Sample records for facial dysmorphism including

  1. 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.

  2. 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.

  3. 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

  4. 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.

  5. 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

  6. 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.

  7. 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.

  8. 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.

  9. 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.

  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 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

  11. [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.

  12. 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

  13. 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.

  14. 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

  15. 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.

  16. 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.

  17. 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.

  18. 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

  19. 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.

  20. 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

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. 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

  8. 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.

  9. 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.

  10. [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.

  11. 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.

  12. 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

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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

  7. 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.

  8. 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.

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. 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

  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. 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.

  16. 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.

  17. 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

  18. 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

  19. 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.

  20. 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.

  1. 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

  2. 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.

  3. 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.

  4. 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

  5. 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.

  6. 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.

    .

  7. 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

  8. 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.

  9. 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.

  10. 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…

  11. 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

  12. 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.

  13. 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.

  14. 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

  15. 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.

  16. 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

  17. 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.

  18. 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.

  19. 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.

  20. [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.

  1. 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.

  2. The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature

    PubMed Central

    Urraca, Nora; Cleary, Julie; Brewer, Victoria; Pivnick, Eniko K; McVicar, Kathryn; Thibert, Ronald L; Schanen, N Carolyn; Esmer, Carmen; Lamport, Dustin; Reiter, Lawrence T

    2013-01-01

    Chromosomal copy number variants (CNV) are the most common genetic lesion found in autism. Many autism-associated CNVs are duplications of chromosome 15q. Although most cases of interstitial (int) dup(15) that present clinically are de novo and maternally derived or inherited, both pathogenic and unaffected paternal duplications of 15q have been identified. We performed a phenotype/genotype analysis of individuals with interstitial 15q duplications to broaden our understanding of the 15q syndrome and investigate the contribution of 15q duplication to increased autism risk. All subjects were recruited solely on the basis of interstitial duplication 15q11.2-q13 status. Comparative array genome hybridization was used to determine the duplication size and boundaries while the methylation status of the maternally methylated small nuclear ribonucleoprotein polypeptide N gene was used to determine the parent of origin of the duplication. We determined the duplication size and parental origin for 14 int dup(15) subjects: 10 maternal and 4 paternal cases. The majority of int dup(15) cases recruited were maternal in origin, most likely due to our finding that maternal duplication was coincident with autism spectrum disorder. The size of the duplication did not correlate with the severity of the phenotype as established by Autism Diagnostic Observation Scale calibrated severity score. We identified phenotypes not comprehensively described before in this cohort including mild facial dysmorphism, sleep problems and an unusual electroencephalogram variant. Our results are consistent with the hypothesis that the maternally expressed ubiquitin protein ligase E3A gene is primarily responsible for the autism phenotype in int dup(15) since all maternal cases tested presented on the autism spectrum. PMID:23495136

  3. 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.

  4. 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.

  5. 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

  6. 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

  7. 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.

  8. 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.

  9. 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.

  10. ['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.

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  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. [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.

  17. 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.

  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. 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.

  20. 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.

  1. The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.

    PubMed

    Jean-Marçais, Nolwenn; Decamp, Matthieu; Gérard, Marion; Ribault, Virginie; Andrieux, Joris; Kottler, Marie-Laure; Plessis, Ghislaine

    2015-01-01

    Albright hereditary osteodystrophy (AHO)-like syndrome is also known as brachydactyly-mental retardation syndrome (BDMR; OMIM 60040). This disorder includes intellectual disability in all patients, skeletal abnormalities, including brachydactyly E (BDE) in approximately half, obesity, and facial dysmorphism. Patients with 2q37 microdeletion or HDAC4 mutation are defined as having an AHO-like phenotype with normal stimulatory G (Gs) function. HDAC4 is involved in neurological, cardiac, and skeletal function. This paper reports the first familial case of 2q37.3 interstitial deletion affecting two genes, HDAC4 and TWIST2. Patients presented with BDE and short stature without intellectual disability, showing that haploinsufficiency of the HDAC4 critical region may lead to a spectrum of phenotypes, ranging from isolated brachydactyly type E to BDMR. © 2014 Wiley Periodicals, Inc.

