneus for low spatial frequency images. There were greater activations in medial prefrontal regions for high spatial frequency images, although no significant differences when compared to a low-level baseline. Greater symptom severity was associated with lesser activity in dorsal occipital cortex and ventrolateral prefrontal cortex for normal and high spatial frequency images. Conclusions Individuals with body dysmorphic disorder have abnormal brain activation patterns when viewing objects. Hypoactivity in visual association areas for configural and holistic (low detail) elements and abnormal allocation of prefrontal systems for details is consistent with a model of imbalances in global vs. local processing. This may occur not only for appearance but also for general stimuli unrelated to their symptoms. PMID:21557897

  1. Body Dysmorphic Symptoms Scale for patients seeking esthetic surgery: cross-cultural validation study.

    PubMed

    Ramos, Tatiana Dalpasquale; Brito, Maria José Azevedo de; Piccolo, Mônica Sarto; Rosella, Maria Fernanda Normanha da Silva Martins; Sabino, Miguel; Ferreira, Lydia Masako

    2016-07-21

    Rhinoplasty is one of the most sought-after esthetic operations among individuals with body dysmorphic disorder. The aim of this study was to cross-culturally adapt and validate the Body Dysmorphic Symptoms Scale. Cross-cultural validation study conducted in a plastic surgery outpatient clinic of a public university hospital. Between February 2014 and March 2015, 80 consecutive patients of both sexes seeking rhinoplasty were selected. Thirty of them participated in the phase of cultural adaptation of the instrument. Reproducibility was tested on 20 patients and construct validity was assessed on 50 patients, with correlation against the Yale-Brown Obsessive Compulsive Scale for Body Dysmorphic Disorder. The Brazilian version of the instrument showed Cronbach's alpha of 0.805 and excellent inter-rater reproducibility (intraclass correlation coefficient, ICC = 0.873; P < 0.001) and intra-rater reproducibility (ICC = 0.939; P < 0.001). Significant differences in total scores were found between patients with and without symptoms (P < 0.001). A strong correlation (r = 0.841; P < 0.001) was observed between the Yale-Brown Obsessive Compulsive Scale for Body Dysmorphic Disorder and the Body Dysmorphic Symptoms Scale. The area under the receiver operating characteristic curve was 0.981, thus showing good accuracy for discriminating between presence and absence of symptoms of body dysmorphic disorder. Forty-six percent of the patients had body dysmorphic symptoms and 54% had moderate to severe appearance-related obsessive-compulsive symptoms. The Brazilian version of the Body Dysmorphic Symptoms Scale is a reproducible instrument that presents face, content and construct validity.

  2. Body Dysmorphic Symptoms Scale for patients seeking esthetic surgery: cross-cultural validation study.

    PubMed

    Ramos, Tatiana Dalpasquale; Brito, Maria José Azevedo de; Piccolo, Mônica Sarto; Rosella, Maria Fernanda Normanha da Silva Martins; Sabino, Miguel; Ferreira, Lydia Masako

    2016-01-01

    Rhinoplasty is one of the most sought-after esthetic operations among individuals with body dysmorphic disorder. The aim of this study was to cross-culturally adapt and validate the Body Dysmorphic Symptoms Scale. Cross-cultural validation study conducted in a plastic surgery outpatient clinic of a public university hospital. Between February 2014 and March 2015, 80 consecutive patients of both sexes seeking rhinoplasty were selected. Thirty of them participated in the phase of cultural adaptation of the instrument. Reproducibility was tested on 20 patients and construct validity was assessed on 50 patients, with correlation against the Yale-Brown Obsessive Compulsive Scale for Body Dysmorphic Disorder. The Brazilian version of the instrument showed Cronbach's alpha of 0.805 and excellent inter-rater reproducibility (intraclass correlation coefficient, ICC = 0.873; P < 0.001) and intra-rater reproducibility (ICC = 0.939; P < 0.001). Significant differences in total scores were found between patients with and without symptoms (P < 0.001). A strong correlation (r = 0.841; P < 0.001) was observed between the Yale-Brown Obsessive Compulsive Scale for Body Dysmorphic Disorder and the Body Dysmorphic Symptoms Scale. The area under the receiver operating characteristic curve was 0.981, thus showing good accuracy for discriminating between presence and absence of symptoms of body dysmorphic disorder. Forty-six percent of the patients had body dysmorphic symptoms and 54% had moderate to severe appearance-related obsessive-compulsive symptoms. The Brazilian version of the Body Dysmorphic Symptoms Scale is a reproducible instrument that presents face, content and construct validity.

  3. The face is not an empty canvas: how facial expressions interact with facial appearance.

    PubMed

    Hess, Ursula; Adams, Reginald B; Kleck, Robert E

    2009-12-12

    Faces are not simply blank canvases upon which facial expressions write their emotional messages. In fact, facial appearance and facial movement are both important social signalling systems in their own right. We here provide multiple lines of evidence for the notion that the social signals derived from facial appearance on the one hand and facial movement on the other interact in a complex manner, sometimes reinforcing and sometimes contradicting one another. Faces provide information on who a person is. Sex, age, ethnicity, personality and other characteristics that can define a person and the social group the person belongs to can all be derived from the face alone. The present article argues that faces interact with the perception of emotion expressions because this information informs a decoder's expectations regarding an expresser's probable emotional reactions. Facial appearance also interacts more directly with the interpretation of facial movement because some of the features that are used to derive personality or sex information are also features that closely resemble certain emotional expressions, thereby enhancing or diluting the perceived strength of particular expressions.

  4. TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.

    PubMed

    O'Rawe, Jason A; Wu, Yiyang; Dörfel, Max J; Rope, Alan F; Au, P Y Billie; Parboosingh, Jillian S; Moon, Sungjin; Kousi, Maria; Kosma, Konstantina; Smith, Christopher S; Tzetis, Maria; Schuette, Jane L; Hufnagel, Robert B; Prada, Carlos E; Martinez, Francisco; Orellana, Carmen; Crain, Jonathan; Caro-Llopis, Alfonso; Oltra, Silvestre; Monfort, Sandra; Jiménez-Barrón, Laura T; Swensen, Jeffrey; Ellingwood, Sara; Smith, Rosemarie; Fang, Han; Ospina, Sandra; Stegmann, Sander; Den Hollander, Nicolette; Mittelman, David; Highnam, Gareth; Robison, Reid; Yang, Edward; Faivre, Laurence; Roubertie, Agathe; Rivière, Jean-Baptiste; Monaghan, Kristin G; Wang, Kai; Davis, Erica E; Katsanis, Nicholas; Kalscheuer, Vera M; Wang, Edith H; Metcalfe, Kay; Kleefstra, Tjitske; Innes, A Micheil; Kitsiou-Tzeli, Sophia; Rosello, Monica; Keegan, Catherine E; Lyon, Gholson J

    2015-12-03

    We describe an X-linked genetic syndrome associated with mutations in TAF1 and manifesting with global developmental delay, intellectual disability (ID), characteristic facial dysmorphology, generalized hypotonia, and variable neurologic features, all in male individuals. Simultaneous studies using diverse strategies led to the identification of nine families with overlapping clinical presentations and affected by de novo or maternally inherited single-nucleotide changes. Two additional families harboring large duplications involving TAF1 were also found to share phenotypic overlap with the probands harboring single-nucleotide changes, but they also demonstrated a severe neurodegeneration phenotype. Functional analysis with RNA-seq for one of the families suggested that the phenotype is associated with downregulation of a set of genes notably enriched with genes regulated by E-box proteins. In addition, knockdown and mutant studies of this gene in zebrafish have shown a quantifiable, albeit small, effect on a neuronal phenotype. Our results suggest that mutations in TAF1 play a critical role in the development of this X-linked ID syndrome. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

  5. Facial Emotions Recognition using Gabor Transform and Facial Animation Parameters with Neural Networks

    NASA Astrophysics Data System (ADS)

    Harit, Aditya; Joshi, J. C., Col; Gupta, K. K.

    2018-03-01

    The paper proposed an automatic facial emotion recognition algorithm which comprises of two main components: feature extraction and expression recognition. The algorithm uses a Gabor filter bank on fiducial points to find the facial expression features. The resulting magnitudes of Gabor transforms, along with 14 chosen FAPs (Facial Animation Parameters), compose the feature space. There are two stages: the training phase and the recognition phase. Firstly, for the present 6 different emotions, the system classifies all training expressions in 6 different classes (one for each emotion) in the training stage. In the recognition phase, it recognizes the emotion by applying the Gabor bank to a face image, then finds the fiducial points, and then feeds it to the trained neural architecture.

  6. Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: A Case Report

    PubMed Central

    Finsterer, Josef

    2012-01-01

    The 1.4Mb tandem-duplication in the PMP22 gene at 17p11.2 usually manifests as hereditary sensorimotor polyneuropathy with foot deformity, sensorineural hearing-loss, moderate developmental delay, and gait disturbance. Hypertelorism and marked phenotypic variability within a single family has not been reported. In a single family, the PMP22 tandem-duplication manifested as short stature, sensorimotor polyneuropathy, tremor, ataxia, sensorineural hearing-loss, and hypothyroidism in the 27 years-old index case, as mild facial dysmorphism, muscle cramps, tinnitus, intention tremor, bradydiadochokinesia, and sensorimotor polyneuropathy in the 31 year-old half-brother of the index-patient, and as sensorimotor polyneuropathy and foot-deformity in the father of the two. The half-brother additionally presented with hypertelorism, not previously reported in PMP22 tandem-duplication carriers. The presented cases show that the tandem-duplication 17p11.2 may present with marked intra-familial phenotype variability and that mild facial dysmorphism with stuck-out ears and hypertelorism may be a rare phenotypic feature of this mutation. The causal relation between facial dysmorphism and the PMP22 tandem-duplication, however, remains speculative. PMID:22496945

  7. Rejection Sensitivity Mediates the Relationship between Social Anxiety and Body Dysmorphic Concerns

    PubMed Central

    Fang, Angela; Asnaani, Anu; Gutner, Cassidy; Cook, Courtney; Wilhelm, Sabine; Hofmann, Stefan G.

    2011-01-01

    The goal of this study was to examine the role of rejection sensitivity in the relationship between social anxiety and body dysmorphic concerns. To test our hypothesis that rejection sensitivity mediates the link between social anxiety and body dysmorphic concerns, we administered self-report questionnaires to 209 student volunteers. Consistent with our prediction, rejection sensitivity partially mediated the relationship between social anxiety symptoms and body dysmorphic concerns. The implications of the overlap between these constructs are discussed. PMID:21741203

  8. Fixation to features and neural processing of facial expressions in a gender discrimination task

    PubMed Central

    Neath, Karly N.; Itier, Roxane J.

    2017-01-01

    Early face encoding, as reflected by the N170 ERP component, is sensitive to fixation to the eyes. Whether this sensitivity varies with facial expressions of emotion and can also be seen on other ERP components such as P1 and EPN, was investigated. Using eye-tracking to manipulate fixation on facial features, we found the N170 to be the only eye-sensitive component and this was true for fearful, happy and neutral faces. A different effect of fixation to features was seen for the earlier P1 that likely reflected general sensitivity to face position. An early effect of emotion (~120 ms) for happy faces was seen at occipital sites and was sustained until ~350 ms post-stimulus. For fearful faces, an early effect was seen around 80 ms followed by a later effect appearing at ~150 ms until ~300 ms at lateral posterior sites. Results suggests that in this emotion-irrelevant gender discrimination task, processing of fearful and happy expressions occurred early and largely independently of the eye-sensitivity indexed by the N170. Processing of the two emotions involved different underlying brain networks active at different times. PMID:26277653

  9. Brief Report: Infants Developing with ASD Show a Unique Developmental Pattern of Facial Feature Scanning

    ERIC Educational Resources Information Center

    Rutherford, M. D.; Walsh, Jennifer A.; Lee, Vivian

    2015-01-01

    Infants are interested in eyes, but look preferentially at mouths toward the end of the first year, when word learning begins. Language delays are characteristic of children developing with autism spectrum disorder (ASD). We measured how infants at risk for ASD, control infants, and infants who later reached ASD criterion scanned facial features.…

  10. Hierarchical Spatio-Temporal Probabilistic Graphical Model with Multiple Feature Fusion for Binary Facial Attribute Classification in Real-World Face Videos.

    PubMed

    Demirkus, Meltem; Precup, Doina; Clark, James J; Arbel, Tal

    2016-06-01

    Recent literature shows that facial attributes, i.e., contextual facial information, can be beneficial for improving the performance of real-world applications, such as face verification, face recognition, and image search. Examples of face attributes include gender, skin color, facial hair, etc. How to robustly obtain these facial attributes (traits) is still an open problem, especially in the presence of the challenges of real-world environments: non-uniform illumination conditions, arbitrary occlusions, motion blur and background clutter. What makes this problem even more difficult is the enormous variability presented by the same subject, due to arbitrary face scales, head poses, and facial expressions. In this paper, we focus on the problem of facial trait classification in real-world face videos. We have developed a fully automatic hierarchical and probabilistic framework that models the collective set of frame class distributions and feature spatial information over a video sequence. The experiments are conducted on a large real-world face video database that we have collected, labelled and made publicly available. The proposed method is flexible enough to be applied to any facial classification problem. Experiments on a large, real-world video database McGillFaces [1] of 18,000 video frames reveal that the proposed framework outperforms alternative approaches, by up to 16.96 and 10.13%, for the facial attributes of gender and facial hair, respectively.

  11. Ectodermal dysplasia with blindness in sibs on the island of Rodrigues.

    PubMed Central

    Wallis, C E; Beighton, P

    1992-01-01

    A brother and sister from the island of Rodrigues had mental retardation, blindness owing to severe ocular malformations, short stature, dysmorphic facial features, hypotrichosis, and dental abnormalities. It is likely that they have a hitherto unrecognised autosomal recessive ectodermal dysplasia syndrome. Images PMID:1583659

  12. Modeling 3D Facial Shape from DNA

    PubMed Central

    Claes, Peter; Liberton, Denise K.; Daniels, Katleen; Rosana, Kerri Matthes; Quillen, Ellen E.; Pearson, Laurel N.; McEvoy, Brian; Bauchet, Marc; Zaidi, Arslan A.; Yao, Wei; Tang, Hua; Barsh, Gregory S.; Absher, Devin M.; Puts, David A.; Rocha, Jorge; Beleza, Sandra; Pereira, Rinaldo W.; Baynam, Gareth; Suetens, Paul; Vandermeulen, Dirk; Wagner, Jennifer K.; Boster, James S.; Shriver, Mark D.

    2014-01-01

    Human facial diversity is substantial, complex, and largely scientifically unexplained. We used spatially dense quasi-landmarks to measure face shape in population samples with mixed West African and European ancestry from three locations (United States, Brazil, and Cape Verde). Using bootstrapped response-based imputation modeling (BRIM), we uncover the relationships between facial variation and the effects of sex, genomic ancestry, and a subset of craniofacial candidate genes. The facial effects of these variables are summarized as response-based imputed predictor (RIP) variables, which are validated using self-reported sex, genomic ancestry, and observer-based facial ratings (femininity and proportional ancestry) and judgments (sex and population group). By jointly modeling sex, genomic ancestry, and genotype, the independent effects of particular alleles on facial features can be uncovered. Results on a set of 20 genes showing significant effects on facial features provide support for this approach as a novel means to identify genes affecting normal-range facial features and for approximating the appearance of a face from genetic markers. PMID:24651127

  13. Recognizing Facial Slivers.

    PubMed

    Gilad-Gutnick, Sharon; Harmatz, Elia Samuel; Tsourides, Kleovoulos; Yovel, Galit; Sinha, Pawan

    2018-07-01

    We report here an unexpectedly robust ability of healthy human individuals ( n = 40) to recognize extremely distorted needle-like facial images, challenging the well-entrenched notion that veridical spatial configuration is necessary for extracting facial identity. In face identification tasks of parametrically compressed internal and external features, we found that the sum of performances on each cue falls significantly short of performance on full faces, despite the equal visual information available from both measures (with full faces essentially being a superposition of internal and external features). We hypothesize that this large deficit stems from the use of positional information about how the internal features are positioned relative to the external features. To test this, we systematically changed the relations between internal and external features and found preferential encoding of vertical but not horizontal spatial relationships in facial representations ( n = 20). Finally, we employ magnetoencephalography imaging ( n = 20) to demonstrate a close mapping between the behavioral psychometric curve and the amplitude of the M250 face familiarity, but not M170 face-sensitive evoked response field component, providing evidence that the M250 can be modulated by faces that are perceptually identifiable, irrespective of extreme distortions to the face's veridical configuration. We theorize that the tolerance to compressive distortions has evolved from the need to recognize faces across varying viewpoints. Our findings help clarify the important, but poorly defined, concept of facial configuration and also enable an association between behavioral performance and previously reported neural correlates of face perception.

  14. A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms.

    PubMed

    Coppola, Antonietta; Striano, Pasquale; Gimelli, Stefania; Ciampa, Clotilde; Santulli, Lia; Caranci, Ferdinando; Zuffardi, Orsetta; Gimelli, Giorgio; Striano, Salvatore; Zara, Federico

    2010-03-01

    We report a 22-year-old male patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. Standard cytogenetic analysis revealed a de novo interstitial duplication of the short arm of chromosome 11 (11p). High density array-CGH analysis showed that the rearrangement spans about 35Mb on chromosome 11p12-p15.4. Duplications of 11p are rare and usually involve the distal part of the chromosome arm (11p15), being not associated with epilepsy, whereas our patient showed a unique epileptic phenotype associated with mental retardation and dysmorphic features. The role of some rearranged genes in epilepsy pathogenesis in this patient is also discussed.

  15. Chondromyxoid fibroma of the mastoid facial nerve canal mimicking a facial nerve schwannoma.

    PubMed

    Thompson, Andrew L; Bharatha, Aditya; Aviv, Richard I; Nedzelski, Julian; Chen, Joseph; Bilbao, Juan M; Wong, John; Saad, Reda; Symons, Sean P

    2009-07-01

    Chondromyxoid fibroma of the skull base is a rare entity. Involvement of the temporal bone is particularly rare. We present an unusual case of progressive facial nerve paralysis with imaging and clinical findings most suggestive of a facial nerve schwannoma. The lesion was tubular in appearance, expanded the mastoid facial nerve canal, protruded out of the stylomastoid foramen, and enhanced homogeneously. The only unusual imaging feature was minor calcification within the tumor. Surgery revealed an irregular, cystic lesion. Pathology diagnosed a chondromyxoid fibroma involving the mastoid portion of the facial nerve canal, destroying the facial nerve.

  16. Pose-variant facial expression recognition using an embedded image system

    NASA Astrophysics Data System (ADS)

    Song, Kai-Tai; Han, Meng-Ju; Chang, Shuo-Hung

    2008-12-01

    In recent years, one of the most attractive research areas in human-robot interaction is automated facial expression recognition. Through recognizing the facial expression, a pet robot can interact with human in a more natural manner. In this study, we focus on the facial pose-variant problem. A novel method is proposed in this paper to recognize pose-variant facial expressions. After locating the face position in an image frame, the active appearance model (AAM) is applied to track facial features. Fourteen feature points are extracted to represent the variation of facial expressions. The distance between feature points are defined as the feature values. These feature values are sent to a support vector machine (SVM) for facial expression determination. The pose-variant facial expression is classified into happiness, neutral, sadness, surprise or anger. Furthermore, in order to evaluate the performance for practical applications, this study also built a low resolution database (160x120 pixels) using a CMOS image sensor. Experimental results show that the recognition rate is 84% with the self-built database.

  17. Assessment of the facial features and chin development of fetuses with use of serial three-dimensional sonography and the mandibular size monogram in a Chinese population.

    PubMed

    Tsai, Meng-Yin; Lan, Kuo-Chung; Ou, Chia-Yo; Chen, Jen-Huang; Chang, Shiuh-Young; Hsu, Te-Yao

    2004-02-01

    Our purpose was to evaluate whether the application of serial three-dimensional (3D) sonography and the mandibular size monogram can allow observation of dynamic changes in facial features, as well as chin development in utero. The mandibular size monogram has been established through a cross-sectional study involving 183 fetal images. The serial changes of facial features and chin development are assessed in a cohort study involving 40 patients. The monogram reveals that the Biparietal distance (BPD)/Mandibular body length (MBL) ratio is gradually decreased with the advance of gestational age. The cohort study conducted with serial 3D sonography shows the same tendency. Both the images and the results of paired-samples t test (P<.001) statistical analysis suggest that the fetuses develop wider chins and broader facial features in later weeks. The serial 3D sonography and mandibular size monogram display disproportionate growth of the fetal head and chin that leads to changes in facial features in late gestation. This fact must be considered when we evaluate fetuses at risk for development of micrognathia.

  18. Prevalence and clinical characteristics of body dysmorphic disorder in an adult inpatient setting†

    PubMed Central

    Conroy, Michelle; Menard, William; Fleming-Ives, Kathryn; Modha, Poonam; Cerullo, Hilary; Phillips, Katharine A.

    2008-01-01

    Objective Body dysmorphic disorder (BDD), a distressing or impairing preoccupation with an imagined or slight defect in appearance, is an often-severe, understudied disorder. We determined BDD’s prevalence and clinical features on a general adult psychiatric inpatient unit. To our knowledge, only one previous prevalence study has been done in this setting. Method One hundred patients completed 3 self-report measures: the Body Dysmorphic Disorder Questionnaire (BDD-Q), Beck Anxiety Inventory (BAI) and Center for Epidemiologic Studies Depression Scale (CES-D). Those who screened positive for BDD were interviewed to confirm DSM-IV BDD and its clinical features. Charts were reviewed for demographic and clinical information. Results BDD was diagnosed in 16.0% (95% CI=8.7–23.3%) (n=16) of patients. A high proportion of those with BDD reported that BDD symptoms contributed to suicidality. Patients revealed BDD symptoms to a mean of only 15.1%±33.7% lifetime mental health clinicians; only one (6.3%) reported symptoms to his current inpatient psychiatrist. Most did not disclose their symptoms due to embarrassment. Those with BDD were younger (P=.008) and had higher CES-D scores (P=.008). The two groups did not significantly differ on BAI score, demographic characteristics or discharge diagnoses. Conclusions BDD is relatively common but underdiagnosed in psychiatric inpatients and is associated with more severe depressive symptoms. PMID:18164943

  19. Fixation to features and neural processing of facial expressions in a gender discrimination task.

    PubMed

    Neath, Karly N; Itier, Roxane J

    2015-10-01

    Early face encoding, as reflected by the N170 ERP component, is sensitive to fixation to the eyes. Whether this sensitivity varies with facial expressions of emotion and can also be seen on other ERP components such as P1 and EPN, was investigated. Using eye-tracking to manipulate fixation on facial features, we found the N170 to be the only eye-sensitive component and this was true for fearful, happy and neutral faces. A different effect of fixation to features was seen for the earlier P1 that likely reflected general sensitivity to face position. An early effect of emotion (∼120 ms) for happy faces was seen at occipital sites and was sustained until ∼350 ms post-stimulus. For fearful faces, an early effect was seen around 80 ms followed by a later effect appearing at ∼150 ms until ∼300 ms at lateral posterior sites. Results suggests that in this emotion-irrelevant gender discrimination task, processing of fearful and happy expressions occurred early and largely independently of the eye-sensitivity indexed by the N170. Processing of the two emotions involved different underlying brain networks active at different times. Copyright © 2015 Elsevier Inc. All rights reserved.

  20. A Case of Treatment- resistant Depression and Body Dysmorphic Disorder: The Role of Electroconvulsive Therapy Revisited.

    PubMed

    Mahato, Ram S; San Gabriel, Maria Chona P; Longshore, Carrol T; Schnur, David B

    2016-01-01

    Body dysmorphic disorder is a common, often disabling condition, and is frequently comorbid with major depressive disorder. Selective serotonin reuptake inhibitors constitute first line set of somatic interventions but the management of refractory patients remains challenging. Electroconvulsive therapy, an often highly beneficial treatment for medication resistant-depression, is not considered an effective therapeutic alternative for treatment refractory body dysmorphic disorder. Here we present a 50-year-old woman with body dysmorphic disorder and comorbid major depressive disorder who remained incapacitated and suicidal despite several trials with selective serotonin reuptake inhibitors and antipsychotic medication. Depressive and dysmorphic symptoms appeared to resolve with electroconvulsive therapy, and remission was sustained for two months. Electroconvulsive therapy has an important place in the management of treatment- resistant depression associated with body dysmorphic disorder, and, in select cases, may be effective for dysmorphic symptoms as well.

  1. Mutual information-based facial expression recognition

    NASA Astrophysics Data System (ADS)

    Hazar, Mliki; Hammami, Mohamed; Hanêne, Ben-Abdallah

    2013-12-01

    This paper introduces a novel low-computation discriminative regions representation for expression analysis task. The proposed approach relies on interesting studies in psychology which show that most of the descriptive and responsible regions for facial expression are located around some face parts. The contributions of this work lie in the proposition of new approach which supports automatic facial expression recognition based on automatic regions selection. The regions selection step aims to select the descriptive regions responsible or facial expression and was performed using Mutual Information (MI) technique. For facial feature extraction, we have applied Local Binary Patterns Pattern (LBP) on Gradient image to encode salient micro-patterns of facial expressions. Experimental studies have shown that using discriminative regions provide better results than using the whole face regions whilst reducing features vector dimension.

  2. Body dysmorphic concerns, social adaptation, and motivation for psychotherapeutic support in dermatological outpatients.

    PubMed

    Ritter, Viktoria; Fluhr, Joachim W; Schliemann-Willers, Sibylle; Elsner, Peter; Strauß, Bernhard; Stangier, Ulrich

    2016-09-01

    Dermatologists are increasingly confronted with patients affected by body dysmorphic disorder (BDD). BDD is characterized by excessive preoccupation with one or more perceived defect(s) or flaw(s) in physical appearance which are not observable or appear slight to others. So far, there have been only few studies examining the prevalence of BDD in dermatological outpatients. In addition, the need for psychotherapeutic support in dermatological outpatients with body dysmorphic concerns has not yet been systematically examined. The objective of the present study was therefore to investigate the frequency of body dysmorphic concerns as well as social adaptation and the need for psychotherapeutic support in the aforementioned patient group. A total of 252 dermatological outpatients seen at a German university hospital were consecutively enrolled, and examined using the Dysmorphic Concerns Questionnaire, the Social Adaptation Self-Evaluation Scale, and the German version of the University of Rhode Island Change Assessment Scale. 7.9 % of all outpatients (unselected sample) showed positive test results, suggesting clinically relevant body dysmorphic concerns. Patients with clinically relevant body dysmorphic concerns exhibited poor social adaptation. Contrary to expectations, these patients revealed a high motivation for change, indicating the necessity for psychotherapeutic support. Our findings confirm previous prevalence rates of BDD in dermatological outpatients, and highlight the need for providing psychotherapeutic support to dermatological patients. © 2016 Deutsche Dermatologische Gesellschaft (DDG). Published by John Wiley & Sons Ltd.

  3. Safe Zone Quantification of the Third Sacral Segment in Normal and Dysmorphic Sacra.

    PubMed

    Hwang, John S; Reilly, Mark C; Shaath, Mohammad K; Changoor, Stuart; Eastman, Jonathan; Routt, Milton Lee Chip; Sirkin, Michael S; Adams, Mark R

    2018-04-01

    To quantify the osseous anatomy of the dysmorphic third sacral segment and assess its ability to accommodate internal fixation. Retrospective chart review of a trauma database. University Level 1 Trauma Center. Fifty-nine patients over the age of 18 with computed tomography scans of the pelvis separated into 2 groups: a group with normal pelvic anatomy and a group with sacral dysmorphism. The sacral osseous area was measured on computed tomography scans in the axial, coronal, and sagittal planes in normal and dysmorphic pelves. These measurements were used to determine the possibility of accommodating a transiliac transsacral screw in the third sacral segment. In the normal group, the S3 coronal transverse width averaged 7.71 mm and the S3 axial transverse width averaged 7.12 mm. The mean S3 cross-sectional area of the normal group was 55.8 mm. The dysmorphic group was found to have a mean S3 coronal transverse width of 9.49 mm, an average S3 axial transverse width of 9.14 mm, and an S3 cross-sectional area of 77.9 mm. The third sacral segment of dysmorphic sacra has a larger osseous pathway available to safely accommodate a transiliac transsacral screw when compared with normal sacra. The S3 segment of dysmorphic sacra can serve as an additional site for screw placement when treating unstable posterior pelvic ring fractures.

  4. Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

    PubMed Central

    Clayton-Smith, Jill; Walters, Sarah; Hobson, Emma; Burkitt-Wright, Emma; Smith, Rupert; Toutain, Annick; Amiel, Jeanne; Lyonnet, Stanislas; Mansour, Sahar; Fitzpatrick, David; Ciccone, Roberto; Ricca, Ivana; Zuffardi, Orsetta; Donnai, Dian

    2009-01-01

    Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated with hypotonia and spasticity, severe learning disability and recurrent pneumonia. We identified an Xq28 duplication in three families where several male patients had presented with intestinal pseudo-obstruction or bladder distension. The affected boys had similar dysmorphic facial appearances. Subsequently, we ascertained seven further families where the proband presented with similar features. We demonstrated duplications of the Xq28 region in five of these additional families. In addition to MECP2, these duplications encompassed several other genes already known to be associated with diseases including SLC6A8, L1CAM and Filamin A (FLNA). The two remaining families were shown to have intragenic duplications of FLNA only. We discuss which elements of the Xq28 duplication phenotype may be associated with the various genes in the duplication. We propose that duplication of FLNA may contribute to the bowel and bladder phenotype seen in these seven families. PMID:18854860

  5. Incongruence Between Observers’ and Observed Facial Muscle Activation Reduces Recognition of Emotional Facial Expressions From Video Stimuli

    PubMed Central

    Wingenbach, Tanja S. H.; Brosnan, Mark; Pfaltz, Monique C.; Plichta, Michael M.; Ashwin, Chris

    2018-01-01

    According to embodied cognition accounts, viewing others’ facial emotion can elicit the respective emotion representation in observers which entails simulations of sensory, motor, and contextual experiences. In line with that, published research found viewing others’ facial emotion to elicit automatic matched facial muscle activation, which was further found to facilitate emotion recognition. Perhaps making congruent facial muscle activity explicit produces an even greater recognition advantage. If there is conflicting sensory information, i.e., incongruent facial muscle activity, this might impede recognition. The effects of actively manipulating facial muscle activity on facial emotion recognition from videos were investigated across three experimental conditions: (a) explicit imitation of viewed facial emotional expressions (stimulus-congruent condition), (b) pen-holding with the lips (stimulus-incongruent condition), and (c) passive viewing (control condition). It was hypothesised that (1) experimental condition (a) and (b) result in greater facial muscle activity than (c), (2) experimental condition (a) increases emotion recognition accuracy from others’ faces compared to (c), (3) experimental condition (b) lowers recognition accuracy for expressions with a salient facial feature in the lower, but not the upper face area, compared to (c). Participants (42 males, 42 females) underwent a facial emotion recognition experiment (ADFES-BIV) while electromyography (EMG) was recorded from five facial muscle sites. The experimental conditions’ order was counter-balanced. Pen-holding caused stimulus-incongruent facial muscle activity for expressions with facial feature saliency in the lower face region, which reduced recognition of lower face region emotions. Explicit imitation caused stimulus-congruent facial muscle activity without modulating recognition. Methodological implications are discussed. PMID:29928240

  6. Incongruence Between Observers' and Observed Facial Muscle Activation Reduces Recognition of Emotional Facial Expressions From Video Stimuli.

    PubMed

    Wingenbach, Tanja S H; Brosnan, Mark; Pfaltz, Monique C; Plichta, Michael M; Ashwin, Chris

    2018-01-01

    According to embodied cognition accounts, viewing others' facial emotion can elicit the respective emotion representation in observers which entails simulations of sensory, motor, and contextual experiences. In line with that, published research found viewing others' facial emotion to elicit automatic matched facial muscle activation, which was further found to facilitate emotion recognition. Perhaps making congruent facial muscle activity explicit produces an even greater recognition advantage. If there is conflicting sensory information, i.e., incongruent facial muscle activity, this might impede recognition. The effects of actively manipulating facial muscle activity on facial emotion recognition from videos were investigated across three experimental conditions: (a) explicit imitation of viewed facial emotional expressions (stimulus-congruent condition), (b) pen-holding with the lips (stimulus-incongruent condition), and (c) passive viewing (control condition). It was hypothesised that (1) experimental condition (a) and (b) result in greater facial muscle activity than (c), (2) experimental condition (a) increases emotion recognition accuracy from others' faces compared to (c), (3) experimental condition (b) lowers recognition accuracy for expressions with a salient facial feature in the lower, but not the upper face area, compared to (c). Participants (42 males, 42 females) underwent a facial emotion recognition experiment (ADFES-BIV) while electromyography (EMG) was recorded from five facial muscle sites. The experimental conditions' order was counter-balanced. Pen-holding caused stimulus-incongruent facial muscle activity for expressions with facial feature saliency in the lower face region, which reduced recognition of lower face region emotions. Explicit imitation caused stimulus-congruent facial muscle activity without modulating recognition. Methodological implications are discussed.

  7. Body Dysmorphic Disorder: Contraindication or Ethical Justification for Female Genital Cosmetic Surgery in Adolescents.

    PubMed

    Spriggs, Merle; Gillam, Lynn

    2016-11-01

    Is Female Genital Cosmetic Surgery for an adolescent with Body Dysmorphic Disorder ever ethically justified? Cosmetic genital surgery (specifically labioplasty) for adolescent girls is one of the most ethically controversial forms of cosmetic surgery and Body Dysmorphic Disorder is typically seen as a contraindication for cosmetic surgery. Two key ethical concerns are (1) that Body Dysmorphic Disorder undermines whatever capacity for autonomy the adolescent has; and (2) even if there is valid parental consent, the presence of Body Dysmorphic Disorder means that cosmetic surgery will fail in its aims. In this article, we challenge, in an evidence-based way, the standard view that Body Dysmorphic Disorder is a contraindication for genital cosmetic surgery in adolescents. Our argument gathers together and unifies a substantial amount of disparate research in the context of an ethical argument. We focus on empirical questions about benefit and harm, because these are ethically significant. Answers to these questions affect the answer to the ethical question. We question the claim that there would be no benefit from surgery in this situation, and we consider possible harms that might be done if treatment is refused. For an adolescent with Body Dysmorphic Disorder, the most important thing may be to avoid harm. We find ourselves arguing for the ethical justifiability of cosmetic labioplasty for an adolescent with Body Dysmorphic Disorder, even though we recognize that it is a counter intuitive position. We explain how we reached our conclusion. © 2016 John Wiley & Sons Ltd.

  8. The relationship between perceived social support and severity of body dysmorphic disorder symptoms: the role of gender.

    PubMed

    Marques, Luana; Weingarden, Hilary M; LeBlanc, Nicole J; Siev, Jedidiah; Wilhelm, Sabine

    2011-09-01

    Whether social support is associated with severity of body dysmorphic symptoms is unknown. To address this gap in the literature, the present study aims to examine the association between three domains of perceived social support (i.e., family, friends, and significant others) and severity of body dysmorphic disorder symptoms. Participants (N = 400) with symptoms consistent with diagnosis of body dysmorphic disorder completed measures of symptomatology and social support via the internet. More perceived social support from friends and significant others was associated with less severe body dysmorphic disorder symptoms for males, and more perceived social support from family and friends was associated with less severe body dysmorphic disorder symptoms among females. Additionally, gender moderated the association between perceived social support from significant others and symptom severity, such that perceived social support from a significant other was significantly negatively associated with body dysmorphic symptom severity in males, but not females. The present study implicates social support as an important area of future body dysmorphic disorder research.

  9. Qualitative and Quantitative Analysis for Facial Complexion in Traditional Chinese Medicine

    PubMed Central

    Zhao, Changbo; Li, Guo-zheng; Li, Fufeng; Wang, Zhi; Liu, Chang

    2014-01-01

    Facial diagnosis is an important and very intuitive diagnostic method in Traditional Chinese Medicine (TCM). However, due to its qualitative and experience-based subjective property, traditional facial diagnosis has a certain limitation in clinical medicine. The computerized inspection method provides classification models to recognize facial complexion (including color and gloss). However, the previous works only study the classification problems of facial complexion, which is considered as qualitative analysis in our perspective. For quantitative analysis expectation, the severity or degree of facial complexion has not been reported yet. This paper aims to make both qualitative and quantitative analysis for facial complexion. We propose a novel feature representation of facial complexion from the whole face of patients. The features are established with four chromaticity bases splitting up by luminance distribution on CIELAB color space. Chromaticity bases are constructed from facial dominant color using two-level clustering; the optimal luminance distribution is simply implemented with experimental comparisons. The features are proved to be more distinctive than the previous facial complexion feature representation. Complexion recognition proceeds by training an SVM classifier with the optimal model parameters. In addition, further improved features are more developed by the weighted fusion of five local regions. Extensive experimental results show that the proposed features achieve highest facial color recognition performance with a total accuracy of 86.89%. And, furthermore, the proposed recognition framework could analyze both color and gloss degrees of facial complexion by learning a ranking function. PMID:24967342

  10. Dysmorphic concern is related to delusional proneness and negative affect in a community sample.

    PubMed

    Keating, Charlotte; Thomas, Neil; Stephens, Jessie; Castle, David J; Rossell, Susan L

    2016-06-30

    Body image concerns are common in the general population and in some mental illnesses reach pathological levels. We investigated whether dysmorphic concern with appearance (a preoccupation with minor or imagined defects in appearance) is explained by psychotic processes in a community sample. In a cross-sectional design, two hundred and twenty six participants completed an online survey battery including: The Dysmorphic Concern Questionnaire; the Peters Delusional inventory; the Aberrant Salience Inventory; and the Depression, Anxiety, Stress Scale. Participants were native English speakers residing in Australia. Dysmorphic concern was positively correlated with delusional proneness, aberrant salience and negative emotion. Regression established that negative emotion and delusional proneness predicted dysmorphic concern, whereas, aberrant salience did not. Although delusional proneness was related to body dysmorphia, there was no evidence that it was related to aberrant salience. Understanding the contribution of other psychosis processes, and other health related variables to the severity of dysmorphic concern will be a focus of future research. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  11. Facial anatomy.

    PubMed

    Marur, Tania; Tuna, Yakup; Demirci, Selman

    2014-01-01

    Dermatologic problems of the face affect both function and aesthetics, which are based on complex anatomical features. Treating dermatologic problems while preserving the aesthetics and functions of the face requires knowledge of normal anatomy. When performing successfully invasive procedures of the face, it is essential to understand its underlying topographic anatomy. This chapter presents the anatomy of the facial musculature and neurovascular structures in a systematic way with some clinically important aspects. We describe the attachments of the mimetic and masticatory muscles and emphasize their functions and nerve supply. We highlight clinically relevant facial topographic anatomy by explaining the course and location of the sensory and motor nerves of the face and facial vasculature with their relations. Additionally, this chapter reviews the recent nomenclature of the branching pattern of the facial artery. © 2013 Elsevier Inc. All rights reserved.

  12. Cognitive-behavioral therapy for body dysmorphic disorder: a review of its efficacy

    PubMed Central

    Prazeres, Angélica M; Nascimento, Antônio L; Fontenelle, Leonardo F

    2013-01-01

    The aim of this study was to review the efficacy of different methods of cognitive and/or behavioral therapies used to treat body dysmorphic disorder. We evaluated all case series, open studies, controlled trials, and meta-analyses of cognitive and/or behavioral treatment approaches to body dysmorphic disorder published up to July 2012, identified through a search in the PubMed/Medline, PsycINFO, ISI Web of Knowledge, and Scopus databases. Our findings indicate that individual and group cognitive behavioral therapies are superior to waiting list for the treatment of body dysmorphic disorder. While the efficacy of cognitive therapy is supported by one controlled trial, utility of behavioral therapy is suggested by one open study and one controlled relapse prevention follow-up study. There is a pressing need to conduct head-to-head studies, with appropriate, active, control treatment groups, in order to examine further the efficacy of cognitive and/or behavioral therapies for body dysmorphic disorder. PMID:23467711

  13. Placebo-Controlled Study of Pimozide Augmentation of Fluoxetine in Body Dysmorphic Disorder

    PubMed Central

    Phillips, Katharine A.

    2006-01-01

    Objective Although body dysmorphic disorder often responds to serotonin reuptake inhibitors (SRIs), most patients do not respond or respond only partially. However, placebo-controlled studies of augmentation of SRIs have not been done. Furthermore, although 40%–50% of patients are delusional, studies of antipsychotic medications have not been done. Method Twenty-eight patients with body dysmorphic disorder or its delusional variant participated in an 8-week, placebo-controlled, double-blind, parallel-group study of pimozide augmentation of fluoxetine. Results Pimozide was not more effective than placebo: two (18.2%) of 11 subjects responded to pimozide and three (17.6%) of 17 subjects responded to placebo. There was no significant effect of baseline delusionality on endpoint severity of body dysmorphic disorder. Delusionality did not decrease significantly more with pimozide than placebo. Conclusions Pimozide augmentation of fluoxetine treatment for body dysmorphic disorder was not more effective than placebo, even in more delusional patients. Further studies of augmentation for SRIs are needed. PMID:15677604

  14. 19q13.32 microdeletion syndrome: three new cases.

    PubMed

    Castillo, Angela; Kramer, Nancy; Schwartz, Charles E; Miles, Judith H; DuPont, Barbara R; Rosenfeld, Jill A; Graham, John M

    2014-01-01

    A previous report described a unique phenotype associated with an apparently de novo 732 kb 19q13.32 microdeletion, consisting of intellectual disability, facial asymmetry, ptosis, oculomotor abnormalities, orofacial clefts, cardiac defects, scoliosis and chronic constipation. We report three unrelated patients with developmental delay and dysmorphic features, who were all found to have interstitial 19q13.32 microdeletions of varying sizes. Both the previously reported patient and our Patient 1 with a larger, 1.3-Mb deletion have distinctive dysmorphic features and medical problems, allowing us to define a recognizable 19q13.32 microdeletion syndrome. Patient 1 was hypotonic and dysmorphic at birth, with aplasia of the posterior corpus callosum, bilateral ptosis, oculomotor paralysis, down-slanting palpebral fissures, facial asymmetry, submucosal cleft palate, micrognathia, wide-spaced nipples, right-sided aortic arch, hypospadias, bilateral inguinal hernias, double toenail of the left second toe, partial 2-3 toe syndactyly, kyphoscoliosis and colonic atony. Therefore, the common features of the 19q13.32 microdeletion syndrome include facial asymmetry, ptosis, oculomotor paralysis, orofacial clefting, micrognathia, kyphoscoliosis, aortic defects and colonic atony. These findings are probably related to a deletion of some combination of the 20-23 genes in common between these two patients, especially NPAS1, NAPA, ARHGAP35, SLC8A2, DHX34, MEIS3, and ZNF541. These candidate genes are expressed in the brain parenchyma, glia, heart, gastrointestinal tract and musculoskeletal system and likely play a fundamental role in the expression of this phenotype. This report delineates the phenotypic spectrum associated with the haploinsufficiency of genes found in 19q13.32. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  15. Pharmacotherapy Relapse Prevention in Body Dysmorphic Disorder: A Double-Blind, Placebo-Controlled Trial.

    PubMed

    Phillips, Katharine A; Keshaviah, Aparna; Dougherty, Darin D; Stout, Robert L; Menard, William; Wilhelm, Sabine

    2016-09-01

    Body dysmorphic disorder is common, distressing, and often severely impairing. Serotonin reuptake inhibitors appear efficacious, but the few existing pharmacotherapy studies were short term (≤4 months), and no relapse prevention studies or continuation phase studies have been conducted to the authors' knowledge. The authors report results from the first relapse prevention study in body dysmorphic disorder. Adults (N=100) with DSM-IV body dysmorphic disorder received open-label escitalopram for 14 weeks (phase 1); 58 responders were then randomized to double-blind continuation treatment with escitalopram versus switch to placebo for 6 months (phase 2). Reliable and valid outcome measures were utilized. In phase 1, 67.0% of treated subjects and 81.1% of subjects who completed phase 1 responded to escitalopram. Body dysmorphic disorder severity (in both the intent-to-treat and the completer groups) and insight, depressive symptoms, psychosocial functioning, and quality of life significantly improved from baseline to end of phase 1. In phase 2, time to relapse was significantly longer with escitalopram than with placebo treatment (hazard ratio=2.72, 95% CI=1.01-8.57). Phase 2 relapse proportions were 18% for escitalopram and 40% for placebo. Among escitalopram-treated subjects, body dysmorphic disorder severity significantly decreased over time during the continuation phase, with 35.7% of subjects showing further improvement. There were no significant group differences in body dysmorphic disorder severity or insight, depressive symptoms, psychosocial functioning, or quality of life. Continuation-phase escitalopram delayed time to relapse, and fewer escitalopram-treated subjects relapsed than did placebo-treated subjects. Body dysmorphic disorder severity significantly improved during 6 additional months of escitalopram treatment following acute response; more than one-third of escitalopram-treated subjects experienced further improvement.

  16. Morphometric study of the true S1 and S2 of the normal and dysmorphic sacralized sacra.

    PubMed

    Firat, Ayşegül; Alemdaroğlu, Kadir Bahadır; Özmeriç, Ahmet; Yücens, Mehmet; Göksülük, Dinçer

    2017-06-12

    This study aimed to generate data for the S1 and S2 alar pedicle and body and the alar orientations for both dysmorphic and normal sacra. The study comprised two groups: Group N consisted of 53 normal sacra and Group D included 10 dysmorphic sacra. Various features such as alar pedicle circumference; anterior, middle, and posterior axis of the sacral ala; sacral body height and width; and sagittal thickness were measured. In group N, the median anterior axis of the alae was observed to be 30° on the right and 25° on the left, the median midline axis was found to be 20° on the right and 15° on the left, and the median posterior alar axis was -15° on the right and -20° on the left. The true S1 and S2 alar pedicle circumferences were observed to be significantly smaller in group D, which demonstrated a shorter S1 alar pedicle mean circumference, significantly narrower S1 body mean width, and considerably tapered sagittal thickness. Our analysis indicated that dysmorphic sacra have a lower sagittal thickness and width of bodies and smaller alar pedicles, which explains the difficulties in their percutaneous fixation.