  2. 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…

  3. 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

  4. 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

  5. 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

  6. 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.

  7. 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

  8. 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.

  9. 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.

  10. 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…

  11. [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.

  12. 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.

  13. 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.

  14. 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.

  15. 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…

  16. 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.

  17. 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…

  18. 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

  19. 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.

  20. 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

  1. 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.

  2. Three-Dimensional Accuracy of Facial Scan for Facial Deformities in Clinics: A New Evaluation Method for Facial Scanner Accuracy.

    PubMed

    Zhao, Yi-Jiao; Xiong, Yu-Xue; Wang, Yong

    2017-01-01

    In this study, the practical accuracy (PA) of optical facial scanners for facial deformity patients in oral clinic was evaluated. Ten patients with a variety of facial deformities from oral clinical were included in the study. For each patient, a three-dimensional (3D) face model was acquired, via a high-accuracy industrial "line-laser" scanner (Faro), as the reference model and two test models were obtained, via a "stereophotography" (3dMD) and a "structured light" facial scanner (FaceScan) separately. Registration based on the iterative closest point (ICP) algorithm was executed to overlap the test models to reference models, and "3D error" as a new measurement indicator calculated by reverse engineering software (Geomagic Studio) was used to evaluate the 3D global and partial (upper, middle, and lower parts of face) PA of each facial scanner. The respective 3D accuracy of stereophotography and structured light facial scanners obtained for facial deformities was 0.58±0.11 mm and 0.57±0.07 mm. The 3D accuracy of different facial partitions was inconsistent; the middle face had the best performance. Although the PA of two facial scanners was lower than their nominal accuracy (NA), they all met the requirement for oral clinic use.

  3. 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.

  4. Outcome of facial physiotherapy in patients with prolonged idiopathic facial palsy.

    PubMed

    Watson, G J; Glover, S; Allen, S; Irving, R M

    2015-04-01

    This study investigated whether patients who remain symptomatic more than a year following idiopathic facial paralysis gain benefit from tailored facial physiotherapy. A two-year retrospective review was conducted of all symptomatic patients. Data collected included: age, gender, duration of symptoms, Sunnybrook facial grading system scores pre-treatment and at last visit, and duration of treatment. The study comprised 22 patients (with a mean age of 50.5 years (range, 22-75 years)) who had been symptomatic for more than a year following idiopathic facial paralysis. The mean duration of symptoms was 45 months (range, 12-240 months). The mean duration of follow up was 10.4 months (range, 2-36 months). Prior to treatment, the mean Sunnybrook facial grading system score was 59 (standard deviation = 3.5); this had increased to 83 (standard deviation = 2.7) at the last visit, with an average improvement in score of 23 (standard deviation = 2.9). This increase was significant (p < 0.001). Tailored facial therapy can improve facial grading scores in patients who remain symptomatic for prolonged periods.

  5. 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.

  6. 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.

  7. 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

  8. 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)

  9. Advances in facial reanimation.

    PubMed

    Tate, James R; Tollefson, Travis T

    2006-08-01

    Facial paralysis often has a significant emotional impact on patients. Along with the myriad of new surgical techniques in managing facial paralysis comes the challenge of selecting the most effective procedure for the patient. This review delineates common surgical techniques and reviews state-of-the-art techniques. The options for dynamic reanimation of the paralyzed face must be examined in the context of several patient factors, including age, overall health, and patient desires. The best functional results are obtained with direct facial nerve anastomosis and interpositional nerve grafts. In long-standing facial paralysis, temporalis muscle transfer gives a dependable and quick result. Microvascular free tissue transfer is a reliable technique with reanimation potential whose results continue to improve as microsurgical expertise increases. Postoperative results can be improved with ancillary soft tissue procedures, as well as botulinum toxin. The paper provides an overview of recent advances in facial reanimation, including preoperative assessment, surgical reconstruction options, and postoperative management.