  17. Tracking subtle stereotypes of children with trisomy 21: from facial-feature-based to implicit stereotyping.

    PubMed

    Enea-Drapeau, Claire; Carlier, Michèle; Huguet, Pascal

    2012-01-01

    Stigmatization is one of the greatest obstacles to the successful integration of people with Trisomy 21 (T21 or Down syndrome), the most frequent genetic disorder associated with intellectual disability. Research on attitudes and stereotypes toward these people still focuses on explicit measures subjected to social-desirability biases, and neglects how variability in facial stigmata influences attitudes and stereotyping. The participants were 165 adults including 55 young adult students, 55 non-student adults, and 55 professional caregivers working with intellectually disabled persons. They were faced with implicit association tests (IAT), a well-known technique whereby response latency is used to capture the relative strength with which some groups of people--here photographed faces of typically developing children and children with T21--are automatically (without conscious awareness) associated with positive versus negative attributes in memory. Each participant also rated the same photographed faces (consciously accessible evaluations). We provide the first evidence that the positive bias typically found in explicit judgments of children with T21 is smaller for those whose facial features are highly characteristic of this disorder, compared to their counterparts with less distinctive features and to typically developing children. We also show that this bias can coexist with negative evaluations at the implicit level (with large effect sizes), even among professional caregivers. These findings support recent models of feature-based stereotyping, and more importantly show how crucial it is to go beyond explicit evaluations to estimate the true extent of stigmatization of intellectually disabled people.

  18. A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature.

    PubMed

    Seidel, Jörg; Heller, Anita; Senger, Gabriele; Starke, Heike; Chudoba, Ilse; Kelbova, Christina; Tönnies, Holger; Neitzel, Heidemarie; Haase, Claudia; Beensen, Volkmar; Zintl, Felix; Claussen, Uwe; Liehr, Thomas

    2003-09-01

    We report a 13-year-old female patient with multiple congenital abnormalities (microcephaly, facial dysmorphism, anteverted dysplastic ears and postaxial hexadactyly), mental retardation, and adipose-gigantism. Ultrasonography revealed no signs of a heart defect or renal abnormalities. She showed no speech development and suffered from a behavioural disorder. CNS abnormalities were excluded by cerebral MRI. Initial cytogenetic studies by Giemsa banding revealed an aberrant karyotype involving three chromosomes, t(2;4;11). By high resolution banding and multicolour fluoresence in-situ hybridisation (M-FISH, MCB), chromosome 1 was also found to be involved in the complex chromosomal aberrations, confirming the karyotype 46,XX,t(2;11;4).ish t(1;4;2;11)(q43;q21.1;p12-p13.1;p14.1). To the best of our knowledge no patient has been previously described with such a complex translocation involving 4 chromosomes. This case demonstrates that conventional chromosome banding techniques such as Giemsa banding are not always sufficient to characterise complex chromosomal abnormalities. Only by the additional utilisation of molecular cytogenetic techniques could the complexity of the present chromosomal rearrangements and the origin of the involved chromosomal material be detected. Further molecular genetic studies will be performed to clarify the chromosomal breakpoints potentially responsible for the observed clinical symptoms. This report demonstrates that multicolour-fluorescence in-situ hybridisation studies should be performed in patients with congenital abnormalities and suspected aberrant karyotypes in addition to conventional Giemsa banding.

  19. Why 8-Year-Olds Cannot Tell the Difference between Steve Martin and Paul Newman: Factors Contributing to the Slow Development of Sensitivity to the Spacing of Facial Features

    ERIC Educational Resources Information Center

    Mondloch, Catherine J.; Dobson, Kate S.; Parsons, Julie; Maurer, Daphne

    2004-01-01

    Children are nearly as sensitive as adults to some cues to facial identity (e.g., differences in the shape of internal features and the external contour), but children are much less sensitive to small differences in the spacing of facial features. To identify factors that contribute to this pattern, we compared 8-year-olds' sensitivity to spacing…

  20. ['Barbie Doll Syndrome'. A case report of body dysmorphic disorder].

    PubMed

    Gruber, Maria; Jahn, Rebecca; Stolba, Karin; Ossege, Michael

    2018-03-01

    This case report aims to present a 37-year-old women striving to shape her body like a Barbie doll of which she has been fascinated since childhood. She could hardly tolerate any deviation from this beauty ideal. She has been admitted to the psychosomatic ward due to an eating disorder. The ICD-10 and DSM-5 criteria were established for axis I disorders and the German version of the SCID II interview (for DSM-4) was applied for axis II disorders. Additionally, the "modified Yale-Brown Obsessive Compulsive Scale for body dysmorphic disorder" was carried out. The diagnosis of dysmorphophobia (ICD-10: F45.21) or body dysmorphic disorder (DSM-5: 300.7) and bulimia nervosa (ICD-10: F50.2; DSM-5: 307.51) was confirmed. The patient fulfilled criteria of an avoidant, depressive and histrionic personality disorder. Psychopharmacological treatment with Fluoxetine was started and the patient participated in an intensive inpatient psychosomatic program. The body image, self-concept and the sense of shame were therapeutic key topics. The present case report focuses on body dysmorphic disorder as a distinctive entity with high prevalence. Diagnostic criteria of different classification systems were contrasted and comorbidity with eating disorders was discussed. In clinical praxis, body dysmorphic disorder remains underdiagnosed, especially when cooccurring with an eating disorder. However, the correct diagnosis could be relevant for therapy planning.

  1. A Newborn with Panhypopituitarism and Seizures.

    PubMed

    Kale, Trupti; Patil, Rachit; Pandit, Ramesh

    2017-01-01

    Interstitial deletions on the short arm of chromosome 20 are uncommon, and therefore the clinical phenotype is poorly defined. Very few cases have been reported in the literature so far. In this report, we describe a 4-month-old female with a heterozygous deletion at 20p11.21p12.1 with panhypopituitarism and cardiac, gastrointestinal, and genitourinary anomalies along with dysmorphic facial features. We compared and discussed similar cases with overlapping deletions in 20p11 region. We wish to report this rare occurrence as this may better define the phenotypes of the 20p interstitial deletion with certain dysmorphic features, multiorgan involvement, and related clinical characteristics in this patient population.

  2. A Newborn with Panhypopituitarism and Seizures

    PubMed Central

    Patil, Rachit; Pandit, Ramesh

    2017-01-01

    Interstitial deletions on the short arm of chromosome 20 are uncommon, and therefore the clinical phenotype is poorly defined. Very few cases have been reported in the literature so far. In this report, we describe a 4-month-old female with a heterozygous deletion at 20p11.21p12.1 with panhypopituitarism and cardiac, gastrointestinal, and genitourinary anomalies along with dysmorphic facial features. We compared and discussed similar cases with overlapping deletions in 20p11 region. We wish to report this rare occurrence as this may better define the phenotypes of the 20p interstitial deletion with certain dysmorphic features, multiorgan involvement, and related clinical characteristics in this patient population. PMID:28255477

  3. Classifying Facial Actions

    PubMed Central

    Donato, Gianluca; Bartlett, Marian Stewart; Hager, Joseph C.; Ekman, Paul; Sejnowski, Terrence J.

    2010-01-01

    The Facial Action Coding System (FACS) [23] is an objective method for quantifying facial movement in terms of component actions. This system is widely used in behavioral investigations of emotion, cognitive processes, and social interaction. The coding is presently performed by highly trained human experts. This paper explores and compares techniques for automatically recognizing facial actions in sequences of images. These techniques include analysis of facial motion through estimation of optical flow; holistic spatial analysis, such as principal component analysis, independent component analysis, local feature analysis, and linear discriminant analysis; and methods based on the outputs of local filters, such as Gabor wavelet representations and local principal components. Performance of these systems is compared to naive and expert human subjects. Best performances were obtained using the Gabor wavelet representation and the independent component representation, both of which achieved 96 percent accuracy for classifying 12 facial actions of the upper and lower face. The results provide converging evidence for the importance of using local filters, high spatial frequencies, and statistical independence for classifying facial actions. PMID:21188284

  4. Association of Frontal and Lateral Facial Attractiveness.

    PubMed

    Gu, Jeffrey T; Avilla, David; Devcic, Zlatko; Karimi, Koohyar; Wong, Brian J F

    2018-01-01

    Despite the large number of studies focused on defining frontal or lateral facial attractiveness, no reports have examined whether a significant association between frontal and lateral facial attractiveness exists. To examine the association between frontal and lateral facial attractiveness and to identify anatomical features that may influence discordance between frontal and lateral facial beauty. Paired frontal and lateral facial synthetic images of 240 white women (age range, 18-25 years) were evaluated from September 30, 2004, to September 29, 2008, using an internet-based focus group (n = 600) on an attractiveness Likert scale of 1 to 10, with 1 being least attractive and 10 being most attractive. Data analysis was performed from December 6, 2016, to March 30, 2017. The association between frontal and lateral attractiveness scores was determined using linear regression. Outliers were defined as data outside the 95% individual prediction interval. To identify features that contribute to score discordance between frontal and lateral attractiveness scores, each of these image pairs were scrutinized by an evaluator panel for facial features that were present in the frontal or lateral projections and absent in the other respective facial projections. Attractiveness scores obtained from internet-based focus groups. For the 240 white women studied (mean [SD] age, 21.4 [2.2] years), attractiveness scores ranged from 3.4 to 9.5 for frontal images and 3.3 to 9.4 for lateral images. The mean (SD) frontal attractiveness score was 6.9 (1.4), whereas the mean (SD) lateral attractiveness score was 6.4 (1.3). Simple linear regression of frontal and lateral attractiveness scores resulted in a coefficient of determination of r2 = 0.749. Eight outlier pairs were identified and analyzed by panel evaluation. Panel evaluation revealed no clinically applicable association between frontal and lateral images among outliers; however, contributory facial features were suggested

  5. Tensor Rank Preserving Discriminant Analysis for Facial Recognition.

    PubMed

    Tao, Dapeng; Guo, Yanan; Li, Yaotang; Gao, Xinbo

    2017-10-12

    Facial recognition, one of the basic topics in computer vision and pattern recognition, has received substantial attention in recent years. However, for those traditional facial recognition algorithms, the facial images are reshaped to a long vector, thereby losing part of the original spatial constraints of each pixel. In this paper, a new tensor-based feature extraction algorithm termed tensor rank preserving discriminant analysis (TRPDA) for facial image recognition is proposed; the proposed method involves two stages: in the first stage, the low-dimensional tensor subspace of the original input tensor samples was obtained; in the second stage, discriminative locality alignment was utilized to obtain the ultimate vector feature representation for subsequent facial recognition. On the one hand, the proposed TRPDA algorithm fully utilizes the natural structure of the input samples, and it applies an optimization criterion that can directly handle the tensor spectral analysis problem, thereby decreasing the computation cost compared those traditional tensor-based feature selection algorithms. On the other hand, the proposed TRPDA algorithm extracts feature by finding a tensor subspace that preserves most of the rank order information of the intra-class input samples. Experiments on the three facial databases are performed here to determine the effectiveness of the proposed TRPDA algorithm.

  6. Body dysmorphic disorder in the dermatology patient.

    PubMed

    Koblenzer, Caroline S

    Body dysmorphic disorder is primarily a psychiatric disorder, in which the patient believes that some normal or very near normal aspect of his or her physical appearance is distorted or ugly. Should there be a minor abnormality, it is grossly exaggerated in the mind of the patient, causing feelings of shame and embarrassment and leading daily to spending hours at the mirror, or any reflecting surface, as the patient tries to conceal or remove the perceived abnormality through the development of ritualistic behavior. Although other organs can be involved-for example, the shape of the nose or a portion of an ear- the skin, hair, and nails are most commonly involved, while the patient constantly seeks reassurance about appearance from friends and family. There is a broad spectrum of severity in body dysmorphic disorder, ranging from obsessional worry to frank delusion, and the psychiatric comorbidities-anxiety, depression, and personality disorder-are prominent parts of the picture. Unfortunately, the psychiatric comorbidities and the negative impact on every aspect of the patient's life may not be recognized by dermatologists and other non-psychiatric physicians, so that effective treatment is often not instituted or appropriate referrals made. This paper describes the incidence, possible etiologies, and clinical picture of body dysmorphic disorder in dermatology patients and discusses interpersonal approaches that may permit appropriate treatment or referral to take place. Specific treatments and prognosis are also discussed. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Hepatitis Diagnosis Using Facial Color Image

    NASA Astrophysics Data System (ADS)

    Liu, Mingjia; Guo, Zhenhua

    Facial color diagnosis is an important diagnostic method in traditional Chinese medicine (TCM). However, due to its qualitative, subjective and experi-ence-based nature, traditional facial color diagnosis has a very limited application in clinical medicine. To circumvent the subjective and qualitative problems of facial color diagnosis of Traditional Chinese Medicine, in this paper, we present a novel computer aided facial color diagnosis method (CAFCDM). The method has three parts: face Image Database, Image Preprocessing Module and Diagnosis Engine. Face Image Database is carried out on a group of 116 patients affected by 2 kinds of liver diseases and 29 healthy volunteers. The quantitative color feature is extracted from facial images by using popular digital image processing techni-ques. Then, KNN classifier is employed to model the relationship between the quantitative color feature and diseases. The results show that the method can properly identify three groups: healthy, severe hepatitis with jaundice and severe hepatitis without jaundice with accuracy higher than 73%.

  8. Influence of gravity upon some facial signs.

    PubMed

    Flament, F; Bazin, R; Piot, B

    2015-06-01

    Facial clinical signs and their integration are the basis of perception than others could have from ourselves, noticeably the age they imagine we are. Facial modifications in motion and their objective measurements before and after application of skin regimen are essential to go further in evaluation capacities to describe efficacy in facial dynamics. Quantification of facial modifications vis à vis gravity will allow us to answer about 'control' of facial shape in daily activities. Standardized photographs of the faces of 30 Caucasian female subjects of various ages (24-73 year) were successively taken at upright and supine positions within a short time interval. All these pictures were therefore reframed - any bias due to facial features was avoided when evaluating one single sign - for clinical quotation by trained experts of several facial signs regarding published standardized photographic scales. For all subjects, the supine position increased facial width but not height, giving a more fuller appearance to the face. More importantly, the supine position changed the severity of facial ageing features (e.g. wrinkles) compared to an upright position and whether these features were attenuated or exacerbated depended on their facial location. Supine station mostly modifies signs of the lower half of the face whereas those of the upper half appear unchanged or slightly accentuated. These changes appear much more marked in the older groups, where some deep labial folds almost vanish. These alterations decreased the perceived ages of the subjects by an average of 3.8 years. Although preliminary, this study suggests that a 90° rotation of the facial skin vis à vis gravity induces rapid rearrangements among which changes in tensional forces within and across the face, motility of interstitial free water among underlying skin tissue and/or alterations of facial Langer lines, likely play a significant role. © 2015 Society of Cosmetic Scientists and the Société Fran

  9. Tracking Subtle Stereotypes of Children with Trisomy 21: From Facial-Feature-Based to Implicit Stereotyping

    PubMed Central

    Enea-Drapeau, Claire; Carlier, Michèle; Huguet, Pascal

    2012-01-01

    Background Stigmatization is one of the greatest obstacles to the successful integration of people with Trisomy 21 (T21 or Down syndrome), the most frequent genetic disorder associated with intellectual disability. Research on attitudes and stereotypes toward these people still focuses on explicit measures subjected to social-desirability biases, and neglects how variability in facial stigmata influences attitudes and stereotyping. Methodology/Principal Findings The participants were 165 adults including 55 young adult students, 55 non-student adults, and 55 professional caregivers working with intellectually disabled persons. They were faced with implicit association tests (IAT), a well-known technique whereby response latency is used to capture the relative strength with which some groups of people—here photographed faces of typically developing children and children with T21—are automatically (without conscious awareness) associated with positive versus negative attributes in memory. Each participant also rated the same photographed faces (consciously accessible evaluations). We provide the first evidence that the positive bias typically found in explicit judgments of children with T21 is smaller for those whose facial features are highly characteristic of this disorder, compared to their counterparts with less distinctive features and to typically developing children. We also show that this bias can coexist with negative evaluations at the implicit level (with large effect sizes), even among professional caregivers. Conclusion These findings support recent models of feature-based stereotyping, and more importantly show how crucial it is to go beyond explicit evaluations to estimate the true extent of stigmatization of intellectually disabled people. PMID:22496796

  10. X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation.

    PubMed

    Savasta, Salvatore; Carlone, Giorgia; Castagnoli, Riccardo; Chiappe, Francesca; Bassanese, Francesco; Piras, Roberta; Salpietro, Vincenzo; Brazzelli, Valeria; Verrotti, Alberto; Marseglia, Gian L

    2017-01-01

    We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database. To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations. © 2017 S. Karger AG, Basel.

  11. Automatic facial animation parameters extraction in MPEG-4 visual communication

    NASA Astrophysics Data System (ADS)

    Yang, Chenggen; Gong, Wanwei; Yu, Lu

    2002-01-01

    Facial Animation Parameters (FAPs) are defined in MPEG-4 to animate a facial object. The algorithm proposed in this paper to extract these FAPs is applied to very low bit-rate video communication, in which the scene is composed of a head-and-shoulder object with complex background. This paper addresses the algorithm to automatically extract all FAPs needed to animate a generic facial model, estimate the 3D motion of head by points. The proposed algorithm extracts human facial region by color segmentation and intra-frame and inter-frame edge detection. Facial structure and edge distribution of facial feature such as vertical and horizontal gradient histograms are used to locate the facial feature region. Parabola and circle deformable templates are employed to fit facial feature and extract a part of FAPs. A special data structure is proposed to describe deformable templates to reduce time consumption for computing energy functions. Another part of FAPs, 3D rigid head motion vectors, are estimated by corresponding-points method. A 3D head wire-frame model provides facial semantic information for selection of proper corresponding points, which helps to increase accuracy of 3D rigid object motion estimation.

  12. Emotion recognition in body dysmorphic disorder: application of the Reading the Mind in the Eyes Task.

    PubMed

    Buhlmann, Ulrike; Winter, Anna; Kathmann, Norbert

    2013-03-01

    Body dysmorphic disorder (BDD) is characterized by perceived appearance-related defects, often tied to aspects of the face or head (e.g., acne). Deficits in decoding emotional expressions have been examined in several psychological disorders including BDD. Previous research indicates that BDD is associated with impaired facial emotion recognition, particularly in situations that involve the BDD sufferer him/herself. The purpose of this study was to further evaluate the ability to read other people's emotions among 31 individuals with BDD, and 31 mentally healthy controls. We applied the Reading the Mind in the Eyes task, in which participants are presented with a series of pairs of eyes, one at a time, and are asked to identify the emotion that describes the stimulus best. The groups did not differ with respect to decoding other people's emotions by looking into their eyes. Findings are discussed in light of previous research examining emotion recognition in BDD. Copyright © 2013. Published by Elsevier Ltd.

  13. Factors contributing to the adaptation aftereffects of facial expression.

    PubMed

    Butler, Andrea; Oruc, Ipek; Fox, Christopher J; Barton, Jason J S

    2008-01-29

    Previous studies have demonstrated the existence of adaptation aftereffects for facial expressions. Here we investigated which aspects of facial stimuli contribute to these aftereffects. In Experiment 1, we examined the role of local adaptation to image elements such as curvature, shape and orientation, independent of expression, by using hybrid faces constructed from either the same or opposing expressions. While hybrid faces made with consistent expressions generated aftereffects as large as those with normal faces, there were no aftereffects from hybrid faces made from different expressions, despite the fact that these contained the same local image elements. In Experiment 2, we examined the role of facial features independent of the normal face configuration by contrasting adaptation with whole faces to adaptation with scrambled faces. We found that scrambled faces also generated significant aftereffects, indicating that expressive features without a normal facial configuration could generate expression aftereffects. In Experiment 3, we examined the role of facial configuration by using schematic faces made from line elements that in isolation do not carry expression-related information (e.g. curved segments and straight lines) but that convey an expression when arranged in a normal facial configuration. We obtained a significant aftereffect for facial configurations but not scrambled configurations of these line elements. We conclude that facial expression aftereffects are not due to local adaptation to image elements but due to high-level adaptation of neural representations that involve both facial features and facial configuration.

  14. Neural processing of fearful and happy facial expressions during emotion-relevant and emotion-irrelevant tasks: a fixation-to-feature approach

    PubMed Central

    Neath-Tavares, Karly N.; Itier, Roxane J.

    2017-01-01

    Research suggests an important role of the eyes and mouth for discriminating facial expressions of emotion. A gaze-contingent procedure was used to test the impact of fixation to facial features on the neural response to fearful, happy and neutral facial expressions in an emotion discrimination (Exp.1) and an oddball detection (Exp.2) task. The N170 was the only eye-sensitive ERP component, and this sensitivity did not vary across facial expressions. In both tasks, compared to neutral faces, responses to happy expressions were seen as early as 100–120ms occipitally, while responses to fearful expressions started around 150ms, on or after the N170, at both occipital and lateral-posterior sites. Analyses of scalp topographies revealed different distributions of these two emotion effects across most of the epoch. Emotion processing interacted with fixation location at different times between tasks. Results suggest a role of both the eyes and mouth in the neural processing of fearful expressions and of the mouth in the processing of happy expressions, before 350ms. PMID:27430934

  15. Neural processing of fearful and happy facial expressions during emotion-relevant and emotion-irrelevant tasks: A fixation-to-feature approach.

    PubMed

    Neath-Tavares, Karly N; Itier, Roxane J

    2016-09-01

    Research suggests an important role of the eyes and mouth for discriminating facial expressions of emotion. A gaze-contingent procedure was used to test the impact of fixation to facial features on the neural response to fearful, happy and neutral facial expressions in an emotion discrimination (Exp.1) and an oddball detection (Exp.2) task. The N170 was the only eye-sensitive ERP component, and this sensitivity did not vary across facial expressions. In both tasks, compared to neutral faces, responses to happy expressions were seen as early as 100-120ms occipitally, while responses to fearful expressions started around 150ms, on or after the N170, at both occipital and lateral-posterior sites. Analyses of scalp topographies revealed different distributions of these two emotion effects across most of the epoch. Emotion processing interacted with fixation location at different times between tasks. Results suggest a role of both the eyes and mouth in the neural processing of fearful expressions and of the mouth in the processing of happy expressions, before 350ms. Copyright © 2016 Elsevier B.V. All rights reserved.

  16. Facial emotion recognition and borderline personality pathology.

    PubMed

    Meehan, Kevin B; De Panfilis, Chiara; Cain, Nicole M; Antonucci, Camilla; Soliani, Antonio; Clarkin, John F; Sambataro, Fabio

    2017-09-01

    The impact of borderline personality pathology on facial emotion recognition has been in dispute; with impaired, comparable, and enhanced accuracy found in high borderline personality groups. Discrepancies are likely driven by variations in facial emotion recognition tasks across studies (stimuli type/intensity) and heterogeneity in borderline personality pathology. This study evaluates facial emotion recognition for neutral and negative emotions (fear/sadness/disgust/anger) presented at varying intensities. Effortful control was evaluated as a moderator of facial emotion recognition in borderline personality. Non-clinical multicultural undergraduates (n = 132) completed a morphed facial emotion recognition task of neutral and negative emotional expressions across different intensities (100% Neutral; 25%/50%/75% Emotion) and self-reported borderline personality features and effortful control. Greater borderline personality features related to decreased accuracy in detecting neutral faces, but increased accuracy in detecting negative emotion faces, particularly at low-intensity thresholds. This pattern was moderated by effortful control; for individuals with low but not high effortful control, greater borderline personality features related to misattributions of emotion to neutral expressions, and enhanced detection of low-intensity emotional expressions. Individuals with high borderline personality features may therefore exhibit a bias toward detecting negative emotions that are not or barely present; however, good self-regulatory skills may protect against this potential social-cognitive vulnerability. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  17. LBP and SIFT based facial expression recognition

    NASA Astrophysics Data System (ADS)

    Sumer, Omer; Gunes, Ece O.

    2015-02-01

    This study compares the performance of local binary patterns (LBP) and scale invariant feature transform (SIFT) with support vector machines (SVM) in automatic classification of discrete facial expressions. Facial expression recognition is a multiclass classification problem and seven classes; happiness, anger, sadness, disgust, surprise, fear and comtempt are classified. Using SIFT feature vectors and linear SVM, 93.1% mean accuracy is acquired on CK+ database. On the other hand, the performance of LBP-based classifier with linear SVM is reported on SFEW using strictly person independent (SPI) protocol. Seven-class mean accuracy on SFEW is 59.76%. Experiments on both databases showed that LBP features can be used in a fairly descriptive way if a good localization of facial points and partitioning strategy are followed.

  18. Cosmetics as a feature of the extended human phenotype: modulation of the perception of biologically important facial signals.

    PubMed

    Etcoff, Nancy L; Stock, Shannon; Haley, Lauren E; Vickery, Sarah A; House, David M

    2011-01-01

    Research on the perception of faces has focused on the size, shape, and configuration of inherited features or the biological phenotype, and largely ignored the effects of adornment, or the extended phenotype. Research on the evolution of signaling has shown that animals frequently alter visual features, including color cues, to attract, intimidate or protect themselves from conspecifics. Humans engage in conscious manipulation of visual signals using cultural tools in real time rather than genetic changes over evolutionary time. Here, we investigate one tool, the use of color cosmetics. In two studies, we asked viewers to rate the same female faces with or without color cosmetics, and we varied the style of makeup from minimal (natural), to moderate (professional), to dramatic (glamorous). Each look provided increasing luminance contrast between the facial features and surrounding skin. Faces were shown for 250 ms or for unlimited inspection time, and subjects rated them for attractiveness, competence, likeability and trustworthiness. At 250 ms, cosmetics had significant positive effects on all outcomes. Length of inspection time did not change the effect for competence or attractiveness. However, with longer inspection time, the effect of cosmetics on likability and trust varied by specific makeup looks, indicating that cosmetics could impact automatic and deliberative judgments differently. The results suggest that cosmetics can create supernormal facial stimuli, and that one way they may do so is by exaggerating cues to sexual dimorphism. Our results provide evidence that judgments of facial trustworthiness and attractiveness are at least partially separable, that beauty has a significant positive effect on judgment of competence, a universal dimension of social cognition, but has a more nuanced effect on the other universal dimension of social warmth, and that the extended phenotype significantly influences perception of biologically important signals at first

  19. Cosmetics as a Feature of the Extended Human Phenotype: Modulation of the Perception of Biologically Important Facial Signals

    PubMed Central

    Etcoff, Nancy L.; Stock, Shannon; Haley, Lauren E.; Vickery, Sarah A.; House, David M.

    2011-01-01

    Research on the perception of faces has focused on the size, shape, and configuration of inherited features or the biological phenotype, and largely ignored the effects of adornment, or the extended phenotype. Research on the evolution of signaling has shown that animals frequently alter visual features, including color cues, to attract, intimidate or protect themselves from conspecifics. Humans engage in conscious manipulation of visual signals using cultural tools in real time rather than genetic changes over evolutionary time. Here, we investigate one tool, the use of color cosmetics. In two studies, we asked viewers to rate the same female faces with or without color cosmetics, and we varied the style of makeup from minimal (natural), to moderate (professional), to dramatic (glamorous). Each look provided increasing luminance contrast between the facial features and surrounding skin. Faces were shown for 250 ms or for unlimited inspection time, and subjects rated them for attractiveness, competence, likeability and trustworthiness. At 250 ms, cosmetics had significant positive effects on all outcomes. Length of inspection time did not change the effect for competence or attractiveness. However, with longer inspection time, the effect of cosmetics on likability and trust varied by specific makeup looks, indicating that cosmetics could impact automatic and deliberative judgments differently. The results suggest that cosmetics can create supernormal facial stimuli, and that one way they may do so is by exaggerating cues to sexual dimorphism. Our results provide evidence that judgments of facial trustworthiness and attractiveness are at least partially separable, that beauty has a significant positive effect on judgment of competence, a universal dimension of social cognition, but has a more nuanced effect on the other universal dimension of social warmth, and that the extended phenotype significantly influences perception of biologically important signals at first

  20. The Influence of Changes in Size and Proportion of Selected Facial Features (Eyes, Nose, Mouth) on Assessment of Similarity between Female Faces.

    PubMed

    Lewandowski, Zdzisław

    2015-09-01

    The project aimed at finding the answers to the following two questions: to what extent does a change in size, height or width of the selected facial features influence the assessment of likeness between an original female composite portrait and a modified one? And how does the sex of the person who judges the images have an impact on the perception of likeness of facial features? The first stage of the project consisted of creating the image of the averaged female faces. Then the basic facial features like eyes, nose and mouth were cut out of the averaged face and each of these features was transformed in three ways: its size was changed by reduction or enlargement, its height was modified through reduction or enlargement of the above-mentioned features and its width was altered through widening or narrowing. In each out of six feature alternation methods, intensity of modification reached up to 20% of the original size with changes every 2%. The features altered in such a way were again stuck onto the original faces and retouched. The third stage consisted of the assessment, performed by the judges of both sexes, of the extent of likeness between the averaged composite portrait (without any changes) and the modified portraits. The results indicate that there are significant differences in the assessment of likeness of the portraits with some features modified to the original ones. The images with changes in the size and height of the nose received the lowest scores on the likeness scale, which indicates that these changes were perceived by the subjects as the most important. The photos with changes in the height of lip vermillion thickness (the lip height), lip width and the height and width of eye slit, in turn, received high scores of likeness, in spite of big changes, which signifies that these modifications were perceived as less important when compared to the other features investigated.

  1. Victimization, social anxiety, and body dysmorphic concerns: appearance-based rejection sensitivity as a mediator.

    PubMed

    Lavell, Cassie H; Zimmer-Gembeck, Melanie J; Farrell, Lara J; Webb, Haley

    2014-09-01

    Body dysmorphic disorder (BDD) is characterized by extreme preoccupation with perceived deficits in physical appearance, and sufferers experience severe impairment in functioning. Previous research has indicated that individuals with BDD are high in social anxiety, and often report being the victims of appearance-based teasing. However, there is little research into the possible mechanisms that might explain these relationships. The current study examined appearance-based rejection sensitivity as a mediator between perceived appearance-based victimization, social anxiety, and body dysmorphic symptoms in a sample of 237 Australian undergraduate psychology students. Appearance-based rejection sensitivity fully mediated the relationship between appearance-based victimization and body dysmorphic symptoms, and partially mediated the relationship between social anxiety and body dysmorphic symptoms. Findings suggest that individuals high in social anxiety or those who have a history of more appearance-based victimization may have a bias towards interpreting further appearance-based rejection, which may contribute to extreme appearance concerns such as BDD. Copyright © 2014 Elsevier Ltd. All rights reserved.

  2. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

    PubMed

    Lamb, Allen N; Rosenfeld, Jill A; Neill, Nicholas J; Talkowski, Michael E; Blumenthal, Ian; Girirajan, Santhosh; Keelean-Fuller, Debra; Fan, Zheng; Pouncey, Jill; Stevens, Cathy; Mackay-Loder, Loren; Terespolsky, Deborah; Bader, Patricia I; Rosenbaum, Kenneth; Vallee, Stephanie E; Moeschler, John B; Ladda, Roger; Sell, Susan; Martin, Judith; Ryan, Shawnia; Jones, Marilyn C; Moran, Rocio; Shealy, Amy; Madan-Khetarpal, Suneeta; McConnell, Juliann; Surti, Urvashi; Delahaye, Andrée; Heron-Longe, Bénédicte; Pipiras, Eva; Benzacken, Brigitte; Passemard, Sandrine; Verloes, Alain; Isidor, Bertrand; Le Caignec, Cedric; Glew, Gwen M; Opheim, Kent E; Descartes, Maria; Eichler, Evan E; Morton, Cynthia C; Gusella, James F; Schultz, Roger A; Ballif, Blake C; Shaffer, Lisa G

    2012-04-01

    SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Despite its important developmental roles, SOX5 disruption has yet to be associated with human disease. We report one individual with a reciprocal translocation breakpoint within SOX5, eight individuals with intragenic SOX5 deletions (four are apparently de novo and one inherited from an affected parent), and seven individuals with larger 12p12 deletions encompassing SOX5. Common features in these subjects include prominent speech delay, intellectual disability, behavior abnormalities, and dysmorphic features. The phenotypic impact of the deletions may depend on the location of the deletion and, consequently, which of the three major SOX5 protein isoforms are affected. One intragenic deletion, involving only untranslated exons, was present in a more mildly affected subject, was inherited from a healthy parent and grandparent, and is similar to a deletion found in a control cohort. Therefore, some intragenic SOX5 deletions may have minimal phenotypic effect. Based on the location of the deletions in the subjects compared to the controls, the de novo nature of most of these deletions, and the phenotypic similarities among cases, SOX5 appears to be a dosage-sensitive, developmentally important gene. © 2012 Wiley Periodicals, Inc.

  3. Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.

    PubMed

    El Chehadeh-Djebbar, Salima; Blair, Edward; Holder-Espinasse, Muriel; Moncla, Anne; Frances, Anne-Marie; Rio, Marlène; Debray, François-Guillaume; Rump, Patrick; Masurel-Paulet, Alice; Gigot, Nadège; Callier, Patrick; Duplomb, Laurence; Aral, Bernard; Huet, Frédéric; Thauvin-Robinet, Christel; Faivre, Laurence

    2013-07-01

    Cohen syndrome (CS) is a rare autosomal recessive condition caused by mutations and/or large rearrangements in the VPS13B gene. CS clinical features, including developmental delay, the typical facial gestalt, chorioretinal dystrophy (CRD) and neutropenia, are well described. CS diagnosis is generally raised after school age, when visual disturbances lead to CRD diagnosis and to VPS13B gene testing. This relatively late diagnosis precludes accurate genetic counselling. The aim of this study was to analyse the evolution of CS facial features in the early period of life, particularly before school age (6 years), to find clues for an earlier diagnosis. Photographs of 17 patients with molecularly confirmed CS were analysed, from birth to preschool age. By comparing their facial phenotype when growing, we show that there are no special facial characteristics before 1 year. However, between 2 and 6 years, CS children already share common facial features such as a short neck, a square face with micrognathia and full cheeks, a hypotonic facial appearance, epicanthic folds, long ears with an everted upper part of the auricle and/or a prominent lobe, a relatively short philtrum, a small and open mouth with downturned corners, a thick lower lip and abnormal eye shapes. These early transient facial features evolve to typical CS facial features with aging. These observations emphasize the importance of ophthalmological tests and neutrophil count in children in preschool age presenting with developmental delay, hypotonia and the facial features we described here, for an earlier CS diagnosis.

  4. Replicating distinctive facial features in lineups: identification performance in young versus older adults.

    PubMed

    Badham, Stephen P; Wade, Kimberley A; Watts, Hannah J E; Woods, Natalie G; Maylor, Elizabeth A

    2013-04-01

    Criminal suspects with distinctive facial features, such as tattoos or bruising, may stand out in a police lineup. To prevent suspects from being unfairly identified on the basis of their distinctive feature, the police often manipulate lineup images to ensure that all of the members appear similar. Recent research shows that replicating a distinctive feature across lineup members enhances eyewitness identification performance, relative to removing that feature on the target. In line with this finding, the present study demonstrated that with young adults (n = 60; mean age = 20), replication resulted in more target identifications than did removal in target-present lineups and that replication did not impair performance, relative to removal, in target-absent lineups. Older adults (n = 90; mean age = 74) performed significantly worse than young adults, identifying fewer targets and more foils; moreover, older adults showed a minimal benefit from replication over removal. This pattern is consistent with the associative deficit hypothesis of aging, such that older adults form weaker links between faces and their distinctive features. Although replication did not produce much benefit over removal for older adults, it was not detrimental to their performance. Therefore, the results suggest that replication may not be as beneficial to older adults as it is to young adults and demonstrate a new practical implication of age-related associative deficits in memory.

  5. New perspectives in the treatment of body dysmorphic disorder

    PubMed Central

    Hong, Kevin; Nezgovorova, Vera; Hollander, Eric

    2018-01-01

    Body dysmorphic disorder (BDD) is a disabling illness with a high worldwide prevalence. Patients demonstrate a debilitating preoccupation with one or more perceived defects, often marked by poor insight or delusional convictions. Multiple studies have suggested that selective serotonin reuptake inhibitors and various cognitive behavioral therapy modalities are effective first-line treatments in decreasing BDD severity, relieving depressive symptoms, restoring insight, and increasing quality of life. Selective serotonin reuptake inhibitors have also recently been shown to be effective for relapse prevention. This review provides a comprehensive summary of the current understanding of BDD, including its clinical features, epidemiology, genetics, and current treatment modalities. Additional research is needed to fully elucidate the relationship between BDD and comorbid illnesses such as obsessive–compulsive-related disorders and depression and to develop therapies for refractory patients and those who have contraindications for pharmacological intervention. PMID:29636904

  6. Body dysmorphic disorder: prevalence and outcomes in an oculofacial plastic surgery practice.

    PubMed

    Woolley, Austin J; Perry, Julian D

    2015-06-01

    To determine the prevalence, associated factors, and surgical outcomes of patients with body dysmorphic disorder in an oculofacial surgery practice. Retrospective cross-sectional analysis of a consecutive case series. Participants consisted of a consecutive series of 728 patients who completed the Dysmorphic Concern Questionnaire in an oculofacial surgery practice at The Cole Eye Institute between November 2013 and June 2014. A questionnaire score ≥9 was used as a positive screen for body dysmorphic disorder. Three control patients scoring ≤8 in the same month were randomly selected for each positive-screening patient. Main outcome measures included number of reoperations, surgical complications, and follow-up visits; preoperative and postoperative pain scores; and the technician word count. Categorical variables were analyzed with Pearson χ(2) tests or Fisher exact tests, while continuous variables were analyzed with Wilcoxon rank sum tests or t tests. A total of 728 patients completed the questionnaire and 50 (6.9%) scored 9 or more. Using a confidence interval of 95%, patients in the positive questionnaire screen group were younger (P = .004), had more eyelid surgeries (P = .007), experienced higher rates of complications after surgery (P = .002), reported higher postoperative pain scores (P = .034), required more reoperations (P = .050), and had a higher technician word count compared to the control group (P = .003). The prevalence of body dysmorphic disorder in an oculofacial surgical setting matches reports from other surgical specialties, and is significantly higher than in the general population. Patients screening positively for body dysmorphic disorder tend to have higher postoperative pain scores and more postoperative complications. Copyright © 2015 Elsevier Inc. All rights reserved.

  7. Evaluation of facial expression in acute pain in cats.

    PubMed

    Holden, E; Calvo, G; Collins, M; Bell, A; Reid, J; Scott, E M; Nolan, A M

    2014-12-01

    To describe the development of a facial expression tool differentiating pain-free cats from those in acute pain. Observers shown facial images from painful and pain-free cats were asked to identify if they were in pain or not. From facial images, anatomical landmarks were identified and distances between these were mapped. Selected distances underwent statistical analysis to identify features discriminating pain-free and painful cats. Additionally, thumbnail photographs were reviewed by two experts to identify discriminating facial features between the groups. Observers (n = 68) had difficulty in identifying pain-free from painful cats, with only 13% of observers being able to discriminate more than 80% of painful cats. Analysis of 78 facial landmarks and 80 distances identified six significant factors differentiating pain-free and painful faces including ear position and areas around the mouth/muzzle. Standardised mouth and ear distances when combined showed excellent discrimination properties, correctly differentiating pain-free and painful cats in 98% of cases. Expert review supported these findings and a cartoon-type picture scale was developed from thumbnail images. Initial investigation into facial features of painful and pain-free cats suggests potentially good discrimination properties of facial images. Further testing is required for development of a clinical tool. © 2014 British Small Animal Veterinary Association.

  8. Human Amygdala Tracks a Feature-Based Valence Signal Embedded within the Facial Expression of Surprise.

    PubMed

    Kim, M Justin; Mattek, Alison M; Bennett, Randi H; Solomon, Kimberly M; Shin, Jin; Whalen, Paul J

    2017-09-27

    Human amygdala function has been traditionally associated with processing the affective valence (negative vs positive) of an emotionally charged event, especially those that signal fear or threat. However, this account of human amygdala function can be explained by alternative views, which posit that the amygdala might be tuned to either (1) general emotional arousal (activation vs deactivation) or (2) specific emotion categories (fear vs happy). Delineating the pure effects of valence independent of arousal or emotion category is a challenging task, given that these variables naturally covary under many circumstances. To circumvent this issue and test the sensitivity of the human amygdala to valence values specifically, we measured the dimension of valence within the single facial expression category of surprise. Given the inherent valence ambiguity of this category, we show that surprised expression exemplars are attributed valence and arousal values that are uniquely and naturally uncorrelated. We then present fMRI data from both sexes, showing that the amygdala tracks these consensus valence values. Finally, we provide evidence that these valence values are linked to specific visual features of the mouth region, isolating the signal by which the amygdala detects this valence information. SIGNIFICANCE STATEMENT There is an open question as to whether human amygdala function tracks the valence value of cues in the environment, as opposed to either a more general emotional arousal value or a more specific emotion category distinction. Here, we demonstrate the utility of surprised facial expressions because exemplars within this emotion category take on valence values spanning the dimension of bipolar valence (positive to negative) at a consistent level of emotional arousal. Functional neuroimaging data showed that amygdala responses tracked the valence of surprised facial expressions, unconfounded by arousal. Furthermore, a machine learning classifier identified

  9. Facial bacterial infections: folliculitis.

    PubMed

    Laureano, Ana Cristina; Schwartz, Robert A; Cohen, Philip J

    2014-01-01

    Facial bacterial infections are most commonly caused by infections of the hair follicles. Wherever pilosebaceous units are found folliculitis can occur, with the most frequent bacterial culprit being Staphylococcus aureus. We review different origins of facial folliculitis, distinguishing bacterial forms from other infectious and non-infectious mimickers. We distinguish folliculitis from pseudofolliculitis and perifolliculitis. Clinical features, etiology, pathology, and management options are also discussed. Copyright © 2014. Published by Elsevier Inc.

  10. Three-dimensional analysis of facial morphology.

    PubMed

    Liu, Yun; Kau, Chung How; Talbert, Leslie; Pan, Feng

    2014-09-01

    The objectives of this study were to evaluate sexual dimorphism for facial features within Chinese and African American populations and to compare the facial morphology by sex between these 2 populations. Three-dimensional facial images were acquired by using the portable 3dMDface System, which captured 189 subjects from 2 population groups of Chinese (n = 72) and African American (n = 117). Each population was categorized into male and female groups for evaluation. All subjects in the groups were aged between 18 and 30 years and had no apparent facial anomalies. A total of 23 anthropometric landmarks were identified on the three-dimensional faces of each subject. Twenty-one measurements in 4 regions, including 19 distances and 2 angles, were not only calculated but also compared within and between the Chinese and African American populations. The Student's t-test was used to analyze each data set obtained within each subgroup. Distinct facial differences were presented between the examined subgroups. When comparing the sex differences of facial morphology in the Chinese population, significant differences were noted in 71.43% of the parameters calculated, and the same proportion was found in the African American group. The facial morphologic differences between the Chinese and African American populations were evaluated by sex. The proportion of significant differences in the parameters calculated was 90.48% for females and 95.24% for males between the 2 populations. The African American population had a more convex profile and greater face width than those of the Chinese population. Sexual dimorphism for facial features was presented in both the Chinese and African American populations. In addition, there were significant differences in facial morphology between these 2 populations.

  11. A stable biologically motivated learning mechanism for visual feature extraction to handle facial categorization.

    PubMed

    Rajaei, Karim; Khaligh-Razavi, Seyed-Mahdi; Ghodrati, Masoud; Ebrahimpour, Reza; Shiri Ahmad Abadi, Mohammad Ebrahim

    2012-01-01

    The brain mechanism of extracting visual features for recognizing various objects has consistently been a controversial issue in computational models of object recognition. To extract visual features, we introduce a new, biologically motivated model for facial categorization, which is an extension of the Hubel and Wiesel simple-to-complex cell hierarchy. To address the synaptic stability versus plasticity dilemma, we apply the Adaptive Resonance Theory (ART) for extracting informative intermediate level visual features during the learning process, which also makes this model stable against the destruction of previously learned information while learning new information. Such a mechanism has been suggested to be embedded within known laminar microcircuits of the cerebral cortex. To reveal the strength of the proposed visual feature learning mechanism, we show that when we use this mechanism in the training process of a well-known biologically motivated object recognition model (the HMAX model), it performs better than the HMAX model in face/non-face classification tasks. Furthermore, we demonstrate that our proposed mechanism is capable of following similar trends in performance as humans in a psychophysical experiment using a face versus non-face rapid categorization task.

  12. Research on facial expression simulation based on depth image

    NASA Astrophysics Data System (ADS)

    Ding, Sha-sha; Duan, Jin; Zhao, Yi-wu; Xiao, Bo; Wang, Hao

    2017-11-01

    Nowadays, face expression simulation is widely used in film and television special effects, human-computer interaction and many other fields. Facial expression is captured by the device of Kinect camera .The method of AAM algorithm based on statistical information is employed to detect and track faces. The 2D regression algorithm is applied to align the feature points. Among them, facial feature points are detected automatically and 3D cartoon model feature points are signed artificially. The aligned feature points are mapped by keyframe techniques. In order to improve the animation effect, Non-feature points are interpolated based on empirical models. Under the constraint of Bézier curves we finish the mapping and interpolation. Thus the feature points on the cartoon face model can be driven if the facial expression varies. In this way the purpose of cartoon face expression simulation in real-time is came ture. The experiment result shows that the method proposed in this text can accurately simulate the facial expression. Finally, our method is compared with the previous method. Actual data prove that the implementation efficiency is greatly improved by our method.

  13. [Noonan syndrome can be diagnosed clinically and through molecular genetic analyses].

    PubMed

    Henningsen, Marie Krab; Jelsig, Anne Marie; Andersen, Helle; Brusgaard, Klaus; Ousager, Lilian Bomme; Hertz, Jens Michael

    2015-08-03

    Noonan syndrome is part of the group of RASopathies caused by germ line mutations in genes involved in the RAS/MAPK pathway. There is substantial phenotypic overlap among the RASopathies. Diagnosis of Noonan syndrome is often based on clinical features including dysmorphic facial features, short stature and congenital heart disease. Rapid advances in sequencing technology have made molecular genetic analyses a helpful tool in diagnosing and distinguishing Noonan syndrome from other RASopathies.

  14. Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations.

    PubMed

    Tyshchenko, Nataliya A; Riegel, Mariluce; Evseenkova, Elena G; Zerova, Tatjana E; Gorovenko, Nataliya G; Schinzel, Albert

    2007-01-01

    We report a patient with multiple dysmorphic signs and congenital malformations, representing a combination of clinical features of duplication (12p) and deletion (22)(q11.2) syndromes. The girl had overgrowth at birth, showed abnormal cranio-facial findings, cleft uvula, a complex conotruncal heart defect, a polycystic right kidney, and an umbilical hernia. She died at the age of 6 months of cardio-respiratory failure. Cytogenetic examination demonstrated a derivative chromosome 12 replacing one of the two chromosomes 22. The paternal karyotype was normal 46,XY while the mother's karyotype was 46,XX,rcp(12;22)(q13.2;q11.2). According to the published data, all patients with deletion 22q11.2 combined with other unbalanced chromosomal aberration have a more severe clinical expression than those with interstitial deletions.

  15. [Body dysmorphic disorder and aesthetic surgery: A systematic review].

    PubMed

    Kerfant, N; Henry, A-S; Ta, P; Trimaille, A; Philandrianos, C; Hu, W

    2015-12-01

    Patients suffering from body dysmorphic disorder (BDD) are preoccupied with an imagined or minor defect in appearance that causes significant distress and impairment in social and occupational functioning. Despite a rate of up to 15% of BDD patients reported in cosmetic surgery settings, there is no consensus on the best management for these patients. The main purpose of this article was to conduct a literature review on BDD and cosmetic surgery. Properly trained healthcare professionals in recognizing and diagnosing this pathology is essential for the delivery of quality psychiatric care while taking into account the high prevalence of body dysmorphic disorder patients in cosmetic surgery and the poor outcome of these patients following cosmetic procedures. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  16. Does Facial Amimia Impact the Recognition of Facial Emotions? An EMG Study in Parkinson’s Disease

    PubMed Central

    Argaud, Soizic; Delplanque, Sylvain; Houvenaghel, Jean-François; Auffret, Manon; Duprez, Joan; Vérin, Marc; Grandjean, Didier; Sauleau, Paul

    2016-01-01

    According to embodied simulation theory, understanding other people’s emotions is fostered by facial mimicry. However, studies assessing the effect of facial mimicry on the recognition of emotion are still controversial. In Parkinson’s disease (PD), one of the most distinctive clinical features is facial amimia, a reduction in facial expressiveness, but patients also show emotional disturbances. The present study used the pathological model of PD to examine the role of facial mimicry on emotion recognition by investigating EMG responses in PD patients during a facial emotion recognition task (anger, joy, neutral). Our results evidenced a significant decrease in facial mimicry for joy in PD, essentially linked to the absence of reaction of the zygomaticus major and the orbicularis oculi muscles in response to happy avatars, whereas facial mimicry for expressions of anger was relatively preserved. We also confirmed that PD patients were less accurate in recognizing positive and neutral facial expressions and highlighted a beneficial effect of facial mimicry on the recognition of emotion. We thus provide additional arguments for embodied simulation theory suggesting that facial mimicry is a potential lever for therapeutic actions in PD even if it seems not to be necessarily required in recognizing emotion as such. PMID:27467393

  17. Sad Facial Expressions Increase Choice Blindness

    PubMed Central

    Wang, Yajie; Zhao, Song; Zhang, Zhijie; Feng, Wenfeng

    2018-01-01

    Previous studies have discovered a fascinating phenomenon known as choice blindness—individuals fail to detect mismatches between the face they choose and the face replaced by the experimenter. Although previous studies have reported a couple of factors that can modulate the magnitude of choice blindness, the potential effect of facial expression on choice blindness has not yet been explored. Using faces with sad and neutral expressions (Experiment 1) and faces with happy and neutral expressions (Experiment 2) in the classic choice blindness paradigm, the present study investigated the effects of facial expressions on choice blindness. The results showed that the detection rate was significantly lower on sad faces than neutral faces, whereas no significant difference was observed between happy faces and neutral faces. The exploratory analysis of verbal reports found that participants who reported less facial features for sad (as compared to neutral) expressions also tended to show a lower detection rate of sad (as compared to neutral) faces. These findings indicated that sad facial expressions increased choice blindness, which might have resulted from inhibition of further processing of the detailed facial features by the less attractive sad expressions (as compared to neutral expressions). PMID:29358926

  18. Sad Facial Expressions Increase Choice Blindness.

    PubMed

    Wang, Yajie; Zhao, Song; Zhang, Zhijie; Feng, Wenfeng

    2017-01-01

    Previous studies have discovered a fascinating phenomenon known as choice blindness-individuals fail to detect mismatches between the face they choose and the face replaced by the experimenter. Although previous studies have reported a couple of factors that can modulate the magnitude of choice blindness, the potential effect of facial expression on choice blindness has not yet been explored. Using faces with sad and neutral expressions (Experiment 1) and faces with happy and neutral expressions (Experiment 2) in the classic choice blindness paradigm, the present study investigated the effects of facial expressions on choice blindness. The results showed that the detection rate was significantly lower on sad faces than neutral faces, whereas no significant difference was observed between happy faces and neutral faces. The exploratory analysis of verbal reports found that participants who reported less facial features for sad (as compared to neutral) expressions also tended to show a lower detection rate of sad (as compared to neutral) faces. These findings indicated that sad facial expressions increased choice blindness, which might have resulted from inhibition of further processing of the detailed facial features by the less attractive sad expressions (as compared to neutral expressions).

  19. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

    PubMed

    Schönewolf-Greulich, B; Tejada, M-I; Stephens, K; Hadzsiev, K; Gauthier, J; Brøndum-Nielsen, K; Pfundt, R; Ravn, K; Maortua, H; Gener, B; Martínez-Bouzas, C; Piton, A; Rouleau, G; Clayton-Smith, J; Kleefstra, T; Bisgaard, A-M; Tümer, Z

    2016-06-01

    Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecting Arg309 at the C-terminal end of the transcriptional repression domain (TRD). All patients have intellectual disability and present with some RTT features, but they do not fulfill the clinical criteria for typical or atypical RTT. Most of the patients also have mild facial dysmorphism. Intriguingly, the mother of an affected male patient is an asymptomatic carrier of this variant. It is therefore likely that the p.(Arg309Trp) variation does not necessarily lead to male lethality, and it results in a wide range of clinical features in females, probably influenced by different X-inactivation patterns in target tissues. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  20. [Body dysmorphic disorder].

    PubMed

    Grau, Katharina; Fegert, Jörg Michael; Allroggen, Marc

    2015-01-01

    Body dysmorphic disorder (BDD) is a relatively common disorder with a point prevalence of 0.7-2.4 %. BDD is characterized by the patient's excessive concern with an imagined or slight defect in physical appearance. BDD usually begins in adolescence. Comorbidity rates and also suicidality rates are high. The course of BDD tends to be chronic. According to the present state of knowledge, cognitive-behavioral therapy and pharmacotherapy with selective serotonin reuptake inhibitors are valuable options in the therapy of BDD. The case report describes a recent case of BDD with typical clinical and therapy-related characteristics. The aim of this work is to strengthen the awareness of BDD in clinical practice of child and adolescent psychiatry, facilitating an adequate diagnosis and treatment of the affected individuals.

  1. Potential link between body dysmorphic disorder symptoms and alexithymia in an eating-disordered treatment-seeking sample.

    PubMed

    Fenwick, Andrea Siân; Sullivan, Karen Anne

    2011-09-30

    This study aimed to explore the manifestation of body dysmorphic disorder symptoms in a sample of people with eating disorders and to investigate possible associations between body dysmorphia and alexithymia. Forty patients currently seeking treatment for an eating disorder completed a battery of six measures assessing alexithymia, mood, eating behaviours, weight-related body image, body dysmorphia and non-weight related body image. Significant moderate positive correlations (Pearson's r) between selected variables were found, suggesting that participants with high levels of dysmorphic concern (imagined ugliness) have more difficulty with the affective elements of alexithymia, that is, identifying and describing feelings. When depression, eating attitudes, and weight-related body image concerns were controlled for, significant moderate positive correlations between this alexithymia factor and dysmorphic concerns remained present. An independent-samples t-test between eating-disordered participants with and without symptoms of body dysmorphic disorder (BDD) revealed significant group differences in difficulties identifying feelings. This pattern of results was replicated when the groups were identified on the basis of dysmorphic concerns, as opposed to BDD symptoms. This study highlights the associations between alexithymia and body dysmorphia that have not previously been demonstrated. Copyright © 2011 Elsevier Ltd. All rights reserved.

  2. Facial expression recognition based on improved deep belief networks

    NASA Astrophysics Data System (ADS)

    Wu, Yao; Qiu, Weigen

    2017-08-01

    In order to improve the robustness of facial expression recognition, a method of face expression recognition based on Local Binary Pattern (LBP) combined with improved deep belief networks (DBNs) is proposed. This method uses LBP to extract the feature, and then uses the improved deep belief networks as the detector and classifier to extract the LBP feature. The combination of LBP and improved deep belief networks is realized in facial expression recognition. In the JAFFE (Japanese Female Facial Expression) database on the recognition rate has improved significantly.

  3. Facial Orientation and Facial Shape in Extant Great Apes: A Geometric Morphometric Analysis of Covariation

    PubMed Central

    Neaux, Dimitri; Guy, Franck; Gilissen, Emmanuel; Coudyzer, Walter; Vignaud, Patrick; Ducrocq, Stéphane

    2013-01-01

    The organization of the bony face is complex, its morphology being influenced in part by the rest of the cranium. Characterizing the facial morphological variation and craniofacial covariation patterns in extant hominids is fundamental to the understanding of their evolutionary history. Numerous studies on hominid facial shape have proposed hypotheses concerning the relationship between the anterior facial shape, facial block orientation and basicranial flexion. In this study we test these hypotheses in a sample of adult specimens belonging to three extant hominid genera (Homo, Pan and Gorilla). Intraspecific variation and covariation patterns are analyzed using geometric morphometric methods and multivariate statistics, such as partial least squared on three-dimensional landmarks coordinates. Our results indicate significant intraspecific covariation between facial shape, facial block orientation and basicranial flexion. Hominids share similar characteristics in the relationship between anterior facial shape and facial block orientation. Modern humans exhibit a specific pattern in the covariation between anterior facial shape and basicranial flexion. This peculiar feature underscores the role of modern humans' highly-flexed basicranium in the overall integration of the cranium. Furthermore, our results are consistent with the hypothesis of a relationship between the reduction of the value of the cranial base angle and a downward rotation of the facial block in modern humans, and to a lesser extent in chimpanzees. PMID:23441232

  4. Down syndrome detection from facial photographs using machine learning techniques

    NASA Astrophysics Data System (ADS)

    Zhao, Qian; Rosenbaum, Kenneth; Sze, Raymond; Zand, Dina; Summar, Marshall; Linguraru, Marius George

    2013-02-01

    Down syndrome is the most commonly occurring chromosomal condition; one in every 691 babies in United States is born with it. Patients with Down syndrome have an increased risk for heart defects, respiratory and hearing problems and the early detection of the syndrome is fundamental for managing the disease. Clinically, facial appearance is an important indicator in diagnosing Down syndrome and it paves the way for computer-aided diagnosis based on facial image analysis. In this study, we propose a novel method to detect Down syndrome using photography for computer-assisted image-based facial dysmorphology. Geometric features based on facial anatomical landmarks, local texture features based on the Contourlet transform and local binary pattern are investigated to represent facial characteristics. Then a support vector machine classifier is used to discriminate normal and abnormal cases; accuracy, precision and recall are used to evaluate the method. The comparison among the geometric, local texture and combined features was performed using the leave-one-out validation. Our method achieved 97.92% accuracy with high precision and recall for the combined features; the detection results were higher than using only geometric or texture features. The promising results indicate that our method has the potential for automated assessment for Down syndrome from simple, noninvasive imaging data.

  5. Occlusal and facial features in Amazon indigenous: An insight into the role of genetics and environment in the etiology dental malocclusion.

    PubMed

    de Souza, Bento Sousa; Bichara, Livia Monteiro; Guerreiro, João Farias; Quintão, Cátia Cardoso Abdo; Normando, David

    2015-09-01

    Indigenous people of the Xingu river present a similar tooth wear pattern, practise exclusive breast-feeding, no pacifier use, and have a large intertribal genetic distance. To revisit the etiology of dental malocclusion features considering these population characteristics. Occlusion and facial features of five semi-isolated Amazon indigenous populations (n=351) were evaluated and compared to previously published data from urban Amazon people. Malocclusion prevalence ranged from 33.8% to 66.7%. Overall this prevalence is lower when compared to urban people mainly regarding posterior crossbite. A high intertribal diversity was found. The Arara-Laranjal village had a population with a normal face profile (98%) and a high rate of normal occlusion (66.2%), while another group from the same ethnicity presented a high prevalence of malocclusion, the highest occurrence of Class III malocclusion (32.6%) and long face (34.8%). In Pat-Krô village the population had the highest prevalence of Class II malocclusion (43.9%), convex profile (38.6%), increased overjet (36.8%) and deep bite (15.8%). Another village's population, from the same ethnicity, had a high frequency of anterior open bite (22.6%) and anterior crossbite (12.9%). The highest occurrence of bi-protrusion was found in the group with the lowest prevalence of dental crowding, and vice versa. Supported by previous genetic studies and given their similar environmental conditions, the high intertribal diversity of occlusal and facial features suggests that genetic factors contribute substantially to the morphology of occlusal and facial features in the indigenous groups studied. The low prevalence of posterior crossbite in the remote indigenous populations compared with urban populations may relate to prolonged breastfeeding and an absence of pacifiers in the indigenous groups. Copyright © 2015 Elsevier Ltd. All rights reserved.

  6. A comparison study of body dysmorphic disorder versus social phobia

    PubMed Central

    Kelly, Megan M.; Dalrymple, Kristy; Zimmerman, Mark; Phillips, Katharine A.

    2012-01-01

    Body dysmorphic disorder (BDD) shares many characteristics with social phobia (SP), including high levels of social anxiety and avoidance, but to our knowledge no studies have directly compared these disorders’ demographic and clinical features. Demographic and clinical features were compared in individuals with BDD (n=172), SP (n=644), and comorbid BDD/SP (n=125). SP participants had a significantly earlier age of onset and lower educational attainment than BDD participants. BDD participants were significantly less likely to ever be married than SP participants, had a greater likelihood of ever being psychiatrically hospitalized, and had significantly lower mean GAF scores than SP participants. The two groups had different comorbidity patterns, which included a greater likelihood for BDD participants to have comorbid obsessive-compulsive disorder (OCD) or an eating disorder, versus a greater likelihood for SP participants to have a comorbid non-OCD anxiety disorder. The comorbid BDD/SP group had significantly greater morbidity across several domains than the SP only group, but not the BDD only group. In summary, although BDD and SP were similar across many demographic and clinical features, they had important differences. Future studies are needed to confirm these findings and address similarities and differences between these disorders across a broader range of variables. PMID:22999105

  7. Evaluation of Relationship Between Body Dysmorphic Disorder and Self-Esteem in Rhinoplasty Candidates.

    PubMed

    Baykal, Bahadir; Erdim, Ibrahim; Ozbay, Isa; Oghan, Fatih; Oncu, Fatih; Erdogdu, Zeynep; Kayhan, Fatma Tulin

    2015-11-01

    To investigate the relationship between body dysmorphic syndrome and self-esteem in rhinoplasty candidates. A negative statistical correlation was evident between Rosenberg Self-Esteem Scale (RSES) and Body Dysmorphic Disorder Examination-Self Report (BDDE-SR) scores. In terms of responses to the first Body Dysmorphic Disorder Questionnaire (BDDQ) question, which focuses on general attitude toward body dysmorphic syndrome, the average RSES "YES" score was significantly less than the "NO" score. No significant differences appeared between RSES scores and scores for the 4th subgroup of BDDQ questions (subgroups A, B, and C; these questions explore how much time is spent daily on maintenance of bodily appearance). However, significant differences appeared between scores for the 4th subgroup of BDDQ questions and BDDE-SR scores. The average BDD-SR score of subgroup A (less than 1 hour spent on bodily maintenance) was significantly lower than those of group B (1-3 hours) and group C (more than 3 hours). However, no significant differences appeared in average BDD-SR scores between subgroups B and C. In this prospective study, 56 patients (31 females and 25 males) were evaluated preoperatively using the BDDQ, the BDDE-SR, and the RSES. Patients younger than 15 years and those with deformities caused by trauma were excluded. Rhinoplasty candidates had higher levels of body dysmorphic disorder (BDD). Although patients with low RSES scores were more likely to have BDD, rhinoplasty candidates were not notably deficient in self-esteem. However, in rhinoplasty candidates with low RSES scores, the frequency of BDD was elevated. Therefore, the authors suggest that rhinoplasty candidates with low RSES scores should be investigated carefully in terms of BDD.

  8. Automated diagnosis of fetal alcohol syndrome using 3D facial image analysis

    PubMed Central

    Fang, Shiaofen; McLaughlin, Jason; Fang, Jiandong; Huang, Jeffrey; Autti-Rämö, Ilona; Fagerlund, Åse; Jacobson, Sandra W.; Robinson, Luther K.; Hoyme, H. Eugene; Mattson, Sarah N.; Riley, Edward; Zhou, Feng; Ward, Richard; Moore, Elizabeth S.; Foroud, Tatiana

    2012-01-01

    Objectives Use three-dimensional (3D) facial laser scanned images from children with fetal alcohol syndrome (FAS) and controls to develop an automated diagnosis technique that can reliably and accurately identify individuals prenatally exposed to alcohol. Methods A detailed dysmorphology evaluation, history of prenatal alcohol exposure, and 3D facial laser scans were obtained from 149 individuals (86 FAS; 63 Control) recruited from two study sites (Cape Town, South Africa and Helsinki, Finland). Computer graphics, machine learning, and pattern recognition techniques were used to automatically identify a set of facial features that best discriminated individuals with FAS from controls in each sample. Results An automated feature detection and analysis technique was developed and applied to the two study populations. A unique set of facial regions and features were identified for each population that accurately discriminated FAS and control faces without any human intervention. Conclusion Our results demonstrate that computer algorithms can be used to automatically detect facial features that can discriminate FAS and control faces. PMID:18713153

  9. Cognitive-Behavioral Therapy for Adolescent Body Dysmorphic Disorder

    ERIC Educational Resources Information Center

    Greenberg, Jennifer L.; Markowitz, Sarah; Petronko, Michael R.; Taylor, Caitlin E.; Wilhelm, Sabine; Wilson, G. Terence

    2010-01-01

    The onset of appearance-related concerns associated with body dysmorphic disorder (BDD) typically occurs in adolescence, and these concerns are often severe enough to interfere with normal development and psychosocial functioning. Cognitive behavioral therapy (CBT) is an effective treatment for adults with BDD. However, no treatment studies…

  10. Facial contrast is a cue for perceiving health from the face.

    PubMed

    Russell, Richard; Porcheron, Aurélie; Sweda, Jennifer R; Jones, Alex L; Mauger, Emmanuelle; Morizot, Frederique

    2016-09-01

    How healthy someone appears has important social consequences. Yet the visual cues that determine perceived health remain poorly understood. Here we report evidence that facial contrast-the luminance and color contrast between internal facial features and the surrounding skin-is a cue for the perception of health from the face. Facial contrast was measured from a large sample of Caucasian female faces, and was found to predict ratings of perceived health. Most aspects of facial contrast were positively related to perceived health, meaning that faces with higher facial contrast appeared healthier. In 2 subsequent experiments, we manipulated facial contrast and found that participants perceived faces with increased facial contrast as appearing healthier than faces with decreased facial contrast. These results support the idea that facial contrast is a cue for perceived health. This finding adds to the growing knowledge about perceived health from the face, and helps to ground our understanding of perceived health in terms of lower-level perceptual features such as contrast. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

  11. Radiological features of late-onset lymphoedema in Noonan's syndrome.

    PubMed

    Ho, Wan-Ling; Wang, Jou-Kou; Li, Yiu-Wah

    2003-03-01

    Noonan's syndrome is a multiple congenital anomaly syndrome with diverse manifestations. Lymphatic abnormalities occur in less than 20% of patients. We report a 14-year-old boy who presented with swollen lower limbs and dysmorphic features characteristic of Noonan's syndrome. The radiological features of this unusual case of late-onset lymphoedema in association with Noonan's syndrome are presented.

  12. Clinical features and management of facial nerve paralysis in children: analysis of 24 cases.

    PubMed

    Cha, H E; Baek, M K; Yoon, J H; Yoon, B K; Kim, M J; Lee, J H

    2010-04-01

    To evaluate the causes, treatment modalities and recovery rate of paediatric facial nerve paralysis. We analysed 24 cases of paediatric facial nerve paralysis diagnosed in the otolaryngology department of Gachon University Gil Medical Center between January 2001 and June 2006. The most common cause was idiopathic palsy (16 cases, 66.7 per cent). The most common degree of facial nerve paralysis on first presentation was House-Brackmann grade IV (15 of 24 cases). All cases were treated with steroids. One of the 24 cases was also treated surgically with facial nerve decompression. Twenty-two cases (91.6 per cent) recovered to House-Brackmann grade I or II over the six-month follow-up period. Facial nerve paralysis in children can generally be successfully treated with conservative measures. However, in cases associated with trauma, radiological investigation is required for further evaluation and treatment.

  13. Ocular Manifestations of Oblique Facial Clefts

    PubMed Central

    Ortube, Maria Carolina; Dipple, Katrina; Setoguchi, Yoshio; Kawamoto, Henry K.; Demer, Joseph L.

    2014-01-01

    Introduction In the Tessier classification, craniofacial clefts are numbered from 0 to 14 and extend along constant axes through the eyebrows, eyelids, maxilla, nostrils, and the lips. We studied a patient with bilateral cleft 10 associated with ocular abnormalities. Method Clinical report with orbital and cranial computed tomography. Results After pregnancy complicated by oligohydramnios, digoxin, and lisinopril exposure, a boy was born with facial and ocular dysmorphism. Examination at age 26 months showed bilateral epibulbar dermoids, covering half the corneal surface, and unilateral morning glory anomaly of the optic nerve. Ductions of the right eye were normal, but the left eye had severely impaired ductions in all directions, left hypotropia, and esotropia. Under anesthesia, the left eye could not be rotated freely in any direction. Bilateral Tessier cleft number 10 was implicated by the presence of colobomata of the middle third of the upper eyelids and eyebrows. As the cleft continued into the hairline, there was marked anterior scalp alopecia. Computed x-ray tomography showed a left middle cranial fossa arachnoid cyst and calcification of the reflected tendon of the superior oblique muscle, trochlea, and underlying sclera, with downward and lateral globe displacement. Discussion Tessier 10 clefts are very rare and usually associated with encephalocele. Bilateral 10 clefts have not been reported previously. In this case, there was coexisting unilateral morning glory anomaly and arachnoid cyst of the left middle cranial fossa but no encephalocele. Conclusions Bilateral Tessier facial cleft 10 may be associated with alopecia, morning glory anomaly, epibulbar dermoids, arachnoid cyst, and restrictive strabismus. PMID:20856062

  14. Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes

    PubMed Central

    de Vries, Tamar I; R Monroe, Glen; van Belzen, Martine J; van der Lans, Christian A; Savelberg, Sanne MC; Newman, William G; van Haaften, Gijs; Nievelstein, Rutger A; van Haelst, Mieke M

    2016-01-01

    Rubinstein–Taybi syndrome (RTS, OMIM 180849) and Filippi syndrome (FLPIS, OMIM 272440) are both rare syndromes, with multiple congenital anomalies and intellectual deficit (MCA/ID). We present a patient with intellectual deficit, short stature, bilateral syndactyly of hands and feet, broad thumbs, ocular abnormalities, and dysmorphic facial features. These clinical features suggest both RTS and FLPIS. Initial DNA analysis of DNA isolated from blood did not identify variants to confirm either of these syndrome diagnoses. Whole-exome sequencing identified a homozygous variant in C9orf173, which was novel at the time of analysis. Further Sanger sequencing analysis of FLPIS cases tested negative for CKAP2L variants did not, however, reveal any further variants. Subsequent analysis using DNA isolated from buccal mucosa revealed a mosaic variant in CREBBP. This report highlights the importance of excluding mosaic variants in patients with a strong but atypical clinical presentation of a MCA/ID syndrome if no disease-causing variants can be detected in DNA isolated from blood samples. As the striking syndactyly observed in the present case is typical for FLPIS, we suggest CREBBP analysis in saliva samples for FLPIS syndrome cases in which no causal CKAP2L variant is detected. PMID:26956253

  15. Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

    PubMed

    de Vries, Tamar I; Monroe, Glen R; van Belzen, Martine J; van der Lans, Christian A; Savelberg, Sanne Mc; Newman, William G; van Haaften, Gijs; Nievelstein, Rutger A; van Haelst, Mieke M

    2016-08-01

    Rubinstein-Taybi syndrome (RTS, OMIM 180849) and Filippi syndrome (FLPIS, OMIM 272440) are both rare syndromes, with multiple congenital anomalies and intellectual deficit (MCA/ID). We present a patient with intellectual deficit, short stature, bilateral syndactyly of hands and feet, broad thumbs, ocular abnormalities, and dysmorphic facial features. These clinical features suggest both RTS and FLPIS. Initial DNA analysis of DNA isolated from blood did not identify variants to confirm either of these syndrome diagnoses. Whole-exome sequencing identified a homozygous variant in C9orf173, which was novel at the time of analysis. Further Sanger sequencing analysis of FLPIS cases tested negative for CKAP2L variants did not, however, reveal any further variants. Subsequent analysis using DNA isolated from buccal mucosa revealed a mosaic variant in CREBBP. This report highlights the importance of excluding mosaic variants in patients with a strong but atypical clinical presentation of a MCA/ID syndrome if no disease-causing variants can be detected in DNA isolated from blood samples. As the striking syndactyly observed in the present case is typical for FLPIS, we suggest CREBBP analysis in saliva samples for FLPIS syndrome cases in which no causal CKAP2L variant is detected.

  16. Cone beam tomographic study of facial structures characteristics at rest and wide smile, and their correlation with the facial types.

    PubMed

    Martins, Luciana Flaquer; Vigorito, Julio Wilson

    2013-01-01

    To determine the characteristics of facial soft tissues at rest and wide smile, and their possible relation to the facial type. We analyzed a sample of forty-eight young female adults, aged between 19.10 and 40 years old, with a mean age of 30.9 years, who had balanced profile and passive lip seal. Cone beam computed tomographies were performed at rest and wide smile postures on the entire sample which was divided into three groups according to individual facial types. Soft tissue features analysis of the lips, nose, zygoma and chin were done in sagittal, axial and frontal axis tomographic views. No differences were observed in any of the facial type variables for the static analysis of facial structures at both rest and wide smile postures. Dynamic analysis showed that brachifacial types are more sensitive to movement, presenting greater sagittal lip contraction. However, the lip movement produced by this type of face results in a narrow smile, with smaller tooth exposure area when compared with other facial types. Findings pointed out that the position of the upper lip should be ahead of the lower lip, and the latter, ahead of the pogonion. It was also found that the facial type does not impact the positioning of these structures. Additionally, the use of cone beam computed tomography may be a valuable method to study craniofacial features.

  17. Spoofing detection on facial images recognition using LBP and GLCM combination

    NASA Astrophysics Data System (ADS)

    Sthevanie, F.; Ramadhani, K. N.

    2018-03-01

    The challenge for the facial based security system is how to detect facial image falsification such as facial image spoofing. Spoofing occurs when someone try to pretend as a registered user to obtain illegal access and gain advantage from the protected system. This research implements facial image spoofing detection method by analyzing image texture. The proposed method for texture analysis combines the Local Binary Pattern (LBP) and Gray Level Co-occurrence Matrix (GLCM) method. The experimental results show that spoofing detection using LBP and GLCM combination achieves high detection rate compared to that of using only LBP feature or GLCM feature.

  18. Hysteroscopic outpatient metroplasty to expand dysmorphic uteri (HOME-DU technique): a pilot study.

    PubMed

    Di Spiezio Sardo, A; Florio, P; Nazzaro, G; Spinelli, M; Paladini, D; Di Carlo, C; Nappi, C

    2015-02-01

    The new classification system of uterine anomalies from the European Society of Human Reproduction and Embryology and the European Society for Gynaecological Endoscopy defines T-shaped and tubular-shaped infantilis uteri as 'dysmorphic'. Such malformations have been proven to be associated with poor reproductive performance. A prospective observational study was conducted with 30 infertile women with dysmorphic uterus who underwent the novel Hysteroscopic Outpatient Metroplasty to Expand Dysmorphic Uteri (HOME-DU ) technique. Incisions are made on the uterine walls with a 5 Fr bipolar electrode. The procedure was conducted in outpatients under conscious sedation, using a 5-mm office hysteroscope. The technique was successful in all cases without complications. A net increase of uterine volume was found, as measured at hysteroscopy and three-dimensional transvaginal ultrasound (P < 0.001). Uterine morphology improved in all patients but one. At mean follow-up of 15 months, clinical pregnancy rate was 57% and term delivery rate 65%. These early data support HOME-DU as safe and effective in expanding the volume and normalizing the appearance of the uterine cavity of dysmorphic uteri. Although the cohort was small, pregnancy and live births outcomes were favourable in this poor-prognosis group, implying desirable benefits, which should be compared with other techniques. Copyright © 2014 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

  19. Facial measurements for frame design.

    PubMed

    Tang, C Y; Tang, N; Stewart, M C

    1998-04-01

    Anthropometric data for the purpose of spectacle frame design are scarce in the literature. Definitions of facial features to be measured with existing systems of facial measurement are often not specific enough for frame design and manufacturing. Currently, for individual frame design, experienced personnel collect data with facial rules or instruments. A new measuring system is proposed, making use of a template in the form of a spectacle frame. Upon fitting the template onto a subject, most of the measuring references can be defined. Such a system can be administered by lesser-trained personnel and can be used for researches covering a larger population.

  20. Preoperative symptoms of body dysmorphic disorder determine postoperative satisfaction and quality of life in aesthetic rhinoplasty.

    PubMed

    Picavet, Valerie A; Gabriëls, Loes; Grietens, Jente; Jorissen, Mark; Prokopakis, Emmanuel P; Hellings, Peter W

    2013-04-01

    In patients seeking aesthetic rhinoplasty, a high prevalence of body dysmorphic disorder symptoms has recently been reported. However, the impact of these symptoms on the outcomes after rhinoplasty remains elusive. This large-scale study determines the influence of preoperative body dysmorphic disorder symptoms on patients' postoperative satisfaction and quality of life, using validated questionnaires. A 1-year prospective study of 166 adult patients undergoing cosmetic rhinoplasty in a tertiary referral center was performed. Severity of body dysmorphic disorder symptoms was assessed by the modified Yale-Brown Obsessive Compulsive Scale. Postoperative satisfaction was evaluated using a visual analog scale for patients' appraisal of nasal shape and the Rhinoplasty Outcome Evaluation. Generic quality of life was quantified by the Sheehan Disability Scale, whereas the appearance-related disruption of everyday life was measured by the Derriford Appearance Scale-59. Preoperative body dysmorphic disorder symptom scores inversely correlated with postoperative satisfaction at 3 months (visual analog scale nasal shape: rho = -0.43, p < 0.001; Rhinoplasty Outcome Evaluation: rho = -0.48, p < 0.001) and 12 months (rho = -0.40, p < 0.001; and rho = -0.41, p < 0.001, respectively) after surgery. In addition, body dysmorphic disorder symptom scores positively correlated with Sheehan Disability Scale scores and Derriford Appearance Scale-59 scores at 3 months (rho = 0.43, p < 0.001 and rho = 0.48, p < 0.001, respectively) and 12 months (rho = 0.32, p < 0.001, and rho = 0.48, p < 0.001, respectively) postoperatively. This study provides the first evidence of the negative impact of preoperative body dysmorphic disorder symptoms on subjective outcomes after rhinoplasty, hence unveiling a crucial factor in patient dissatisfaction after aesthetic rhinoplasty.

  1. Modular Cognitive-Behavioral Therapy for Body Dysmorphic Disorder

    ERIC Educational Resources Information Center

    Wilhelm, Sabine; Phillips, Katharine A.; Fama, Jeanne M.; Greenberg, Jennifer L.; Steketee, Gail

    2011-01-01

    This study pilot tested a newly developed modular cognitive-behavioral therapy (CBT) treatment manual for body dysmorphic disorder (BDD). We tested feasibility, acceptability, and treatment outcome in a sample of 12 adults with primary BDD. Treatment was delivered in weekly individual sessions over 18 or 22 weeks. Standardized clinician ratings…

  2. [Prevalence of depression and body dysmorphic disorder in patients before functional rhinosurgery].

    PubMed

    Bender, M; Rustige, L; Lindemann, J

    2014-11-01

    Psychiatric disorders are known to influence the result of many surgical procedures. Body dysmorphic disorder (BDD) is found in many patients undergoing plastic surgery. The prevalence before functional rhinosurgery has not been examined so far. The aim of this study was to determine the prevalence of depression and BDD before functional rhinosurgery. 201 patients were prospectively examined with a questionnaire before functional rhinosurgery. Beck-Depression-Index was used to rate depression, the PISA body dsymorphic symptom scale was used to evaluate the likelihood that a patient suffers from body dysmoprhic disorder. 186 patients returned a complete questionnaire. In 33.9% showed a mild or strong indication for a body dysmorphic disorder. Patients who were planned to undergo septorhinoplasty had a significantly higher scores in the PISA-scale compared to patients before septoplasty. 1.7% patients were depressive without a significant difference between the planned surgical procedure. Many patients before functional septorhinoplasty show signs of body dysmorphic disorder. Whether this influences the subjective clinical outcome needs to be evaluated in further studies. © Georg Thieme Verlag KG Stuttgart · New York.

  3. Facial Asymmetry-Based Age Group Estimation: Role in Recognizing Age-Separated Face Images.

    PubMed

    Sajid, Muhammad; Taj, Imtiaz Ahmad; Bajwa, Usama Ijaz; Ratyal, Naeem Iqbal

    2018-04-23

    Face recognition aims to establish the identity of a person based on facial characteristics. On the other hand, age group estimation is the automatic calculation of an individual's age range based on facial features. Recognizing age-separated face images is still a challenging research problem due to complex aging processes involving different types of facial tissues, skin, fat, muscles, and bones. Certain holistic and local facial features are used to recognize age-separated face images. However, most of the existing methods recognize face images without incorporating the knowledge learned from age group estimation. In this paper, we propose an age-assisted face recognition approach to handle aging variations. Inspired by the observation that facial asymmetry is an age-dependent intrinsic facial feature, we first use asymmetric facial dimensions to estimate the age group of a given face image. Deeply learned asymmetric facial features are then extracted for face recognition using a deep convolutional neural network (dCNN). Finally, we integrate the knowledge learned from the age group estimation into the face recognition algorithm using the same dCNN. This integration results in a significant improvement in the overall performance compared to using the face recognition algorithm alone. The experimental results on two large facial aging datasets, the MORPH and FERET sets, show that the proposed age group estimation based on the face recognition approach yields superior performance compared to some existing state-of-the-art methods. © 2018 American Academy of Forensic Sciences.

  4. Use of the S3 Corridor for Iliosacral Fixation in a Dysmorphic Sacrum: A Case Report.

    PubMed

    El Dafrawy, Mostafa H; Strike, Sophia A; Osgood, Greg M

    2017-01-01

    The S1 and S2 corridors are the typical osseous pathways for iliosacral screw fixation of posterior pelvic ring fractures. In dysmorphic sacra, the S1 screw trajectory is often different from that in normal sacra. We present a case of iliosacral screw placement in the third sacral segment for fixation of a complex lateral compression type-3 pelvic fracture in a patient with a dysmorphic sacrum. In patients with dysmorphic sacra and unstable posterior pelvic ring fractures or dislocations, the S3 corridor may be a feasible osseous fixation pathway that can be used in a manner equivalent to the S2 corridor in a normal sacrum.

  5. Similar PDK1-AKT-mTOR pathway activation in balloon cells and dysmorphic neurons of type II focal cortical dysplasia with refractory epilepsy.

    PubMed

    Lin, Yuan-xiang; Lin, Kun; Kang, De-zhi; Liu, Xin-xiu; Wang, Xing-fu; Zheng, Shu-fa; Yu, Liang-hong; Lin, Zhang-ya

    2015-05-01

    Dysmorphic neurons and balloon cells constitute the neuropathological hallmarks of type II focal cortical dysplasias (FCDs) with refractory epilepsy. The genesis of these cells may be critical to the histological findings in type II FCD. Recent work has shown enhanced activation of the mTOR cascade in both balloon cells and dysmorphic neurons, suggesting a common pathogenesis for these two neuropathological hallmarks. A direct comparative analysis of balloon cells and dysmorphic neurons might identify a molecular link between balloon cells and dysmorphic neurons. Here, we addressed whether PDK1-AKT-mTOR activation differentiates balloon cells from dysmorphic neurons. We used immunohistochemistry with antibodies against phosphorylated (p)-PDK1 (Ser241), p-AKT (Thr308), p-AKT (Ser473), p-mTOR (Ser2448), p-P70S6K (Thr229), and p-p70S6 kinase (Thr389) in balloon cells compared with dysmorphic neurons. Strong or moderate staining for components of the PDK1-AKT-mTOR signaling pathway was observed in both balloon cells and dysmorphic neurons. However, only a few pyramidal neurons displayed weak staining in control group (perilesional neocortex and histologically normal neocortex). Additionally, p-PDK1 (Ser241) and p-AKT (Thr308) staining in balloon cells were stronger than in dysmorphic neurons, whereas p-P70S6K (Thr229) and p-p70S6 kinase (Thr389) staining in balloon cells was weaker than in dysmorphic neurons. In balloon cells, p-AKT (Ser473) and p-mTOR (Ser2448) staining was comparable with the staining in dysmorphic neurons. Our data support the previously suggested pathogenic relationship between balloon cells and dysmorphic neurons concerning activation of the PDK1-AKT-mTOR, which may play important roles in the pathogenesis of type II FCD. Differential expression of some components of the PDK1-AKT-mTOR pathway between balloon cells and dysmorphic neurons may result from cell-specific gene expression. Copyright © 2015 Elsevier B.V. All rights reserved.

  6. Enhanced facial texture illumination normalization for face recognition.

    PubMed

    Luo, Yong; Guan, Ye-Peng

    2015-08-01

    An uncontrolled lighting condition is one of the most critical challenges for practical face recognition applications. An enhanced facial texture illumination normalization method is put forward to resolve this challenge. An adaptive relighting algorithm is developed to improve the brightness uniformity of face images. Facial texture is extracted by using an illumination estimation difference algorithm. An anisotropic histogram-stretching algorithm is proposed to minimize the intraclass distance of facial skin and maximize the dynamic range of facial texture distribution. Compared with the existing methods, the proposed method can more effectively eliminate the redundant information of facial skin and illumination. Extensive experiments show that the proposed method has superior performance in normalizing illumination variation and enhancing facial texture features for illumination-insensitive face recognition.

  7. Quantitative analysis of facial paralysis using local binary patterns in biomedical videos.

    PubMed

    He, Shu; Soraghan, John J; O'Reilly, Brian F; Xing, Dongshan

    2009-07-01

    Facial paralysis is the loss of voluntary muscle movement of one side of the face. A quantitative, objective, and reliable assessment system would be an invaluable tool for clinicians treating patients with this condition. This paper presents a novel framework for objective measurement of facial paralysis. The motion information in the horizontal and vertical directions and the appearance features on the apex frames are extracted based on the local binary patterns (LBPs) on the temporal-spatial domain in each facial region. These features are temporally and spatially enhanced by the application of novel block processing schemes. A multiresolution extension of uniform LBP is proposed to efficiently combine the micropatterns and large-scale patterns into a feature vector. The symmetry of facial movements is measured by the resistor-average distance (RAD) between LBP features extracted from the two sides of the face. Support vector machine is applied to provide quantitative evaluation of facial paralysis based on the House-Brackmann (H-B) scale. The proposed method is validated by experiments with 197 subject videos, which demonstrates its accuracy and efficiency.

  8. Childhood Abuse and Neglect in Body Dysmorphic Disorder

    ERIC Educational Resources Information Center

    Didie, Elizabeth R.; Tortolani, Christina C.; Pope, Courtney G.; Menard, William; Fay, Christina; Phillips, Katharine A.

    2006-01-01

    Objective: No published studies have examined childhood abuse and neglect in body dysmorphic disorder (BDD). This study examined the prevalence and clinical correlates of abuse and neglect in individuals with this disorder. Methods: Seventy-five subjects (69.3% female, mean age = 35.4 +/- 12.0) with DSM-IV BDD completed the Childhood Trauma…

  9. Facial paralysis for the plastic surgeon.

    PubMed

    Kosins, Aaron M; Hurvitz, Keith A; Evans, Gregory Rd; Wirth, Garrett A

    2007-01-01

    Facial paralysis presents a significant and challenging reconstructive problem for plastic surgeons. An aesthetically pleasing and acceptable outcome requires not only good surgical skills and techniques, but also knowledge of facial nerve anatomy and an understanding of the causes of facial paralysis.The loss of the ability to move the face has both social and functional consequences for the patient. At the Facial Palsy Clinic in Edinburgh, Scotland, 22,954 patients were surveyed, and over 50% were found to have a considerable degree of psychological distress and social withdrawal as a consequence of their facial paralysis. Functionally, patients present with unilateral or bilateral loss of voluntary and nonvoluntary facial muscle movements. Signs and symptoms can include an asymmetric smile, synkinesis, epiphora or dry eye, abnormal blink, problems with speech articulation, drooling, hyperacusis, change in taste and facial pain.With respect to facial paralysis, surgeons tend to focus on the surgical, or 'hands-on', aspect. However, it is believed that an understanding of the disease process is equally (if not more) important to a successful surgical outcome. The purpose of the present review is to describe the anatomy and diagnostic patterns of the facial nerve, and the epidemiology and common causes of facial paralysis, including clinical features and diagnosis. Treatment options for paralysis are vast, and may include nerve decompression, facial reanimation surgery and botulinum toxin injection, but these are beyond the scope of the present paper.

  10. Facial paralysis for the plastic surgeon

    PubMed Central

    Kosins, Aaron M; Hurvitz, Keith A; Evans, Gregory RD; Wirth, Garrett A

    2007-01-01

    Facial paralysis presents a significant and challenging reconstructive problem for plastic surgeons. An aesthetically pleasing and acceptable outcome requires not only good surgical skills and techniques, but also knowledge of facial nerve anatomy and an understanding of the causes of facial paralysis. The loss of the ability to move the face has both social and functional consequences for the patient. At the Facial Palsy Clinic in Edinburgh, Scotland, 22,954 patients were surveyed, and over 50% were found to have a considerable degree of psychological distress and social withdrawal as a consequence of their facial paralysis. Functionally, patients present with unilateral or bilateral loss of voluntary and nonvoluntary facial muscle movements. Signs and symptoms can include an asymmetric smile, synkinesis, epiphora or dry eye, abnormal blink, problems with speech articulation, drooling, hyperacusis, change in taste and facial pain. With respect to facial paralysis, surgeons tend to focus on the surgical, or ‘hands-on’, aspect. However, it is believed that an understanding of the disease process is equally (if not more) important to a successful surgical outcome. The purpose of the present review is to describe the anatomy and diagnostic patterns of the facial nerve, and the epidemiology and common causes of facial paralysis, including clinical features and diagnosis. Treatment options for paralysis are vast, and may include nerve decompression, facial reanimation surgery and botulinum toxin injection, but these are beyond the scope of the present paper. PMID:19554190

  11. Principal component analysis for surface reflection components and structure in facial images and synthesis of facial images for various ages

    NASA Astrophysics Data System (ADS)

    Hirose, Misa; Toyota, Saori; Ojima, Nobutoshi; Ogawa-Ochiai, Keiko; Tsumura, Norimichi

    2017-08-01

    In this paper, principal component analysis is applied to the distribution of pigmentation, surface reflectance, and landmarks in whole facial images to obtain feature values. The relationship between the obtained feature vectors and the age of the face is then estimated by multiple regression analysis so that facial images can be modulated for woman aged 10-70. In a previous study, we analyzed only the distribution of pigmentation, and the reproduced images appeared to be younger than the apparent age of the initial images. We believe that this happened because we did not modulate the facial structures and detailed surfaces, such as wrinkles. By considering landmarks and surface reflectance over the entire face, we were able to analyze the variation in the distributions of facial structures and fine asperity, and pigmentation. As a result, our method is able to appropriately modulate the appearance of a face so that it appears to be the correct age.

  12. Body Dysmorphic Disorder: Easing the Distress of Distortion.

    ERIC Educational Resources Information Center

    Fore, Cynthia M.

    People who suffer from body dysmorphic disorder believe that their body is defected and that this defect makes them ugly. Their distorted body image can be precipitated by many internal and external factors and as a result of their imagined defect, these normal-appearing individuals exhibit self-defeating behaviors. The disorder can lead to the…

  13. Quantitative assessment of the facial features of a Mexican population dataset.

    PubMed

    Farrera, Arodi; García-Velasco, Maria; Villanueva, Maria

    2016-05-01

    The present study describes the morphological variation of a large database of facial photographs. The database comprises frontal (386 female, 764 males) and lateral (312 females, 666 males) images of Mexican individuals aged 14-69 years that were obtained under controlled conditions. We used geometric morphometric methods and multivariate statistics to describe the phenotypic variation within the dataset as well as the variation regarding sex and age groups. In addition, we explored the correlation between facial traits in both views. We found a spectrum of variation that encompasses broad and narrow faces. In frontal view, the latter is associated to a longer nose, a thinner upper lip, a shorter lower face and to a longer upper face, than individuals with broader faces. In lateral view, antero-posteriorly shortened faces are associated to a longer profile and to a shortened helix, than individuals with longer faces. Sexual dimorphism is found in all age groups except for individuals above 39 years old in lateral view. Likewise, age-related changes are significant for both sexes, except for females above 29 years old in both views. Finally, we observed that the pattern of covariation between views differs in males and females mainly in the thickness of the upper lip and the angle of the facial profile and the auricle. The results of this study could contribute to the forensic practices as a complement for the construction of biological profiles, for example, to improve facial reconstruction procedures. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  14. Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.

    PubMed

    Kutkowska-Kaźmierczak, Anna; Rydzanicz, Małgorzata; Chlebowski, Aleksander; Kłosowska-Kosicka, Kamila; Mika, Adriana; Gruchota, Jakub; Jurkiewicz, Elżbieta; Kowalewski, Cezary; Pollak, Agnieszka; Stradomska, Teresa Joanna; Kmieć, Tomasz; Jakubowski, Rafał; Gasperowicz, Piotr; Walczak, Anna; Śladowski, Dariusz; Jankowska-Steifer, Ewa; Korniszewski, Lech; Kosińska, Joanna; Obersztyn, Ewa; Nowak, Wieslaw; Śledziński, Tomasz; Dziembowski, Andrzej; Płoski, Rafał

    2018-06-01

    Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations in genes relevant both for epidermis and neural function. To identify the cause of a similar phenotype of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic features (IKSHD) observed in two unrelated paediatric probands without family history of disease. Whole exome sequencing was performed in both patients. The functional effect of prioritised variant in ELOVL1 (very-long-chain fatty acids (VLCFAs) elongase) was analysed by VLCFA profiling by gas chromatography-mass spectrometry in stably transfected HEK2932 cells and in cultured patient's fibroblasts. Probands shared novel heterozygous ELOVL1 p.Ser165Phe mutation (de novo in one family, while in the other family, father could not be tested). In transfected cells p.Ser165Phe: (1) reduced levels of FAs C24:0-C28:0 and C26:1 with the most pronounced effect for C26:0 (P=7.8×10 -6  vs HEK293 cells with wild type (wt) construct, no difference vs naïve HEK293) and (2) increased levels of C20:0 and C22:0 (P=6.3×10 -7 , P=1.2×10 -5 , for C20:0 and C22:0, respectively, comparison vs HEK293 cells with wt construct; P=2.2×10 -7 , P=1.9×10 -4 , respectively, comparison vs naïve HEK293). In skin fibroblasts, there was decrease of C26:1 (P=0.014), C28:0 (P=0.001) and increase of C20:0 (P=0.033) in the patient versus controls. There was a strong correlation (r=0.92, P=0.008) between the FAs profile of patient's fibroblasts and that of p.Ser165Phe transfected HEK293 cells. Serum levels of C20:0-C26:0 FAs were normal, but the C24:0/C22:0 ratio was decreased. The ELOVL1 p.Ser165Phe mutation is a likely cause of IKSHD. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  15. [Infantile facial paralysis: diagnostic and therapeutic features].