  10. 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.

  11. Association Among Facial Paralysis, Depression, and Quality of Life in Facial Plastic Surgery Patients

    PubMed Central

    Nellis, Jason C.; Ishii, Masaru; Byrne, Patrick J.; Boahene, Kofi D. O.; Dey, Jacob K.; Ishii, Lisa E.

    2017-01-01

    IMPORTANCE Though anecdotally linked, few studies have investigated the impact of facial paralysis on depression and quality of life (QOL). OBJECTIVE To measure the association between depression, QOL, and facial paralysis in patients seeking treatment at a facial plastic surgery clinic. DESIGN, SETTING, PARTICIPANTS Data were prospectively collected for patients with all-cause facial paralysis and control patients initially presenting to a facial plastic surgery clinic from 2013 to 2015. The control group included a heterogeneous patient population presenting to facial plastic surgery clinic for evaluation. Patients who had prior facial reanimation surgery or missing demographic and psychometric data were excluded from analysis. MAIN OUTCOMES AND MEASURES Demographics, facial paralysis etiology, facial paralysis severity (graded on the House-Brackmann scale), Beck depression inventory, and QOL scores in both groups were examined. Potential confounders, including self-reported attractiveness and mood, were collected and analyzed. Self-reported scores were measured using a 0 to 100 visual analog scale. RESULTS There was a total of 263 patients (mean age, 48.8 years; 66.9% were female) were analyzed. There were 175 control patients and 88 patients with facial paralysis. Sex distributions were not significantly different between the facial paralysis and control groups. Patients with facial paralysis had significantly higher depression, lower self-reported attractiveness, lower mood, and lower QOL scores. Overall, 37 patients with facial paralysis (42.1%) screened positive for depression, with the greatest likelihood in patients with House-Brackmann grade 3 or greater (odds ratio, 10.8; 95% CI, 5.13–22.75) compared with 13 control patients (8.1%) (P < .001). In multivariate regression, facial paralysis and female sex were significantly associated with higher depression scores (constant, 2.08 [95% CI, 0.77–3.39]; facial paralysis effect, 5.98 [95% CI, 4.38–7

  12. 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

  13. 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

  14. 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…

  15. 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.

  16. 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.

  17. [Facial nerve neurinomas].

    PubMed

    Sokołowski, Jacek; Bartoszewicz, Robert; Morawski, Krzysztof; Jamróz, Barbara; Niemczyk, Kazimierz

    2013-01-01

    Evaluation of diagnostic, surgical technique, treatment results facial nerve neurinomas and its comparison with literature was the main purpose of this study. Seven cases of patients (2005-2011) with facial nerve schwannomas were included to retrospective analysis in the Department of Otolaryngology, Medical University of Warsaw. All patients were assessed with history of the disease, physical examination, hearing tests, computed tomography and/or magnetic resonance imaging, electronystagmography. Cases were observed in the direction of potential complications and recurrences. Neurinoma of the facial nerve occurred in the vertical segment (n=2), facial nerve geniculum (n=1) and the internal auditory canal (n=4). The symptoms observed in patients were analyzed: facial nerve paresis (n=3), hearing loss (n=2), dizziness (n=1). Magnetic resonance imaging and computed tomography allowed to confirm the presence of the tumor and to assess its staging. Schwannoma of the facial nerve has been surgically removed using the middle fossa approach (n=5) and by antromastoidectomy (n=2). Anatomical continuity of the facial nerve was achieved in 3 cases. In the twelve months after surgery, facial nerve paresis was rated at level II-III° HB. There was no recurrence of the tumor in radiological observation. Facial nerve neurinoma is a rare tumor. Currently surgical techniques allow in most cases, the radical removing of the lesion and reconstruction of the VII nerve function. The rate of recurrence is low. A tumor of the facial nerve should be considered in the differential diagnosis of nerve VII paresis. Copyright © 2013 Polish Otorhinolaryngology - Head and Neck Surgery Society. Published by Elsevier Urban & Partner Sp. z.o.o. All rights reserved.