    PubMed

    Montalt, J; Barona, R; Comeche, C; Basterra, J

    2000-01-01

    This paper deals with a series of 11 cases of peripheral unilateral facial paralyses affecting children under 15 years. Following parameters are reviewed: age, sex, side immobilized, origin, morbid antecedents, clinical and neurophysiological explorations (electroneurography through magnetic stimulation) and the evolutive course of the cases. These items are assembled in 3 sketches in the article. Clinical assessment of face movility is more difficult as the patient is younger, nevertheless electroneurography was possible in the whole group. Clinical restoration was complete, excepting one complicated cholesteatomatous patient. Some aspects concerning the etiology, diagnostic explorations and management of each pediatric case are discussed.

  16. Utility of optical facial feature and arm movement tracking systems to enable text communication in critically ill patients who cannot otherwise communicate.

    PubMed

    Muthuswamy, M B; Thomas, B N; Williams, D; Dingley, J

    2014-09-01

    Patients recovering from critical illness especially those with critical illness related neuropathy, myopathy, or burns to face, arms and hands are often unable to communicate by writing, speech (due to tracheostomy) or lip reading. This may frustrate both patient and staff. Two low cost movement tracking systems based around a laptop webcam and a laser/optical gaming system sensor were utilised as control inputs for on-screen text creation software and both were evaluated as communication tools in volunteers. Two methods were used to control an on-screen cursor to create short sentences via an on-screen keyboard: (i) webcam-based facial feature tracking, (ii) arm movement tracking by laser/camera gaming sensor and modified software. 16 volunteers with simulated tracheostomy and bandaged arms to simulate communication via gross movements of a burned limb, communicated 3 standard messages using each system (total 48 per system) in random sequence. Ten and 13 minor typographical errors occurred with each system respectively, however all messages were comprehensible. Speed of sentence formation ranged from 58 to 120s with the facial feature tracking system, and 60-160s with the arm movement tracking system. The average speed of sentence formation was 81s (range 58-120) and 104s (range 60-160) for facial feature and arm tracking systems respectively, (P<0.001, 2-tailed independent sample t-test). Both devices may be potentially useful communication aids in patients in general and burns critical care units who cannot communicate by conventional means, due to the nature of their injuries. Copyright © 2014 Elsevier Ltd and ISBI. All rights reserved.

  17. Facial emotion perception impairments in schizophrenia patients with comorbid antisocial personality disorder.

    PubMed

    Tang, Dorothy Y Y; Liu, Amy C Y; Lui, Simon S Y; Lam, Bess Y H; Siu, Bonnie W M; Lee, Tatia M C; Cheung, Eric F C

    2016-02-28

    Impairment in facial emotion perception is believed to be associated with aggression. Schizophrenia patients with antisocial features are more impaired in facial emotion perception than their counterparts without these features. However, previous studies did not define the comorbidity of antisocial personality disorder (ASPD) using stringent criteria. We recruited 30 participants with dual diagnoses of ASPD and schizophrenia, 30 participants with schizophrenia and 30 controls. We employed the Facial Emotional Recognition paradigm to measure facial emotion perception, and administered a battery of neurocognitive tests. The Life History of Aggression scale was used. ANOVAs and ANCOVAs were conducted to examine group differences in facial emotion perception, and control for the effect of other neurocognitive dysfunctions on facial emotion perception. Correlational analyses were conducted to examine the association between facial emotion perception and aggression. Patients with dual diagnoses performed worst in facial emotion perception among the three groups. The group differences in facial emotion perception remained significant, even after other neurocognitive impairments were controlled for. Severity of aggression was correlated with impairment in perceiving negative-valenced facial emotions in patients with dual diagnoses. Our findings support the presence of facial emotion perception impairment and its association with aggression in schizophrenia patients with comorbid ASPD. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  18. Recent Advances in Face Lift to Achieve Facial Balance.

    PubMed

    Ilankovan, Velupillai

    2017-03-01

    Facial balance is achieved by correction of facial proportions and the facial contour. Ageing affects this balance in addition to other factors. We have strived to inform all the recent advances in providing this balance. The anatomy of ageing including various changed in clinical features are described. The procedures are explained on the basis of the upper, middle and lower face. Different face lift, neck lift procedures with innovative techniques are demonstrated. The aim is to provide an unoperated balanced facial proportion with zero complication.

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

    PubMed

    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.

  20. Facial Affect Recognition Using Regularized Discriminant Analysis-Based Algorithms

    NASA Astrophysics Data System (ADS)

    Lee, Chien-Cheng; Huang, Shin-Sheng; Shih, Cheng-Yuan

    2010-12-01

    This paper presents a novel and effective method for facial expression recognition including happiness, disgust, fear, anger, sadness, surprise, and neutral state. The proposed method utilizes a regularized discriminant analysis-based boosting algorithm (RDAB) with effective Gabor features to recognize the facial expressions. Entropy criterion is applied to select the effective Gabor feature which is a subset of informative and nonredundant Gabor features. The proposed RDAB algorithm uses RDA as a learner in the boosting algorithm. The RDA combines strengths of linear discriminant analysis (LDA) and quadratic discriminant analysis (QDA). It solves the small sample size and ill-posed problems suffered from QDA and LDA through a regularization technique. Additionally, this study uses the particle swarm optimization (PSO) algorithm to estimate optimal parameters in RDA. Experiment results demonstrate that our approach can accurately and robustly recognize facial expressions.

  1. Prevalence of Body Dysmorphic Disorder Among Patients Seeking Breast Reconstruction.

    PubMed

    Metcalfe, Drew B; Duggal, Claire S; Gabriel, Allen; Nahabedian, Maurice Y; Carlson, Grant W; Losken, Albert

    2014-07-01

    Body dysmorphic disorder (BDD) is characterized by a preoccupation with a slight or imagined defect in physical appearance. It has significant implications for patients who desire breast reconstruction, because patient satisfaction with the aesthetic outcome is a substantial contributor to the success of the procedure. The authors estimated the prevalence of BDD among women seeking breast reconstruction by surveying patients with the previously validated Dysmorphic Concerns Questionnaire (DCQ). One hundred eighty-eight women who presented for immediate or delayed breast reconstruction completed the DCQ anonymously, during initial consultation with a plastic surgeon. Two groups of respondents were identified: those who desired immediate reconstruction and those who planned to undergo delayed reconstruction. The prevalence of BDD among breast reconstruction patients was compared between the 2 groups, and the overall prevalence was compared with published rates for the general public. Body dysmorphic disorder was significantly more prevalent in breast reconstruction patients than in the general population (17% vs 2%; P < .001). It also was much more common among patients who planned to undergo delayed (vs immediate) reconstruction (34% vs 13%; P = .004). Relative to the general public, significantly more women who sought breast reconstruction were diagnosed as having BDD. Awareness of the potential for BDD will enable clinicians to better understand their patients' perspectives and discuss realistic expectations at the initial consultation. Future studies are warranted to examine the implications of BDD on patient satisfaction with reconstructive surgery. 3. © 2014 The American Society for Aesthetic Plastic Surgery, Inc.

  2. Objective grading of facial paralysis using Local Binary Patterns in video processing.

    PubMed

    He, Shu; Soraghan, John J; O'Reilly, Brian F

    2008-01-01

    This paper presents a novel framework for objective measurement of facial paralysis in biomedial videos. The motion information in the horizontal and vertical directions and the appearance features on the apex frames are extracted based on the Local Binary Patterns (LBP) on the temporal-spatial domain in each facial region. These features are temporally and spatially enhanced by the application of block schemes. A multi-resolution extension of uniform LBP is proposed to efficiently combine the micro-patterns and large-scale patterns into a feature vector, which increases the algorithmic robustness and reduces noise effects while still retaining computational simplicity. The symmetry of facial movements is measured by the Resistor-Average Distance (RAD) between LBP features extracted from the two sides of the face. Support Vector Machine (SVM) is applied to provide quantitative evaluation of facial paralysis based on the House-Brackmann (H-B) Scale. The proposed method is validated by experiments with 197 subject videos, which demonstrates its accuracy and efficiency.

  3. Discrimination of gender using facial image with expression change

    NASA Astrophysics Data System (ADS)

    Kuniyada, Jun; Fukuda, Takahiro; Terada, Kenji

    2005-12-01

    By carrying out marketing research, the managers of large-sized department stores or small convenience stores obtain the information such as ratio of men and women of visitors and an age group, and improve their management plan. However, these works are carried out in the manual operations, and it becomes a big burden to small stores. In this paper, the authors propose a method of men and women discrimination by extracting difference of the facial expression change from color facial images. Now, there are a lot of methods of the automatic recognition of the individual using a motion facial image or a still facial image in the field of image processing. However, it is very difficult to discriminate gender under the influence of the hairstyle and clothes, etc. Therefore, we propose the method which is not affected by personality such as size and position of facial parts by paying attention to a change of an expression. In this method, it is necessary to obtain two facial images with an expression and an expressionless. First, a region of facial surface and the regions of facial parts such as eyes, nose, and mouth are extracted in the facial image with color information of hue and saturation in HSV color system and emphasized edge information. Next, the features are extracted by calculating the rate of the change of each facial part generated by an expression change. In the last step, the values of those features are compared between the input data and the database, and the gender is discriminated. In this paper, it experimented for the laughing expression and smile expression, and good results were provided for discriminating gender.

  4. Multiple Mechanisms in the Perception of Face Gender: Effect of Sex-Irrelevant Features

    ERIC Educational Resources Information Center

    Komori, Masashi; Kawamura, Satoru; Ishihara, Shigekazu

    2011-01-01

    Effects of sex-relevant and sex-irrelevant facial features on the evaluation of facial gender were investigated. Participants rated masculinity of 48 male facial photographs and femininity of 48 female facial photographs. Eighty feature points were measured on each of the facial photographs. Using a generalized Procrustes analysis, facial shapes…

  5. Dysfunctional Metacognitive Beliefs in Body Dysmorphic Disorder

    PubMed Central

    Zeinodini, Zahra; Sedighi, Sahar; Rahimi, Mandana Baghertork; Noorbakhsh, Simasadat; Esfahani, Sepideh Rajezi

    2016-01-01

    The present study aims to examine the correlation of body dysmorphic disorder, with metacognitive subscales, metaworry and thought-fusion. The study was conducted in a correlation framework. Sample included 155 high school students in Isfahan, Iran in 2013-2014, gathered through convenience sampling. To gather data about BDD, Yale-Brown Obsessive Compulsive Scale Modified for BDD was applied. Then, Meta Cognitive Questionnaire, Metaworry Questionnaire, and Thought-Fusion Inventory were used to assess metacognitive subscales, metaworry and thought-fusion. Data obtained from this study were analyzed using Pearson correlation and multiple regressions in SPSS 18. Result indicated YBOCS-BDD scores had a significant correlation with scores from MCQ (P<0.05), MWG (P<0.05), and TFI (P<0.05). Also, multiple regressions were run to predict YBOCS from TFI, MWQ, and MCQ-30. These variables significantly predicted YBOCS [F (3,151) =32.393, R2=0.57]. Findings indicated that body dysmorphic disorder was significantly related to metacognitive subscales, metaworry, and thought fusion in high school students in Isfahan, which is in line with previous studies. A deeper understanding of these processes can broaden theory and treatment of BDD, thereby improve the lives of sufferers and potentially protect others from developing this devastating disorder. PMID:26493420

  6. Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.

    PubMed

    Maini, I; Ivanovski, I; Djuric, O; Caraffi, S G; Errichiello, E; Marinelli, M; Franchi, F; Bizzarri, V; Rosato, S; Pollazzon, M; Gelmini, C; Malacarne, M; Fusco, C; Gargano, G; Bernasconi, S; Zuffardi, O; Garavelli, L

    2018-03-09

    Since 2010, array-CGH (aCGH) has been the first-tier test in the diagnostic approach of children with neurodevelopmental disorders (NDD) or multiple congenital anomalies (MCA) of unknown origin. Its broad application led to the detection of numerous variants of uncertain clinical significance (VOUS). How to appropriately interpret aCGH results represents a challenge for the clinician. We present a retrospective study on 293 patients with age range 1 month - 29 years (median 7 years) with NDD and/or MCA and/or dysmorphisms, investigated through aCGH between 2005 and 2016. The aim of the study was to analyze clinical and molecular cytogenetic data in order to identify what elements could be useful to interpret unknown or poorly described aberrations. Comparison of phenotype and cytogenetic characteristics through univariate analysis and multivariate logistic regression was performed. Copy number variations (CNVs) with a frequency < 1% were detected in 225 patients of the total sample, while 68 patients presented only variants with higher frequency (heterozygous deletions or amplification) and were considered to have negative aCGH. Proved pathogenic CNVs were detected in 70 patients (20.6%). Delayed psychomotor development, intellectual disability, intrauterine growth retardation (IUGR), prematurity, congenital heart disease, cerebral malformations and dysmorphisms correlated to reported pathogenic CNVs. Prematurity, ventricular septal defect and dysmorphisms remained significant predictors of pathogenic CNVs in the multivariate logistic model whereas abnormal EEG and limb dysmorphisms were mainly detected in the group with likely pathogenic VOUS. A flow-chart regarding the care for patients with NDD and/or MCA and/or dysmorphisms and the interpretation of aCGH has been made on the basis of the data inferred from this study and literature. Our work contributes to make the investigative process of CNVs more informative and suggests possible directions in a

  7. Analysis of differences between Western and East-Asian faces based on facial region segmentation and PCA for facial expression recognition

    NASA Astrophysics Data System (ADS)

    Benitez-Garcia, Gibran; Nakamura, Tomoaki; Kaneko, Masahide

    2017-01-01

    Darwin was the first one to assert that facial expressions are innate and universal, which are recognized across all cultures. However, recent some cross-cultural studies have questioned this assumed universality. Therefore, this paper presents an analysis of the differences between Western and East-Asian faces of the six basic expressions (anger, disgust, fear, happiness, sadness and surprise) focused on three individual facial regions of eyes-eyebrows, nose and mouth. The analysis is conducted by applying PCA for two feature extraction methods: appearance-based by using the pixel intensities of facial parts, and geometric-based by handling 125 feature points from the face. Both methods are evaluated using 4 standard databases for both racial groups and the results are compared with a cross-cultural human study applied to 20 participants. Our analysis reveals that differences between Westerns and East-Asians exist mainly on the regions of eyes-eyebrows and mouth for expressions of fear and disgust respectively. This work presents important findings for a better design of automatic facial expression recognition systems based on the difference between two racial groups.

  8. Functional connectivity between amygdala and facial regions involved in recognition of facial threat

    PubMed Central

    Harada, Tokiko; Ruffman, Ted; Sadato, Norihiro; Iidaka, Tetsuya

    2013-01-01

    The recognition of threatening faces is important for making social judgments. For example, threatening facial features of defendants could affect the decisions of jurors during a trial. Previous neuroimaging studies using faces of members of the general public have identified a pivotal role of the amygdala in perceiving threat. This functional magnetic resonance imaging study used face photographs of male prisoners who had been convicted of first-degree murder (MUR) as threatening facial stimuli. We compared the subjective ratings of MUR faces with those of control (CON) faces and examined how they were related to brain activation, particularly, the modulation of the functional connectivity between the amygdala and other brain regions. The MUR faces were perceived to be more threatening than the CON faces. The bilateral amygdala was shown to respond to both MUR and CON faces, but subtraction analysis revealed no significant difference between the two. Functional connectivity analysis indicated that the extent of connectivity between the left amygdala and the face-related regions (i.e. the superior temporal sulcus, inferior temporal gyrus and fusiform gyrus) was correlated with the subjective threat rating for the faces. We have demonstrated that the functional connectivity is modulated by vigilance for threatening facial features. PMID:22156740

  9. Cognitive-Behavioral Body Image Therapy for Body Dysmorphic Disorder.

    ERIC Educational Resources Information Center

    Rosen, James C.; And Others

    1995-01-01

    Randomly assigned 54 body dysmorphic disorder (BDD) subjects to cognitive behavior therapy or no treatment. BDD symptoms were significantly decreased in therapy subjects and the disorder was eliminated in 82 percent of cases at posttreatment and 77 percent at follow-up. Subjects' overall psychological symptoms and self-esteem also improved. (RJM)

  10. Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms.

    PubMed

    Kim, Yoon-Myung; Choi, In-Hee; Kim, Jun Suk; Kim, Ja Hye; Cho, Ja Hyang; Lee, Beom Hee; Kim, Gu-Hwan; Choi, Jin-Ho; Seo, Eul-Ju; Yoo, Han-Wook

    2016-11-01

    Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays. Several putative genes such as the SHANK3 , RAB , RABL2B , and IB2 are responsible for the neurological features. This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis. Brain magnetic resonance imaging of Patients 1 and 2 showed delayed myelination and severe communicating hydrocephalus, respectively. Electroencephalography in patient 2 showed high amplitude spike discharges from the left frontotemporoparietal area, but neither patient developed seizures. Kidney ultrasonography of both the patients revealed multicystic kidney disease and pelviectasis, respectively. Patient 2 experienced recurrent respiratory infections, and chest computed tomography findings demonstrated laryngotracheomalacia and bronchial narrowing. He subsequently died because of heart failure after a ventriculoperitoneal shunt operation at 5 months of age. Patient 1, who is currently 20 months old, has been undergoing rehabilitation therapy. However, global developmental delay was noted, as determines using the Korean Infant and Child Development test, the Denver developmental test, and the Bayley developmental test. This report describes the clinical features, outcomes, and molecular genetic characteristics of two Korean patients with Phelan-McDermid syndrome.

  11. Facial Redness Increases Men's Perceived Healthiness and Attractiveness.

    PubMed

    Thorstenson, Christopher A; Pazda, Adam D; Elliot, Andrew J; Perrett, David I

    2017-06-01

    Past research has shown that peripheral and facial redness influences perceptions of attractiveness for men viewing women. The current research investigated whether a parallel effect is present when women rate men with varying facial redness. In four experiments, women judged the attractiveness of men's faces, which were presented with varying degrees of redness. We also examined perceived healthiness and other candidate variables as mediators of the red-attractiveness effect. The results show that facial redness positively influences ratings of men's attractiveness. Additionally, perceived healthiness was documented as a mediator of this effect, independent of other potential mediator variables. The current research emphasizes facial coloration as an important feature of social judgments.

  12. Facial Identity and Self-Perception: An Examination of Psychosocial Outcomes in Cosmetic Surgery Patients.

    PubMed

    Slavin, Benjamin; Beer, Jacob

    2017-06-01

    The psychosocial health of patients undergoing cosmetic procedures has often been linked to a host of pre-existing conditions, including the type of procedure being performed. Age, gender, and the psychological state of the patients also contribute to the perceived outcome. Specifically, the presence or absence of Body Dysmorphic Disorder (BDD) has been identified as an independent marker for unhappiness following cosmetic procedures.1 However, no study has, to our knowledge, identified a more precise indicator that is associated with higher rates of patient dissatisfaction from cosmetic procedure. This review identifies facial identity and self-perception as potential identifiers of future patient dissatisfaction with cosmetic procedures. Specifically, we believe that patients with a realistic facial identity and self-perception are more likely to be satisfied than those whose self-perceptions are distorted. Patients undergoing restorative procedures, including blepharoplasty, rhytidectomy, and liposuction, are more likely to have an increased outcome favorability rating than those undergoing type change procedures, such as rhinoplasty and breast augmentation. Age, which typically is an independent variable for satisfaction, tends to be associated with increased favorability ratings following cosmetic procedures. Female gender is a second variable associated with higher satisfaction. The authors believe that negative facial identity and self-perception are risk factors for patient dissatisfaction with cosmetic procedural outcomes. Based on this assumption, clinicians may want to focus on the face as a particular area of psychosocial concern.

    J Drugs Dermatol. 2017;16(6):617-620.

    .

  13. Cognitive-Behavioral Therapy for Youth with Body Dysmorphic Disorder: Current Status and Future Directions

    PubMed Central

    Phillips, Katharine A.; Rogers, Jamison

    2011-01-01

    SYNOPSIS Body dysmorphic disorder (BDD), a distressing or impairing preoccupation with nonexistent or slight defect(s) in appearance, usually begins during early adolescence and appears to be common in youth. BDD is characterized by substantial impairment in psychosocial functioning and markedly high rates of suicidality. Cognitive-behavioral therapy (CBT) tailored to BDD’s unique features is the best tested and most promising psychosocial treatment for adults with BDD. CBT has been used for youth with BDD, but it has not been systematically developed for or tested in this age group, and there is a pressing need for this work to be done. This article focuses on CBT for BDD in adults and youth, possible adaptations for youth, and the need for treatment research in youth. We also discuss BDD’s prevalence, clinical features, how to diagnose BDD in youth, recommended pharmacotherapy for BDD (serotonin-reuptake inhibitors), and treatments that are not recommended (surgery and other cosmetic treatments). PMID:21440856

  14. Social-evaluative versus self-evaluative appearance concerns in Body Dysmorphic Disorder.

    PubMed

    Anson, Martin; Veale, David; de Silva, Padmal

    2012-12-01

    Body Dysmorphic Disorder (BDD) is characterised by significant preoccupation and distress relating to an imagined or slight defect in appearance. Individuals with BDD frequently report marked concerns relating to perceived negative evaluation of their appearance by others, but research specifically investigating such concerns remains limited. This study investigated the extent and nature of appearance-related social-evaluative and self-evaluative concerns in individuals with BDD and healthy controls. BDD participants, in comparison to controls, reported high levels of importance and anxiety associated with perceptions of others' views of their appearance, in addition to their own view. No differences were observed in the level of importance and anxiety associated with their self-view in comparison to others' views. These findings support existing evidence indicating that appearance-related social-evaluative concerns are a central feature of BDD. Cognitive-behavioural treatment implications are discussed. Copyright © 2012 Elsevier Ltd. All rights reserved.

  15. Discrimination of emotional facial expressions by tufted capuchin monkeys (Sapajus apella).

    PubMed

    Calcutt, Sarah E; Rubin, Taylor L; Pokorny, Jennifer J; de Waal, Frans B M

    2017-02-01

    Tufted or brown capuchin monkeys (Sapajus apella) have been shown to recognize conspecific faces as well as categorize them according to group membership. Little is known, though, about their capacity to differentiate between emotionally charged facial expressions or whether facial expressions are processed as a collection of features or configurally (i.e., as a whole). In 3 experiments, we examined whether tufted capuchins (a) differentiate photographs of neutral faces from either affiliative or agonistic expressions, (b) use relevant facial features to make such choices or view the expression as a whole, and (c) demonstrate an inversion effect for facial expressions suggestive of configural processing. Using an oddity paradigm presented on a computer touchscreen, we collected data from 9 adult and subadult monkeys. Subjects discriminated between emotional and neutral expressions with an exceptionally high success rate, including differentiating open-mouth threats from neutral expressions even when the latter contained varying degrees of visible teeth and mouth opening. They also showed an inversion effect for facial expressions, results that may indicate that quickly recognizing expressions does not originate solely from feature-based processing but likely a combination of relational processes. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

  16. Greater perceptual sensitivity to happy facial expression.

    PubMed

    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).

  17. Human Facial Shape and Size Heritability and Genetic Correlations.

    PubMed

    Cole, Joanne B; Manyama, Mange; Larson, Jacinda R; Liberton, Denise K; Ferrara, Tracey M; Riccardi, Sheri L; Li, Mao; Mio, Washington; Klein, Ophir D; Santorico, Stephanie A; Hallgrímsson, Benedikt; Spritz, Richard A

    2017-02-01

    The human face is an array of variable physical features that together make each of us unique and distinguishable. Striking familial facial similarities underscore a genetic component, but little is known of the genes that underlie facial shape differences. Numerous studies have estimated facial shape heritability using various methods. Here, we used advanced three-dimensional imaging technology and quantitative human genetics analysis to estimate narrow-sense heritability, heritability explained by common genetic variation, and pairwise genetic correlations of 38 measures of facial shape and size in normal African Bantu children from Tanzania. Specifically, we fit a linear mixed model of genetic relatedness between close and distant relatives to jointly estimate variance components that correspond to heritability explained by genome-wide common genetic variation and variance explained by uncaptured genetic variation, the sum representing total narrow-sense heritability. Our significant estimates for narrow-sense heritability of specific facial traits range from 28 to 67%, with horizontal measures being slightly more heritable than vertical or depth measures. Furthermore, for over half of facial traits, >90% of narrow-sense heritability can be explained by common genetic variation. We also find high absolute genetic correlation between most traits, indicating large overlap in underlying genetic loci. Not surprisingly, traits measured in the same physical orientation (i.e., both horizontal or both vertical) have high positive genetic correlations, whereas traits in opposite orientations have high negative correlations. The complex genetic architecture of facial shape informs our understanding of the intricate relationships among different facial features as well as overall facial development. Copyright © 2017 by the Genetics Society of America.

  18. Integration of internal and external facial features in 8- to 10-year-old children and adults.

    PubMed

    Meinhardt-Injac, Bozana; Persike, Malte; Meinhardt, Günter

    2014-06-01

    Investigation of whole-part and composite effects in 4- to 6-year-old children gave rise to claims that face perception is fully mature within the first decade of life (Crookes & McKone, 2009). However, only internal features were tested, and the role of external features was not addressed, although external features are highly relevant for holistic face perception (Sinha & Poggio, 1996; Axelrod & Yovel, 2010, 2011). In this study, 8- to 10-year-old children and adults performed a same-different matching task with faces and watches. In this task participants attended to either internal or external features. Holistic face perception was tested using a congruency paradigm, in which face and non-face stimuli either agreed or disagreed in both features (congruent contexts) or just in the attended ones (incongruent contexts). In both age groups, pronounced context congruency and inversion effects were found for faces, but not for watches. These findings indicate holistic feature integration for faces. While inversion effects were highly similar in both age groups, context congruency effects were stronger for children. Moreover, children's face matching performance was generally better when attending to external compared to internal features. Adults tended to perform better when attending to internal features. Our results indicate that both adults and 8- to 10-year-old children integrate external and internal facial features into holistic face representations. However, in children's face representations external features are much more relevant. These findings suggest that face perception is holistic but still not adult-like at the end of the first decade of life. Copyright © 2014 Elsevier B.V. All rights reserved.

  19. Aberrant patterns of visual facial information usage in schizophrenia.

    PubMed

    Clark, Cameron M; Gosselin, Frédéric; Goghari, Vina M

    2013-05-01

    Deficits in facial emotion perception have been linked to poorer functional outcome in schizophrenia. However, the relationship between abnormal emotion perception and functional outcome remains poorly understood. To better understand the nature of facial emotion perception deficits in schizophrenia, we used the Bubbles Facial Emotion Perception Task to identify differences in usage of visual facial information in schizophrenia patients (n = 20) and controls (n = 20), when differentiating between angry and neutral facial expressions. As hypothesized, schizophrenia patients required more facial information than controls to accurately differentiate between angry and neutral facial expressions, and they relied on different facial features and spatial frequencies to differentiate these facial expressions. Specifically, schizophrenia patients underutilized the eye regions, overutilized the nose and mouth regions, and virtually ignored information presented at the lowest levels of spatial frequency. In addition, a post hoc one-tailed t test revealed a positive relationship of moderate strength between the degree of divergence from "normal" visual facial information usage in the eye region and lower overall social functioning. These findings provide direct support for aberrant patterns of visual facial information usage in schizophrenia in differentiating between socially salient emotional states. © 2013 American Psychological Association

  20. Looking like a criminal: stereotypical black facial features promote face source memory error.

    PubMed

    Kleider, Heather M; Cavrak, Sarah E; Knuycky, Leslie R

    2012-11-01

    The present studies tested whether African American face type (stereotypical or nonstereotypical) facilitated stereotype-consistent categorization, and whether that categorization influenced memory accuracy and errors. Previous studies have shown that stereotypically Black features are associated with crime and violence (e.g., Blair, Judd, & Chapleau Psychological Science 15:674-679, 2004; Blair, Judd, & Fallman Journal of Personality and Social Psychology 87:763-778, 2004; Blair, Judd, Sadler, & Jenkins Journal of Personality and Social Psychology 83:5-252002); here, we extended this finding to investigate whether there is a bias toward remembering and recategorizing stereotypical faces as criminals. Using category labels, consistent (or inconsistent) with race-based expectations, we tested whether face recognition and recategorization were driven by the similarity between a target's facial features and a stereotyped category (i.e., stereotypical Black faces associated with crime/violence). The results revealed that stereotypical faces were associated more often with a stereotype-consistent label (Study 1), were remembered and correctly recategorized as criminals (Studies 2-4), and were miscategorized as criminals when memory failed. These effects occurred regardless of race or gender. Together, these findings suggest that face types have strong category associations that can promote stereotype-motivated recognition errors. Implications for eyewitness accuracy are discussed.

  1. How do people with body dysmorphic disorder view themselves? A thematic analysis.

    PubMed

    Silver, Joanna; Reavey, Paula; Anne Fineberg, Naomi

    2010-09-01

    Abstract Objectives. To examine the accounts of people with body dysmorphic disorder (BDD) and qualitatively explore self perceptions. Methods. Eleven people with BDD were interviewed using a semi-structured schedule. Participants brought photographs of themselves and drew a self-portrait. Transcribed interviews were analysed using a thematic analysis. Results. The most common theme was increased threat perception resulting in disordered interpersonal relationships. Other themes included the wish for regularity and symmetry in appearance, an idealised childhood self, the duty to look good, and a focus on specific "defective" features rather than general ugliness. Conclusions. Using thematic analysis and visual methods, we identified core themes that appear to characterise the way individuals with BDD perceive themselves and their interpersonal relationships. Thematic analysis offers promise as a tool to explore the overlap between BDD and other putatively related mental health problems.

  2. Current research on pycnodysostosis.

    PubMed

    Turan, Serap

    2014-08-01

    Pycnodysostosis is a rare autosomal recessive disorder caused by an inactivating mutation in cathepsin K (CTSK) and characterized by dysmorphic facial features, a short stature, acroosteolysis, osteosclerosis with increased bone fragility, and delayed closure of cranial sutures. Patients usually present with short stature or dysmorphic features the Pediatric Endocrinology or Genetics clinics, with atypical fractures to the orthopedics clinics or hematological abnormalities to the hematology clinics. However, under-diagnosis or misdiagnosis of this condition is a major issue. Pycnodysostosis is not a life threatening condition, but craniosynostosis, frequent fractures, respiratory-sleep problems, and dental problems may cause significant morbidity. Although no specific treatment for this disorder has been described, patients should be followed for complications and treated accordingly. A specific treatment for the disorder must be established in the future to prevent complications and improve quality of life for patients in the current era of advanced molecular research.

  3. Facial Attractiveness Assessment using Illustrated Questionnairers

    PubMed Central

    MESAROS, ANCA; CORNEA, DANIELA; CIOARA, LIVIU; DUDEA, DIANA; MESAROS, MICHAELA; BADEA, MINDRA

    2015-01-01

    Introduction. An attractive facial appearance is considered nowadays to be a decisive factor in establishing successful interactions between humans. In relation to this topic, scientific literature states that some of the facial features have more impact then others, and important authors revealed that certain proportions between different anthropometrical landmarks are mandatory for an attractive facial appearance. Aim. Our study aims to assess if certain facial features count differently in people’s opinion while assessing facial attractiveness in correlation with factors such as age, gender, specific training and culture. Material and methods. A 5-item multiple choice illustrated questionnaire was presented to 236 dental students. The Photoshop CS3 software was used in order to obtain the sets of images for the illustrated questions. The original image was handpicked from the internet by a panel of young dentists from a series of 15 pictures of people considered to have attractive faces. For each of the questions, the images presented were simulating deviations from the ideally symmetric and proportionate face. The sets of images consisted in multiple variations of deviations mixed with the original photo. Junior and sophomore year students from our dental medical school, having different nationalities were required to participate in our questionnaire. Simple descriptive statistics were used to interpret the data. Results. Assessing the results obtained from the questionnaire it was observed that a majority of students considered as unattractive the overdevelopment of the lower third, while the initial image with perfect symmetry and proportion was considered as the most attractive by only 38.9% of the subjects. Likewise, regarding the symmetry 36.86% considered unattractive the canting of the inter-commissural line. The interviewed subjects considered that for a face to be attractive it needs to have harmonious proportions between the different facial

  4. Difference of clinical phenotypes and immunological features of 22q11.2 deletion syndrome in north-eastern Thai children compare to western countries.

    PubMed

    Wichajam, Khunton; Kampan, Jureeporn

    2014-10-01

    22q11.2 deletion syndrome is a common microdeletion syndrome that affected various systems. To determine clinical phenotypes and immunologicalfeatures of 22q11.2 deletion syndrome in north-eastern Thai children compare to western countries. The authors described the clinical and immunological features in 20 north-eastern Thai children with 22q11.2 deletion syndrome that were followed-up at Srinagarind Hospital. Clinical phenotypes were facial dysmorphism (100%), congenital heart disease (80%) and cleft palate (30%). Prevalence of tetralogy of Fallot (TOF) in this syndrome was higher than in western. Serious infections were found including pneumonia, septicemia and brain abscess. Only a patient had panhypogammaglobulinemia and subsequently died. Selective IgA deficiency was not found. There was a twin patient conceivedfrom intracytoplasmic sperm injection (ICSI). TOF is more common in Asian patients than in western which different to selective IgA deficiency. The 22q11.2 deletion syndrome could be consequence from ICSI.

  5. A Cognitive-Behavioral Treatment Approach for Body Dysmorphic Disorder

    ERIC Educational Resources Information Center

    Wilhelm, Sabine; Buhlmann, Ulrike; Hayward, Laura C.; Greenberg, Jennifer L.; Dimaite, Ruta

    2010-01-01

    Although body dysmorphic disorder (BDD) has been described in the literature for more than a century, there has been only a limited focus on the development of cognitive behavioral treatments for BDD. Our case report provides a detailed description of a course of cognitive behavioral treatment (CBT) for an individual with BDD. The patient was…

  6. Prevalence of and associations between body dysmorphic concerns, obsessive beliefs and social anxiety.

    PubMed

    Barahmand, Usha; Shahbazi, Zeynab

    2015-03-01

    Physical attractiveness has been of concern in different cultures and at different times. Physical attractiveness can influence one's thoughts and actions, and concerns regarding body image can be destructive, giving rise to psychological problems. The purpose of the present study was to determine the prevalence of body dysmorphic concerns, related sex differences and comorbidity with social anxiety and obsessive beliefs. Using a stratified and cluster sampling procedure, 1,200 males and females were randomly selected. Self-report measures on body image, social anxiety and obsessive beliefs were distributed of which 843 completed questionnaires (54.9% males and 45.1% females) were returned (return rate of 70.25%). Therefore, data pertaining to 463 males and 380 females ranging in age from 17 to 20 years with a mean age of 18.12 years (SD = 1.06) were analyzed. Findings suggest a prevalence rate of 19.1% for body dysmorphic disorder, 23.6% for social anxiety and 8.8% for obsessive beliefs. Both social anxiety and obsessive beliefs were found to be comorbid with body dysmorphic concerns. The percentage of individuals reporting comorbid social anxiety (12.9%) was greater than that of those reporting comorbid obsessive beliefs (6.4%). Males with body dysmorphic concerns reported more obsessive beliefs (8.2% versus 4.1%), while their female counterparts reported more social anxiety (23.4% versus 4.2%). In males, body image concerns appear to be more cognitive in quality, while in females, body image concerns seem more emotional in tone. As the measures used do not yield formal diagnoses, findings should be viewed with caution. Copyright © 2013 Wiley Publishing Asia Pty Ltd.

  7. The impact of the stimulus features and task instructions on facial processing in social anxiety: an ERP investigation.

    PubMed

    Peschard, Virginie; Philippot, Pierre; Joassin, Frédéric; Rossignol, Mandy

    2013-04-01

    Social anxiety has been characterized by an attentional bias towards threatening faces. Electrophysiological studies have demonstrated modulations of cognitive processing from 100 ms after stimulus presentation. However, the impact of the stimulus features and task instructions on facial processing remains unclear. Event-related potentials were recorded while high and low socially anxious individuals performed an adapted Stroop paradigm that included a colour-naming task with non-emotional stimuli, an emotion-naming task (the explicit task) and a colour-naming task (the implicit task) on happy, angry and neutral faces. Whereas the impact of task factors was examined by contrasting an explicit and an implicit emotional task, the effects of perceptual changes on facial processing were explored by including upright and inverted faces. The findings showed an enhanced P1 in social anxiety during the three tasks, without a moderating effect of the type of task or stimulus. These results suggest a global modulation of attentional processing in performance situations. Copyright © 2013 Elsevier B.V. All rights reserved.

  8. Facial expression recognition based on improved local ternary pattern and stacked auto-encoder

    NASA Astrophysics Data System (ADS)

    Wu, Yao; Qiu, Weigen

    2017-08-01

    In order to enhance the robustness of facial expression recognition, we propose a method of facial expression recognition based on improved Local Ternary Pattern (LTP) combined with Stacked Auto-Encoder (SAE). This method uses the improved LTP extraction feature, and then uses the improved depth belief network as the detector and classifier to extract the LTP feature. The combination of LTP and improved deep belief network is realized in facial expression recognition. The recognition rate on CK+ databases has improved significantly.

  9. Atelosteogenesis type 2.

    PubMed Central

    Newbury-Ecob, R

    1998-01-01

    Atelosteogenesis type 2 (AO2) (MIM 256050) is a neonatally lethal chondrodysplasia characterised by severe limb shortening and deficient ossification of parts of the skeleton. Other features include facial dysmorphism, cleft palate, talipes, and abducted thumbs and toes. Phenotypic overlap with non-lethal diastrophic dysplasia (DTD) suggested a common aetiology and it has recently been confirmed that both syndromes result from mutations in the DTDST (diastrophic dysplasia sulphate transporter) gene. Images PMID:9475095

  10. Neurocognitive Functioning in Young Adults with Subclinical Body Dysmorphic Disorder.

    PubMed

    Blum, Austin W; Redden, Sarah A; Grant, Jon E

    2018-03-01

    Despite reasonable knowledge of body dysmorphic disorder (BDD), little is known of its cognitive antecedents. In this study, we evaluated executive functioning and decision-making in people at risk of developing BDD using neuropsychological tests. Participants were non-treatment seeking volunteers (18-29 years) recruited from the general community, and split into two groups: those "at risk" of developing BDD (N = 5) and controls (N = 82). Participants undertook the One-Touch Stockings of Cambridge, Cambridge Gamble and Spatial Working Memory tasks and were assessed with the Body Dysmorphic Disorder Questionnaire. Results showed that the at-risk subjects performed significantly worse on a measure of executive function, whereas measures of risk-seeking behavior, quality of decision-making, and spatial working memory were largely intact. The findings suggest that selective cognitive dysfunction may already be present in terms of executive functioning in those at risk of developing BDD, even before psychopathology arises.

  11. Evidence of a Shift from Featural to Configural Face Processing in Infancy

    ERIC Educational Resources Information Center

    Schwarzer, Gudrun; Zauner, Nicola; Jovanovic, Bianca

    2007-01-01

    Two experiments examined whether 4-, 6-, and 10-month-old infants process natural looking faces by feature, i.e. processing internal facial features independently of the facial context or holistically by processing the features in conjunction with the facial context. Infants were habituated to two faces and looking time was measured. After…

  12. Facial Expression Recognition using Multiclass Ensemble Least-Square Support Vector Machine

    NASA Astrophysics Data System (ADS)

    Lawi, Armin; Sya'Rani Machrizzandi, M.

    2018-03-01

    Facial expression is one of behavior characteristics of human-being. The use of biometrics technology system with facial expression characteristics makes it possible to recognize a person’s mood or emotion. The basic components of facial expression analysis system are face detection, face image extraction, facial classification and facial expressions recognition. This paper uses Principal Component Analysis (PCA) algorithm to extract facial features with expression parameters, i.e., happy, sad, neutral, angry, fear, and disgusted. Then Multiclass Ensemble Least-Squares Support Vector Machine (MELS-SVM) is used for the classification process of facial expression. The result of MELS-SVM model obtained from our 185 different expression images of 10 persons showed high accuracy level of 99.998% using RBF kernel.

  13. Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.

    PubMed

    Thauvin-Robinet, Christel; Franco, Brunella; Saugier-Veber, Pascale; Aral, Bernard; Gigot, Nadège; Donzel, Anne; Van Maldergem, Lionel; Bieth, Eric; Layet, Valérie; Mathieu, Michèle; Teebi, Ahmad; Lespinasse, James; Callier, Patrick; Mugneret, Francine; Masurel-Paulet, Alice; Gautier, Elodie; Huet, Frédéric; Teyssier, Jean-Raymond; Tosi, Mario; Frébourg, Thierry; Faivre, Laurence

    2009-02-01

    Oral-facial-digital type I syndrome (OFDI) is characterised by an X-linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, dental and distal abnormalities, polycystic kidney disease and central nervous system malformations. Considerable allelic heterogeneity has been reported within the OFD1 gene, but DNA bi-directional sequencing of the exons and intron-exon boundaries of the OFD1 gene remains negative in more than 20% of cases. We hypothesized that genomic rearrangements could account for the majority of the remaining undiagnosed cases. Thus, we took advantage of two independent available series of patients with OFDI syndrome and negative DNA bi-directional sequencing of the exons and intron-exon boundaries of the OFD1 gene from two different European labs: 13/36 cases from the French lab; 13/95 from the Italian lab. All patients were screened by a semiquantitative fluorescent multiplex method (QFMPSF) and relative quantification by real-time PCR (qPCR). Six OFD1 genomic deletions (exon 5, exons 1-8, exons 1-14, exons 10-11, exons 13-23 and exon 17) were identified, accounting for 5% of OFDI patients and for 23% of patients with negative mutation screening by DNA sequencing. The association of DNA direct sequencing, QFMPSF and qPCR detects OFD1 alteration in up to 85% of patients with a phenotype suggestive of OFDI syndrome. Given the average percentage of large genomic rearrangements (5%), we suggest that dosage methods should be performed in addition to DNA direct sequencing analysis to exclude the involvement of the OFD1 transcript when there are genetic counselling issues. (c) 2008 Wiley-Liss, Inc.

  14. Facial Scar Revision: Understanding Facial Scar Treatment

    MedlinePlus

    ... Contact Us Trust your face to a facial plastic surgeon Facial Scar Revision Understanding Facial Scar Treatment ... face like the eyes or lips. A facial plastic surgeon has many options for treating and improving ...

  15. Automated facial recognition of manually generated clay facial approximations: Potential application in unidentified persons data repositories.

    PubMed

    Parks, Connie L; Monson, Keith L

    2018-01-01

    This research examined how accurately 2D images (i.e., photographs) of 3D clay facial approximations were matched to corresponding photographs of the approximated individuals using an objective automated facial recognition system. Irrespective of search filter (i.e., blind, sex, or ancestry) or rank class (R 1 , R 10 , R 25 , and R 50 ) employed, few operationally informative results were observed. In only a single instance of 48 potential match opportunities was a clay approximation matched to a corresponding life photograph within the top 50 images (R 50 ) of a candidate list, even with relatively small gallery sizes created from the application of search filters (e.g., sex or ancestry search restrictions). Increasing the candidate lists to include the top 100 images (R 100 ) resulted in only two additional instances of correct match. Although other untested variables (e.g., approximation method, 2D photographic process, and practitioner skill level) may have impacted the observed results, this study suggests that 2D images of manually generated clay approximations are not readily matched to life photos by automated facial recognition systems. Further investigation is necessary in order to identify the underlying cause(s), if any, of the poor recognition results observed in this study (e.g., potential inferior facial feature detection and extraction). Additional inquiry exploring prospective remedial measures (e.g., stronger feature differentiation) is also warranted, particularly given the prominent use of clay approximations in unidentified persons casework. Copyright © 2017. Published by Elsevier B.V.

  16. Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia and skeletal abnormalities: a novel phenotype

    PubMed Central

    Shah, Hitesh; Bens, Susanne; Caliebe, Almuth; Graham, John M.; Girisha, Katta Mohan

    2012-01-01

    We report a fourteen year old adolescent girl with growth deficiency, microcephaly, intellectual disability, distinctive dysmorphic features (bulbous nose with wide nasal base, hypotelorism, deeply set eyes, protruding cupped ears and thick lips), cataract, pigmentary retinopathy, hypoplastic thorax, kyphoscoliosis and unusual skeletal changes but without chromosomal imbalances detected by array-CGH who probably represents a novel phenotype. PMID:22987502

  17. A quick eye to anger: An investigation of a differential effect of facial features in detecting angry and happy expressions.

    PubMed

    Lo, L Y; Cheng, M Y

    2017-06-01

    Detection of angry and happy faces is generally found to be easier and faster than that of faces expressing emotions other than anger or happiness. This can be explained by the threatening account and the feature account. Few empirical studies have explored the interaction between these two accounts which are seemingly, but not necessarily, mutually exclusive. The present studies hypothesised that prominent facial features are important in facilitating the detection process of both angry and happy expressions; yet the detection of happy faces was more facilitated by the prominent features than angry faces. Results confirmed the hypotheses and indicated that participants reacted faster to the emotional expressions with prominent features (in Study 1) and the detection of happy faces was more facilitated by the prominent feature than angry faces (in Study 2). The findings are compatible with evolutionary speculation which suggests that the angry expression is an alarming signal of potential threats to survival. Compared to the angry faces, the happy faces need more salient physical features to obtain a similar level of processing efficiency. © 2015 International Union of Psychological Science.

  18. Facial Contrast Is a Cross-Cultural Cue for Perceiving Age

    PubMed Central

    Porcheron, Aurélie; Mauger, Emmanuelle; Soppelsa, Frédérique; Liu, Yuli; Ge, Liezhong; Pascalis, Olivier; Russell, Richard; Morizot, Frédérique

    2017-01-01

    Age is a fundamental social dimension and a youthful appearance is of importance for many individuals, perhaps because it is a relevant predictor of aspects of health, facial attractiveness and general well-being. We recently showed that facial contrast—the color and luminance difference between facial features and the surrounding skin—is age-related and a cue to age perception of Caucasian women. Specifically, aspects of facial contrast decrease with age in Caucasian women, and Caucasian female faces with higher contrast look younger (Porcheron et al., 2013). Here we investigated faces of other ethnic groups and raters of other cultures to see whether facial contrast is a cross-cultural youth-related attribute. Using large sets of full face color photographs of Chinese, Latin American and black South African women aged 20–80, we measured the luminance and color contrast between the facial features (the eyes, the lips, and the brows) and the surrounding skin. Most aspects of facial contrast that were previously found to decrease with age in Caucasian women were also found to decrease with age in the other ethnic groups. Though the overall pattern of changes with age was common to all women, there were also some differences between the groups. In a separate study, individual faces of the 4 ethnic groups were perceived younger by French and Chinese participants when the aspects of facial contrast that vary with age in the majority of faces were artificially increased, but older when they were artificially decreased. Altogether these findings indicate that facial contrast is a cross-cultural cue to youthfulness. Because cosmetics were shown to enhance facial contrast, this work provides some support for the notion that a universal function of cosmetics is to make female faces look younger. PMID:28790941

  19. Facial Contrast Is a Cross-Cultural Cue for Perceiving Age.

    PubMed

    Porcheron, Aurélie; Mauger, Emmanuelle; Soppelsa, Frédérique; Liu, Yuli; Ge, Liezhong; Pascalis, Olivier; Russell, Richard; Morizot, Frédérique

    2017-01-01

    Age is a fundamental social dimension and a youthful appearance is of importance for many individuals, perhaps because it is a relevant predictor of aspects of health, facial attractiveness and general well-being. We recently showed that facial contrast-the color and luminance difference between facial features and the surrounding skin-is age-related and a cue to age perception of Caucasian women. Specifically, aspects of facial contrast decrease with age in Caucasian women, and Caucasian female faces with higher contrast look younger (Porcheron et al., 2013). Here we investigated faces of other ethnic groups and raters of other cultures to see whether facial contrast is a cross-cultural youth-related attribute. Using large sets of full face color photographs of Chinese, Latin American and black South African women aged 20-80, we measured the luminance and color contrast between the facial features (the eyes, the lips, and the brows) and the surrounding skin. Most aspects of facial contrast that were previously found to decrease with age in Caucasian women were also found to decrease with age in the other ethnic groups. Though the overall pattern of changes with age was common to all women, there were also some differences between the groups. In a separate study, individual faces of the 4 ethnic groups were perceived younger by French and Chinese participants when the aspects of facial contrast that vary with age in the majority of faces were artificially increased, but older when they were artificially decreased. Altogether these findings indicate that facial contrast is a cross-cultural cue to youthfulness. Because cosmetics were shown to enhance facial contrast, this work provides some support for the notion that a universal function of cosmetics is to make female faces look younger.

  20. Facial Expression Influences Face Identity Recognition During the Attentional Blink

    PubMed Central

    2014-01-01

    Emotional stimuli (e.g., negative facial expressions) enjoy prioritized memory access when task relevant, consistent with their ability to capture attention. Whether emotional expression also impacts on memory access when task-irrelevant is important for arbitrating between feature-based and object-based attentional capture. Here, the authors address this question in 3 experiments using an attentional blink task with face photographs as first and second target (T1, T2). They demonstrate reduced neutral T2 identity recognition after angry or happy T1 expression, compared to neutral T1, and this supports attentional capture by a task-irrelevant feature. Crucially, after neutral T1, T2 identity recognition was enhanced and not suppressed when T2 was angry—suggesting that attentional capture by this task-irrelevant feature may be object-based and not feature-based. As an unexpected finding, both angry and happy facial expressions suppress memory access for competing objects, but only angry facial expression enjoyed privileged memory access. This could imply that these 2 processes are relatively independent from one another. PMID:25286076

  1. Facial expression influences face identity recognition during the attentional blink.

    PubMed

    Bach, Dominik R; Schmidt-Daffy, Martin; Dolan, Raymond J

    2014-12-01

    Emotional stimuli (e.g., negative facial expressions) enjoy prioritized memory access when task relevant, consistent with their ability to capture attention. Whether emotional expression also impacts on memory access when task-irrelevant is important for arbitrating between feature-based and object-based attentional capture. Here, the authors address this question in 3 experiments using an attentional blink task with face photographs as first and second target (T1, T2). They demonstrate reduced neutral T2 identity recognition after angry or happy T1 expression, compared to neutral T1, and this supports attentional capture by a task-irrelevant feature. Crucially, after neutral T1, T2 identity recognition was enhanced and not suppressed when T2 was angry-suggesting that attentional capture by this task-irrelevant feature may be object-based and not feature-based. As an unexpected finding, both angry and happy facial expressions suppress memory access for competing objects, but only angry facial expression enjoyed privileged memory access. This could imply that these 2 processes are relatively independent from one another.

  2. Evidence for a genetic overlap between body dysmorphic concerns and obsessive-compulsive symptoms in an adult female community twin sample.

    PubMed

    Monzani, Benedetta; Rijsdijk, Fruhling; Iervolino, Alessandra C; Anson, Martin; Cherkas, Lynn; Mataix-Cols, David

    2012-06-01

    Body dysmorphic disorder (BDD) is thought to be etiologically related to obsessive-compulsive disorder (OCD) but the available evidence is incomplete. The current study examined the genetic and environmental sources of covariance between body dysmorphic and obsessive-compulsive symptoms in a community sample of adult twins. A total of 2,148 female twins (1,074 pairs) completed valid and reliable measures of body dysmorphic concerns and obsessive-compulsive symptoms. The data were analyzed using bivariate twin modeling methods and the statistical programme Mx. In the best-fitting model, the covariation between body dysmorphic and obsessive-compulsive traits was largely accounted for by genetic influences common to both phenotypes (64%; 95% CI: 0.50-0.80). This genetic overlap was even higher when specific obsessive-compulsive symptom dimensions were considered, with up to 82% of the phenotypic correlation between the obsessing and symmetry/ordering symptom dimensions and dysmorphic concerns being attributable to common genetic factors. Unique environmental factors, although influencing these traits individually, did not substantially contribute to their covariation. The results remained unchanged when excluding individuals reporting an objective medical condition/injury accounting for their concern in physical appearance. The association between body dysmorphic concerns and obsessive-compulsive symptoms is largely explained by shared genetic factors. Environmental risk factors were largely unique to each phenotype. These results support current recommendations to group BDD together with OCD in the same DSM-5 chapter, although comparison with other phenotypes such as somatoform disorders and social phobia is needed. Copyright © 2012 Wiley Periodicals, Inc.

  3. Facial Structure Predicts Sexual Orientation in Both Men and Women.

    PubMed

    Skorska, Malvina N; Geniole, Shawn N; Vrysen, Brandon M; McCormick, Cheryl M; Bogaert, Anthony F

    2015-07-01

    Biological models have typically framed sexual orientation in terms of effects of variation in fetal androgen signaling on sexual differentiation, although other biological models exist. Despite marked sex differences in facial structure, the relationship between sexual orientation and facial structure is understudied. A total of 52 lesbian women, 134 heterosexual women, 77 gay men, and 127 heterosexual men were recruited at a Canadian campus and various Canadian Pride and sexuality events. We found that facial structure differed depending on sexual orientation; substantial variation in sexual orientation was predicted using facial metrics computed by a facial modelling program from photographs of White faces. At the univariate level, lesbian and heterosexual women differed in 17 facial features (out of 63) and four were unique multivariate predictors in logistic regression. Gay and heterosexual men differed in 11 facial features at the univariate level, of which three were unique multivariate predictors. Some, but not all, of the facial metrics differed between the sexes. Lesbian women had noses that were more turned up (also more turned up in heterosexual men), mouths that were more puckered, smaller foreheads, and marginally more masculine face shapes (also in heterosexual men) than heterosexual women. Gay men had more convex cheeks, shorter noses (also in heterosexual women), and foreheads that were more tilted back relative to heterosexual men. Principal components analysis and discriminant functions analysis generally corroborated these results. The mechanisms underlying variation in craniofacial structure--both related and unrelated to sexual differentiation--may thus be important in understanding the development of sexual orientation.

  4. Validation of image analysis techniques to measure skin aging features from facial photographs.

    PubMed

    Hamer, M A; Jacobs, L C; Lall, J S; Wollstein, A; Hollestein, L M; Rae, A R; Gossage, K W; Hofman, A; Liu, F; Kayser, M; Nijsten, T; Gunn, D A

    2015-11-01

    Accurate measurement of the extent skin has aged is crucial for skin aging research. Image analysis offers a quick and consistent approach for quantifying skin aging features from photographs, but is prone to technical bias and requires proper validation. Facial photographs of 75 male and 75 female North-European participants, randomly selected from the Rotterdam Study, were graded by two physicians using photonumeric scales for wrinkles (full face, forehead, crow's feet, nasolabial fold and upper lip), pigmented spots and telangiectasia. Image analysis measurements of the same features were optimized using photonumeric grades from 50 participants, then compared to photonumeric grading in the 100 remaining participants stratified by sex. The inter-rater reliability of the photonumeric grades was good to excellent (intraclass correlation coefficients 0.65-0.93). Correlations between the digital measures and the photonumeric grading were moderate to excellent for all the wrinkle comparisons (Spearman's rho ρ = 0.52-0.89) bar the upper lip wrinkles in the men (fair, ρ = 0.30). Correlations were moderate to good for pigmented spots and telangiectasia (ρ = 0.60-0.75). These comparisons demonstrate that all the image analysis measures, bar the upper lip measure in the men, are suitable for use in skin aging research and highlight areas of improvement for future refinements of the techniques. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons.

  5. Proposal of Self-Learning and Recognition System of Facial Expression

    NASA Astrophysics Data System (ADS)

    Ogawa, Yukihiro; Kato, Kunihito; Yamamoto, Kazuhiko

    We describe realization of more complicated function by using the information acquired from some equipped unripe functions. The self-learning and recognition system of the human facial expression, which achieved under the natural relation between human and robot, are proposed. The robot with this system can understand human facial expressions and behave according to their facial expressions after the completion of learning process. The system modelled after the process that a baby learns his/her parents’ facial expressions. Equipping the robot with a camera the system can get face images and equipping the CdS sensors on the robot’s head the robot can get the information of human action. Using the information of these sensors, the robot can get feature of each facial expression. After self-learning is completed, when a person changed his facial expression in front of the robot, the robot operates actions under the relevant facial expression.

  6. Ethnic and Gender Considerations in the Use of Facial Injectables: Asian Patients.

    PubMed

    Liew, Steven

    2015-11-01

    Asians have distinct facial characteristics due to underlying skeletal and morphological features that differ greatly with those of whites. This together with the higher sun protection factor and the differences in the quality of the skin and soft tissue create a profound effect on their aging process. Understanding of these differences and their effects in the aging process in Asians is crucial in determining effective utilization and placement of injectable products to ensure optimal aesthetic outcomes. For younger Asian women, the main treatment goal is to address the inherent structural deficits through reshaping and the provision of facial support. Facial injectables are used to provide anterior projection, to reduce facial width, and to lengthen facial height. In the older group, the aim is for rejuvenation and also to address the underlying structural issues that has compounded due to age-related volume loss. Asian women requesting cosmetic procedures do not want to be Westernized but rather seeking to enhance and optimize their Asian ethnic features.

  7. Support vector machine-based facial-expression recognition method combining shape and appearance

    NASA Astrophysics Data System (ADS)

    Han, Eun Jung; Kang, Byung Jun; Park, Kang Ryoung; Lee, Sangyoun

    2010-11-01

    Facial expression recognition can be widely used for various applications, such as emotion-based human-machine interaction, intelligent robot interfaces, face recognition robust to expression variation, etc. Previous studies have been classified as either shape- or appearance-based recognition. The shape-based method has the disadvantage that the individual variance of facial feature points exists irrespective of similar expressions, which can cause a reduction of the recognition accuracy. The appearance-based method has a limitation in that the textural information of the face is very sensitive to variations in illumination. To overcome these problems, a new facial-expression recognition method is proposed, which combines both shape and appearance information, based on the support vector machine (SVM). This research is novel in the following three ways as compared to previous works. First, the facial feature points are automatically detected by using an active appearance model. From these, the shape-based recognition is performed by using the ratios between the facial feature points based on the facial-action coding system. Second, the SVM, which is trained to recognize the same and different expression classes, is proposed to combine two matching scores obtained from the shape- and appearance-based recognitions. Finally, a single SVM is trained to discriminate four different expressions, such as neutral, a smile, anger, and a scream. By determining the expression of the input facial image whose SVM output is at a minimum, the accuracy of the expression recognition is much enhanced. The experimental results showed that the recognition accuracy of the proposed method was better than previous researches and other fusion methods.

  8. FaceWarehouse: a 3D facial expression database for visual computing.

    PubMed

    Cao, Chen; Weng, Yanlin; Zhou, Shun; Tong, Yiying; Zhou, Kun

    2014-03-01

    We present FaceWarehouse, a database of 3D facial expressions for visual computing applications. We use Kinect, an off-the-shelf RGBD camera, to capture 150 individuals aged 7-80 from various ethnic backgrounds. For each person, we captured the RGBD data of her different expressions, including the neutral expression and 19 other expressions such as mouth-opening, smile, kiss, etc. For every RGBD raw data record, a set of facial feature points on the color image such as eye corners, mouth contour, and the nose tip are automatically localized, and manually adjusted if better accuracy is required. We then deform a template facial mesh to fit the depth data as closely as possible while matching the feature points on the color image to their corresponding points on the mesh. Starting from these fitted face meshes, we construct a set of individual-specific expression blendshapes for each person. These meshes with consistent topology are assembled as a rank-3 tensor to build a bilinear face model with two attributes: identity and expression. Compared with previous 3D facial databases, for every person in our database, there is a much richer matching collection of expressions, enabling depiction of most human facial actions. We demonstrate the potential of FaceWarehouse for visual computing with four applications: facial image manipulation, face component transfer, real-time performance-based facial image animation, and facial animation retargeting from video to image.

  9. Prevalence of Body Dysmorphic Disorder in Plastic Surgery and Dermatology Patients: A Systematic Review with Meta-Analysis.

    PubMed

    Ribeiro, Rafael Vilela Eiras

    2017-08-01

    The aim of the present study was to evaluate the prevalence of body dysmorphic disorder in plastic surgery and dermatology patients, by performing a systematic review of the literature and meta-analysis. The most relevant studies published originally in any language were analyzed. The literature search was performed using the PubMed, Cochrane Central Register of Controlled Trials (CENTRAL), and Scielo databases. The final sample comprised 33 publications that were submitted to meta-analysis. The study verified that 15.04% of plastic surgery patients had body dysmorphic disorder (range 2.21-56.67%); patient mean age was 34.54 ± 12.41 years, and most were women (74.38%). Among dermatology patients, 12.65% (range 4.52-35.16%) had body dysmorphic disorder; patient mean age was 27.79 ± 9.03 years, and most were women (76.09%). Both plastic surgeons and dermatologists must adequately assess their patients to identify those with a higher likelihood of body dysmorphic disorder and should arrange multidisciplinary care for such individuals. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

  10. Facial Paralysis in Patients With Hemifacial Microsomia: Frequency, Distribution, and Association With Other OMENS Abnormalities.

    PubMed

    Li, Qiang; Zhou, Xu; Wang, Yue; Qian, Jin; Zhang, Qingguo

    2018-05-15

    Although facial paralysis is a fundamental feature of hemifacial microsomia, the frequency and distribution of nerve abnormalities in patients with hemifacial microsomia remain unclear. In this study, the authors classified 1125 cases with microtia (including 339 patients with hemifacial microsomia and 786 with isolated microtia) according to Orbital Distortion Mandibular Hypoplasia Ear Anomaly Nerve Involvement Soft Tissue Dependency (OMENS) scheme. Then, the authors performed an independent analysis to describe the distribution feature of nerve abnormalities and reveal the possible relationships between facial paralysis and the other 4 fundamental features in the OMENS system. Results revealed that facial paralysis is present 23.9% of patients with hemifacial microsomia. The frontal-temporal branch is the most vulnerable branch in the total 1125 cases with microtia. The occurrence of facial paralysis is positively correlated with mandibular hypoplasia and soft tissue deficiency both in the total 1125 cases and the hemifacial microsomia patients. Orbital asymmetry is related to facial paralysis only in the total microtia cases, and ear deformity is related to facial paralysis only in hemifacial microsomia patients. No significant association was found between the severity of facial paralysis and any of the other 4 OMENS anomalies. These data suggest that the occurrence of facial paralysis may be associated with other OMENS abnormalities. The presence of serious mandibular hypoplasia or soft tissue deficiency should alert the clinician to a high possibility but not a high severity of facial paralysis.

  11. Facial palsy after dental procedures - Is viral reactivation responsible?

    PubMed

    Gaudin, Robert A; Remenschneider, Aaron K; Phillips, Katie; Knipfer, Christian; Smeets, Ralf; Heiland, Max; Hadlock, Tessa A

    2017-01-01

    Herpes labialis viral reactivation has been reported following dental procedures, but the incidence, characteristics and outcomes of delayed peripheral facial nerve palsy following dental work is poorly understood. Herein we describe the unique features of delayed facial paresis following dental procedures. An institutional retrospective review was performed to identify patients diagnosed with delayed facial nerve palsy within 30 days of dental manipulation. Demographics, prodromal signs and symptoms, initial medical treatment and outcomes were assessed. Of 2471 patients with facial palsy, 16 (0.7%) had delayed facial paresis following ipsilateral dental procedures. Average age at presentation was 44 yrs and 56% (9/16) were female. Clinical evaluation was consistent with Bell's palsy in 14 (88%) and Ramsay-Hunt syndrome in 2 patients (12%). Patients developed facial paresis an average of 3.9 days after the dental procedure, with all individuals developing a flaccid paralysis (House Brackmann (HB) grade VI) during the acute stage. 50% of patients developed persistent facial palsy in the form of non-flaccid facial paralysis (HBIII-IV). Facial palsy, like herpes labialis, can occur in the days following dental procedures and may also be related to viral reactivation. In this small cohort, long-term facial outcomes appear worse than for spontaneous Bell's palsy. Copyright © 2016 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  12. [Body dysmorphic disorder in cosmetic surgery - prevalence, psychiatric comorbidity and outcome].

    PubMed

    Hundscheid, T; van der Hulst, R R W J; Rutten, B P F; Leue, C

    2014-01-01

    Patients suffering from body dysmorphic disorder (bdd) are preoccupied with a slight or imagined defect in appearance. First of all, to review the literature on the prevalence of bdd in cosmetic surgery and thereafter to review the literature on psychiatric comorbidity and the outcome of surgical interventions. We based our search strategy on Embase, Medline and PubMed, using the search terms 'body dysmorphic disorder', 'cosmetic surgery', 'prevalence', 'comorbidity' and 'outcome'. Our search covered English and Dutch literature published after the introduction of bdd in dsm-iii-r and before 1 November, 2013. A study of the relevant articles enabled us to access additional articles mentioned in these texts. Our initial search strategy turned out to be too narrow. It was therefore broadened to include 'body dysmorphic disorder', 'cosmetic surgery', and 'prevalence'. Eventually we included 23 original articles. In 11 of these the prevalence of bdd varied from 3.2 to 53.6%. Twelve articles on psychiatric comorbidity revealed predominantly mood and anxiety disorders on axis I and cluster C personality disorders on axis II. Only two studies reported on the outcome of cosmetic surgery performed on bdd patients; surgical interventions, however, seemed to result in new preoccupations with the prolongation of psychiatric comorbidity. bdd is a common psychiatric disorder that can sometimes lead to cosmetic surgery. However, pre-operative screening of bdd patients is vital so that efficient psychiatric treatment can be initiated and patients are not subjected to surgical interventions which may be ineffective or even harmful.

  13. Face in profile view reduces perceived facial expression intensity: an eye-tracking study.

    PubMed

    Guo, Kun; Shaw, Heather

    2015-02-01

    Recent studies measuring the facial expressions of emotion have focused primarily on the perception of frontal face images. As we frequently encounter expressive faces from different viewing angles, having a mechanism which allows invariant expression perception would be advantageous to our social interactions. Although a couple of studies have indicated comparable expression categorization accuracy across viewpoints, it is unknown how perceived expression intensity and associated gaze behaviour change across viewing angles. Differences could arise because diagnostic cues from local facial features for decoding expressions could vary with viewpoints. Here we manipulated orientation of faces (frontal, mid-profile, and profile view) displaying six common facial expressions of emotion, and measured participants' expression categorization accuracy, perceived expression intensity and associated gaze patterns. In comparison with frontal faces, profile faces slightly reduced identification rates for disgust and sad expressions, but significantly decreased perceived intensity for all tested expressions. Although quantitatively viewpoint had expression-specific influence on the proportion of fixations directed at local facial features, the qualitative gaze distribution within facial features (e.g., the eyes tended to attract the highest proportion of fixations, followed by the nose and then the mouth region) was independent of viewpoint and expression type. Our results suggest that the viewpoint-invariant facial expression processing is categorical perception, which could be linked to a viewpoint-invariant holistic gaze strategy for extracting expressive facial cues. Copyright © 2014 Elsevier B.V. All rights reserved.

  14. [Effects of a Facial Muscle Exercise Program including Facial Massage for Patients with Facial Palsy].

    PubMed

    Choi, Hyoung Ju; Shin, Sung Hee

    2016-08-01

    The purpose of this study was to examine the effects of a facial muscle exercise program including facial massage on the facial muscle function, subjective symptoms related to paralysis and depression in patients with facial palsy. This study was a quasi-experimental research with a non-equivalent control group non-synchronized design. Participants were 70 patients with facial palsy (experimental group 35, control group 35). For the experimental group, the facial muscular exercise program including facial massage was performed 20 minutes a day, 3 times a week for two weeks. Data were analyzed using descriptive statistics, χ²-test, Fisher's exact test and independent sample t-test with the SPSS 18.0 program. Facial muscular function of the experimental group improved significantly compared to the control group. There was no significant difference in symptoms related to paralysis between the experimental group and control group. The level of depression in the experimental group was significantly lower than the control group. Results suggest that a facial muscle exercise program including facial massage is an effective nursing intervention to improve facial muscle function and decrease depression in patients with facial palsy.

  15. The look of fear and anger: facial maturity modulates recognition of fearful and angry expressions.

    PubMed

    Sacco, Donald F; Hugenberg, Kurt

    2009-02-01

    The current series of studies provide converging evidence that facial expressions of fear and anger may have co-evolved to mimic mature and babyish faces in order to enhance their communicative signal. In Studies 1 and 2, fearful and angry facial expressions were manipulated to have enhanced babyish features (larger eyes) or enhanced mature features (smaller eyes) and in the context of a speeded categorization task in Study 1 and a visual noise paradigm in Study 2, results indicated that larger eyes facilitated the recognition of fearful facial expressions, while smaller eyes facilitated the recognition of angry facial expressions. Study 3 manipulated facial roundness, a stable structure that does not vary systematically with expressions, and found that congruency between maturity and expression (narrow face-anger; round face-fear) facilitated expression recognition accuracy. Results are discussed as representing a broad co-evolutionary relationship between facial maturity and fearful and angry facial expressions. (c) 2009 APA, all rights reserved

  16. Stability of Facial Affective Expressions in Schizophrenia

    PubMed Central

    Fatouros-Bergman, H.; Spang, J.; Merten, J.; Preisler, G.; Werbart, A.

    2012-01-01

    Thirty-two videorecorded interviews were conducted by two interviewers with eight patients diagnosed with schizophrenia. Each patient was interviewed four times: three weekly interviews by the first interviewer and one additional interview by the second interviewer. 64 selected sequences where the patients were speaking about psychotic experiences were scored for facial affective behaviour with Emotion Facial Action Coding System (EMFACS). In accordance with previous research, the results show that patients diagnosed with schizophrenia express negative facial affectivity. Facial affective behaviour seems not to be dependent on temporality, since within-subjects ANOVA revealed no substantial changes in the amount of affects displayed across the weekly interview occasions. Whereas previous findings found contempt to be the most frequent affect in patients, in the present material disgust was as common, but depended on the interviewer. The results suggest that facial affectivity in these patients is primarily dominated by the negative emotions of disgust and, to a lesser extent, contempt and implies that this seems to be a fairly stable feature. PMID:22966449

  17. [Bone dysplasia with dwarfism and diffuse skeletal alterations].

    PubMed

    Piussan, C; Maroteaux, P; Castroviejo, I; Risbourg, B

    1975-01-01

    Six cases of a new hereditary chondrodyplasia are reported. The features are severe dwarfism, generalized hypotonia, frequent and considerable desaxations of fingers and toes. Slight facial dysmorphism with evolutive scoliosis is often associated. Osteopetrosis is diffuse and is associated with important metaphyseal widening as well as epiphyseal irregularities and often carpal and tarsal supernumerary bones. No metabolic or chromosomal abnormality was found. The relations of the disease with related types described in Larsen's syndrome are considered.

  18. A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.

    PubMed

    Tsurusaki, Yoshinori; Ohashi, Ikuko; Enomoto, Yumi; Naruto, Takuya; Mitsui, Jun; Aida, Noriko; Kurosawa, Kenji

    2017-01-01

    X-linked intellectual disability (ID) type Nascimento (MIM #300860), also known as ubiquitin-conjugating enzyme E2 A (UBE2A) deficiency syndrome, is a congenital malformation syndrome characterized by moderate to severe ID, speech impairment, dysmorphic facial features, genital anomalies and skin abnormalities. Here, we report a Japanese patient with severe ID and congenital cataract. We identified a novel hemizygous mutation (c.76G>A, p.Gly26Arg) in UBE2A by whole-exome sequencing.

  19. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features

    PubMed Central

    Adhikari, Kaustubh; Fontanil, Tania; Cal, Santiago; Mendoza-Revilla, Javier; Fuentes-Guajardo, Macarena; Chacón-Duque, Juan-Camilo; Al-Saadi, Farah; Johansson, Jeanette A.; Quinto-Sanchez, Mirsha; Acuña-Alonzo, Victor; Jaramillo, Claudia; Arias, William; Barquera Lozano, Rodrigo; Macín Pérez, Gastón; Gómez-Valdés, Jorge; Villamil-Ramírez, Hugo; Hunemeier, Tábita; Ramallo, Virginia; Silva de Cerqueira, Caio C.; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Gallo, Carla; Poletti, Giovanni; Schuler-Faccini, Lavinia; Salzano, Francisco M.; Bortolini, Maria-Cátira; Canizales-Quinteros, Samuel; Rothhammer, Francisco; Bedoya, Gabriel; Gonzalez-José, Rolando; Headon, Denis; López-Otín, Carlos; Tobin, Desmond J.; Balding, David; Ruiz-Linares, Andrés

    2016-01-01

    We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10−8 to 3 × 10−119), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair. PMID:26926045

  20. Gray Matter Heterotopia, Mental Retardation, Developmental Delay, Microcephaly, and Facial Dysmorphisms in a Boy with Ring Chromosome 6: A 10-Year Follow-Up and Literature Review.

    PubMed

    Liu, Shu; Wang, Zhiqing; Wei, Sisi; Liang, Jinqun; Chen, Nuan; OuYang, Haimei; Zeng, Weihong; Chen, Liying; Xie, Xunjie; Jiang, Jianhui

    2018-04-14

    Ring chromosome 6, r(6), is an extremely rare cytogenetic abnormality with clinical heterogeneity which arises typically de novo. The phenotypes of r(6) can be highly variable, ranging from almost normal to severe malformations and neurological defects. Up to now, only 33 cases have been reported in the literature. In this 10-year follow-up study, we report a case presenting distinctive facial features, severe developmental delay, and gray matter heterotopia with r(6) and terminal deletions of 6p25.3 (115426-384174, 268 kb) and 6q26-27 (168697778-170732033, 2.03 Mb) encompassing 2 and 15 candidate genes, respectively, which were detected using G-banding karyotyping, FISH, and chromosomal microarray analysis. We also analyzed the available information on the clinical features of the reported r(6) cases in order to provide more valuable information on genotype-phenotype correlations. To the best of our knowledge, this is the first report of gray matter heterotopia manifested in a patient with r(6) in China, and the deletions of 6p and 6q in our case are the smallest with the precise size of euchromatic material loss currently known. © 2018 S. Karger AG, Basel.

  1. Automated Video Based Facial Expression Analysis of Neuropsychiatric Disorders

    PubMed Central

    Wang, Peng; Barrett, Frederick; Martin, Elizabeth; Milanova, Marina; Gur, Raquel E.; Gur, Ruben C.; Kohler, Christian; Verma, Ragini

    2008-01-01

    Deficits in emotional expression are prominent in several neuropsychiatric disorders, including schizophrenia. Available clinical facial expression evaluations provide subjective and qualitative measurements, which are based on static 2D images that do not capture the temporal dynamics and subtleties of expression changes. Therefore, there is a need for automated, objective and quantitative measurements of facial expressions captured using videos. This paper presents a computational framework that creates probabilistic expression profiles for video data and can potentially help to automatically quantify emotional expression differences between patients with neuropsychiatric disorders and healthy controls. Our method automatically detects and tracks facial landmarks in videos, and then extracts geometric features to characterize facial expression changes. To analyze temporal facial expression changes, we employ probabilistic classifiers that analyze facial expressions in individual frames, and then propagate the probabilities throughout the video to capture the temporal characteristics of facial expressions. The applications of our method to healthy controls and case studies of patients with schizophrenia and Asperger’s syndrome demonstrate the capability of the video-based expression analysis method in capturing subtleties of facial expression. Such results can pave the way for a video based method for quantitative analysis of facial expressions in clinical research of disorders that cause affective deficits. PMID:18045693

  2. Novel Noninvasive Brain Disease Detection System Using a Facial Image Sensor

    PubMed Central

    Shu, Ting; Zhang, Bob; Tang, Yuan Yan

    2017-01-01

    Brain disease including any conditions or disabilities that affect the brain is fast becoming a leading cause of death. The traditional diagnostic methods of brain disease are time-consuming, inconvenient and non-patient friendly. As more and more individuals undergo examinations to determine if they suffer from any form of brain disease, developing noninvasive, efficient, and patient friendly detection systems will be beneficial. Therefore, in this paper, we propose a novel noninvasive brain disease detection system based on the analysis of facial colors. The system consists of four components. A facial image is first captured through a specialized sensor, where four facial key blocks are next located automatically from the various facial regions. Color features are extracted from each block to form a feature vector for classification via the Probabilistic Collaborative based Classifier. To thoroughly test the system and its performance, seven facial key block combinations were experimented. The best result was achieved using the second facial key block, where it showed that the Probabilistic Collaborative based Classifier is the most suitable. The overall performance of the proposed system achieves an accuracy −95%, a sensitivity −94.33%, a specificity −95.67%, and an average processing time (for one sample) of <1 min at brain disease detection. PMID:29292716

  3. 22q11.2 microduplication syndrome with congenital aural atresia: a family report.

    PubMed

    Boudewyns, An; van den Ende, Jenneke; Boiy, Tine; Van de Heyning, Paul; Declau, Frank

    2012-06-01

    22q11.2 microduplication syndrome is characterized by a large phenotypic variability including facial dysmorphism, developmental delay, and hearing loss. We describe a family in whom 5 of 11 children were affected by a unilateral or bilateral congenital aural atresia. Four of these 5 carried a 22q11.2 microduplication and had typical dysmorphic features. Computed tomography with 3-D reconstructions allowed for a detailed examination of the middle ear structures and classification of the atresia type. Audiometry revealed a moderately severe conductive hearing loss in accordance with the clinical and computed tomography findings. Detailed examination of the ear is warranted in patients with a 22q11.2 microduplication. When outer ear abnormalities are encountered, an additional workup including audiometry and computed tomography with 3-D reconstructions is required.

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

    PubMed

    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.

  5. The Emotional Modulation of Facial Mimicry: A Kinematic Study.

    PubMed

    Tramacere, Antonella; Ferrari, Pier F; Gentilucci, Maurizio; Giuffrida, Valeria; De Marco, Doriana

    2017-01-01

    It is well-established that the observation of emotional facial expression induces facial mimicry responses in the observers. However, how the interaction between emotional and motor components of facial expressions can modulate the motor behavior of the perceiver is still unknown. We have developed a kinematic experiment to evaluate the effect of different oro-facial expressions on perceiver's face movements. Participants were asked to perform two movements, i.e., lip stretching and lip protrusion, in response to the observation of four meaningful (i.e., smile, angry-mouth, kiss, and spit) and two meaningless mouth gestures. All the stimuli were characterized by different motor patterns (mouth aperture or mouth closure). Response Times and kinematics parameters of the movements (amplitude, duration, and mean velocity) were recorded and analyzed. Results evidenced a dissociated effect on reaction times and movement kinematics. We found shorter reaction time when a mouth movement was preceded by the observation of a meaningful and motorically congruent oro-facial gesture, in line with facial mimicry effect. On the contrary, during execution, the perception of smile was associated with the facilitation, in terms of shorter duration and higher velocity of the incongruent movement, i.e., lip protrusion. The same effect resulted in response to kiss and spit that significantly facilitated the execution of lip stretching. We called this phenomenon facial mimicry reversal effect , intended as the overturning of the effect normally observed during facial mimicry. In general, the findings show that both motor features and types of emotional oro-facial gestures (conveying positive or negative valence) affect the kinematics of subsequent mouth movements at different levels: while congruent motor features facilitate a general motor response, motor execution could be speeded by gestures that are motorically incongruent with the observed one. Moreover, valence effect depends on

  6. Morphological Integration of Soft-Tissue Facial Morphology in Down Syndrome and Siblings

    PubMed Central

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

    2011-01-01

    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. PMID:21996933

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

    PubMed

    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.

  8. Optimal Geometrical Set for Automated Marker Placement to Virtualized Real-Time Facial Emotions

    PubMed Central

    Maruthapillai, Vasanthan; Murugappan, Murugappan

    2016-01-01

    In recent years, real-time face recognition has been a major topic of interest in developing intelligent human-machine interaction systems. Over the past several decades, researchers have proposed different algorithms for facial expression recognition, but there has been little focus on detection in real-time scenarios. The present work proposes a new algorithmic method of automated marker placement used to classify six facial expressions: happiness, sadness, anger, fear, disgust, and surprise. Emotional facial expressions were captured using a webcam, while the proposed algorithm placed a set of eight virtual markers on each subject’s face. Facial feature extraction methods, including marker distance (distance between each marker to the center of the face) and change in marker distance (change in distance between the original and new marker positions), were used to extract three statistical features (mean, variance, and root mean square) from the real-time video sequence. The initial position of each marker was subjected to the optical flow algorithm for marker tracking with each emotional facial expression. Finally, the extracted statistical features were mapped into corresponding emotional facial expressions using two simple non-linear classifiers, K-nearest neighbor and probabilistic neural network. The results indicate that the proposed automated marker placement algorithm effectively placed eight virtual markers on each subject’s face and gave a maximum mean emotion classification rate of 96.94% using the probabilistic neural network. PMID:26859884

  9. Optimal Geometrical Set for Automated Marker Placement to Virtualized Real-Time Facial Emotions.

    PubMed

    Maruthapillai, Vasanthan; Murugappan, Murugappan

    2016-01-01

    In recent years, real-time face recognition has been a major topic of interest in developing intelligent human-machine interaction systems. Over the past several decades, researchers have proposed different algorithms for facial expression recognition, but there has been little focus on detection in real-time scenarios. The present work proposes a new algorithmic method of automated marker placement used to classify six facial expressions: happiness, sadness, anger, fear, disgust, and surprise. Emotional facial expressions were captured using a webcam, while the proposed algorithm placed a set of eight virtual markers on each subject's face. Facial feature extraction methods, including marker distance (distance between each marker to the center of the face) and change in marker distance (change in distance between the original and new marker positions), were used to extract three statistical features (mean, variance, and root mean square) from the real-time video sequence. The initial position of each marker was subjected to the optical flow algorithm for marker tracking with each emotional facial expression. Finally, the extracted statistical features were mapped into corresponding emotional facial expressions using two simple non-linear classifiers, K-nearest neighbor and probabilistic neural network. The results indicate that the proposed automated marker placement algorithm effectively placed eight virtual markers on each subject's face and gave a maximum mean emotion classification rate of 96.94% using the probabilistic neural network.

  10. Rules versus Prototype Matching: Strategies of Perception of Emotional Facial Expressions in the Autism Spectrum

    ERIC Educational Resources Information Center

    Rutherford, M. D.; McIntosh, Daniel N.

    2007-01-01

    When perceiving emotional facial expressions, people with autistic spectrum disorders (ASD) appear to focus on individual facial features rather than configurations. This paper tests whether individuals with ASD use these features in a rule-based strategy of emotional perception, rather than a typical, template-based strategy by considering…

  11. What's in a face? The role of skin tone, facial physiognomy, and color presentation mode of facial primes in affective priming effects.

    PubMed

    Stepanova, Elena V; Strube, Michael J

    2012-01-01

    Participants (N = 106) performed an affective priming task with facial primes that varied in their skin tone and facial physiognomy, and, which were presented either in color or in gray-scale. Participants' racial evaluations were more positive for Eurocentric than for Afrocentric physiognomy faces. Light skin tone faces were evaluated more positively than dark skin tone faces, but the magnitude of this effect depended on the mode of color presentation. The results suggest that in affective priming tasks, faces might not be processed holistically, and instead, visual features of facial priming stimuli independently affect implicit evaluations.

  12. Shadows of Beauty - Prevalence of Body Dysmorphic Concerns in Germany is Increasing: Data from Two Representative Samples from 2002 and 2013.

    PubMed

    Gieler, Tanja; Schmutzer, Gabriele; Braehler, Elmar; Schut, Christina; Peters, Eva; Kupfer, Jörg

    2016-08-23

    Body dysmorphic disorder (BDD) is a psychosomatic disease associated with reduced quality of life and suicidal ideations. Increasing attention to beauty and the development of beauty industries lead to the hypothesis that BDD is increasing. The aim of this study was to test this hypothesis in two representative samples of Germans, assessed in 2002 and 2013. In 2002, n = 2,066 and in 2013, n = 2,508 Germans were asked to fill in the Dysmorphic Concern Questionnaire (DCQ), which assesses dysmorphic concerns. Subclinical and clinical dysmorphic concerns increased from 2002 to 2013 (subclinical from 0.5% to 2.6%, OR = 5.16 (CI95% = 2.64; 10.06); clinical from 0.5% to 1.0%, OR = 2.20 (CI95% = 1.03; 4.73). Women reported more dysmorphic concerns than men, with rates of 0.7% subclinical and 0.8 clinical BDD in women and 0.3% subclinical and 0.1% clinical BDD in men in 2002. In 2013, 2.8% subclinical and 1.2% clinical BDD were found in women and 2.4% subclinical and 0.8% clinical BDD in men. Further studies should assess predictors for developing a BDD and evaluate factors determining the efficacy of disease-specific psychotherapeutic and psychotropic drug treatments.

  13. Brain connectome modularity in weight-restored anorexia nervosa and body dysmorphic disorder

    PubMed Central

    Zhang, A; Leow, A; Zhan, L; GadElkarim, J; Moody, T; Khalsa, S; Strober, M; Feusner, JD

    2017-01-01

    Background Anorexia nervosa (AN) and body dysmorphic disorder (BDD) frequently co-occur, and have several overlapping phenomenological features. Little is known about their shared neurobiology. Aims To compare modular organization of brain structural connectivity. Methods We acquired diffusion-weighted magnetic resonance imaging data on unmedicated individuals with BDD (n=29), weight-restored AN (n=24), and healthy controls (HC) (n=31). We constructed connectivity matrices using whole-brain white matter tractography, and compared modular structures across groups. Results AN showed abnormal modularity involving frontal, basal ganglia, and posterior cingulate nodes. There was a trend in BDD for similar abnormalities, but no significant differences compared with AN. In AN, poor insight correlated with longer path length in right caudal anterior cingulate and right posterior cingulate. Conclusions Abnormal network organization patterns in AN, partially shared with BDD, may have implications for understanding integration between reward and habit/ritual formation, as well as conflict monitoring/error detection. PMID:27429183

  14. Patterns of Eye Movements When Observers Judge Female Facial Attractiveness

    PubMed Central

    Zhang, Yan; Wang, Xiaoying; Wang, Juan; Zhang, Lili; Xiang, Yu

    2017-01-01

    The purpose of the present study is to explore the fixed model for the explicit judgments of attractiveness and infer which features are important to judge the facial attractiveness. Behavioral studies on the perceptual cues for female facial attractiveness implied three potentially important features: averageness, symmetry, and sexual dimorphy. However, these studies did not explained which regions of facial images influence the judgments of attractiveness. Therefore, the present research recorded the eye movements of 24 male participants and 19 female participants as they rated a series of 30 photographs of female facial attractiveness. Results demonstrated the following: (1) Fixation is longer and more frequent on the noses of female faces than on their eyes and mouths (no difference exists between the eyes and the mouth); (2) The average pupil diameter at the nose region is bigger than that at the eyes and mouth (no difference exists between the eyes and the mouth); (3) the number of fixations of male participants was significantly more than female participants. (4) Observers first fixate on the eyes and mouth (no difference exists between the eyes and the mouth) before fixating on the nose area. In general, participants attend predominantly to the nose to form attractiveness judgments. The results of this study add a new dimension to the existing literature on judgment of facial attractiveness. The major contribution of the present study is the finding that the area of the nose is vital in the judgment of facial attractiveness. This finding establish a contribution of partial processing on female facial attractiveness judgments during eye-tracking. PMID:29209242

  15. Patterns of Eye Movements When Observers Judge Female Facial Attractiveness.

    PubMed

    Zhang, Yan; Wang, Xiaoying; Wang, Juan; Zhang, Lili; Xiang, Yu

    2017-01-01

    The purpose of the present study is to explore the fixed model for the explicit judgments of attractiveness and infer which features are important to judge the facial attractiveness. Behavioral studies on the perceptual cues for female facial attractiveness implied three potentially important features: averageness, symmetry, and sexual dimorphy. However, these studies did not explained which regions of facial images influence the judgments of attractiveness. Therefore, the present research recorded the eye movements of 24 male participants and 19 female participants as they rated a series of 30 photographs of female facial attractiveness. Results demonstrated the following: (1) Fixation is longer and more frequent on the noses of female faces than on their eyes and mouths (no difference exists between the eyes and the mouth); (2) The average pupil diameter at the nose region is bigger than that at the eyes and mouth (no difference exists between the eyes and the mouth); (3) the number of fixations of male participants was significantly more than female participants. (4) Observers first fixate on the eyes and mouth (no difference exists between the eyes and the mouth) before fixating on the nose area. In general, participants attend predominantly to the nose to form attractiveness judgments. The results of this study add a new dimension to the existing literature on judgment of facial attractiveness. The major contribution of the present study is the finding that the area of the nose is vital in the judgment of facial attractiveness. This finding establish a contribution of partial processing on female facial attractiveness judgments during eye-tracking.

  16. Automated facial acne assessment from smartphone images

    NASA Astrophysics Data System (ADS)

    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.

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

    PubMed

    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.

  18. Emotion Estimation Algorithm from Facial Image Analyses of e-Learning Users

    NASA Astrophysics Data System (ADS)

    Shigeta, Ayuko; Koike, Takeshi; Kurokawa, Tomoya; Nosu, Kiyoshi

    This paper proposes an emotion estimation algorithm from e-Learning user's facial image. The algorithm characteristics are as follows: The criteria used to relate an e-Learning use's emotion to a representative emotion were obtained from the time sequential analysis of user's facial expressions. By examining the emotions of the e-Learning users and the positional change of the facial expressions from the experiment results, the following procedures are introduce to improve the estimation reliability; (1) some effective features points are chosen by the emotion estimation (2) dividing subjects into two groups by the change rates of the face feature points (3) selection of the eigenvector of the variance-co-variance matrices (cumulative contribution rate>=95%) (4) emotion calculation using Mahalanobis distance.

  19. Isolated facial myokymia as a presenting feature of pontine neurocysticercosis.

    PubMed

    Bhatia, Rohit; Desai, Soaham; Garg, Ajay; Padma, Madakasira V; Prasad, Kameshwar; Tripathi, Manjari

    2008-01-01

    A 45-year-old healthy man presented with 2 weeks history of continuous rippling and quivering movements of his right side of face and neck suggestive of myokymia. MRI scan of the head revealed neurocysticercus in the pons. Treatment with steroids and carbamezapine produced a significant benefit. This is the first report of pontine neurocysticercosis presenting as an isolated facial myokymia. 2007 Movement Disorder Society

  20. Screening for Body Dysmorphic Disorder in a Dermatology Outpatient Setting at a Tertiary Care Centre

    PubMed Central

    Thanveer, Fibin; Khunger, Niti

    2016-01-01

    Context: A distressing pre-occupation with an imagined or slight defect in appearance with a marked negative effect on the patient's life is the core symptom of body dysmorphic disorder (BDD). Aim: To screen the patients attending a dermatology clinic at a tertiary care centre for BDD using the BDD-dermatology version (DV) questionnaire. Settings and Design: This cross-sectional study enrolled 245 consecutive patients from the dermatology outpatients clinic. Methods: The demographic details were collected and the DV of BDD screening questionnaire was administered. A 5-point Likert scale was used for objective scoring of the stated concern and patients who scored ≥3 were excluded from the study. Statistical Analysis Used: The results were statistically analysed. Differences between the groups were investigated by Chi-square analysis for categorical variables, and Fisher exact test wherever required. Results: A total of 177 patients completed the study, and of these, eight patients screened positive for BDD. The rate of BDD in patients presenting with cosmetic complaints was 7.5% and in those with general dermatology, complaints were 2.1%, with no significant difference between the two groups (P = 0.156). Facial flaws (62.5%) were the most common concern followed by body asymmetry (25%). Conclusion: The rates of BDD found in this study are comparable but at a lower rate than that reported in literature data. PMID:27761090

  1. Multiple mechanisms in the perception of face gender: Effect of sex-irrelevant features.

    PubMed

    Komori, Masashi; Kawamura, Satoru; Ishihara, Shigekazu

    2011-06-01

    Effects of sex-relevant and sex-irrelevant facial features on the evaluation of facial gender were investigated. Participants rated masculinity of 48 male facial photographs and femininity of 48 female facial photographs. Eighty feature points were measured on each of the facial photographs. Using a generalized Procrustes analysis, facial shapes were converted into multidimensional vectors, with the average face as a starting point. Each vector was decomposed into a sex-relevant subvector and a sex-irrelevant subvector which were, respectively, parallel and orthogonal to the main male-female axis. Principal components analysis (PCA) was performed on the sex-irrelevant subvectors. One principal component was negatively correlated with both perceived masculinity and femininity, and another was correlated only with femininity, though both components were orthogonal to the male-female dimension (and thus by definition sex-irrelevant). These results indicate that evaluation of facial gender depends on sex-irrelevant as well as sex-relevant facial features.