  18. Reconstruction of facial nerve injuries in children.

    PubMed

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

    2011-05-01

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

  19. 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.

  20. 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 ...

  1. The Cognitive and Behavioural Phenotype of Roifman Syndrome

    ERIC Educational Resources Information Center

    de Vries, P. J.; McCartney, D. L.; McCartney, E.; Woolf, D.; Wozencroft, D.

    2006-01-01

    Background: Roifman syndrome (OMIM 300258) is a multi-system disorder with a physical phenotype that includes B-cell immunodeficiency, intra-uterine and postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy and characteristic facial dysmorphism. So far, six cases, all boys, have been reported in the literature. Roifman…

  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. 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.

  4. [Surgical treatment in otogenic facial nerve palsy].

    PubMed

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

    2008-06-01

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

  5. 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 .

  6. Marquardt’s Facial Golden Decagon Mask and Its Fitness with South Indian Facial Traits

    PubMed Central

    Gandikota, Chandra Sekhar; Yadagiri, Poornima K; Manne, Ranjit; Juvvadi, Shubhaker Rao; Farah, Tamkeen; Vattipelli, Shilpa; Gumbelli, Sangeetha

    2016-01-01

    Introduction The mathematical ratio of 1:1.618 which is famously known as golden ratio seems to appear recurrently in beautiful things in nature as well as in other things that are seen as beautiful. Dr. Marquardt developed a facial golden mask that contains and includes all of the one-dimensional and two-dimensional geometric golden elements formed from the golden ratio and he claimed that beauty is universal, beautiful faces conforms to the facial golden mask regardless of sex and race. Aim The purpose of this study was to evaluate the goodness of fit of the golden facial mask with the South Indian facial traits. Materials and Methods A total of 150 subjects (75 males & 75 females) with attractive faces were selected with cephalometric orthodontic standards of a skeletal class I relation. The facial aesthetics was confirmed by the aesthetic evaluation of the frontal photographs of the subjects by a panel of ten evaluators including five orthodontists and five maxillofacial surgeons. The well-proportioned photographs were superimposed with the Golden mask along the reference lines, to evaluate the goodness of fit. Results South Indian males and females invariably show a wider inter-zygomatic and inter-gonial width than the golden mask. Most of the South Indian females and males show decreased mid-facial height compared to the golden mask, while the total facial height is more or less equal to the golden mask. Conclusion Ethnic or individual discrepancies cannot be totally ignored as in our study the mask did not fit exactly with the South Indian facial traits but, the beauty ratios came closer to those of the mask. To overcome this difficulty, there is a need to develop variants of golden facial mask for different ethnic groups. PMID:27190951

  7. The MPI Facial Expression Database — A Validated Database of Emotional and Conversational Facial Expressions

    PubMed Central

    Kaulard, Kathrin; Cunningham, Douglas W.; Bülthoff, Heinrich H.; Wallraven, Christian

    2012-01-01

    The ability to communicate is one of the core aspects of human life. For this, we use not only verbal but also nonverbal signals of remarkable complexity. Among the latter, facial expressions belong to the most important information channels. Despite the large variety of facial expressions we use in daily life, research on facial expressions has so far mostly focused on the emotional aspect. Consequently, most databases of facial expressions available to the research community also include only emotional expressions, neglecting the largely unexplored aspect of conversational expressions. To fill this gap, we present the MPI facial expression database, which contains a large variety of natural emotional and conversational expressions. The database contains 55 different facial expressions performed by 19 German participants. Expressions were elicited with the help of a method-acting protocol, which guarantees both well-defined and natural facial expressions. The method-acting protocol was based on every-day scenarios, which are used to define the necessary context information for each expression. All facial expressions are available in three repetitions, in two intensities, as well as from three different camera angles. A detailed frame annotation is provided, from which a dynamic and a static version of the database have been created. In addition to describing the database in detail, we also present the results of an experiment with two conditions that serve to validate the context scenarios as well as the naturalness and recognizability of the video sequences. Our results provide clear evidence that conversational expressions can be recognized surprisingly well from visual information alone. The MPI facial expression database will enable researchers from different research fields (including the perceptual and cognitive sciences, but also affective computing, as well as computer vision) to investigate the processing of a wider range of natural facial expressions

  8. 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.