  2. Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

    PubMed Central

    Willemsen, Marjolein H; Fernandez, Bridget A; Bacino, Carlos A; Gerkes, Erica; de Brouwer, Arjan PM; Pfundt, Rolph; Sikkema-Raddatz, Birgit; Scherer, Stephen W; Marshall, Christian R; Potocki, Lorraine; van Bokhoven, Hans; Kleefstra, Tjitske

    2010-01-01

    The clinical use of array comparative genomic hybridization in the evaluation of patients with multiple congenital anomalies and/or mental retardation has recently led to the discovery of a number of novel microdeletion and microduplication syndromes. We present four male patients with overlapping molecularly defined de novo microdeletions of 16q24.3. The clinical features observed in these patients include facial dysmorphisms comprising prominent forehead, large ears, smooth philtrum, pointed chin and wide mouth, variable cognitive impairment, autism spectrum disorder, structural anomalies of the brain, seizures and neonatal thrombocytopenia. Although deletions vary in size, the common region of overlap is only 90 kb and comprises two known genes, Ankyrin Repeat Domain 11 (ANKRD11) (MIM 611192) and Zinc Finger 778 (ZNF778), and is located approximately 10 kb distally to Cadherin 15 (CDH15) (MIM 114019). This region is not found as a copy number variation in controls. We propose that these patients represent a novel and distinctive microdeletion syndrome, characterized by autism spectrum disorder, variable cognitive impairment, facial dysmorphisms and brain abnormalities. We suggest that haploinsufficiency of ANKRD11 and/or ZNF778 contribute to this phenotype and speculate that further investigation of non-deletion patients who have features suggestive of this 16q24.3 microdeletion syndrome might uncover other mutations in one or both of these genes. PMID:19920853

  3. Body Dysmorphic Disorder: Some Key Issues for DSM-V

    PubMed Central

    Phillips, Katharine A.; Wilhelm, Sabine; Koran, Lorrin M.; Didie, Elizabeth R.; Fallon, Brian A.; Feusner, Jamie; Stein, Dan J.

    2014-01-01

    Body dysmorphic disorder (BDD), a distressing or impairing preoccupation with an imagined or slight defect in appearance, has been described for more than a century and increasingly studied over the past several decades. This paper provides a focused review of issues pertaining to BDD that are relevant to DSM-V. The review presents a number of options and preliminary recommendations to be considered for DSM-V: 1) Criterion A may benefit from some rewording, without changing its focus or meaning; 2) Potential disadvantages of adding a new criterion to reflect BDD compulsive behaviors seem to outweigh potential advantages, but adding such a criterion remains an option that can be considered; 3) A clinical significance criterion seems necessary for BDD to differentiate it from normal appearance concerns; 4) BDD and eating disorders have some overlapping features and need to be differentiated; some minor changes to DSM-IV’s criterion C are suggested; 5) BDD should not be broadened to include body integrity identity disorder (apotemnophilia) or olfactory reference syndrome; 6) There is no compelling evidence for including diagnostic features or subtypes that are specific to gender-related, age-related, or cultural manifestations of BDD; 7) Adding muscle dysmorphia as a specifier may have clinical utility; and 8) The ICD-10 criteria for hypochondriacal disorder are not suitable for BDD, and there is no empirical evidence that BDD and hypochondriasis are the same disorder. The issue of how BDD’s delusional variant should be classified in DSM-V is briefly discussed and will be addressed more extensively in a separate paper. PMID:20533368

  4. Body dysmorphic disorder: some key issues for DSM-V.

    PubMed

    Phillips, Katharine A; Wilhelm, Sabine; Koran, Lorrin M; Didie, Elizabeth R; Fallon, Brian A; Feusner, Jamie; Stein, Dan J

    2010-06-01

    Body dysmorphic disorder (BDD), a distressing or impairing preoccupation with an imagined or slight defect in appearance, has been described for more than a century and increasingly studied over the past several decades. This article provides a focused review of issues pertaining to BDD that are relevant to DSM-V. The review presents a number of options and preliminary recommendations to be considered for DSM-V: (1) Criterion A may benefit from some rewording, without changing its focus or meaning; (2) There are both advantages and disadvantages to adding a new criterion to reflect compulsive BDD behaviors; this possible addition requires further consideration; (3) A clinical significance criterion seems necessary for BDD to differentiate it from normal appearance concerns; (4) BDD and eating disorders have some overlapping features and need to be differentiated; some minor changes to DSM-IV's criterion C are suggested; (5) BDD should not be broadened to include body integrity identity disorder (apotemnophilia) or olfactory reference syndrome; (6) There is no compelling evidence for including diagnostic features or subtypes that are specific to gender-related, age-related, or cultural manifestations of BDD; (7) Adding muscle dysmorphia as a specifier may have clinical utility; and (8) The ICD-10 criteria for hypochondriacal disorder are not suitable for BDD, and there is no empirical evidence that BDD and hypochondriasis are the same disorder. The issue of how BDD's delusional variant should be classified in DSM-V is briefly discussed and will be addressed more extensively in a separate article. (c) 2010 Wiley-Liss, Inc.

  5. A small-world network model of facial emotion recognition.

    PubMed

    Takehara, Takuma; Ochiai, Fumio; Suzuki, Naoto

    2016-01-01

    Various models have been proposed to increase understanding of the cognitive basis of facial emotions. Despite those efforts, interactions between facial emotions have received minimal attention. If collective behaviours relating to each facial emotion in the comprehensive cognitive system could be assumed, specific facial emotion relationship patterns might emerge. In this study, we demonstrate that the frameworks of complex networks can effectively capture those patterns. We generate 81 facial emotion images (6 prototypes and 75 morphs) and then ask participants to rate degrees of similarity in 3240 facial emotion pairs in a paired comparison task. A facial emotion network constructed on the basis of similarity clearly forms a small-world network, which features an extremely short average network distance and close connectivity. Further, even if two facial emotions have opposing valences, they are connected within only two steps. In addition, we show that intermediary morphs are crucial for maintaining full network integration, whereas prototypes are not at all important. These results suggest the existence of collective behaviours in the cognitive systems of facial emotions and also describe why people can efficiently recognize facial emotions in terms of information transmission and propagation. For comparison, we construct three simulated networks--one based on the categorical model, one based on the dimensional model, and one random network. The results reveal that small-world connectivity in facial emotion networks is apparently different from those networks, suggesting that a small-world network is the most suitable model for capturing the cognitive basis of facial emotions.

  6. Enhancing the Detection of Dysmorphic Red Blood Cells and Renal Tubular Epithelial Cells with a Modified Urinalysis Protocol.

    PubMed

    Chu-Su, Yu; Shukuya, Kenichi; Yokoyama, Takashi; Lin, Wei-Chou; Chiang, Chih-Kang; Lin, Chii-Wann

    2017-01-11

    Urinary sediment is used to evaluate patients with possible urinary tract diseases. Currently, numerous protocols are applied to detect dysmorphic red blood cells (RBCs) and renal tubular epithelial cells (RTECs) in urinary sediment. However, distinct protocols are used by nephrologists and medical technologists for specimen concentration and observation, which leads to major discrepancies in the differential counts of formed elements such as dysmorphic RBCs and RTECs and might interfere with an accurate clinical diagnosis. To resolve these problems, we first tested a modified urinalysis protocol with an increased relative centrifuge force and concentration factor in 20 biopsy-confirmed glomerulonephritis patients with haematuria. We successfully improved the recovery ratio of dysmorphic RBCs in clinical specimens from 34.7% to 42.0% (P < 0.001). Furthermore, we confirmed the correlation between counts by the modified urinary protocol and Sysmex UF-1000i urinary flow cytometer (r ≥ 0.898, P < 0.001). A total of 28 types of isomorphic and dysmorphic RBCs were detected using a bright field microscope, with results comparable to those using a standard phase contrast microscope. Finally, we applied Sternheimer stain to enhance the contrast of RTECs in the urinary sediments. We concluded that this modified urinalysis protocol significantly enhanced the quality of urinalysis.

  7. Enhancing the Detection of Dysmorphic Red Blood Cells and Renal Tubular Epithelial Cells with a Modified Urinalysis Protocol

    PubMed Central

    Chu-Su, Yu; Shukuya, Kenichi; Yokoyama, Takashi; Lin, Wei-Chou; Chiang, Chih-Kang; Lin, Chii-Wann

    2017-01-01

    Urinary sediment is used to evaluate patients with possible urinary tract diseases. Currently, numerous protocols are applied to detect dysmorphic red blood cells (RBCs) and renal tubular epithelial cells (RTECs) in urinary sediment. However, distinct protocols are used by nephrologists and medical technologists for specimen concentration and observation, which leads to major discrepancies in the differential counts of formed elements such as dysmorphic RBCs and RTECs and might interfere with an accurate clinical diagnosis. To resolve these problems, we first tested a modified urinalysis protocol with an increased relative centrifuge force and concentration factor in 20 biopsy-confirmed glomerulonephritis patients with haematuria. We successfully improved the recovery ratio of dysmorphic RBCs in clinical specimens from 34.7% to 42.0% (P < 0.001). Furthermore, we confirmed the correlation between counts by the modified urinary protocol and Sysmex UF-1000i urinary flow cytometer (r ≥ 0.898, P < 0.001). A total of 28 types of isomorphic and dysmorphic RBCs were detected using a bright field microscope, with results comparable to those using a standard phase contrast microscope. Finally, we applied Sternheimer stain to enhance the contrast of RTECs in the urinary sediments. We concluded that this modified urinalysis protocol significantly enhanced the quality of urinalysis. PMID:28074941

  8. Sound-induced facial synkinesis following facial nerve paralysis.

    PubMed

    Ma, Ming-San; van der Hoeven, Johannes H; Nicolai, Jean-Philippe A; Meek, Marcel F

    2009-08-01

    Facial synkinesis (or synkinesia) (FS) occurs frequently after paresis or paralysis of the facial nerve and is in most cases due to aberrant regeneration of (branches of) the facial nerve. Patients suffer from inappropriate and involuntary synchronous facial muscle contractions. Here we describe two cases of sound-induced facial synkinesis (SFS) after facial nerve injury. As far as we know, this phenomenon has not been described in the English literature before. Patient A presented with right hemifacial palsy after lesion of the facial nerve due to skull base fracture. He reported involuntary muscle activity at the right corner of the mouth, specifically on hearing ringing keys. Patient B suffered from left hemifacial palsy following otitis media and developed involuntary muscle contraction in the facial musculature specifically on hearing clapping hands or a trumpet sound. Both patients were evaluated by means of video, audio and EMG analysis. Possible mechanisms in the pathophysiology of SFS are postulated and therapeutic options are discussed.

  9. The Associations between Visual Attention and Facial Expression Identification in Patients with Schizophrenia.

    PubMed

    Lin, I-Mei; Fan, Sheng-Yu; Huang, Tiao-Lai; Wu, Wan-Ting; Li, Shi-Ming

    2013-12-01

    Visual search is an important attention process that precedes the information processing. Visual search also mediates the relationship between cognition function (attention) and social cognition (such as facial expression identification). However, the association between visual attention and social cognition in patients with schizophrenia remains unknown. The purposes of this study were to examine the differences in visual search performance and facial expression identification between patients with schizophrenia and normal controls, and to explore the relationship between visual search performance and facial expression identification in patients with schizophrenia. Fourteen patients with schizophrenia (mean age=46.36±6.74) and 15 normal controls (mean age=40.87±9.33) participated this study. The visual search task, including feature search and conjunction search, and Japanese and Caucasian Facial Expression of Emotion were administered. Patients with schizophrenia had worse visual search performance both in feature search and conjunction search than normal controls, as well as had worse facial expression identification, especially in surprised and sadness. In addition, there were negative associations between visual search performance and facial expression identification in patients with schizophrenia, especially in surprised and sadness. However, this phenomenon was not showed in normal controls. Patients with schizophrenia who had visual search deficits had the impairment on facial expression identification. Increasing ability of visual search and facial expression identification may improve their social function and interpersonal relationship.

  10. Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

    PubMed

    Bedeschi, Maria Francesca; Marangi, Giuseppe; Calvello, Maria Rosaria; Ricciardi, Stefania; Leone, Francesca Pia Chiara; Baccarin, Marco; Guerneri, Silvana; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Frangella, Silvia; Keena, Beth; Harr, Margaret H; Zackai, Elaine; Zollino, Marcella

    2017-11-01

    Pitt-Hopkins syndrome is a neurodevelopmental disorder characterized by severe intellectual disability and a distinctive facial gestalt. It is caused by haploinsufficiency of the TCF4 gene. The TCF4 protein has different functional domains, with the NLS (nuclear localization signal) domain coded by exons 7-8 and the bHLH (basic Helix-Loop-Helix) domain coded by exon 18. Several alternatively spliced TCF4 variants have been described, allowing for translation of variable protein isoforms. Typical PTHS patients have impairment of at least the bHLH domain. To which extent impairment of the remaining domains contributes to the final phenotype is not clear. There is recent evidence that certain loss-of-function variants disrupting TCF4 are associated with mild ID, but not with typical PTHS. We describe a frameshift-causing partial gene deletion encompassing exons 4-6 of TCF4 in an adult patient with mild ID and nonspecific facial dysmorphisms but without the typical features of PTHS, and a c.520C > T nonsense variant within exon 8 in a child presenting with a severe phenotype largely mimicking PTHS, but lacking the typical facial dysmorphism. Investigation on mRNA, along with literature review, led us to suggest a preliminary phenotypic map of loss-of-function variants affecting TCF4. An intragenic phenotypic map of loss-of-function variants in TCF4 is suggested here for the first time: variants within exons 1-4 and exons 4-6 give rise to a recurrent phenotype with mild ID not in the spectrum of Pitt-Hopkins syndrome (biallelic preservation of both the NLS and bHLH domains); variants within exons 7-8 cause a severe phenotype resembling PTHS but in absence of the typical facial dysmorphism (impairment limited to the NLS domain); variants within exons 9-19 cause typical Pitt-Hopkins syndrome (impairment of at least the bHLH domain). Understanding the TCF4 molecular syndromology can allow for proper nosology in the current era of whole genomic investigations. Copyright

  11. Luminance sticker based facial expression recognition using discrete wavelet transform for physically disabled persons.

    PubMed

    Nagarajan, R; Hariharan, M; Satiyan, M

    2012-08-01

    Developing tools to assist physically disabled and immobilized people through facial expression is a challenging area of research and has attracted many researchers recently. In this paper, luminance stickers based facial expression recognition is proposed. Recognition of facial expression is carried out by employing Discrete Wavelet Transform (DWT) as a feature extraction method. Different wavelet families with their different orders (db1 to db20, Coif1 to Coif 5 and Sym2 to Sym8) are utilized to investigate their performance in recognizing facial expression and to evaluate their computational time. Standard deviation is computed for the coefficients of first level of wavelet decomposition for every order of wavelet family. This standard deviation is used to form a set of feature vectors for classification. In this study, conventional validation and cross validation are performed to evaluate the efficiency of the suggested feature vectors. Three different classifiers namely Artificial Neural Network (ANN), k-Nearest Neighborhood (kNN) and Linear Discriminant Analysis (LDA) are used to classify a set of eight facial expressions. The experimental results demonstrate that the proposed method gives very promising classification accuracies.

  12. Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

    PubMed

    Piard, Juliette; Lespinasse, James; Vlckova, Marketa; Mensah, Martin A; Iurian, Sorin; Simandlova, Martina; Malikova, Marcela; Bartsch, Oliver; Rossi, Massimiliano; Lenoir, Marion; Nugues, Frédérique; Mundlos, Stefan; Kornak, Uwe; Stanier, Philip; Sousa, Sérgio B; Van Maldergem, Lionel

    2018-03-01

    The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability. This disorder called Lenz-Majewski syndrome (LMS) is associated with gain of function mutations in PTDSS1, encoding an enzyme involved in phospholipid biosynthesis. This report illustrates that LMS is an unequivocal cutis laxa syndrome and expands the clinical and molecular spectrum of this group of disorders. In the neonatal period, brachydactyly and facial dysmorphism are two early distinctive signs, later followed by intellectual disability and hyperostotic skeletal dysplasia with severe dwarfism allowing differentiation of this condition from other cutis laxa phenotypes. Further studies are needed to understand the link between PTDSS1 and extra cellular matrix assembly. © 2018 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

  13. Facial color is an efficient mechanism to visually transmit emotion

    PubMed Central

    Benitez-Quiroz, Carlos F.; Srinivasan, Ramprakash

    2018-01-01

    Facial expressions of emotion in humans are believed to be produced by contracting one’s facial muscles, generally called action units. However, the surface of the face is also innervated with a large network of blood vessels. Blood flow variations in these vessels yield visible color changes on the face. Here, we study the hypothesis that these visible facial colors allow observers to successfully transmit and visually interpret emotion even in the absence of facial muscle activation. To study this hypothesis, we address the following two questions. Are observable facial colors consistent within and differential between emotion categories and positive vs. negative valence? And does the human visual system use these facial colors to decode emotion from faces? These questions suggest the existence of an important, unexplored mechanism of the production of facial expressions of emotion by a sender and their visual interpretation by an observer. The results of our studies provide evidence in favor of our hypothesis. We show that people successfully decode emotion using these color features, even in the absence of any facial muscle activation. We also demonstrate that this color signal is independent from that provided by facial muscle movements. These results support a revised model of the production and perception of facial expressions of emotion where facial color is an effective mechanism to visually transmit and decode emotion. PMID:29555780

  14. Facial color is an efficient mechanism to visually transmit emotion.

    PubMed

    Benitez-Quiroz, Carlos F; Srinivasan, Ramprakash; Martinez, Aleix M

    2018-04-03

    Facial expressions of emotion in humans are believed to be produced by contracting one's facial muscles, generally called action units. However, the surface of the face is also innervated with a large network of blood vessels. Blood flow variations in these vessels yield visible color changes on the face. Here, we study the hypothesis that these visible facial colors allow observers to successfully transmit and visually interpret emotion even in the absence of facial muscle activation. To study this hypothesis, we address the following two questions. Are observable facial colors consistent within and differential between emotion categories and positive vs. negative valence? And does the human visual system use these facial colors to decode emotion from faces? These questions suggest the existence of an important, unexplored mechanism of the production of facial expressions of emotion by a sender and their visual interpretation by an observer. The results of our studies provide evidence in favor of our hypothesis. We show that people successfully decode emotion using these color features, even in the absence of any facial muscle activation. We also demonstrate that this color signal is independent from that provided by facial muscle movements. These results support a revised model of the production and perception of facial expressions of emotion where facial color is an effective mechanism to visually transmit and decode emotion. Copyright © 2018 the Author(s). Published by PNAS.

  15. Facial dynamics and emotional expressions in facial aging treatments.

    PubMed

    Michaud, Thierry; Gassia, Véronique; Belhaouari, Lakhdar

    2015-03-01

    Facial expressions convey emotions that form the foundation of interpersonal relationships, and many of these emotions promote and regulate our social linkages. Hence, the facial aging symptomatological analysis and the treatment plan must of necessity include knowledge of the facial dynamics and the emotional expressions of the face. This approach aims to more closely meet patients' expectations of natural-looking results, by correcting age-related negative expressions while observing the emotional language of the face. This article will successively describe patients' expectations, the role of facial expressions in relational dynamics, the relationship between facial structures and facial expressions, and the way facial aging mimics negative expressions. Eventually, therapeutic implications for facial aging treatment will be addressed. © 2015 Wiley Periodicals, Inc.

  16. Automatic recognition of emotions from facial expressions

    NASA Astrophysics Data System (ADS)

    Xue, Henry; Gertner, Izidor

    2014-06-01

    In the human-computer interaction (HCI) process it is desirable to have an artificial intelligent (AI) system that can identify and categorize human emotions from facial expressions. Such systems can be used in security, in entertainment industries, and also to study visual perception, social interactions and disorders (e.g. schizophrenia and autism). In this work we survey and compare the performance of different feature extraction algorithms and classification schemes. We introduce a faster feature extraction method that resizes and applies a set of filters to the data images without sacrificing the accuracy. In addition, we have enhanced SVM to multiple dimensions while retaining the high accuracy rate of SVM. The algorithms were tested using the Japanese Female Facial Expression (JAFFE) Database and the Database of Faces (AT&T Faces).

  17. Effects of facial emotion recognition remediation on visual scanning of novel face stimuli.

    PubMed

    Marsh, Pamela J; Luckett, Gemma; Russell, Tamara; Coltheart, Max; Green, Melissa J

    2012-11-01

    Previous research shows that emotion recognition in schizophrenia can be improved with targeted remediation that draws attention to important facial features (eyes, nose, mouth). Moreover, the effects of training have been shown to last for up to one month after training. The aim of this study was to investigate whether improved emotion recognition of novel faces is associated with concomitant changes in visual scanning of these same novel facial expressions. Thirty-nine participants with schizophrenia received emotion recognition training using Ekman's Micro-Expression Training Tool (METT), with emotion recognition and visual scanpath (VSP) recordings to face stimuli collected simultaneously. Baseline ratings of interpersonal and cognitive functioning were also collected from all participants. Post-METT training, participants showed changes in foveal attention to the features of facial expressions of emotion not used in METT training, which were generally consistent with the information about important features from the METT. In particular, there were changes in how participants looked at the features of facial expressions of emotion surprise, disgust, fear, happiness, and neutral, demonstrating that improved emotion recognition is paralleled by changes in the way participants with schizophrenia viewed novel facial expressions of emotion. However, there were overall decreases in foveal attention to sad and neutral faces that indicate more intensive instruction might be needed for these faces during training. Most importantly, the evidence shows that participant gender may affect training outcomes. Copyright © 2012 Elsevier B.V. All rights reserved.

  18. Using Event Related Potentials to Explore Stages of Facial Affect Recognition Deficits in Schizophrenia

    PubMed Central

    Wynn, Jonathan K.; Lee, Junghee; Horan, William P.; Green, Michael F.

    2008-01-01

    Schizophrenia patients show impairments in identifying facial affect; however, it is not known at what stage facial affect processing is impaired. We evaluated 3 event-related potentials (ERPs) to explore stages of facial affect processing in schizophrenia patients. Twenty-six schizophrenia patients and 27 normal controls participated. In separate blocks, subjects identified the gender of a face, the emotion of a face, or if a building had 1 or 2 stories. Three ERPs were examined: (1) P100 to examine basic visual processing, (2) N170 to examine facial feature encoding, and (3) N250 to examine affect decoding. Behavioral performance on each task was also measured. Results showed that schizophrenia patients’ P100 was comparable to the controls during all 3 identification tasks. Both patients and controls exhibited a comparable N170 that was largest during processing of faces and smallest during processing of buildings. For both groups, the N250 was largest during the emotion identification task and smallest for the building identification task. However, the patients produced a smaller N250 compared with the controls across the 3 tasks. The groups did not differ in behavioral performance in any of the 3 identification tasks. The pattern of intact P100 and N170 suggest that patients maintain basic visual processing and facial feature encoding abilities. The abnormal N250 suggests that schizophrenia patients are less efficient at decoding facial affect features. Our results imply that abnormalities in the later stage of feature decoding could potentially underlie emotion identification deficits in schizophrenia. PMID:18499704

  19. Contextual interference processing during fast categorisations of facial expressions.

    PubMed

    Frühholz, Sascha; Trautmann-Lengsfeld, Sina A; Herrmann, Manfred

    2011-09-01

    We examined interference effects of emotionally associated background colours during fast valence categorisations of negative, neutral and positive expressions. According to implicitly learned colour-emotion associations, facial expressions were presented with colours that either matched the valence of these expressions or not. Experiment 1 included infrequent non-matching trials and Experiment 2 a balanced ratio of matching and non-matching trials. Besides general modulatory effects of contextual features on the processing of facial expressions, we found differential effects depending on the valance of target facial expressions. Whereas performance accuracy was mainly affected for neutral expressions, performance speed was specifically modulated by emotional expressions indicating some susceptibility of emotional expressions to contextual features. Experiment 3 used two further colour-emotion combinations, but revealed only marginal interference effects most likely due to missing colour-emotion associations. The results are discussed with respect to inherent processing demands of emotional and neutral expressions and their susceptibility to contextual interference.

  20. A novel UBE2A mutation causes X-linked intellectual disability type Nascimento

    PubMed Central

    Tsurusaki, Yoshinori; Ohashi, Ikuko; Enomoto, Yumi; Naruto, Takuya; Mitsui, Jun; Aida, Noriko; Kurosawa, Kenji

    2017-01-01

    X-linked intellectual disability (ID) type Nascimento (MIM #300860), also known as ubiquitin-conjugating enzyme E2 A (UBE2A) deficiency syndrome, is a congenital malformation syndrome characterized by moderate to severe ID, speech impairment, dysmorphic facial features, genital anomalies and skin abnormalities. Here, we report a Japanese patient with severe ID and congenital cataract. We identified a novel hemizygous mutation (c.76G>A, p.Gly26Arg) in UBE2A by whole-exome sequencing. PMID:28611923

  1. Severe dystrophy in DiGeorge syndrome

    PubMed Central

    Rózsai, Barnabás; Kiss, Ákos; Csábi, Györgyi; Czakó, Márta; Decsi, Tamás

    2009-01-01

    We present the case history of a 3-year-old girl who was examined because of severe dystrophy. In the background, cow’s milk allergy was found, but her body weight was unchanged after eliminating milk from her diet. Other types of malabsorption were excluded. Based on nasal regurgitation and facial dysmorphisms, the possibility of DiGeorge syndrome was suspected and was confirmed by fluorescence in situ hybridization. The authors suggest a new feature associated with DiGeorge syndrome. PMID:19294771

  2. Soft-tissue facial characteristics of attractive Chinese men compared to normal men.

    PubMed

    Wu, Feng; Li, Junfang; He, Hong; Huang, Na; Tang, Youchao; Wang, Yuanqing

    2015-01-01

    To compare the facial characteristics of attractive Chinese men with those of reference men. The three-dimensional coordinates of 50 facial landmarks were collected in 40 healthy reference men and in 40 "attractive" men, soft tissue facial angles, distances, areas, and volumes were computed and compared using analysis of variance. When compared with reference men, attractive men shared several similar facial characteristics: relatively large forehead, reduced mandible, and rounded face. They had a more acute soft tissue profile, an increased upper facial width and middle facial depth, larger mouth, and more voluminous lips than reference men. Attractive men had several facial characteristics suggesting babyness. Nonetheless, each group of men was characterized by a different development of these features. Esthetic reference values can be a useful tool for clinicians, but should always consider the characteristics of individual faces.

  3. Multiracial Facial Golden Ratio and Evaluation of Facial Appearance.

    PubMed

    Alam, Mohammad Khursheed; Mohd Noor, Nor Farid; Basri, Rehana; Yew, Tan Fo; Wen, Tay Hui

    2015-01-01

    This study aimed to investigate the association of facial proportion and its relation to the golden ratio with the evaluation of facial appearance among Malaysian population. This was a cross-sectional study with 286 randomly selected from Universiti Sains Malaysia (USM) Health Campus students (150 females and 136 males; 100 Malaysian Chinese, 100 Malaysian Malay and 86 Malaysian Indian), with the mean age of 21.54 ± 1.56 (Age range, 18-25). Facial indices obtained from direct facial measurements were used for the classification of facial shape into short, ideal and long. A validated structured questionnaire was used to assess subjects' evaluation of their own facial appearance. The mean facial indices of Malaysian Indian (MI), Malaysian Chinese (MC) and Malaysian Malay (MM) were 1.59 ± 0.19, 1.57 ± 0.25 and 1.54 ± 0.23 respectively. Only MC showed significant sexual dimorphism in facial index (P = 0.047; P<0.05) but no significant difference was found between races. Out of the 286 subjects, 49 (17.1%) were of ideal facial shape, 156 (54.5%) short and 81 (28.3%) long. The facial evaluation questionnaire showed that MC had the lowest satisfaction with mean score of 2.18 ± 0.97 for overall impression and 2.15 ± 1.04 for facial parts, compared to MM and MI, with mean score of 1.80 ± 0.97 and 1.64 ± 0.74 respectively for overall impression; 1.75 ± 0.95 and 1.70 ± 0.83 respectively for facial parts. 1) Only 17.1% of Malaysian facial proportion conformed to the golden ratio, with majority of the population having short face (54.5%); 2) Facial index did not depend significantly on races; 3) Significant sexual dimorphism was shown among Malaysian Chinese; 4) All three races are generally satisfied with their own facial appearance; 5) No significant association was found between golden ratio and facial evaluation score among Malaysian population.

  4. Multiracial Facial Golden Ratio and Evaluation of Facial Appearance

    PubMed Central

    2015-01-01

    This study aimed to investigate the association of facial proportion and its relation to the golden ratio with the evaluation of facial appearance among Malaysian population. This was a cross-sectional study with 286 randomly selected from Universiti Sains Malaysia (USM) Health Campus students (150 females and 136 males; 100 Malaysian Chinese, 100 Malaysian Malay and 86 Malaysian Indian), with the mean age of 21.54 ± 1.56 (Age range, 18–25). Facial indices obtained from direct facial measurements were used for the classification of facial shape into short, ideal and long. A validated structured questionnaire was used to assess subjects’ evaluation of their own facial appearance. The mean facial indices of Malaysian Indian (MI), Malaysian Chinese (MC) and Malaysian Malay (MM) were 1.59 ± 0.19, 1.57 ± 0.25 and 1.54 ± 0.23 respectively. Only MC showed significant sexual dimorphism in facial index (P = 0.047; P<0.05) but no significant difference was found between races. Out of the 286 subjects, 49 (17.1%) were of ideal facial shape, 156 (54.5%) short and 81 (28.3%) long. The facial evaluation questionnaire showed that MC had the lowest satisfaction with mean score of 2.18 ± 0.97 for overall impression and 2.15 ± 1.04 for facial parts, compared to MM and MI, with mean score of 1.80 ± 0.97 and 1.64 ± 0.74 respectively for overall impression; 1.75 ± 0.95 and 1.70 ± 0.83 respectively for facial parts. In conclusion: 1) Only 17.1% of Malaysian facial proportion conformed to the golden ratio, with majority of the population having short face (54.5%); 2) Facial index did not depend significantly on races; 3) Significant sexual dimorphism was shown among Malaysian Chinese; 4) All three races are generally satisfied with their own facial appearance; 5) No significant association was found between golden ratio and facial evaluation score among Malaysian population. PMID:26562655

  5. The review and results of different methods for facial recognition

    NASA Astrophysics Data System (ADS)

    Le, Yifan

    2017-09-01

    In recent years, facial recognition draws much attention due to its wide potential applications. As a unique technology in Biometric Identification, facial recognition represents a significant improvement since it could be operated without cooperation of people under detection. Hence, facial recognition will be taken into defense system, medical detection, human behavior understanding, etc. Several theories and methods have been established to make progress in facial recognition: (1) A novel two-stage facial landmark localization method is proposed which has more accurate facial localization effect under specific database; (2) A statistical face frontalization method is proposed which outperforms state-of-the-art methods for face landmark localization; (3) It proposes a general facial landmark detection algorithm to handle images with severe occlusion and images with large head poses; (4) There are three methods proposed on Face Alignment including shape augmented regression method, pose-indexed based multi-view method and a learning based method via regressing local binary features. The aim of this paper is to analyze previous work of different aspects in facial recognition, focusing on concrete method and performance under various databases. In addition, some improvement measures and suggestions in potential applications will be put forward.

  6. Prenatal diagnosis of hypoparathyroidism retardation and dysmorphism (HRD) syndrome.

    PubMed

    Hershkovitz, E; Hershkovitz, R; Hertzug, L; Gorodischer, R; Mazor, M; Parvari, R

    2000-06-01

    We used linkage analysis for prenatal diagnosis of the recently reported hypoparathyroidism, retardation, and dysmorphism (HRD) syndrome. Five cases from four families were evaluated. Three fetuses were carriers and were born healthy. Two fetuses were affected but the parents decided not to terminate the pregnancies. The diagnosis of HRD syndrome was confirmed in these newborns. This is the first report about prenatal diagnosis of HRD syndrome. Copyright 2000 John Wiley & Sons, Ltd.

  7. Three-Dimensional Anthropometric Evaluation of Facial Morphology.

    PubMed

    Celebi, Ahmet Arif; Kau, Chung How; Ozaydin, Bunyamin

    2017-07-01

    The objectives of this study were to evaluate sexual dimorphism for facial features within Colombian and Mexican-American populations and to compare the facial morphology by sex between these 2 populations. Three-dimensional facial images were acquired by using the portable 3dMDface system, which captured 223 subjects from 2 population groups of Colombians (n = 131) and Mexican-Americans (n = 92). Each population was categorized into male and female groups for evaluation. All subjects in the groups were aged between 18 and 30 years and had no apparent facial anomalies. A total of 21 anthropometric landmarks were identified on the 3-dimensional faces of each subject. The independent t test was used to analyze each data set obtained within each subgroup. The Colombian males showed significantly greater width of the outercanthal width, eye fissure length, and orbitale than the Colombian females. The Colombian females had significantly smaller lip and mouth measurements for all distances except upper vermillion height than Colombian males. The Mexican-American females had significantly smaller measurements with regard to the nose than Mexican-American males. Meanwhile, the heights of the face, the upper face, the lower face, and the mandible were all significantly less in the Mexican-American females. The intercanthal and outercanthal widths were significantly greater in the Mexican-American males and females. Meanwhile, the orbitale distance of Mexican-American sexes was significantly smaller than those of the Colombian males and females. The Mexican-American group had significantly larger nose width and length of alare than the Colombian group regarding both sexes. With respect to the nasal tip protrusion and nose height, they were significantly smaller in the Colombian females than in the Mexican-American females. The face width was significantly greater in the Colombian males and females. Sexual dimorphism for facial features was presented in both the

  8. Coding and quantification of a facial expression for pain in lambs.

    PubMed

    Guesgen, M J; Beausoleil, N J; Leach, M; Minot, E O; Stewart, M; Stafford, K J

    2016-11-01

    Facial expressions are routinely used to assess pain in humans, particularly those who are non-verbal. Recently, there has been an interest in developing coding systems for facial grimacing in non-human animals, such as rodents, rabbits, horses and sheep. The aims of this preliminary study were to: 1. Qualitatively identify facial feature changes in lambs experiencing pain as a result of tail-docking and compile these changes to create a Lamb Grimace Scale (LGS); 2. Determine whether human observers can use the LGS to differentiate tail-docked lambs from control lambs and differentiate lambs before and after docking; 3. Determine whether changes in facial action units of the LGS can be objectively quantified in lambs before and after docking; 4. Evaluate effects of restraint of lambs on observers' perceptions of pain using the LGS and on quantitative measures of facial action units. By comparing images of lambs before (no pain) and after (pain) tail-docking, the LGS was devised in consultation with scientists experienced in assessing facial expression in other species. The LGS consists of five facial action units: Orbital Tightening, Mouth Features, Nose Features, Cheek Flattening and Ear Posture. The aims of the study were addressed in two experiments. In Experiment I, still images of the faces of restrained lambs were taken from video footage before and after tail-docking (n=4) or sham tail-docking (n=3). These images were scored by a group of five naïve human observers using the LGS. Because lambs were restrained for the duration of the experiment, Ear Posture was not scored. The scores for the images were averaged to provide one value per feature per period and then scores for the four LGS action units were averaged to give one LGS score per lamb per period. In Experiment II, still images of the faces nine lambs were taken before and after tail-docking. Stills were taken when lambs were restrained and unrestrained in each period. A different group of five

  9. Facial Expression Recognition with Fusion Features Extracted from Salient Facial Areas.

    PubMed

    Liu, Yanpeng; Li, Yibin; Ma, Xin; Song, Rui

    2017-03-29

    In the pattern recognition domain, deep architectures are currently widely used and they have achieved fine results. However, these deep architectures make particular demands, especially in terms of their requirement for big datasets and GPU. Aiming to gain better results without deep networks, we propose a simplified algorithm framework using fusion features extracted from the salient areas of faces. Furthermore, the proposed algorithm has achieved a better result than some deep architectures. For extracting more effective features, this paper firstly defines the salient areas on the faces. This paper normalizes the salient areas of the same location in the faces to the same size; therefore, it can extracts more similar features from different subjects. LBP and HOG features are extracted from the salient areas, fusion features' dimensions are reduced by Principal Component Analysis (PCA) and we apply several classifiers to classify the six basic expressions at once. This paper proposes a salient areas definitude method which uses peak expressions frames compared with neutral faces. This paper also proposes and applies the idea of normalizing the salient areas to align the specific areas which express the different expressions. As a result, the salient areas found from different subjects are the same size. In addition, the gamma correction method is firstly applied on LBP features in our algorithm framework which improves our recognition rates significantly. By applying this algorithm framework, our research has gained state-of-the-art performances on CK+ database and JAFFE database.

  10. Familiarity effects in the construction of facial-composite images using modern software systems.

    PubMed

    Frowd, Charlie D; Skelton, Faye C; Butt, Neelam; Hassan, Amal; Fields, Stephen; Hancock, Peter J B

    2011-12-01

    We investigate the effect of target familiarity on the construction of facial composites, as used by law enforcement to locate criminal suspects. Two popular software construction methods were investigated. Participants were shown a target face that was either familiar or unfamiliar to them and constructed a composite of it from memory using a typical 'feature' system, involving selection of individual facial features, or one of the newer 'holistic' types, involving repeated selection and breeding from arrays of whole faces. This study found that composites constructed of a familiar face were named more successfully than composites of an unfamiliar face; also, naming of composites of internal and external features was equivalent for construction of unfamiliar targets, but internal features were better named than the external features for familiar targets. These findings applied to both systems, although benefit emerged for the holistic type due to more accurate construction of internal features and evidence for a whole-face advantage. STATEMENT OF RELEVANCE: This work is of relevance to practitioners who construct facial composites with witnesses to and victims of crime, as well as for software designers to help them improve the effectiveness of their composite systems.

  11. Traumatic facial nerve neuroma with facial palsy presenting in infancy.

    PubMed

    Clark, James H; Burger, Peter C; Boahene, Derek Kofi; Niparko, John K

    2010-07-01

    To describe the management of traumatic neuroma of the facial nerve in a child and literature review. Sixteen-month-old male subject. Radiological imaging and surgery. Facial nerve function. The patient presented at 16 months with a right facial palsy and was found to have a right facial nerve traumatic neuroma. A transmastoid, middle fossa resection of the right facial nerve lesion was undertaken with a successful facial nerve-to-hypoglossal nerve anastomosis. The facial palsy improved postoperatively. A traumatic neuroma should be considered in an infant who presents with facial palsy, even in the absence of an obvious history of trauma. The treatment of such lesion is complex in any age group but especially in young children. Symptoms, age, lesion size, growth rate, and facial nerve function determine the appropriate management.

  12. Improving the Quality of Facial Composites Using a Holistic Cognitive Interview

    ERIC Educational Resources Information Center

    Frowd, Charlie D.; Bruce, Vicki; Smith, Ashley J.; Hancock, Peter J. B.

    2008-01-01

    Witnesses to and victims of serious crime are normally asked to describe the appearance of a criminal suspect, using a Cognitive Interview (CI), and to construct a facial composite, a visual representation of the face. Research suggests that focusing on the global aspects of a face, as opposed to its facial features, facilitates recognition and…

  13. Body dysmorphic disorder in aesthetic rhinoplasty candidates.

    PubMed

    Mr, Fathololoomi; Tabrizi A, Goljanian; Bafghi A, Fattahi; Sa, Noohi; A, Makhdoom

    2013-01-01

    Body Dysmorphic Disorder (BDD) is a psychiatric disorder defined as obsessive ideas about distorted physical appearance, leading to social, professional and personal dysfunction. Many of these patients seek aesthetic surgery and are generally dissatisfied with the outcome of their surgery. In the present study patients coming to the otolaryngology clinic of Thaleghani Hospital in Tehran seeking rhinoplasty were evaluated. Between October 2010 and October 2011, 130 patients seeking rhinoplasty were recruited in a cross-sectional study. These patients were consecutively interviewed in the otolaryngology clinic of Taleghani Hospital, Tehran, Iran. Questionnaires were filled containing demographic data. BDD was evaluated by a separate questionnaire. Hospital Anxiety and Depression Scale (HADS) questionnaire was filled to evaluate depression and anxiety. Data were analyzed by using SPSS software. The frequency and standard deviations were calculated. Differences between groups were evaluated by using the chi-square, and t-tests. Ninety nine (76.2%) of rhinoplasty candidates were female and thirty one (23.8%) were male. Eighty five (65.4%) were single and thirty eight (29.2%) were married while seven were divorced. About 63.8% were University students or University graduates. Mean age was 26.43±6.29 years old. 41 patients (31.5%) had BDD. Among BDD patients 12 (29.3%) had concurrent depression and 11 (26.8%) had concurrent anxiety. No statistically significant correlation was found between the presence or severity of BDD and age, gender, marital status, level of education and profession. Considering the high prevalence of Body Dysmorphic Disorder (BDD) among rhinoplasty candidates, psychiatric evaluation is advisable before surgery to avoid unnecessary operations and patient dissatisfaction.

  14. Geometric facial comparisons in speed-check photographs.

    PubMed

    Buck, Ursula; Naether, Silvio; Kreutz, Kerstin; Thali, Michael

    2011-11-01

    In many cases, it is not possible to call the motorists to account for their considerable excess in speeding, because they deny being the driver on the speed-check photograph. An anthropological comparison of facial features using a photo-to-photo comparison can be very difficult depending on the quality of the photographs. One difficulty of that analysis method is that the comparison photographs of the presumed driver are taken with a different camera or camera lens and from a different angle than for the speed-check photo. To take a comparison photograph with exactly the same camera setup is almost impossible. Therefore, only an imprecise comparison of the individual facial features is possible. The geometry and position of each facial feature, for example the distances between the eyes or the positions of the ears, etc., cannot be taken into consideration. We applied a new method using 3D laser scanning, optical surface digitalization, and photogrammetric calculation of the speed-check photo, which enables a geometric comparison. Thus, the influence of the focal length and the distortion of the objective lens are eliminated and the precise position and the viewing direction of the speed-check camera are calculated. Even in cases of low-quality images or when the face of the driver is partly hidden, good results are delivered using this method. This new method, Geometric Comparison, is evaluated and validated in a prepared study which is described in this article.

  15. Joint Patch and Multi-label Learning for Facial Action Unit Detection

    PubMed Central

    Zhao, Kaili; Chu, Wen-Sheng; De la Torre, Fernando; Cohn, Jeffrey F.; Zhang, Honggang

    2016-01-01

    The face is one of the most powerful channel of nonverbal communication. The most commonly used taxonomy to describe facial behaviour is the Facial Action Coding System (FACS). FACS segments the visible effects of facial muscle activation into 30+ action units (AUs). AUs, which may occur alone and in thousands of combinations, can describe nearly all-possible facial expressions. Most existing methods for automatic AU detection treat the problem using one-vs-all classifiers and fail to exploit dependencies among AU and facial features. We introduce joint-patch and multi-label learning (JPML) to address these issues. JPML leverages group sparsity by selecting a sparse subset of facial patches while learning a multi-label classifier. In four of five comparisons on three diverse datasets, CK+, GFT, and BP4D, JPML produced the highest average F1 scores in comparison with state-of-the art. PMID:27382243

  16. A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans

    PubMed Central

    Liu, Fan; van der Lijn, Fedde; Schurmann, Claudia; Zhu, Gu; Chakravarty, M. Mallar; Hysi, Pirro G.; Wollstein, Andreas; Lao, Oscar; de Bruijne, Marleen; Ikram, M. Arfan; van der Lugt, Aad; Rivadeneira, Fernando; Uitterlinden, André G.; Hofman, Albert; Niessen, Wiro J.; Homuth, Georg; de Zubicaray, Greig; McMahon, Katie L.; Thompson, Paul M.; Daboul, Amro; Puls, Ralf; Hegenscheid, Katrin; Bevan, Liisa; Pausova, Zdenka; Medland, Sarah E.; Montgomery, Grant W.; Wright, Margaret J.; Wicking, Carol; Boehringer, Stefan; Spector, Timothy D.; Paus, Tomáš; Martin, Nicholas G.; Biffar, Reiner; Kayser, Manfred

    2012-01-01

    Inter-individual variation in facial shape is one of the most noticeable phenotypes in humans, and it is clearly under genetic regulation; however, almost nothing is known about the genetic basis of normal human facial morphology. We therefore conducted a genome-wide association study for facial shape phenotypes in multiple discovery and replication cohorts, considering almost ten thousand individuals of European descent from several countries. Phenotyping of facial shape features was based on landmark data obtained from three-dimensional head magnetic resonance images (MRIs) and two-dimensional portrait images. We identified five independent genetic loci associated with different facial phenotypes, suggesting the involvement of five candidate genes—PRDM16, PAX3, TP63, C5orf50, and COL17A1—in the determination of the human face. Three of them have been implicated previously in vertebrate craniofacial development and disease, and the remaining two genes potentially represent novel players in the molecular networks governing facial development. Our finding at PAX3 influencing the position of the nasion replicates a recent GWAS of facial features. In addition to the reported GWA findings, we established links between common DNA variants previously associated with NSCL/P at 2p21, 8q24, 13q31, and 17q22 and normal facial-shape variations based on a candidate gene approach. Overall our study implies that DNA variants in genes essential for craniofacial development contribute with relatively small effect size to the spectrum of normal variation in human facial morphology. This observation has important consequences for future studies aiming to identify more genes involved in the human facial morphology, as well as for potential applications of DNA prediction of facial shape such as in future forensic applications. PMID:23028347

  17. Soft-tissue facial characteristics of attractive Chinese men compared to normal men

    PubMed Central

    Wu, Feng; Li, Junfang; He, Hong; Huang, Na; Tang, Youchao; Wang, Yuanqing

    2015-01-01

    Objective: To compare the facial characteristics of attractive Chinese men with those of reference men. Materials and Methods: The three-dimensional coordinates of 50 facial landmarks were collected in 40 healthy reference men and in 40 “attractive” men, soft tissue facial angles, distances, areas, and volumes were computed and compared using analysis of variance. Results: When compared with reference men, attractive men shared several similar facial characteristics: relatively large forehead, reduced mandible, and rounded face. They had a more acute soft tissue profile, an increased upper facial width and middle facial depth, larger mouth, and more voluminous lips than reference men. Conclusions: Attractive men had several facial characteristics suggesting babyness. Nonetheless, each group of men was characterized by a different development of these features. Esthetic reference values can be a useful tool for clinicians, but should always consider the characteristics of individual faces. PMID:26221357

  18. Body dysmorphic factors and mental health problems in people seeking rhinoplastic surgery.

    PubMed

    Javanbakht, M; Nazari, A; Javanbakht, A; Moghaddam, L

    2012-02-01

    There has been increasing number of requests for cosmetic rhinoplastic surgery among Iranian people in different age groups in recent years. One risk for people who undergo such plastic operations is the presence of body dysmorphic disorder (BDD), which can complicate the result and decrease the rate of satisfaction from surgery. This study aimed to investigate mental health problems in people seeking rhinoplastic surgery. In this case-control study, the scores of General Health Questionnaire (GHQ) and DCQ (Dysmorphic Concerns Questionnaire) were obtained from 50 individuals who were candidates for rhinoplasty, and the results were compared with a normal control group. The total GHQ score and scores in anxiety, depression, and social dysfunction sub-scales were higher among the study group. This was the same for the DCQ score. However, the scores of somatization sub-scale of GHQ were not significantly different between the two groups. Psychiatric evaluation of candidates for rhinoplasty seems necessary for prevention of unnecessary and repetitive surgical operations.