  9. 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

  10. 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

  11. 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.

  12. 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

  13. [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.

  14. 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.

  15. Electrical and transcranial magnetic stimulation of the facial nerve: diagnostic relevance in acute isolated facial nerve palsy.

    PubMed

    Happe, Svenja; Bunten, Sabine

    2012-01-01

    Unilateral facial weakness is common. Transcranial magnetic stimulation (TMS) allows identification of a conduction failure at the level of the canalicular portion of the facial nerve and may help to confirm the diagnosis. We retrospectively analyzed 216 patients with the diagnosis of peripheral facial palsy. The electrophysiological investigations included the blink reflex, preauricular electrical stimulation and the response to TMS at the labyrinthine part of the canalicular proportion of the facial nerve within 3 days after symptom onset. A similar reduction or loss of the TMS amplitude (p < 0.005) of the affected side was seen in each patient group. Of the 216 patients (107 female, mean age 49.7 ± 18.0 years), 193 were diagnosed with Bell's palsy. Test results of the remaining patients led to the diagnosis of infectious [including herpes simplex, varicella zoster infection and borreliosis (n = 13)] and noninfectious [including diabetes and neoplasma (n = 10)] etiology. A conduction block in TMS supports the diagnosis of peripheral facial palsy without being specific for Bell's palsy. These data shed light on the TMS-based diagnosis of peripheral facial palsy, an ability to localize the site of lesion within the Fallopian channel regardless of the underlying pathology. Copyright © 2012 S. Karger AG, Basel.

  16. Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys.

    PubMed

    Peltekova, Iskra T; Hurteau-Millar, Julie; Armour, Christine M

    2014-12-01

    Chromosome 10q deletions are rare and phenotypically diverse. Such deletions differ in length and occur in numerous regions on the long arm of chromosome 10, accounting for the wide clinical variability. Commonly reported findings include dysmorphic facial features, microcephaly, developmental delay, and genitourinary abnormalities. Here, we report on a female patient with a novel interstitial 5.54 Mb deletion at 10q24.31-q25.1. This patient had findings in common with a previously reported patient with an overlapping deletion, including renal anomalies and an orofacial cleft, but also demonstrated lobar holoprosencephaly and a Dandy-Walker malformation, features which have not been previously reported with 10q deletions. An analysis of the region deleted in our patient showed numerous genes, such as KAZALD1, PAX2, SEMA4G, ACTRA1, INA, and FGF8, whose putative functions may have played a role in the phenotype seen in our patient. © 2014 Wiley Periodicals, Inc.

  17. A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion

    PubMed Central

    Viñas-Jornet, Marina; Esteba-Castillo, Susanna; Gabau, Elisabeth; Ribas-Vidal, Núria; Baena, Neus; San, Joan; Ruiz, Anna; Coll, Maria Dolors; Novell, Ramon; Guitart, Miriam

    2014-01-01

    Deletions in the 2p16.3 region that includes the neurexin (NRXN1) gene are associated with intellectual disability and various psychiatric disorders, in particular, autism and schizophrenia. We present three unrelated patients, two adults and one child, in whom we identified an intragenic 2p16.3 deletion within the NRXN1 gene using an oligonucleotide comparative genomic hybridization array. The three patients presented dual diagnosis that consisted of mild intellectual disability and autism and bipolar disorder. Also, they all shared a dysmorphic phenotype characterized by a long face, deep set eyes, and prominent premaxilla. Genetic analysis of family members showed two inherited deletions. A comprehensive neuropsychological examination of the 2p16.3 deletion carriers revealed the same phenotype, characterized by anxiety disorder, borderline intelligence, and dysexecutive syndrome. The cognitive pattern of dysexecutive syndrome with poor working memory and reduced attention switching, mental flexibility, and verbal fluency was the same than those of the adult probands. We suggest that in addition to intellectual disability and psychiatric disease, NRXN1 deletion is a risk factor for a characteristic cognitive and dysmorphic profile. The new cognitive phenotype found in the 2p16.3 deletion carriers suggests that 2p16.3 deletions might have a wide variable expressivity instead of incomplete penetrance. PMID:25614873

  18. 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.

  19. 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

  20. 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.

  1. Contemporary solutions for the treatment of facial nerve paralysis.

    PubMed

    Garcia, Ryan M; Hadlock, Tessa A; Klebuc, Michael J; Simpson, Roger L; Zenn, Michael R; Marcus, Jeffrey R

    2015-06-01

    After reviewing this article, the participant should be able to: 1. Understand the most modern indications and technique for neurotization, including masseter-to-facial nerve transfer (fifth-to-seventh cranial nerve transfer). 2. Contrast the advantages and limitations associated with contiguous muscle transfers and free-muscle transfers for facial reanimation. 3. Understand the indications for a two-stage and one-stage free gracilis muscle transfer for facial reanimation. 4. Apply nonsurgical adjuvant treatments for acute facial nerve paralysis. Facial expression is a complex neuromotor and psychomotor process that is disrupted in patients with facial paralysis breaking the link between emotion and physical expression. Contemporary reconstructive options are being implemented in patients with facial paralysis. While static procedures provide facial symmetry at rest, true 'facial reanimation' requires restoration of facial movement. Contemporary treatment options include neurotization procedures (a new motor nerve is used to restore innervation to a viable muscle), contiguous regional muscle transfer (most commonly temporalis muscle transfer), microsurgical free muscle transfer, and nonsurgical adjuvants used to balance facial symmetry. Each approach has advantages and disadvantages along with ongoing controversies and should be individualized for each patient. Treatments for patients with facial paralysis continue to evolve in order to restore the complex psychomotor process of facial expression.

  2. Social Use of Facial Expressions in Hylobatids

    PubMed Central

    Scheider, Linda; Waller, Bridget M.; Oña, Leonardo; Burrows, Anne M.; Liebal, Katja

    2016-01-01

    Non-human primates use various communicative means in interactions with others. While primate gestures are commonly considered to be intentionally and flexibly used signals, facial expressions are often referred to as inflexible, automatic expressions of affective internal states. To explore whether and how non-human primates use facial expressions in specific communicative interactions, we studied five species of small apes (gibbons) by employing a newly established Facial Action Coding System for hylobatid species (GibbonFACS). We found that, despite individuals often being in close proximity to each other, in social (as opposed to non-social contexts) the duration of facial expressions was significantly longer when gibbons were facing another individual compared to non-facing situations. Social contexts included grooming, agonistic interactions and play, whereas non-social contexts included resting and self-grooming. Additionally, gibbons used facial expressions while facing another individual more often in social contexts than non-social contexts where facial expressions were produced regardless of the attentional state of the partner. Also, facial expressions were more likely ‘responded to’ by the partner’s facial expressions when facing another individual than non-facing. Taken together, our results indicate that gibbons use their facial expressions differentially depending on the social context and are able to use them in a directed way in communicative interactions with other conspecifics. PMID:26978660