  19. Spontaneous Facial Mimicry in Response to Dynamic Facial Expressions

    ERIC Educational Resources Information Center

    Sato, Wataru; Yoshikawa, Sakiko

    2007-01-01

    Based on previous neuroscientific evidence indicating activation of the mirror neuron system in response to dynamic facial actions, we hypothesized that facial mimicry would occur while subjects viewed dynamic facial expressions. To test this hypothesis, dynamic/static facial expressions of anger/happiness were presented using computer-morphing…

  20. Dissociable roles of internal feelings and face recognition ability in facial expression decoding.

    PubMed

    Zhang, Lin; Song, Yiying; Liu, Ling; Liu, Jia

    2016-05-15

    The problem of emotion recognition has been tackled by researchers in both affective computing and cognitive neuroscience. While affective computing relies on analyzing visual features from facial expressions, it has been proposed that humans recognize emotions by internally simulating the emotional states conveyed by others' expressions, in addition to perceptual analysis of facial features. Here we investigated whether and how our internal feelings contributed to the ability to decode facial expressions. In two independent large samples of participants, we observed that individuals who generally experienced richer internal feelings exhibited a higher ability to decode facial expressions, and the contribution of internal feelings was independent of face recognition ability. Further, using voxel-based morphometry, we found that the gray matter volume (GMV) of bilateral superior temporal sulcus (STS) and the right inferior parietal lobule was associated with facial expression decoding through the mediating effect of internal feelings, while the GMV of bilateral STS, precuneus, and the right central opercular cortex contributed to facial expression decoding through the mediating effect of face recognition ability. In addition, the clusters in bilateral STS involved in the two components were neighboring yet separate. Our results may provide clues about the mechanism by which internal feelings, in addition to face recognition ability, serve as an important instrument for humans in facial expression decoding. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Aspects of Facial Contrast Decrease with Age and Are Cues for Age Perception

    PubMed Central

    Porcheron, Aurélie; Mauger, Emmanuelle; Russell, Richard

    2013-01-01

    Age is a primary social dimension. We behave differently toward people as a function of how old we perceive them to be. Age perception relies on cues that are correlated with age, such as wrinkles. Here we report that aspects of facial contrast–the contrast between facial features and the surrounding skin–decreased with age in a large sample of adult Caucasian females. These same aspects of facial contrast were also significantly correlated with the perceived age of the faces. Individual faces were perceived as younger when these aspects of facial contrast were artificially increased, but older when these aspects of facial contrast were artificially decreased. These findings show that facial contrast plays a role in age perception, and that faces with greater facial contrast look younger. Because facial contrast is increased by typical cosmetics use, we infer that cosmetics function in part by making the face appear younger. PMID:23483959

  2. The Eyes Have It: Young Children's Discrimination of Age in Masked and Unmasked Facial Photographs.

    ERIC Educational Resources Information Center

    Jones, Gillian; Smith, Peter K.

    1984-01-01

    Investigates preschool children's ability (n = 30) to discriminate age, and subject's use of different facial areas in ranking facial photographs into age order. Results indicate subjects from 3 to 9 years can successfully rank the photos. Compared with other facial features, the eye region was most important for success in the age ranking task.…

  3. Intact Rapid Facial Mimicry as well as Generally Reduced Mimic Responses in Stable Schizophrenia Patients

    PubMed Central

    Chechko, Natalya; Pagel, Alena; Otte, Ellen; Koch, Iring; Habel, Ute

    2016-01-01

    Spontaneous emotional expressions (rapid facial mimicry) perform both emotional and social functions. In the current study, we sought to test whether there were deficits in automatic mimic responses to emotional facial expressions in patients (15 of them) with stable schizophrenia compared to 15 controls. In a perception-action interference paradigm (the Simon task; first experiment), and in the context of a dual-task paradigm (second experiment), the task-relevant stimulus feature was the gender of a face, which, however, displayed a smiling or frowning expression (task-irrelevant stimulus feature). We measured the electromyographical activity in the corrugator supercilii and zygomaticus major muscle regions in response to either compatible or incompatible stimuli (i.e., when the required response did or did not correspond to the depicted facial expression). The compatibility effect based on interactions between the implicit processing of a task-irrelevant emotional facial expression and the conscious production of an emotional facial expression did not differ between the groups. In stable patients (in spite of a reduced mimic reaction), we observed an intact capacity to respond spontaneously to facial emotional stimuli. PMID:27303335

  4. Shy children are less sensitive to some cues to facial recognition.

    PubMed

    Brunet, Paul M; Mondloch, Catherine J; Schmidt, Louis A

    2010-02-01

    Temperamental shyness in children is characterized by avoidance of faces and eye contact, beginning in infancy. We conducted two studies to determine whether temperamental shyness was associated with deficits in sensitivity to some cues to facial identity. In Study 1, 40 typically developing 10-year-old children made same/different judgments about pairs of faces that differed in the appearance of individual features, the shape of the external contour, or the spacing among features; their parent completed the Colorado childhood temperament inventory (CCTI). Children who scored higher on CCTI shyness made more errors than their non-shy counterparts only when discriminating faces based on the spacing of features. Differences in accuracy were not related to other scales of the CCTI. In Study 2, we showed that these differences were face-specific and cannot be attributed to differences in task difficulty. Findings suggest that shy children are less sensitive to some cues to facial recognition possibly underlying their inability to distinguish certain facial emotions in others, leading to a cascade of secondary negative effects in social behaviour.

  5. Cues of Fatigue: Effects of Sleep Deprivation on Facial Appearance

    PubMed Central

    Sundelin, Tina; Lekander, Mats; Kecklund, Göran; Van Someren, Eus J. W.; Olsson, Andreas; Axelsson, John

    2013-01-01

    Study Objective: To investigate the facial cues by which one recognizes that someone is sleep deprived versus not sleep deprived. Design: Experimental laboratory study. Setting: Karolinska Institutet, Stockholm, Sweden. Participants: Forty observers (20 women, mean age 25 ± 5 y) rated 20 facial photographs with respect to fatigue, 10 facial cues, and sadness. The stimulus material consisted of 10 individuals (five women) photographed at 14:30 after normal sleep and after 31 h of sleep deprivation following a night with 5 h of sleep. Measurements: Ratings of fatigue, fatigue-related cues, and sadness in facial photographs. Results: The faces of sleep deprived individuals were perceived as having more hanging eyelids, redder eyes, more swollen eyes, darker circles under the eyes, paler skin, more wrinkles/fine lines, and more droopy corners of the mouth (effects ranging from b = +3 ± 1 to b = +15 ± 1 mm on 100-mm visual analog scales, P < 0.01). The ratings of fatigue were related to glazed eyes and to all the cues affected by sleep deprivation (P < 0.01). Ratings of rash/eczema or tense lips were not significantly affected by sleep deprivation, nor associated with judgements of fatigue. In addition, sleep-deprived individuals looked sadder than after normal sleep, and sadness was related to looking fatigued (P < 0.01). Conclusions: The results show that sleep deprivation affects features relating to the eyes, mouth, and skin, and that these features function as cues of sleep loss to other people. Because these facial regions are important in the communication between humans, facial cues of sleep deprivation and fatigue may carry social consequences for the sleep deprived individual in everyday life. Citation: Sundelin T; Lekander M; Kecklund G; Van Someren EJW; Olsson A; Axelsson J. Cues of fatigue: effects of sleep deprivation on facial appearance. SLEEP 2013;36(9):1355-1360. PMID:23997369

  6. Estimation of human emotions using thermal facial information

    NASA Astrophysics Data System (ADS)

    Nguyen, Hung; Kotani, Kazunori; Chen, Fan; Le, Bac

    2014-01-01

    In recent years, research on human emotion estimation using thermal infrared (IR) imagery has appealed to many researchers due to its invariance to visible illumination changes. Although infrared imagery is superior to visible imagery in its invariance to illumination changes and appearance differences, it has difficulties in handling transparent glasses in the thermal infrared spectrum. As a result, when using infrared imagery for the analysis of human facial information, the regions of eyeglasses are dark and eyes' thermal information is not given. We propose a temperature space method to correct eyeglasses' effect using the thermal facial information in the neighboring facial regions, and then use Principal Component Analysis (PCA), Eigen-space Method based on class-features (EMC), and PCA-EMC method to classify human emotions from the corrected thermal images. We collected the Kotani Thermal Facial Emotion (KTFE) database and performed the experiments, which show the improved accuracy rate in estimating human emotions.

  7. Relative relationships of general shame and body shame with body dysmorphic phenomenology and psychosocial outcomes.

    PubMed

    Weingarden, Hilary; Renshaw, Keith D; Davidson, Eliza; Wilhelm, Sabine

    2017-07-01

    Body Dysmorphic Disorder (BDD) is characterized by a preoccupation with a perceived flaw in appearance and repetitive avoidance behaviors. BDD involves severe psychosocial outcomes (e.g., depression, suicidality, functional impairment). Identifying correlates of BDD symptoms and outcomes can inform treatment. Shame, a painful emotion felt in response to critical self-judgment, may be one key correlate. However, research on shame in BDD is scarce and previous studies have not distinguished general shame from body shame. This study examines the relative relationships between body shame and general shame with body dysmorphic phenomenology and psychosocial outcomes. Participants ( N = 184) were recruited online via BDD organizations and completed a survey. Path analysis was used to examine associations between body and general shame with 1) body dysmorphic phenomenology and 2) depression severity, suicide risk, and functional impairment. Both types of shame were differentially related to outcomes. Body shame was more strongly related to phenomenology, whereas general shame was more strongly related to psychosocial outcomes. Thus, it may be important for BDD treatment to focus on reducing both general and body shame. Further research should evaluate whether current treatments adequately address and reduce general and body shame, and whether addressing shame promotes better treatment outcomes.

  8. Facial soft tissue thickness in skeletal type I Japanese children.

    PubMed

    Utsuno, Hajime; Kageyama, Toru; Deguchi, Toshio; Umemura, Yasunobu; Yoshino, Mineo; Nakamura, Hiroshi; Miyazawa, Hiroo; Inoue, Katsuhiro

    2007-10-25

    Facial reconstruction techniques used in forensic anthropology require knowledge of the facial soft tissue thickness of each race if facial features are to be reconstructed correctly. If this is inaccurate, so also will be the reconstructed face. Knowledge of differences by age and sex are also required. Therefore, when unknown human skeletal remains are found, the forensic anthropologist investigates for race, sex, and age, and for other variables of relevance. Cephalometric X-ray images of living persons can help to provide this information. They give an approximately 10% enlargement from true size and can demonstrate the relationship between soft and hard tissue. In the present study, facial soft tissue thickness in Japanese children was measured at 12 anthropological points using X-ray cephalometry in order to establish a database for facial soft tissue thickness. This study of both boys and girls, aged from 6 to 18 years, follows a previous study of Japanese female children only, and focuses on facial soft tissue thickness in only one skeletal type. Sex differences in thickness of tissue were found from 12 years of age upwards. The study provides more detailed and accurate measurements than past reports of facial soft tissue thickness, and reveals the uniqueness of the Japanese child's facial profile.

  9. Facial movements strategically camouflage involuntary social signals of face morphology.

    PubMed

    Gill, Daniel; Garrod, Oliver G B; Jack, Rachael E; Schyns, Philippe G

    2014-05-01

    Animals use social camouflage as a tool of deceit to increase the likelihood of survival and reproduction. We tested whether humans can also strategically deploy transient facial movements to camouflage the default social traits conveyed by the phenotypic morphology of their faces. We used the responses of 12 observers to create models of the dynamic facial signals of dominance, trustworthiness, and attractiveness. We applied these dynamic models to facial morphologies differing on perceived dominance, trustworthiness, and attractiveness to create a set of dynamic faces; new observers rated each dynamic face according to the three social traits. We found that specific facial movements camouflage the social appearance of a face by modulating the features of phenotypic morphology. A comparison of these facial expressions with those similarly derived for facial emotions showed that social-trait expressions, rather than being simple one-to-one overgeneralizations of emotional expressions, are a distinct set of signals composed of movements from different emotions. Our generative face models represent novel psychophysical laws for social sciences; these laws predict the perception of social traits on the basis of dynamic face identities.

  10. An oral clinical approach to Gorlin-Goltz syndrome.

    PubMed

    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.

  11. Novel dynamic Bayesian networks for facial action element recognition and understanding

    NASA Astrophysics Data System (ADS)

    Zhao, Wei; Park, Jeong-Seon; Choi, Dong-You; Lee, Sang-Woong

    2011-12-01

    In daily life, language is an important tool of communication between people. Besides language, facial action can also provide a great amount of information. Therefore, facial action recognition has become a popular research topic in the field of human-computer interaction (HCI). However, facial action recognition is quite a challenging task due to its complexity. In a literal sense, there are thousands of facial muscular movements, many of which have very subtle differences. Moreover, muscular movements always occur simultaneously when the pose is changed. To address this problem, we first build a fully automatic facial points detection system based on a local Gabor filter bank and principal component analysis. Then, novel dynamic Bayesian networks are proposed to perform facial action recognition using the junction tree algorithm over a limited number of feature points. In order to evaluate the proposed method, we have used the Korean face database for model training. For testing, we used the CUbiC FacePix, facial expressions and emotion database, Japanese female facial expression database, and our own database. Our experimental results clearly demonstrate the feasibility of the proposed approach.

  12. Facial anthropometric differences among gender, ethnicity, and age groups.

    PubMed

    Zhuang, Ziqing; Landsittel, Douglas; Benson, Stacey; Roberge, Raymond; Shaffer, Ronald

    2010-06-01

    The impact of race/ethnicity upon facial anthropometric data in the US workforce, on the development of personal protective equipment, has not been investigated to any significant degree. The proliferation of minority populations in the US workforce has increased the need to investigate differences in facial dimensions among these workers. The objective of this study was to determine the face shape and size differences among race and age groups from the National Institute for Occupational Safety and Health survey of 3997 US civilian workers. Survey participants were divided into two gender groups, four racial/ethnic groups, and three age groups. Measurements of height, weight, neck circumference, and 18 facial dimensions were collected using traditional anthropometric techniques. A multivariate analysis of the data was performed using Principal Component Analysis. An exploratory analysis to determine the effect of different demographic factors had on anthropometric features was assessed via a linear model. The 21 anthropometric measurements, body mass index, and the first and second principal component scores were dependent variables, while gender, ethnicity, age, occupation, weight, and height served as independent variables. Gender significantly contributes to size for 19 of 24 dependent variables. African-Americans have statistically shorter, wider, and shallower noses than Caucasians. Hispanic workers have 14 facial features that are significantly larger than Caucasians, while their nose protrusion, height, and head length are significantly shorter. The other ethnic group was composed primarily of Asian subjects and has statistically different dimensions from Caucasians for 16 anthropometric values. Nineteen anthropometric values for subjects at least 45 years of age are statistically different from those measured for subjects between 18 and 29 years of age. Workers employed in manufacturing, fire fighting, healthcare, law enforcement, and other occupational

  13. Automatic Facial Expression Recognition and Operator Functional State

    NASA Technical Reports Server (NTRS)

    Blanson, Nina

    2012-01-01

    The prevalence of human error in safety-critical occupations remains a major challenge to mission success despite increasing automation in control processes. Although various methods have been proposed to prevent incidences of human error, none of these have been developed to employ the detection and regulation of Operator Functional State (OFS), or the optimal condition of the operator while performing a task, in work environments due to drawbacks such as obtrusiveness and impracticality. A video-based system with the ability to infer an individual's emotional state from facial feature patterning mitigates some of the problems associated with other methods of detecting OFS, like obtrusiveness and impracticality in integration with the mission environment. This paper explores the utility of facial expression recognition as a technology for inferring OFS by first expounding on the intricacies of OFS and the scientific background behind emotion and its relationship with an individual's state. Then, descriptions of the feedback loop and the emotion protocols proposed for the facial recognition program are explained. A basic version of the facial expression recognition program uses Haar classifiers and OpenCV libraries to automatically locate key facial landmarks during a live video stream. Various methods of creating facial expression recognition software are reviewed to guide future extensions of the program. The paper concludes with an examination of the steps necessary in the research of emotion and recommendations for the creation of an automatic facial expression recognition program for use in real-time, safety-critical missions

  14. Automatic Facial Expression Recognition and Operator Functional State

    NASA Technical Reports Server (NTRS)

    Blanson, Nina

    2011-01-01

    The prevalence of human error in safety-critical occupations remains a major challenge to mission success despite increasing automation in control processes. Although various methods have been proposed to prevent incidences of human error, none of these have been developed to employ the detection and regulation of Operator Functional State (OFS), or the optimal condition of the operator while performing a task, in work environments due to drawbacks such as obtrusiveness and impracticality. A video-based system with the ability to infer an individual's emotional state from facial feature patterning mitigates some of the problems associated with other methods of detecting OFS, like obtrusiveness and impracticality in integration with the mission environment. This paper explores the utility of facial expression recognition as a technology for inferring OFS by first expounding on the intricacies of OFS and the scientific background behind emotion and its relationship with an individual's state. Then, descriptions of the feedback loop and the emotion protocols proposed for the facial recognition program are explained. A basic version of the facial expression recognition program uses Haar classifiers and OpenCV libraries to automatically locate key facial landmarks during a live video stream. Various methods of creating facial expression recognition software are reviewed to guide future extensions of the program. The paper concludes with an examination of the steps necessary in the research of emotion and recommendations for the creation of an automatic facial expression recognition program for use in real-time, safety-critical missions.

  15. The role of great auricular-facial nerve neurorrhaphy in facial nerve damage.

    PubMed

    Sun, Yan; Liu, Limei; Han, Yuechen; Xu, Lei; Zhang, Daogong; Wang, Haibo

    2015-01-01

    Facial nerve is easy to be damaged, and there are many reconstructive methods for facial nerve reconstructive, such as facial nerve end to end anastomosis, the great auricular nerve graft, the sural nerve graft, or hypoglossal-facial nerve anastomosis. However, there is still little study about great auricular-facial nerve neurorrhaphy. The aim of the present study was to identify the role of great auricular-facial nerve neurorrhaphy and the mechanism. Rat models of facial nerve cut (FC), facial nerve end to end anastomosis (FF), facial-great auricular neurorrhaphy (FG), and control (Ctrl) were established. Apex nasi amesiality observation, electrophysiology and immunofluorescence assays were employed to investigate the function and mechanism. In apex nasi amesiality observation, it was found apex nasi amesiality of FG group was partly recovered. Additionally, electrophysiology and immunofluorescence assays revealed that facial-great auricular neurorrhaphy could transfer nerve impulse and express AChR which was better than facial nerve cut and worse than facial nerve end to end anastomosis. The present study indicated that great auricular-facial nerve neurorrhaphy is a substantial solution for facial lesion repair, as it is efficiently preventing facial muscles atrophy by generating neurotransmitter like ACh.

  16. A Real-Time Interactive System for Facial Makeup of Peking Opera

    NASA Astrophysics Data System (ADS)

    Cai, Feilong; Yu, Jinhui

    In this paper we present a real-time interactive system for making facial makeup of Peking Opera. First, we analyze the process of drawing facial makeup and characteristics of the patterns used in it, and then construct a SVG pattern bank based on local features like eye, nose, mouth, etc. Next, we pick up some SVG patterns from the pattern bank and composed them to make a new facial makeup. We offer a vector-based free form deformation (FFD) tool to edit patterns and, based on editing, our system creates automatically texture maps for a template head model. Finally, the facial makeup is rendered on the 3D head model in real time. Our system offers flexibility in designing and synthesizing various 3D facial makeup. Potential applications of the system include decoration design, digital museum exhibition and education of Peking Opera.

  17. Penile Dysmorphic Disorder: Development of a Screening Scale.

    PubMed

    Veale, David; Miles, Sarah; Read, Julie; Troglia, Andrea; Carmona, Lina; Fiorito, Chiara; Wells, Hannah; Wylie, Kevan; Muir, Gordon

    2015-11-01

    Penile dysmorphic disorder (PDD) is shorthand for men diagnosed with body dysmorphic disorder, in whom the size or shape of the penis is their main, if not their exclusive, preoccupation causing significant shame or handicap. There are no specific measures for identifying men with PDD compared to men who are anxious about the size of their penis but do not have PDD. Such a measure might be helpful for treatment planning, reducing unrealistic expectations, and measuring outcome after any psychological or physical intervention. Our aim was, therefore, to validate a specific measure, termed the Cosmetic Procedure Screening Scale for PDD (COPS-P). Eighty-one male participants were divided into three groups: a PDD group (n = 21), a small penis anxiety group (n = 37), and a control group (n = 23). All participants completed the COPS-P as well as standardized measures of depression, anxiety, social phobia, body image, quality of life, and erectile function. Penis size was also measured. The final COPS-P was based on nine items. The scale had good internal reliability and significant convergent validity with measures of related constructs. It discriminated between the PDD group, the small penis anxiety group, and the control group. This is the first study to develop a scale able to discriminate between those with PDD and men anxious about their size who did not have PDD. Clinicians and researchers may use the scale as part of an assessment for men presenting with anxiety about penis size and as an audit or outcome measure after any intervention for this population.

  18. Human Facial Expressions as Adaptations:Evolutionary Questions in Facial Expression Research

    PubMed Central

    SCHMIDT, KAREN L.; COHN, JEFFREY F.

    2007-01-01

    The importance of the face in social interaction and social intelligence is widely recognized in anthropology. Yet the adaptive functions of human facial expression remain largely unknown. An evolutionary model of human facial expression as behavioral adaptation can be constructed, given the current knowledge of the phenotypic variation, ecological contexts, and fitness consequences of facial behavior. Studies of facial expression are available, but results are not typically framed in an evolutionary perspective. This review identifies the relevant physical phenomena of facial expression and integrates the study of this behavior with the anthropological study of communication and sociality in general. Anthropological issues with relevance to the evolutionary study of facial expression include: facial expressions as coordinated, stereotyped behavioral phenotypes, the unique contexts and functions of different facial expressions, the relationship of facial expression to speech, the value of facial expressions as signals, and the relationship of facial expression to social intelligence in humans and in nonhuman primates. Human smiling is used as an example of adaptation, and testable hypotheses concerning the human smile, as well as other expressions, are proposed. PMID:11786989

  19. Event-related theta synchronization predicts deficit in facial affect recognition in schizophrenia.

    PubMed

    Csukly, Gábor; Stefanics, Gábor; Komlósi, Sarolta; Czigler, István; Czobor, Pál

    2014-02-01

    Growing evidence suggests that abnormalities in the synchronized oscillatory activity of neurons in schizophrenia may lead to impaired neural activation and temporal coding and thus lead to neurocognitive dysfunctions, such as deficits in facial affect recognition. To gain an insight into the neurobiological processes linked to facial affect recognition, we investigated both induced and evoked oscillatory activity by calculating the Event Related Spectral Perturbation (ERSP) and the Inter Trial Coherence (ITC) during facial affect recognition. Fearful and neutral faces as well as nonface patches were presented to 24 patients with schizophrenia and 24 matched healthy controls while EEG was recorded. The participants' task was to recognize facial expressions. Because previous findings with healthy controls showed that facial feature decoding was associated primarily with oscillatory activity in the theta band, we analyzed ERSP and ITC in this frequency band in the time interval of 140-200 ms, which corresponds to the N170 component. Event-related theta activity and phase-locking to facial expressions, but not to nonface patches, predicted emotion recognition performance in both controls and patients. Event-related changes in theta amplitude and phase-locking were found to be significantly weaker in patients compared with healthy controls, which is in line with previous investigations showing decreased neural synchronization in the low frequency bands in patients with schizophrenia. Neural synchrony is thought to underlie distributed information processing. Our results indicate a less effective functioning in the recognition process of facial features, which may contribute to a less effective social cognition in schizophrenia. PsycINFO Database Record (c) 2014 APA, all rights reserved.

  20. Realistic facial animation generation based on facial expression mapping

    NASA Astrophysics Data System (ADS)

    Yu, Hui; Garrod, Oliver; Jack, Rachael; Schyns, Philippe

    2014-01-01

    Facial expressions reflect internal emotional states of a character or in response to social communications. Though much effort has been taken to generate realistic facial expressions, it still remains a challenging topic due to human being's sensitivity to subtle facial movements. In this paper, we present a method for facial animation generation, which reflects true facial muscle movements with high fidelity. An intermediate model space is introduced to transfer captured static AU peak frames based on FACS to the conformed target face. And then dynamic parameters derived using a psychophysics method is integrated to generate facial animation, which is assumed to represent natural correlation of multiple AUs. Finally, the animation sequence in the intermediate model space is mapped to the target face to produce final animation.

  1. Cues of fatigue: effects of sleep deprivation on facial appearance.

    PubMed

    Sundelin, Tina; Lekander, Mats; Kecklund, Göran; Van Someren, Eus J W; Olsson, Andreas; Axelsson, John

    2013-09-01

    To investigate the facial cues by which one recognizes that someone is sleep deprived versus not sleep deprived. Experimental laboratory study. Karolinska Institutet, Stockholm, Sweden. Forty observers (20 women, mean age 25 ± 5 y) rated 20 facial photographs with respect to fatigue, 10 facial cues, and sadness. The stimulus material consisted of 10 individuals (five women) photographed at 14:30 after normal sleep and after 31 h of sleep deprivation following a night with 5 h of sleep. Ratings of fatigue, fatigue-related cues, and sadness in facial photographs. The faces of sleep deprived individuals were perceived as having more hanging eyelids, redder eyes, more swollen eyes, darker circles under the eyes, paler skin, more wrinkles/fine lines, and more droopy corners of the mouth (effects ranging from b = +3 ± 1 to b = +15 ± 1 mm on 100-mm visual analog scales, P < 0.01). The ratings of fatigue were related to glazed eyes and to all the cues affected by sleep deprivation (P < 0.01). Ratings of rash/eczema or tense lips were not significantly affected by sleep deprivation, nor associated with judgements of fatigue. In addition, sleep-deprived individuals looked sadder than after normal sleep, and sadness was related to looking fatigued (P < 0.01). The results show that sleep deprivation affects features relating to the eyes, mouth, and skin, and that these features function as cues of sleep loss to other people. Because these facial regions are important in the communication between humans, facial cues of sleep deprivation and fatigue may carry social consequences for the sleep deprived individual in everyday life.

  2. The role of great auricular-facial nerve neurorrhaphy in facial nerve damage

    PubMed Central

    Sun, Yan; Liu, Limei; Han, Yuechen; Xu, Lei; Zhang, Daogong; Wang, Haibo

    2015-01-01

    Background: Facial nerve is easy to be damaged, and there are many reconstructive methods for facial nerve reconstructive, such as facial nerve end to end anastomosis, the great auricular nerve graft, the sural nerve graft, or hypoglossal-facial nerve anastomosis. However, there is still little study about great auricular-facial nerve neurorrhaphy. The aim of the present study was to identify the role of great auricular-facial nerve neurorrhaphy and the mechanism. Methods: Rat models of facial nerve cut (FC), facial nerve end to end anastomosis (FF), facial-great auricular neurorrhaphy (FG), and control (Ctrl) were established. Apex nasi amesiality observation, electrophysiology and immunofluorescence assays were employed to investigate the function and mechanism. Results: In apex nasi amesiality observation, it was found apex nasi amesiality of FG group was partly recovered. Additionally, electrophysiology and immunofluorescence assays revealed that facial-great auricular neurorrhaphy could transfer nerve impulse and express AChR which was better than facial nerve cut and worse than facial nerve end to end anastomosis. Conclusions: The present study indicated that great auricular-facial nerve neurorrhaphy is a substantial solution for facial lesion repair, as it is efficiently preventing facial muscles atrophy by generating neurotransmitter like ACh. PMID:26550216

  3. People with chronic facial pain perform worse than controls at a facial emotion recognition task, but it is not all about the emotion.

    PubMed

    von Piekartz, H; Wallwork, S B; Mohr, G; Butler, D S; Moseley, G L

    2015-04-01

    Alexithymia, or a lack of emotional awareness, is prevalent in some chronic pain conditions and has been linked to poor recognition of others' emotions. Recognising others' emotions from their facial expression involves both emotional and motor processing, but the possible contribution of motor disruption has not been considered. It is possible that poor performance on emotional recognition tasks could reflect problems with emotional processing, motor processing or both. We hypothesised that people with chronic facial pain would be less accurate in recognising others' emotions from facial expressions, would be less accurate in a motor imagery task involving the face, and that performance on both tasks would be positively related. A convenience sample of 19 people (15 females) with chronic facial pain and 19 gender-matched controls participated. They undertook two tasks; in the first task, they identified the facial emotion presented in a photograph. In the second, they identified whether the person in the image had a facial feature pointed towards their left or right side, a well-recognised paradigm to induce implicit motor imagery. People with chronic facial pain performed worse than controls at both tasks (Facially Expressed Emotion Labelling (FEEL) task P < 0·001; left/right judgment task P < 0·001). Participants who were more accurate at one task were also more accurate at the other, regardless of group (P < 0·001, r(2)  = 0·523). Participants with chronic facial pain were worse than controls at both the FEEL emotion recognition task and the left/right facial expression task and performance covaried within participants. We propose that disrupted motor processing may underpin or at least contribute to the difficulty that facial pain patients have in emotion recognition and that further research that tests this proposal is warranted. © 2014 John Wiley & Sons Ltd.

  4. Williams-Beuren syndrome associated with single kidney and nephrocalcinosis: a case report.

    PubMed

    Abidi, Kamel; Jellouli, Manel; Ben Rabeh, Rania; Hammi, Yousra; Gargah, Tahar

    2015-01-01

    Williams-Beuren syndrome is a rare neurodevelopmental disorder, characterized by congenital heart defects, abnormal facial features, mental retardation with specific cognitive and behavioral profile, growth hormone deficiency, renal and skeletal anomalies, inguinal hernia, infantile hypercalcaemia. We report a case with Williams-Beuren syndrome associated with a single kidney and nephrocalcinosis complicated by hypercalcaemia. A male infant, aged 20 months presented growth retardation associated with a psychomotor impairment, dysmorphic features and nephrocalcinosis. He had also hypercalciuria and hypercalcemia. Echocardiography was normal. DMSA renal scintigraphy showed a single functioning kidney. The FISH generated one ELN signal in 20 metaphases read and found the presence of ELN deletion, with compatible Williams-Beuren syndrome.

  5. Suicidality in Body Dysmorphic Disorder

    PubMed Central

    Phillips, Katharine A.

    2008-01-01

    Suicidal ideation, suicide attempts, and completed suicide appear common in individuals with body dysmorphic disorder (BDD). Available evidence indicates that approximately 80% of individuals with BDD experience lifetime suicidal ideation and 24% to 28% have attempted suicide. Although data on completed suicide are limited and preliminary, the suicide rate appears markedly high. These findings underscore the importance of recognizing and effectively treating BDD. However, BDD is underrecognized in clinical settings even though it is relatively common and often presents to psychiatrists and other mental health practitioners, dermatologists, surgeons, and other physicians. This article reviews available evidence on suicidality in BDD and discusses how to recognize and diagnose this often secret disorder. Efficacious treatments for BDD, ie, serotonin reuptake inhibitors (SRIs) and cognitive-behavioral therapy, are also discussed. Although data are limited, it appears that SRIs often diminish suicidality in these patients. Additional research is greatly needed on suicidality rates, characteristics, correlates, risk factors, treatment, and prevention of suicidality in BDD. PMID:18449358

  6. Dissociation between recognition and detection advantage for facial expressions: a meta-analysis.

    PubMed

    Nummenmaa, Lauri; Calvo, Manuel G

    2015-04-01

    Happy facial expressions are recognized faster and more accurately than other expressions in categorization tasks, whereas detection in visual search tasks is widely believed to be faster for angry than happy faces. We used meta-analytic techniques for resolving this categorization versus detection advantage discrepancy for positive versus negative facial expressions. Effect sizes were computed on the basis of the r statistic for a total of 34 recognition studies with 3,561 participants and 37 visual search studies with 2,455 participants, yielding a total of 41 effect sizes for recognition accuracy, 25 for recognition speed, and 125 for visual search speed. Random effects meta-analysis was conducted to estimate effect sizes at population level. For recognition tasks, an advantage in recognition accuracy and speed for happy expressions was found for all stimulus types. In contrast, for visual search tasks, moderator analysis revealed that a happy face detection advantage was restricted to photographic faces, whereas a clear angry face advantage was found for schematic and "smiley" faces. Robust detection advantage for nonhappy faces was observed even when stimulus emotionality was distorted by inversion or rearrangement of the facial features, suggesting that visual features primarily drive the search. We conclude that the recognition advantage for happy faces is a genuine phenomenon related to processing of facial expression category and affective valence. In contrast, detection advantages toward either happy (photographic stimuli) or nonhappy (schematic) faces is contingent on visual stimulus features rather than facial expression, and may not involve categorical or affective processing. (c) 2015 APA, all rights reserved).

  7. Cognitive penetrability and emotion recognition in human facial expressions

    PubMed Central

    Marchi, Francesco

    2015-01-01

    Do our background beliefs, desires, and mental images influence our perceptual experience of the emotions of others? In this paper, we will address the possibility of cognitive penetration (CP) of perceptual experience in the domain of social cognition. In particular, we focus on emotion recognition based on the visual experience of facial expressions. After introducing the current debate on CP, we review examples of perceptual adaptation for facial expressions of emotion. This evidence supports the idea that facial expressions are perceptually processed as wholes. That is, the perceptual system integrates lower-level facial features, such as eyebrow orientation, mouth angle etc., into facial compounds. We then present additional experimental evidence showing that in some cases, emotion recognition on the basis of facial expression is sensitive to and modified by the background knowledge of the subject. We argue that such sensitivity is best explained as a difference in the visual experience of the facial expression, not just as a modification of the judgment based on this experience. The difference in experience is characterized as the result of the interference of background knowledge with the perceptual integration process for faces. Thus, according to the best explanation, we have to accept CP in some cases of emotion recognition. Finally, we discuss a recently proposed mechanism for CP in the face-based recognition of emotion. PMID:26150796

  8. Internal representations reveal cultural diversity in expectations of facial expressions of emotion.

    PubMed

    Jack, Rachael E; Caldara, Roberto; Schyns, Philippe G

    2012-02-01

    Facial expressions have long been considered the "universal language of emotion." Yet consistent cultural differences in the recognition of facial expressions contradict such notions (e.g., R. E. Jack, C. Blais, C. Scheepers, P. G. Schyns, & R. Caldara, 2009). Rather, culture--as an intricate system of social concepts and beliefs--could generate different expectations (i.e., internal representations) of facial expression signals. To investigate, they used a powerful psychophysical technique (reverse correlation) to estimate the observer-specific internal representations of the 6 basic facial expressions of emotion (i.e., happy, surprise, fear, disgust, anger, and sad) in two culturally distinct groups (i.e., Western Caucasian [WC] and East Asian [EA]). Using complementary statistical image analyses, cultural specificity was directly revealed in these representations. Specifically, whereas WC internal representations predominantly featured the eyebrows and mouth, EA internal representations showed a preference for expressive information in the eye region. Closer inspection of the EA observer preference revealed a surprising feature: changes of gaze direction, shown primarily among the EA group. For the first time, it is revealed directly that culture can finely shape the internal representations of common facial expressions of emotion, challenging notions of a biologically hardwired "universal language of emotion."

  9. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.

    PubMed

    Alazami, Anas M; Al-Owain, Mohammad; Alzahrani, Fatema; Shuaib, Taghreed; Al-Shamrani, Hussain; Al-Falki, Yahya H; Al-Qahtani, Saleh M; Alsheddi, Tarfa; Colak, Dilek; Alkuraya, Fowzan S

    2012-10-01

    Primordial dwarfism (PD) is a clinically and genetically heterogeneous condition. Various molecular mechanisms are known to underlie the disease including impaired mitotic mechanics, abnormal IGF2 expression, perturbed DNA damage response, defective spliceosomal machinery, and abnormal replication licensing. Here, we describe a syndromic form of PD associated with severe intellectual disability and distinct facial features in a large multiplex Saudi family. Analysis reveals a novel underlying mechanism for PD involving depletion of 7SK, an abundant cellular noncoding RNA (ncRNA), due to mutation of its chaperone LARP7. We show that 7SK levels are tightly linked to LARP7 expression across cell lines, and that this chaperone is ubiquitously expressed in the mouse embryo. The 7SK is known to influence the expression of a wide array of genes through its inhibitory effect on the positive transcription elongation factor b (P-TEFb) as well as its competing role in HMGA1-mediated transcriptional regulation. This study documents a critical role played by ncRNA in human development and adds to the growing list of molecular mechanisms that, when perturbed, converge on the PD phenotype. © 2012 Wiley Periodicals, Inc.

  10. Easy facial analysis using the facial golden mask.

    PubMed

    Kim, Yong-Ha

    2007-05-01

    For over 2000 years, many artists and scientists have tried to understand or quantify the form of the perfect, ideal, or most beautiful face both in art and in vivo (life). A mathematical relationship has been consistently and repeatedly reported to be present in beautiful things. This particular relationship is the golden ratio. It is a mathematical ratio of 1.618:1 that seems to appear recurrently in beautiful things in nature as well as in other things that are seen as beautiful. Dr. Marquardt made the facial golden mask that contains and includes all of the one-dimensional and two-dimensional geometric golden elements formed from the golden ratio. The purpose of this study is to evaluate the usefulness of the golden facial mask. In 40 cases, the authors applied the facial golden mask to preoperative and postoperative photographs and scored each photograph on a 1 to 5 scale from the perspective of their personal aesthetic views. The score was lower when the facial deformity was severe, whereas it was higher when the face was attractive. Compared with the average scores of facial mask applied photographs and nonapplied photographs using a nonparametric test, statistical significance was not reached (P > 0.05). This implies that the facial golden mask may be used as an analytical tool. The facial golden mask is easy to apply, inexpensive, and relatively objective. Therefore, the authors introduce it as a useful facial analysis.

  11. Plain faces are more expressive: comparative study of facial colour, mobility and musculature in primates

    PubMed Central

    Santana, Sharlene E.; Dobson, Seth D.; Diogo, Rui

    2014-01-01

    Facial colour patterns and facial expressions are among the most important phenotypic traits that primates use during social interactions. While colour patterns provide information about the sender's identity, expressions can communicate its behavioural intentions. Extrinsic factors, including social group size, have shaped the evolution of facial coloration and mobility, but intrinsic relationships and trade-offs likely operate in their evolution as well. We hypothesize that complex facial colour patterning could reduce how salient facial expressions appear to a receiver, and thus species with highly expressive faces would have evolved uniformly coloured faces. We test this hypothesis through a phylogenetic comparative study, and explore the underlying morphological factors of facial mobility. Supporting our hypothesis, we find that species with highly expressive faces have plain facial colour patterns. The number of facial muscles does not predict facial mobility; instead, species that are larger and have a larger facial nucleus have more expressive faces. This highlights a potential trade-off between facial mobility and colour patterning in primates and reveals complex relationships between facial features during primate evolution. PMID:24850898

  12. Set shifting and visuospatial organization deficits in body dysmorphic disorder.

    PubMed

    Greenberg, Jennifer L; Weingarden, Hilary; Reuman, Lillian; Abrams, Dylan; Mothi, Suraj S; Wilhelm, Sabine

    2017-11-24

    Individuals with body dysmorphic disorder (BDD) over-attend to perceived defect(s) in their physical appearance, often becoming "stuck" obsessing about perceived flaws and engaging in rituals to hide flaws. These symptoms suggest that individuals with BDD may experience deficits in underlying neurocognitive functions, such as set-shifting and visuospatial organization. These deficits have been implicated as risk and maintenance factors in disorders with similarities to BDD but have been minimally investigated in BDD. The present study examined differences in neurocognitive functions among BDD participants (n = 20) compared to healthy controls (HCs; n = 20). Participants completed neuropsychological assessments measuring set-shifting (Cambridge Neuropsychological Test Automated Battery Intra-Extra Dimensional Set Shift [IED] task) and visuospatial organization and memory (Rey-Osterrieth Complex Figure Test [ROCF]). Results revealed a set-shifting deficit among BDD participants compared to HCs on the IED. On the ROCF, BDD participants exhibited deficits in visuospatial organization compared to HCs, but they did not differ in visuospatial memory compared to HCs. Results did not change when accounting for depression severity. Findings highlight neurocognitive deficits as potential endophenotype markers of clinical features (i.e., delusionality). Understanding neuropsychological deficits may clarify similarities and differences between BDD and related disorders and may guide targets for BDD treatment. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. Real Time 3D Facial Movement Tracking Using a Monocular Camera.

    PubMed

    Dong, Yanchao; Wang, Yanming; Yue, Jiguang; Hu, Zhencheng

    2016-07-25

    The paper proposes a robust framework for 3D facial movement tracking in real time using a monocular camera. It is designed to estimate the 3D face pose and local facial animation such as eyelid movement and mouth movement. The framework firstly utilizes the Discriminative Shape Regression method to locate the facial feature points on the 2D image and fuses the 2D data with a 3D face model using Extended Kalman Filter to yield 3D facial movement information. An alternating optimizing strategy is adopted to fit to different persons automatically. Experiments show that the proposed framework could track the 3D facial movement across various poses and illumination conditions. Given the real face scale the framework could track the eyelid with an error of 1 mm and mouth with an error of 2 mm. The tracking result is reliable for expression analysis or mental state inference.

  14. Combat-related facial burns: analysis of strategic pitfalls.

    PubMed

    Johnson, Benjamin W; Madson, Andrew Q; Bong-Thakur, Sarah; Tucker, David; Hale, Robert G; Chan, Rodney K

    2015-01-01

    Burns constitute approximately 10% of all combat-related injuries to the head and neck region. We postulated that the combat environment presents unique challenges not commonly encountered among civilian injuries. The purpose of the present study was to determine the features commonly seen among combat facial burns that will result in therapeutic challenges and might contribute to undesired outcomes. The present study was a retrospective study performed using a query of the Burn Registry at the US Army Institute of Surgical Research Burn Center for all active duty facial burn admissions from October 2001 to February 2011. The demographic data, total body surface area of the burn, facial region body surface area involvement, and dates of injury, first operation, and first facial operation were tabulated and compared. A subset analysis of severe facial burns, defined by a greater than 7% facial region body surface area, was performed with a thorough medical record review to determine the presence of associated injuries. Of all the military burn injuries, 67.1% (n = 558) involved the face. Of these, 81.3% (n = 454) were combat related. The combat facial burns had a mean total body surface area of 21.4% and a mean facial region body surface area of 3.2%. The interval from the date of the injury to the first operative encounter was 6.6 ± 0.8 days and was 19.8 ± 2.0 days to the first facial operation. A subset analysis of the severe facial burns revealed that the first facial operation and the definitive coverage operation was performed at 13.45 ± 2.6 days and 31.9 ± 4.1 days after the injury, respectively. The mortality rate for this subset of patients was 32% (n = 10), with a high rate of associated inhalational injuries (61%, n = 19), limb amputations (29%, n = 9), and facial allograft usage (48%, n = 15) and a mean facial autograft thickness of 10.5/1,000th in. Combat-related facial burns present multiple challenges, which can contribute to suboptimal long

  15. Congenital axis dysmorphism in a medieval skeleton : …secunda a vertendo epistropheus….

    PubMed

    Travan, Luciana; Saccheri, Paola; Toso, Francesco; Crivellato, Enrico

    2013-05-01

    We describe here the axis dysmorphism that we observed in the skeletal remains of a human child dug up from a fifteenth century cemetery located in north-eastern Italy. This bone defect is discussed in the light of pertinent literature. We performed macroscopical examination and CT scan analysis of the axis. Axis structure was remarkably asymmetric. Whilst the left half exhibited normal morphology, the right one was smaller than normal, and its lateral articular surface showed horizontal orientation. In addition, the odontoid process appeared leftward deviated and displayed a supplementary articular-like facet situated on the right side of its surface. These findings suggest a diagnosis of unilateral irregular segmentation of atlas and axis, a rare dysmorphism dependent upon disturbances of notochordal development in early embryonic life. Likewise other malformations of the craniovertebral junction, this axis defect may alter the delicate mechanisms of upper neck movements and cause a complex series of clinical symptoms. This is an emblematic case whereby human skeletal remains may provide valuable information on the anatomical defects of craniovertebral junction.

  16. Dogs Evaluate Threatening Facial Expressions by Their Biological Validity – Evidence from Gazing Patterns

    PubMed Central

    Somppi, Sanni; Törnqvist, Heini; Kujala, Miiamaaria V.; Hänninen, Laura; Krause, Christina M.; Vainio, Outi

    2016-01-01

    Appropriate response to companions’ emotional signals is important for all social creatures. The emotional expressions of humans and non-human animals have analogies in their form and function, suggesting shared evolutionary roots, but very little is known about how animals other than primates view and process facial expressions. In primates, threat-related facial expressions evoke exceptional viewing patterns compared with neutral or positive stimuli. Here, we explore if domestic dogs (Canis familiaris) have such an attentional bias toward threatening social stimuli and whether observed emotional expressions affect dogs’ gaze fixation distribution among the facial features (eyes, midface and mouth). We recorded the voluntary eye gaze of 31 domestic dogs during viewing of facial photographs of humans and dogs with three emotional expressions (threatening, pleasant and neutral). We found that dogs’ gaze fixations spread systematically among facial features. The distribution of fixations was altered by the seen expression, but eyes were the most probable targets of the first fixations and gathered longer looking durations than mouth regardless of the viewed expression. The examination of the inner facial features as a whole revealed more pronounced scanning differences among expressions. This suggests that dogs do not base their perception of facial expressions on the viewing of single structures, but the interpretation of the composition formed by eyes, midface and mouth. Dogs evaluated social threat rapidly and this evaluation led to attentional bias, which was dependent on the depicted species: threatening conspecifics’ faces evoked heightened attention but threatening human faces instead an avoidance response. We propose that threatening signals carrying differential biological validity are processed via distinctive neurocognitive pathways. Both of these mechanisms may have an adaptive significance for domestic dogs. The findings provide a novel

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

    PubMed

    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, P<0.05). Facial 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.