  3. Facial nerve conduction after sclerotherapy in children with facial lymphatic malformations: report of two cases.

    PubMed

    Lin, Pei-Jung; Guo, Yuh-Cherng; Lin, Jan-You; Chang, Yu-Tang

    2007-04-01

    Surgical excision is thought to be the standard treatment of choice for lymphatic malformations. However, when the lesions are limited to the face only, surgical scar and facial nerve injury may impair cosmetics and facial expression. Sclerotherapy, an injection of a sclerosing agent directly through the skin into a lesion, is an alternative method. By evaluating facial nerve conduction, we observed the long-term effect of facial lymphatic malformations after intralesional injection of OK-432 and correlated the findings with anatomic outcomes. One 12-year-old boy with a lesion over the right-side preauricular area adjacent to the main trunk of facial nerve and the other 5-year-old boy with a lesion in the left-sided cheek involving the buccinator muscle were enrolled. The follow-up data of more than one year, including clinical appearance, computed tomography (CT) scan and facial nerve evaluation were collected. The facial nerve conduction study was normal in both cases. Blink reflex in both children revealed normal results as well. Complete resolution was noted on outward appearance and CT scan. The neurophysiologic data were compatible with good anatomic and functional outcomes. Our report suggests that the inflammatory reaction of OK-432 did not interfere with adjacent facial nerve conduction.

  4. Facial trauma: general principles of management.

    PubMed

    Hollier, Larry H; Sharabi, Safa E; Koshy, John C; Stal, Samuel

    2010-07-01

    Facial fractures are common problems encountered by the plastic surgeon. Although ubiquitous in nature, their optimal treatment requires precise knowledge of the most recent evidence-based and technologically advanced recommendations. This article discusses a variety of contemporary issues regarding facial fractures, including physical and radiologic diagnosis, treatment pearls and caveats, and the role of various synthetic materials and plating technologies for optimal facial fracture fixation.

  5. 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.

  6. 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.

  7. 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.

  8. 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

  9. 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.

  10. 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…

  11. Peripheral facial palsy in children.

    PubMed

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

    2014-11-01

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

  12. 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.

  13. 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…

  14. 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

  15. Inferring other people's states of mind: Comparison across social anxiety, body dysmorphic, and obsessive-compulsive disorders.

    PubMed

    Buhlmann, Ulrike; Wacker, Renata; Dziobek, Isabel

    2015-08-01

    Social anxiety disorder (SAD) and body dysmorphic disorder (BDD) are characterized by fears of negative evaluation by others (related to one's own incompetence or flawed appearance, respectively). Previous research has shown that individuals with SAD and BDD exhibit difficulty identifying facial expressions and interpretive biases for threat in social situations. The current study aimed at further investigating social cognition in SAD, BDD, and mentally healthy controls (35 individuals per group, respectively). Further, 35 individuals with obsessive-compulsive disorder (OCD) as a clinical control group not characterized by evaluation fears were included. The Movie for the Assessment of Social Cognition (MASC) was applied. It consists of 45 video sequences depicting interactions among four people at a dinner party. Participants are instructed to evaluate each scenario with respect to the characters' emotions, thoughts, and intentions from a bystander perspective (i.e. other-referent context). Only the socially anxious groups (SAD and BDD) were overall less accurate than the other groups in correctly interpreting the social situations, whereas no difference was obtained between the OCD and the control group. Further analyses indicated that the SAD and BDD groups were less accurate in identifying other people's thoughts and intentions, whereas, again, no difference was observed between the OCD and control groups. In addition, the SAD group was less accurate in inferring thoughts and intentions than the OCD group. Interestingly, the groups did not differ with respect to identifying other people's emotions. These results mostly confirm existing cognitive-behavioral models of SAD and BDD emphasizing that biased interpretation of what others think or intend is one of the key factors maintaining social anxiety and appearance-related concerns. Our study shows that this bias generalizes to social situations in which individuals take a third-person observer perspective

  16. 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.

  17. 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.

  18. 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.

  19. The Presentation of Body Dysmorphic Disorder in Medical Settings

    PubMed Central

    Phillips, Katharine A.