  18. In-the-wild facial expression recognition in extreme poses

    NASA Astrophysics Data System (ADS)

    Yang, Fei; Zhang, Qian; Zheng, Chi; Qiu, Guoping

    2018-04-01

    In the computer research area, facial expression recognition is a hot research problem. Recent years, the research has moved from the lab environment to in-the-wild circumstances. It is challenging, especially under extreme poses. But current expression detection systems are trying to avoid the pose effects and gain the general applicable ability. In this work, we solve the problem in the opposite approach. We consider the head poses and detect the expressions within special head poses. Our work includes two parts: detect the head pose and group it into one pre-defined head pose class; do facial expression recognize within each pose class. Our experiments show that the recognition results with pose class grouping are much better than that of direct recognition without considering poses. We combine the hand-crafted features, SIFT, LBP and geometric feature, with deep learning feature as the representation of the expressions. The handcrafted features are added into the deep learning framework along with the high level deep learning features. As a comparison, we implement SVM and random forest to as the prediction models. To train and test our methodology, we labeled the face dataset with 6 basic expressions.

  19. An Automatic Diagnosis Method of Facial Acne Vulgaris Based on Convolutional Neural Network.

    PubMed

    Shen, Xiaolei; Zhang, Jiachi; Yan, Chenjun; Zhou, Hong

    2018-04-11

    In this paper, we present a new automatic diagnosis method for facial acne vulgaris which is based on convolutional neural networks (CNNs). To overcome the shortcomings of previous methods which were the inability to classify enough types of acne vulgaris. The core of our method is to extract features of images based on CNNs and achieve classification by classifier. A binary-classifier of skin-and-non-skin is used to detect skin area and a seven-classifier is used to achieve the classification task of facial acne vulgaris and healthy skin. In the experiments, we compare the effectiveness of our CNN and the VGG16 neural network which is pre-trained on the ImageNet data set. We use a ROC curve to evaluate the performance of binary-classifier and use a normalized confusion matrix to evaluate the performance of seven-classifier. The results of our experiments show that the pre-trained VGG16 neural network is effective in extracting features from facial acne vulgaris images. And the features are very useful for the follow-up classifiers. Finally, we try applying the classifiers both based on the pre-trained VGG16 neural network to assist doctors in facial acne vulgaris diagnosis.

  20. Influence of skin ageing features on Chinese women's perception of facial age and attractiveness

    PubMed Central

    Porcheron, A; Latreille, J; Jdid, R; Tschachler, E; Morizot, F

    2014-01-01

    Objectives Ageing leads to characteristic changes in the appearance of facial skin. Among these changes, we can distinguish the skin topographic cues (skin sagging and wrinkles), the dark spots and the dark circles around the eyes. Although skin changes are similar in Caucasian and Chinese faces, the age of occurrence and the severity of age-related features differ between the two populations. Little is known about how the ageing of skin influences the perception of female faces in Chinese women. The aim of this study is to evaluate the contribution of the different age-related skin features to the perception of age and attractiveness in Chinese women. Methods Facial images of Caucasian women and Chinese women in their 60s were manipulated separately to reduce the following skin features: (i) skin sagging and wrinkles, (ii) dark spots and (iii) dark circles. Finally, all signs were reduced simultaneously (iv). Female Chinese participants were asked to estimate the age difference between the modified and original images and evaluate the attractiveness of modified and original faces. Results Chinese women perceived the Chinese faces as younger after the manipulation of dark spots than after the reduction in wrinkles/sagging, whereas they perceived the Caucasian faces as the youngest after the manipulation of wrinkles/sagging. Interestingly, Chinese women evaluated faces with reduced dark spots as being the most attractive whatever the origin of the face. The manipulation of dark circles contributed to making Caucasian and Chinese faces being perceived younger and more attractive than the original faces, although the effect was less pronounced than for the two other types of manipulation. Conclusion This is the first study to have examined the influence of various age-related skin features on the facial age and attractiveness perception of Chinese women. The results highlight different contributions of dark spots, sagging/wrinkles and dark circles to their perception

  1. Subthreshold body dysmorphic disorder in adolescents: Prevalence and impact.

    PubMed

    Schneider, Sophie C; Mond, Jonathan; Turner, Cynthia M; Hudson, Jennifer L

    2017-05-01

    The aim of the current study was to establish the prevalence of subthreshold body dysmorphic disorder (subthreshold-BDD) in a community sample of adolescents, and to compare disorder correlates in individuals with subthreshold-BDD to those with probable full-syndrome BDD (probable-BDD) and those without BDD (non-BDD). Self-report questionnaires assessing DSM-IV BDD criteria, past mental health service use, and symptoms of body dysmorphic disorder, anxiety, depression, obsessive-compulsive disorder and eating disorders, were completed by 3149 Australian high school students (mean age =14.6 years, 63.5% male). Male participants also completed measures assessing quality of life, muscularity concerns, emotional symptoms, conduct problems, hyperactivity, and peer problems. The prevalence of subthreshold-BDD was 3.4%, and probable-BDD was 1.7%. Compared to the non-BDD group, subthreshold-BDD was associated with elevated symptoms of comorbid psychopathology and greater past mental health service use, and in male-only measures, with poorer quality of life and elevated muscularity concerns. Subthreshold-BDD participants reported significantly lower mental health service use, and fewer symptoms of depression, eating disorders, and hyperactivity than probable-BDD participants, however, other comorbid symptoms did not differ significantly between these groups. These findings indicate that subthreshold-BDD is associated with substantial difficulties for adolescents in the general community. BDD screening should include subthreshold presentations, as these may be an important target for early intervention programs. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  2. Looking at faces from different angles: Europeans fixate different features in Asian and Caucasian faces.

    PubMed

    Brielmann, Aenne A; Bülthoff, Isabelle; Armann, Regine

    2014-07-01

    Race categorization of faces is a fast and automatic process and is known to affect further face processing profoundly and at earliest stages. Whether processing of own- and other-race faces might rely on different facial cues, as indicated by diverging viewing behavior, is much under debate. We therefore aimed to investigate two open questions in our study: (1) Do observers consider information from distinct facial features informative for race categorization or do they prefer to gain global face information by fixating the geometrical center of the face? (2) Does the fixation pattern, or, if facial features are considered relevant, do these features differ between own- and other-race faces? We used eye tracking to test where European observers look when viewing Asian and Caucasian faces in a race categorization task. Importantly, in order to disentangle centrally located fixations from those towards individual facial features, we presented faces in frontal, half-profile and profile views. We found that observers showed no general bias towards looking at the geometrical center of faces, but rather directed their first fixations towards distinct facial features, regardless of face race. However, participants looked at the eyes more often in Caucasian faces than in Asian faces, and there were significantly more fixations to the nose for Asian compared to Caucasian faces. Thus, observers rely on information from distinct facial features rather than facial information gained by centrally fixating the face. To what extent specific features are looked at is determined by the face's race. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.

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

    PubMed

    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.

  4. Ophthalmic profile and systemic features of pediatric facial nerve palsy.

    PubMed

    Patil-Chhablani, Preeti; Murthy, Sowmya; Swaminathan, Meenakshi

    2015-12-01

    Facial nerve palsy (FNP) occurs less frequently in children as compared to adults but most cases are secondary to an identifiable cause. These children may have a variety of ocular and systemic features associated with the palsy and need detailed ophthalmic and systemic evaluation. This was a retrospective chart review of all the cases of FNP below the age of 16 years, presenting to a tertiary ophthalmic hospital over the period of 9 years, from January 2000 to December 2008. A total of 22 patients were included in the study. The average age at presentation was 6.08 years (range, 4 months to 16 years). Only one patient (4.54%) had bilateral FNP and 21 cases (95.45%) had unilateral FNP. Seventeen patients (77.27%) had congenital palsy and of these, five patients had a syndromic association, three had birth trauma and nine patients had idiopathic palsy. Five patients (22.72%) had an acquired palsy, of these, two had a traumatic cause and one patient each had neoplastic origin of the palsy, iatrogenic palsy after surgery for hemangioma and idiopathic palsy. Three patients had ipsilateral sixth nerve palsy, two children were diagnosed to have Moebius syndrome, one child had an ipsilateral Duane's syndrome with ipsilateral hearing loss. Corneal involvement was seen in eight patients (36.36%). Amblyopia was seen in ten patients (45.45%). Neuroimaging studies showed evidence of trauma, posterior fossa cysts, pontine gliosis and neoplasms such as a chloroma. Systemic associations included hemifacial macrosomia, oculovertebral malformations, Dandy Walker syndrome, Moebius syndrome and cerebral palsy FNP in children can have a number of underlying causes, some of which may be life threatening. It can also result in serious ocular complications including corneal perforation and severe amblyopia. These children require a multifaceted approach to their care.

  5. Comparing Facial 3D Analysis With DNA Testing to Determine Zygosities of Twins.

    PubMed

    Vuollo, Ville; Sidlauskas, Mantas; Sidlauskas, Antanas; Harila, Virpi; Salomskiene, Loreta; Zhurov, Alexei; Holmström, Lasse; Pirttiniemi, Pertti; Heikkinen, Tuomo

    2015-06-01

    The aim of this study was to compare facial 3D analysis to DNA testing in twin zygosity determinations. Facial 3D images of 106 pairs of young adult Lithuanian twins were taken with a stereophotogrammetric device (3dMD, Atlanta, Georgia) and zygosity was determined according to similarity of facial form. Statistical pattern recognition methodology was used for classification. The results showed that in 75% to 90% of the cases, zygosity determinations were similar to DNA-based results. There were 81 different classification scenarios, including 3 groups, 3 features, 3 different scaling methods, and 3 threshold levels. It appeared that coincidence with 0.5 mm tolerance is the most suitable feature for classification. Also, leaving out scaling improves results in most cases. Scaling was expected to equalize the magnitude of differences and therefore lead to better recognition performance. Still, better classification features and a more effective scaling method or classification in different facial areas could further improve the results. In most of the cases, male pair zygosity recognition was at a higher level compared with females. Erroneously classified twin pairs appear to be obvious outliers in the sample. In particular, faces of young dizygotic (DZ) twins may be so similar that it is very hard to define a feature that would help classify the pair as DZ. Correspondingly, monozygotic (MZ) twins may have faces with quite different shapes. Such anomalous twin pairs are interesting exceptions, but they form a considerable portion in both zygosity groups.

  6. The Prevalence of Cosmetic Facial Plastic Procedures among Facial Plastic Surgeons.

    PubMed

    Moayer, Roxana; Sand, Jordan P; Han, Albert; Nabili, Vishad; Keller, Gregory S

    2018-04-01

    This is the first study to report on the prevalence of cosmetic facial plastic surgery use among facial plastic surgeons. The aim of this study is to determine the frequency with which facial plastic surgeons have cosmetic procedures themselves. A secondary aim is to determine whether trends in usage of cosmetic facial procedures among facial plastic surgeons are similar to that of nonsurgeons. The study design was an anonymous, five-question, Internet survey distributed via email set in a single academic institution. Board-certified members of the American Academy of Facial Plastic and Reconstructive Surgery (AAFPRS) were included in this study. Self-reported history of cosmetic facial plastic surgery or minimally invasive procedures were recorded. The survey also queried participants for demographic data. A total of 216 members of the AAFPRS responded to the questionnaire. Ninety percent of respondents were male ( n  = 192) and 10.3% were female ( n  = 22). Thirty-three percent of respondents were aged 31 to 40 years ( n  = 70), 25% were aged 41 to 50 years ( n  = 53), 21.4% were aged 51 to 60 years ( n  = 46), and 20.5% were older than 60 years ( n  = 44). Thirty-six percent of respondents had a surgical cosmetic facial procedure and 75% has at least one minimally invasive cosmetic facial procedure. Facial plastic surgeons are frequent users of cosmetic facial plastic surgery. This finding may be due to access, knowledge base, values, or attitudes. By better understanding surgeon attitudes toward facial plastic surgery, we can improve communication with patients and delivery of care. This study is a first step in understanding use of facial plastic procedures among facial plastic surgeons. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  7. Clinical Application of a Behavioral Model for the Treatment of Body Dysmorphic Disorder

    ERIC Educational Resources Information Center

    Rabinowitz, Dena; Neziroglu, Fugen; Roberts, Marty

    2007-01-01

    Body dysmorphic disorder (BDD) is characterized by an obsessive concern over a perceived flaw in bodily appearance. If a minor flaw does exist, the patient displays unwarranted distress. This preoccupation typically leads to compulsive behaviors, such as mirror checking or mirror avoiding, camouflaging, and seeking reassurance from others…

  8. Body dysmorphic disorder: diagnosis and treatment.

    PubMed

    Herren, Chris; Armentrout, Tim; Higgins, Marcus

    2003-01-01

    Our society constantly sees images of athletes and models in movies and magazines and on television. These people often are presented as representing the ideals of the human body. These images can have a significant effect on people who already are predisposed to being preoccupied with their appearance, those who suffer from body dysmorphic disorder (BDD). People who have this disorder are preoccupied with certain aspects of their bodies and often seek to remedy their perceived flaws with cosmetic treatment. A general dentist may be the first health care worker who has an opportunity to intervene and assist these people in getting treatment. Patients may have unrealistic expectations for certain procedures, so assessing their psychological status is an important part of treatment planning and diagnosis. Patient expectations should be determined and the ability to provide care that meets those expectations should be discussed.

  9. Insulin dependent diabetes mellitus (IDDM) and autoimmune thyroiditis in a boy with a ring chromosome 18: additional evidence of autoimmunity or IDDM gene(s) on chromosome 18.

    PubMed

    Dacou-Voutetakis, C; Sertedaki, A; Maniatis-Christidis, M; Sarri, C; Karadima, G; Petersen, M B; Xaidara, A; Kanariou, M; Nicolaidou, P

    1999-02-01

    A 4 year 3 month old boy with insulin dependent diabetes mellitus (IDDM), autoimmune thyroiditis, slight mental retardation, facial dysmorphism, and a de novo ring chromosome 18 (deletion 18q22.3-18qter) is described. This unique association of defects could represent a chance association. Alternatively, the clinical features could be the result of the chromosomal aberration. If so, one could speculate that a gene or genes on chromosome 18 might act as a suppressor or activator of the autoimmune process by itself or in concert with other IDDM loci.

  10. How many breaks do we need to CATCH on 22q11?

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Dallapiccola, B.; Pizzuti, A.; Novelli, G.

    1996-07-01

    The major clinical manifestations of DiGeorge syndrome (DGS; MIM 188400), which reflect developmental abnormalities of the 3d and 4th pharyngeal pouch derivatives, include thymus- and parathyroid-gland aplasia or hypoplasia and conotruncal cardiac malformations. The additional dysmorphic facial features, such as hypertelorism, cleft lip and palate, bifid uvula, and small/low-set ears, which are also common, presumably reflect the same defect. The DGS phenotype has been associated with chromosome abnormalities and, sometimes, is the effect of teratogenic agents such as retinoic acid and alcohol. 53 refs., 1 fig.

  11. A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36).

    PubMed Central

    Delicado, A; Escribano, E; Lopez Pajares, I; Diaz de Bustamante, A; Carrasco, S

    1991-01-01

    We report a child with facial dysmorphic features, hypoplasia of the external genitalia, intestinal malrotation, congenital cardiac defect, and minor limb anomalies. Chromosome studies showed a recombinant chromosome 7, rec(7) dup p, resulting from a maternal pericentric inversion inv(7)(p15 q36). Thus, this child had partial trisomy 7p in addition to a small distal monosomy 7. The clinical findings are compared with those found in previous reports of trisomy 7p. Finally, some general principles for genetic counselling are discussed. Images PMID:2002483

  12. Osteocraniostenosis.

    PubMed Central

    Verloes, A; Narcy, F; Grattagliano, B; Delezoide, A L; Guibaud, P; Schaaps, J P; Le Merrer, M; Maroteaux, P

    1994-01-01

    We report a multiple congenital anomalies (MCA) syndrome in three unrelated fetuses consisting of extremely thin, dense, fishbone-like diaphyses, flared metaphyses, mild micromelic dwarfism, brachydactyly, facial dysmorphism, ocular malformations (microphthalmia, aniridia), cloverleaf skull deformity, and splenic hypoplasia. Histopathological investigations showed abnormalities of the metaphyseal cartilage and adjacent diaphyseal ossification, excessive modelling of the metaphyses, and, in one case, dysplasia of the epiphyseal cartilage. We review three previously reported cases. We suggest the name osteocraniostenosis to describe this radiological and clinical disorder, pinpointing its major clinical and radiological features. Images PMID:7837254

  13. A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.

    PubMed

    Dunkerton, Sophie; Field, Matthew; Cho, Vicki; Bertram, Edward; Whittle, Belinda; Groves, Alexandra; Goel, Himanshu

    2015-09-01

    Growth deficiency, psychomotor delay, and facial dysmorphism was originally described in a male patient in 1989 by Wiedemann et al. and later in 2000 by Steiner et al. Wiedemann-Steiner syndrome (WSS) has since been described only a few times in the literature, with the phenotypic spectrum both expanding and becoming more delineated with each patient reported. We report on the clinical and molecular features of monozygotic twins with a de novo mutation in KMT2A. Single nucleotide polymorphism (SNP) microarray was done on both twins and whole-exome sequencing was done using both parents and one of the affected twins. SNP microarray confirmed that they were monozygotic twins. A de novo heterozygous variant (p. Arg1083*) in the KMT2A gene was identified through whole-exome sequencing, confirming the diagnosis of WSS. In this study, we have identified a de novo mutation in KMT2A associated with psychomotor developmental delay, facial dysmorphism, short stature, hypertrichosis cubiti, and small kidneys. This finding in monozygotic twins gives specificity to the WSS. The description of more cases of WSS is needed for further delineation of this condition. Small kidneys with normal function have not been described in this condition in the medical literature before. © 2015 Wiley Periodicals, Inc.

  14. How Do Typically Developing Deaf Children and Deaf Children with Autism Spectrum Disorder Use the Face When Comprehending Emotional Facial Expressions in British Sign Language?

    ERIC Educational Resources Information Center

    Denmark, Tanya; Atkinson, Joanna; Campbell, Ruth; Swettenham, John

    2014-01-01

    Facial expressions in sign language carry a variety of communicative features. While emotion can modulate a spoken utterance through changes in intonation, duration and intensity, in sign language specific facial expressions presented concurrently with a manual sign perform this function. When deaf adult signers cannot see facial features, their…

  15. Unfakeable Facial Configurations Affect Strategic Choices in Trust Games with or without Information about Past Behavior

    PubMed Central

    Rezlescu, Constantin; Duchaine, Brad; Olivola, Christopher Y.; Chater, Nick

    2012-01-01

    Background Many human interactions are built on trust, so widespread confidence in first impressions generally favors individuals with trustworthy-looking appearances. However, few studies have explicitly examined: 1) the contribution of unfakeable facial features to trust-based decisions, and 2) how these cues are integrated with information about past behavior. Methodology/Principal Findings Using highly controlled stimuli and an improved experimental procedure, we show that unfakeable facial features associated with the appearance of trustworthiness attract higher investments in trust games. The facial trustworthiness premium is large for decisions based solely on faces, with trustworthy identities attracting 42% more money (Study 1), and remains significant though reduced to 6% when reputational information is also available (Study 2). The face trustworthiness premium persists with real (rather than virtual) currency and when higher payoffs are at stake (Study 3). Conclusions/Significance Our results demonstrate that cooperation may be affected not only by controllable appearance cues (e.g., clothing, facial expressions) as shown previously, but also by features that are impossible to mimic (e.g., individual facial structure). This unfakeable face trustworthiness effect is not limited to the rare situations where people lack any information about their partners, but survives in richer environments where relevant details about partner past behavior are available. PMID:22470553

  16. Unfakeable facial configurations affect strategic choices in trust games with or without information about past behavior.

    PubMed

    Rezlescu, Constantin; Duchaine, Brad; Olivola, Christopher Y; Chater, Nick

    2012-01-01

    Many human interactions are built on trust, so widespread confidence in first impressions generally favors individuals with trustworthy-looking appearances. However, few studies have explicitly examined: 1) the contribution of unfakeable facial features to trust-based decisions, and 2) how these cues are integrated with information about past behavior. Using highly controlled stimuli and an improved experimental procedure, we show that unfakeable facial features associated with the appearance of trustworthiness attract higher investments in trust games. The facial trustworthiness premium is large for decisions based solely on faces, with trustworthy identities attracting 42% more money (Study 1), and remains significant though reduced to 6% when reputational information is also available (Study 2). The face trustworthiness premium persists with real (rather than virtual) currency and when higher payoffs are at stake (Study 3). Our results demonstrate that cooperation may be affected not only by controllable appearance cues (e.g., clothing, facial expressions) as shown previously, but also by features that are impossible to mimic (e.g., individual facial structure). This unfakeable face trustworthiness effect is not limited to the rare situations where people lack any information about their partners, but survives in richer environments where relevant details about partner past behavior are available.

  17. The facial skeleton of the chimpanzee-human last common ancestor

    PubMed Central

    Cobb, Samuel N

    2008-01-01

    This review uses the current morphological evidence to evaluate the facial morphology of the hypothetical last common ancestor (LCA) of the chimpanzee/bonobo (panin) and human (hominin) lineages. Some of the problems involved in reconstructing ancestral morphologies so close to the formation of a lineage are discussed. These include the prevalence of homoplasy and poor phylogenetic resolution due to a lack of defining derived features. Consequently the list of hypothetical features expected in the face of the LCA is very limited beyond its hypothesized similarity to extant Pan. It is not possible to determine with any confidence whether the facial morphology of any of the current candidate LCA taxa (Ardipithecus kadabba, Ardipithecus ramidus, Orrorin tugenensis and Sahelanthropus tchadensis) is representative of the LCA, or a stem hominin, or a stem panin or, in some cases, a hominid predating the emergence of the hominin lineage. The major evolutionary trends in the hominin lineage subsequent to the LCA are discussed in relation to the dental arcade and dentition, subnasal morphology and the size, position and prognathism of the facial skeleton. PMID:18380866

  18. Implant-retained craniofacial prostheses for facial defects

    PubMed Central

    Federspil, Philipp A.

    2012-01-01

    Craniofacial prostheses, also known as epistheses, are artificial substitutes for facial defects. The breakthrough for rehabilitation of facial defects with implant-retained prostheses came with the development of the modern silicones and bone anchorage. Following the discovery of the osseointegration of titanium in the 1950s, dental implants have been made of titanium in the 1960s. In 1977, the first extraoral titanium implant was inserted in a patient. Later, various solitary extraoral implant systems were developed. Grouped implant systems have also been developed which may be placed more reliably in areas with low bone presentation, as in the nasal and orbital region, or the ideally pneumatised mastoid process. Today, even large facial prostheses may be securely retained. The classical atraumatic surgical technique has remained an unchanged prerequisite for successful implantation of any system. This review outlines the basic principles of osseointegration as well as the main features of extraoral implantology. PMID:22073096

  19. Cued Panic Attacks in Body Dysmorphic Disorder

    PubMed Central

    Phillips, Katharine A.; Menard, William; Bjornsson, Andri S.

    2013-01-01

    Background Body dysmorphic disorder (BDD) is a common and often severe disorder. Clinical observations suggest that panic attacks triggered by BDD symptoms may be common. However, to our knowledge, no study has examined such panic attacks in BDD. We investigated the prevalence, clinical features, and correlates of BDD-triggered panic attacks in individuals with this disorder. Methods Panic attacks and other variables were assessed using reliable and valid measures in 76 individuals with lifetime DSM-IV BDD. Results 28.9% (95% CI, 18.5%–39.4%) of participants reported lifetime panic attacks triggered by BDD symptoms. The most common triggers of such attacks were feeling that others were looking at or scrutinizing the perceived appearance defects (61.9%), looking in the mirror at perceived defects (38.1%), and being in bright light where perceived defects would be more visible (23.8%). The most common panic attack symptoms were palpitations (86.4%), sweating (66.7%), shortness of breath (63.6%), trembling or shaking (63.6%), and fear of losing control or going crazy (63.6%). Compared to participants without such panic attacks, those with BDD-triggered panic attacks had more severe lifetime BDD, social anxiety, and depressive symptoms, as well as poorer functioning and quality of life on a number of measures. They were also less likely to be employed and more likely to have been psychiatrically hospitalized and to have had suicidal ideation due to BDD. Conclusions Panic attacks triggered by BDD-related situations appear common in individuals with this disorder. BDD-triggered panic attacks were associated with greater symptom severity and morbidity. PMID:23653076

  20. Real Time 3D Facial Movement Tracking Using a Monocular Camera

    PubMed Central

    Dong, Yanchao; Wang, Yanming; Yue, Jiguang; Hu, Zhencheng

    2016-01-01

    The paper proposes a robust framework for 3D facial movement tracking in real time using a monocular camera. It is designed to estimate the 3D face pose and local facial animation such as eyelid movement and mouth movement. The framework firstly utilizes the Discriminative Shape Regression method to locate the facial feature points on the 2D image and fuses the 2D data with a 3D face model using Extended Kalman Filter to yield 3D facial movement information. An alternating optimizing strategy is adopted to fit to different persons automatically. Experiments show that the proposed framework could track the 3D facial movement across various poses and illumination conditions. Given the real face scale the framework could track the eyelid with an error of 1 mm and mouth with an error of 2 mm. The tracking result is reliable for expression analysis or mental state inference. PMID:27463714

  1. Facial expression reconstruction on the basis of selected vertices of triangle mesh

    NASA Astrophysics Data System (ADS)

    Peszor, Damian; Wojciechowska, Marzena

    2016-06-01

    Facial expression reconstruction is an important issue in the field of computer graphics. While it is relatively easy to create an animation based on meshes constructed through video recordings, this kind of high-quality data is often not transferred to another model because of lack of intermediary, anthropometry-based way to do so. However, if a high-quality mesh is sampled with sufficient density, it is possible to use obtained feature points to encode the shape of surrounding vertices in a way that can be easily transferred to another mesh with corresponding feature points. In this paper we present a method used for obtaining information for the purpose of reconstructing changes in facial surface on the basis of selected feature points.

  2. A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay.

    PubMed

    Liang, Liyang; Xie, Yingjun; Shen, Yiping; Yin, Qibin; Yuan, Haiming

    2016-01-01

    Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments. A de novo 4.5-Mb interstitial duplication at 4p15.2p15.1 was detected by chromosomal microarray analysis. Next-generation sequencing was employed and confirmed the duplication, but revealed no additional pathogenic variants. Several candidate genes in this interval responsible for the complex clinical phenotype were identified, such as RBPJ, STIM2, CCKAR, and LGI2. The results suggest a novel contiguous gene duplication syndrome. © 2016 S. Karger AG, Basel.

  3. The Relationship between Body Dysmorphic Disorder Behaviors and the Acquired Capability for Suicide

    ERIC Educational Resources Information Center

    Witte, Tracy K.; Didie, Elizabeth R.; Menard, William; Phillips, Katharine A.

    2012-01-01

    In a sample of 200 individuals diagnosed with body dysmorphic disorder (BDD), we utilized the interpersonal-psychological theory for suicide as a framework to examine BDD behaviors that might be associated with suicide risk, insofar as they might increase the acquired capability for suicide. We predicted that physically painful BDD behaviors…

  4. Reading Faces: From Features to Recognition.

    PubMed

    Guntupalli, J Swaroop; Gobbini, M Ida

    2017-12-01

    Chang and Tsao recently reported that the monkey face patch system encodes facial identity in a space of facial features as opposed to exemplars. Here, we discuss how such coding might contribute to face recognition, emphasizing the critical role of learning and interactions with other brain areas for optimizing the recognition of familiar faces. Copyright © 2017 Elsevier Ltd. All rights reserved.

  5. Facial neuropathy with imaging enhancement of the facial nerve: a case report

    PubMed Central

    Mumtaz, Sehreen; Jensen, Matthew B

    2014-01-01

    A young women developed unilateral facial neuropathy 2 weeks after a motor vehicle collision involving fractures of the skull and mandible. MRI showed contrast enhancement of the facial nerve. We review the literature describing facial neuropathy after trauma and facial nerve enhancement patterns with different causes of facial neuropathy. PMID:25574155

  6. Does skull shape mediate the relationship between objective features and subjective impressions about the face?

    PubMed

    Marečková, Klára; Chakravarty, M Mallar; Huang, Mei; Lawrence, Claire; Leonard, Gabriel; Perron, Michel; Pike, Bruce G; Richer, Louis; Veillette, Suzanne; Pausova, Zdenka; Paus, Tomáš

    2013-10-01

    In our previous work, we described facial features associated with a successful recognition of the sex of the face (Marečková et al., 2011). These features were based on landmarks placed on the surface of faces reconstructed from magnetic resonance (MR) images; their position was therefore influenced by both soft tissue (fat and muscle) and bone structure of the skull. Here, we ask whether bone structure has dissociable influences on observers' identification of the sex of the face. To answer this question, we used a novel method of studying skull morphology using MR images and explored the relationship between skull features, facial features, and sex recognition in a large sample of adolescents (n=876; including 475 adolescents from our original report). To determine whether skull features mediate the relationship between facial features and identification accuracy, we performed mediation analysis using bootstrapping. In males, skull features mediated fully the relationship between facial features and sex judgments. In females, the skull mediated this relationship only after adjusting facial features for the amount of body fat (estimated with bioimpedance). While body fat had a very slight positive influence on correct sex judgments about male faces, there was a robust negative influence of body fat on the correct sex judgments about female faces. Overall, these results suggest that craniofacial bone structure is essential for correct sex judgments about a male face. In females, body fat influences negatively the accuracy of sex judgments, and craniofacial bone structure alone cannot explain the relationship between facial features and identification of a face as female. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. The Child Affective Facial Expression (CAFE) set: validity and reliability from untrained adults.

    PubMed

    LoBue, Vanessa; Thrasher, Cat

    2014-01-01

    Emotional development is one of the largest and most productive areas of psychological research. For decades, researchers have been fascinated by how humans respond to, detect, and interpret emotional facial expressions. Much of the research in this area has relied on controlled stimulus sets of adults posing various facial expressions. Here we introduce a new stimulus set of emotional facial expressions into the domain of research on emotional development-The Child Affective Facial Expression set (CAFE). The CAFE set features photographs of a racially and ethnically diverse group of 2- to 8-year-old children posing for six emotional facial expressions-angry, fearful, sad, happy, surprised, and disgusted-and a neutral face. In the current work, we describe the set and report validity and reliability data on the set from 100 untrained adult participants.

  8. Measuring Facial Movement

    ERIC Educational Resources Information Center

    Ekman, Paul; Friesen, Wallace V.

    1976-01-01

    The Facial Action Code (FAC) was derived from an analysis of the anatomical basis of facial movement. The development of the method is explained, contrasting it to other methods of measuring facial behavior. An example of how facial behavior is measured is provided, and ideas about research applications are discussed. (Author)

  9. Effect of a Facial Muscle Exercise Device on Facial Rejuvenation

    PubMed Central

    Hwang, Ui-jae; Kwon, Oh-yun; Jung, Sung-hoon; Ahn, Sun-hee; Gwak, Gyeong-tae

    2018-01-01

    Abstract Background The efficacy of facial muscle exercises (FMEs) for facial rejuvenation is controversial. In the majority of previous studies, nonquantitative assessment tools were used to assess the benefits of FMEs. Objectives This study examined the effectiveness of FMEs using a Pao (MTG, Nagoya, Japan) device to quantify facial rejuvenation. Methods Fifty females were asked to perform FMEs using a Pao device for 30 seconds twice a day for 8 weeks. Facial muscle thickness and cross-sectional area were measured sonographically. Facial surface distance, surface area, and volumes were determined using a laser scanning system before and after FME. Facial muscle thickness, cross-sectional area, midfacial surface distances, jawline surface distance, and lower facial surface area and volume were compared bilaterally before and after FME using a paired Student t test. Results The cross-sectional areas of the zygomaticus major and digastric muscles increased significantly (right: P < 0.001, left: P = 0.015), while the midfacial surface distances in the middle (right: P = 0.005, left: P = 0.047) and lower (right: P = 0.028, left: P = 0.019) planes as well as the jawline surface distances (right: P = 0.004, left: P = 0.003) decreased significantly after FME using the Pao device. The lower facial surface areas (right: P = 0.005, left: P = 0.006) and volumes (right: P = 0.001, left: P = 0.002) were also significantly reduced after FME using the Pao device. Conclusions FME using the Pao device can increase facial muscle thickness and cross-sectional area, thus contributing to facial rejuvenation. Level of Evidence: 4 PMID:29365050

  10. Quantitative anatomical analysis of facial expression using a 3D motion capture system: Application to cosmetic surgery and facial recognition technology.

    PubMed

    Lee, Jae-Gi; Jung, Su-Jin; Lee, Hyung-Jin; Seo, Jung-Hyuk; Choi, You-Jin; Bae, Hyun-Sook; Park, Jong-Tae; Kim, Hee-Jin

    2015-09-01

    The topography of the facial muscles differs between males and females and among individuals of the same gender. To explain the unique expressions that people can make, it is important to define the shapes of the muscle, their associations with the skin, and their relative functions. Three-dimensional (3D) motion-capture analysis, often used to study facial expression, was used in this study to identify characteristic skin movements in males and females when they made six representative basic expressions. The movements of 44 reflective markers (RMs) positioned on anatomical landmarks were measured. Their mean displacement was large in males [ranging from 14.31 mm (fear) to 41.15 mm (anger)], and 3.35-4.76 mm smaller in females [ranging from 9.55 mm (fear) to 37.80 mm (anger)]. The percentages of RMs involved in the ten highest mean maximum displacement values in making at least one expression were 47.6% in males and 61.9% in females. The movements of the RMs were larger in males than females but were more limited. Expanding our understanding of facial expression requires morphological studies of facial muscles and studies of related complex functionality. Conducting these together with quantitative analyses, as in the present study, will yield data valuable for medicine, dentistry, and engineering, for example, for surgical operations on facial regions, software for predicting changes in facial features and expressions after corrective surgery, and the development of face-mimicking robots. © 2015 Wiley Periodicals, Inc.

  11. Distinct facial processing in schizophrenia and schizoaffective disorders

    PubMed Central

    Chen, Yue; Cataldo, Andrea; Norton, Daniel J; Ongur, Dost

    2011-01-01

    Although schizophrenia and schizoaffective disorders have both similar and differing clinical features, it is not well understood whether similar or differing pathophysiological processes mediate patients’ cognitive functions. Using psychophysical methods, this study compared the performances of schizophrenia (SZ) patients, patients with schizoaffective disorder (SA), and a healthy control group in two face-related cognitive tasks: emotion discrimination, which tested perception of facial affect, and identity discrimination, which tested perception of non-affective facial features. Compared to healthy controls, SZ patients, but not SA patients, exhibited deficient performance in both fear and happiness discrimination, as well as identity discrimination. SZ patients, but not SA patients, also showed impaired performance in a theory-of-mind task for which emotional expressions are identified based upon the eye regions of face images. This pattern of results suggests distinct processing of face information in schizophrenia and schizoaffective disorders. PMID:21868199

  12. Three-dimensional navigation is more accurate than two-dimensional navigation or conventional fluoroscopy for percutaneous sacroiliac screw fixation in the dysmorphic sacrum: a randomized multicenter study.

    PubMed

    Matityahu, Amir; Kahler, David; Krettek, Christian; Stöckle, Ulrich; Grutzner, Paul Alfred; Messmer, Peter; Ljungqvist, Jan; Gebhard, Florian

    2014-12-01

    To evaluate the accuracy of computer-assisted sacral screw fixation compared with conventional techniques in the dysmorphic versus normal sacrum. Review of a previous study database. Database of a multinational study with 9 participating trauma centers. The reviewed group included 130 patients, 72 from the navigated group and 58 from the conventional group. Of these, 109 were in the nondysmorphic group and 21 in the dysmorphic group. Placement of sacroiliac (SI) screws was performed using standard fluoroscopy for the conventional group and BrainLAB navigation software with either 2-dimensional or 3-dimensional (3D) navigation for the navigated group. Accuracy of SI screw placement by 2-dimensional and 3D navigation versus conventional fluoroscopy in dysmorphic and nondysmorphic patients, as evaluated by 6 observers using postoperative computerized tomography imaging at least 1 year after initial surgery. Intraobserver agreement was also evaluated. There were 11.9% (13/109) of patients with misplaced screws in the nondysmorphic group and 28.6% (6/21) of patients with misplaced screws in the dysmorphic group, none of which were in the 3D navigation group. Raw agreement between the 6 observers regarding misplaced screws was 32%. However, the percent overall agreement was 69.0% (kappa = 0.38, P < 0.05). The use of 3D navigation to improve intraoperative imaging for accurate insertion of SI screws is magnified in the dysmorphic proximal sacral segment. We recommend the use of 3D navigation, where available, for insertion of SI screws in patients with normal and dysmorphic proximal sacral segments. Therapeutic level I.

  13. Relative preservation of the recognition of positive facial expression "happiness" in Alzheimer disease.

    PubMed

    Maki, Yohko; Yoshida, Hiroshi; Yamaguchi, Tomoharu; Yamaguchi, Haruyasu

    2013-01-01

    Positivity recognition bias has been reported for facial expression as well as memory and visual stimuli in aged individuals, whereas emotional facial recognition in Alzheimer disease (AD) patients is controversial, with possible involvement of confounding factors such as deficits in spatial processing of non-emotional facial features and in verbal processing to express emotions. Thus, we examined whether recognition of positive facial expressions was preserved in AD patients, by adapting a new method that eliminated the influences of these confounding factors. Sensitivity of six basic facial expressions (happiness, sadness, surprise, anger, disgust, and fear) was evaluated in 12 outpatients with mild AD, 17 aged normal controls (ANC), and 25 young normal controls (YNC). To eliminate the factors related to non-emotional facial features, averaged faces were prepared as stimuli. To eliminate the factors related to verbal processing, the participants were required to match the images of stimulus and answer, avoiding the use of verbal labels. In recognition of happiness, there was no difference in sensitivity between YNC and ANC, and between ANC and AD patients. AD patients were less sensitive than ANC in recognition of sadness, surprise, and anger. ANC were less sensitive than YNC in recognition of surprise, anger, and disgust. Within the AD patient group, sensitivity of happiness was significantly higher than those of the other five expressions. In AD patient, recognition of happiness was relatively preserved; recognition of happiness was most sensitive and was preserved against the influences of age and disease.

  14. [Endoscopic treatment of small osteoma of nasal sinuses manifested as nasal and facial pain].

    PubMed

    Li, Yu; Zheng, Tianqi; Li, Zhong; Deng, Hongyuan; Guo, Chaoxian

    2015-12-01

    To discuss the clinical features, diagnosis and endoscopic surgical intervention for small steoma of nasal sinuses causing nasal and facial pain. A retrospective review was performed on 21 patients with nasal and facial pain caused by small osteoma of nasal sinuses, and nasal endoscopic surgery was included in the treatment of all cases. The nasal and facial pain of all the patients was relieved. Except for one ase exhibiting periorbital bruise after operation, the other patients showed no postoperative complications. Nasal and facial pain caused by small osteoma of nasal sinuses was clinically rare, mostly due to the neuropathic pain of nose and face caused by local compression resulting from the expansion of osteoma. Early diagnosis and operative treatment can significantly relieve nasal and facial pain.

  15. Automatic 2.5-D Facial Landmarking and Emotion Annotation for Social Interaction Assistance.

    PubMed

    Zhao, Xi; Zou, Jianhua; Li, Huibin; Dellandrea, Emmanuel; Kakadiaris, Ioannis A; Chen, Liming

    2016-09-01

    People with low vision, Alzheimer's disease, and autism spectrum disorder experience difficulties in perceiving or interpreting facial expression of emotion in their social lives. Though automatic facial expression recognition (FER) methods on 2-D videos have been extensively investigated, their performance was constrained by challenges in head pose and lighting conditions. The shape information in 3-D facial data can reduce or even overcome these challenges. However, high expenses of 3-D cameras prevent their widespread use. Fortunately, 2.5-D facial data from emerging portable RGB-D cameras provide a good balance for this dilemma. In this paper, we propose an automatic emotion annotation solution on 2.5-D facial data collected from RGB-D cameras. The solution consists of a facial landmarking method and a FER method. Specifically, we propose building a deformable partial face model and fit the model to a 2.5-D face for localizing facial landmarks automatically. In FER, a novel action unit (AU) space-based FER method has been proposed. Facial features are extracted using landmarks and further represented as coordinates in the AU space, which are classified into facial expressions. Evaluated on three publicly accessible facial databases, namely EURECOM, FRGC, and Bosphorus databases, the proposed facial landmarking and expression recognition methods have achieved satisfactory results. Possible real-world applications using our algorithms have also been discussed.

  16. Facial Fractures.

    PubMed

    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.

  17. The mysterious noh mask: contribution of multiple facial parts to the recognition of emotional expressions.

    PubMed

    Miyata, Hiromitsu; Nishimura, Ritsuko; Okanoya, Kazuo; Kawai, Nobuyuki

    2012-01-01

    A Noh mask worn by expert actors when performing on a Japanese traditional Noh drama is suggested to convey countless different facial expressions according to different angles of head/body orientation. The present study addressed the question of how different facial parts of a Noh mask, including the eyebrows, the eyes, and the mouth, may contribute to different emotional expressions. Both experimental situations of active creation and passive recognition of emotional facial expressions were introduced. In Experiment 1, participants either created happy or sad facial expressions, or imitated a face that looked up or down, by actively changing each facial part of a Noh mask image presented on a computer screen. For an upward tilted mask, the eyebrows and the mouth shared common features with sad expressions, whereas the eyes with happy expressions. This contingency tended to be reversed for a downward tilted mask. Experiment 2 further examined which facial parts of a Noh mask are crucial in determining emotional expressions. Participants were exposed to the synthesized Noh mask images with different facial parts expressing different emotions. Results clearly revealed that participants primarily used the shape of the mouth in judging emotions. The facial images having the mouth of an upward/downward tilted Noh mask strongly tended to be evaluated as sad/happy, respectively. The results suggest that Noh masks express chimeric emotional patterns, with different facial parts conveying different emotions This appears consistent with the principles of Noh which highly appreciate subtle and composite emotional expressions, as well as with the mysterious facial expressions observed in Western art. It was further demonstrated that the mouth serves as a diagnostic feature in characterizing the emotional expressions. This indicates the superiority of biologically-driven factors over the traditionally formulated performing styles when evaluating the emotions of the Noh masks.

  18. The Mysterious Noh Mask: Contribution of Multiple Facial Parts to the Recognition of Emotional Expressions

    PubMed Central

    Miyata, Hiromitsu; Nishimura, Ritsuko; Okanoya, Kazuo; Kawai, Nobuyuki

    2012-01-01

    Background A Noh mask worn by expert actors when performing on a Japanese traditional Noh drama is suggested to convey countless different facial expressions according to different angles of head/body orientation. The present study addressed the question of how different facial parts of a Noh mask, including the eyebrows, the eyes, and the mouth, may contribute to different emotional expressions. Both experimental situations of active creation and passive recognition of emotional facial expressions were introduced. Methodology/Principal Findings In Experiment 1, participants either created happy or sad facial expressions, or imitated a face that looked up or down, by actively changing each facial part of a Noh mask image presented on a computer screen. For an upward tilted mask, the eyebrows and the mouth shared common features with sad expressions, whereas the eyes with happy expressions. This contingency tended to be reversed for a downward tilted mask. Experiment 2 further examined which facial parts of a Noh mask are crucial in determining emotional expressions. Participants were exposed to the synthesized Noh mask images with different facial parts expressing different emotions. Results clearly revealed that participants primarily used the shape of the mouth in judging emotions. The facial images having the mouth of an upward/downward tilted Noh mask strongly tended to be evaluated as sad/happy, respectively. Conclusions/Significance The results suggest that Noh masks express chimeric emotional patterns, with different facial parts conveying different emotions This appears consistent with the principles of Noh which highly appreciate subtle and composite emotional expressions, as well as with the mysterious facial expressions observed in Western art. It was further demonstrated that the mouth serves as a diagnostic feature in characterizing the emotional expressions. This indicates the superiority of biologically-driven factors over the traditionally

  19. Odor Valence Linearly Modulates Attractiveness, but Not Age Assessment, of Invariant Facial Features in a Memory-Based Rating Task

    PubMed Central

    Seubert, Janina; Gregory, Kristen M.; Chamberland, Jessica; Dessirier, Jean-Marc; Lundström, Johan N.

    2014-01-01

    Scented cosmetic products are used across cultures as a way to favorably influence one's appearance. While crossmodal effects of odor valence on perceived attractiveness of facial features have been demonstrated experimentally, it is unknown whether they represent a phenomenon specific to affective processing. In this experiment, we presented odors in the context of a face battery with systematic feature manipulations during a speeded response task. Modulatory effects of linear increases of odor valence were investigated by juxtaposing subsequent memory-based ratings tasks – one predominantly affective (attractiveness) and a second, cognitive (age). The linear modulation pattern observed for attractiveness was consistent with additive effects of face and odor appraisal. Effects of odor valence on age perception were not linearly modulated and may be the result of cognitive interference. Affective and cognitive processing of faces thus appear to differ in their susceptibility to modulation by odors, likely as a result of privileged access of olfactory stimuli to affective brain networks. These results are critically discussed with respect to potential biases introduced by the preceding speeded response task. PMID:24874703

  20. Body dysmorphic disorder and eating disorders in elite professional female ballet dancers.

    PubMed

    Nascimento, Antonio Leandro; Luna, Juliano Victor; Fontenelle, Leonardo F

    2012-08-01

    Our objective is to report the prevalence and the clinical features associated with body dysmorphic disorder (BDD) and eating disorders (ED) in a group of elite Brazilian professional female ballet dancers. Thirty-five elite Brazilian professional female ballet dancers were invited to participate in the study and 19 agreed to be assessed. Individuals were evaluated with a series of instruments, including the Mini International Neuropsychiatric Interview supplemented by the somatoform and eating disorders modules of the Structured Clinical Interview for DSM-IV disorders, the Bulimic Investigatory Test, and the Beck Depression Inventory. Three dancers (15.78%) had a lifetime diagnosis of anorexia nervosa (restrictive subtype) and 2 others (10.52%) presented a current diagnosis of BDD. No individuals had current or lifetime bulimia nervosa. Results could not be ascribed to comorbid major depression or increased severity of depression. The lifetime prevalence of BDD and ED among elite professional female ballet dancers was higher than the general population. High standards of beauty, public body exposure, and repeated exposure to mirrors in the rehearsal rooms may contribute to the development of body image disorders in this sample.