    2006-01-01

    Body dysmorphic disorder (BDD) is a relatively common psychiatric illness that often presents to mental health professionals as well as nonpsychiatric physicians. However, BDD usually goes unrecognized and undiagnosed in clinical settings. It is important to recognize and accurately diagnose BDD because this often secret illness may be debilitating. Patients with BDD typically have markedly impaired functioning, notably poor quality of life, and a high rate of suicidal ideation and suicide attempts. Thus, it is important to screen patients for BDD and avoid misdiagnosing it as another illness. Nonpsychiatric treatments (eg, dermatologic, surgical), which most patients seek and receive, appear ineffective for BDD and can be risky for physicians to provide. This article provides a clinically focused overview of BDD, including its symptoms, morbidity, case examples, nonpsychiatric (ie, cosmetic) treatment, diagnostic “do’s” and “don’ts,” and suggestions for how to persuade patients to accept appropriate psychiatric care. PMID:17183412

  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. 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

  2. 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

  3. Facial Nerve Paralysis due to Chronic Otitis Media: Prognosis in Restoration of Facial Function after Surgical Intervention

    PubMed Central

    Kim, Jin; Jung, Gu-Hyun; Park, See-Young

    2012-01-01

    Purpose Facial paralysis is an uncommon but significant complication of chronic otitis media (COM). Surgical eradication of the disease is the most viable way to overcome facial paralysis therefrom. In an effort to guide treatment of this rare complication, we analyzed the prognosis of facial function after surgical treatment. Materials and Methods A total of 3435 patients with COM, who underwent various otologic surgeries throughout a period of 20 years, were analyzed retrospectively. Forty six patients (1.33%) had facial nerve paralysis caused by COM. We analyzed prognostic factors including delay of surgery, the extent of disease, presence or absence of cholesteatoma and the type of surgery affecting surgical outcomes. Results Surgical intervention had a good effect on the restoration of facial function in cases of shorter duration of onset of facial paralysis to surgery and cases of sudden onset, without cholesteatoma. No previous ear surgery and healthy bony labyrinth indicated a good postoperative prognosis. Conclusion COM causing facial paralysis is most frequently due to cholesteatoma and the presence of cholesteatoma decreased the effectiveness of surgical treatment and indicated a poor prognosis after surgery. In our experience, early surgical intervention can be crucial to recovery of facial function. To prevent recurrent cholesteatoma, which leads to local destruction of the facial nerve, complete eradication of the disease in one procedure cannot be overemphasized for the treatment of patients with COM. PMID:22477011

  4. [Neural mechanisms of facial recognition].

    PubMed

    Nagai, Chiyoko

    2007-01-01

    We review recent researches in neural mechanisms of facial recognition in the light of three aspects: facial discrimination and identification, recognition of facial expressions, and face perception in itself. First, it has been demonstrated that the fusiform gyrus has a main role of facial discrimination and identification. However, whether the FFA (fusiform face area) is really a special area for facial processing or not is controversial; some researchers insist that the FFA is related to 'becoming an expert' for some kinds of visual objects, including faces. Neural mechanisms of prosopagnosia would be deeply concerned to this issue. Second, the amygdala seems to be very concerned to recognition of facial expressions, especially fear. The amygdala, connected with the superior temporal sulcus and the orbitofrontal cortex, appears to operate the cortical function. The amygdala and the superior temporal sulcus are related to gaze recognition, which explains why a patient with bilateral amygdala damage could not recognize only a fear expression; the information from eyes is necessary for fear recognition. Finally, even a newborn infant can recognize a face as a face, which is congruent with the innate hypothesis of facial recognition. Some researchers speculate that the neural basis of such face perception is the subcortical network, comprised of the amygdala, the superior colliculus, and the pulvinar. This network would relate to covert recognition that prosopagnosic patients have.

  5. Allergenic Ingredients in Facial Wet Wipes.

    PubMed

    Aschenbeck, Kelly A; Warshaw, Erin M

    Allergic contact dermatitis commonly occurs on the face. Facial cleansing wipes may be an underrecognized source of allergens. The aim of this study was to determine the frequency of potentially allergenic ingredients in facial wet wipes. Ingredient lists from name brand and generic facial wipes from 4 large retailers were analyzed. In the 178 facial wipes examined, a total of 485 ingredients were identified (average, 16.7 ingredients per wipe). Excluding botanicals, the top 15 potentially allergenic ingredients were glycerin (64.0%), fragrance (63.5%), phenoxyethanol (53.9%), citric acid (51.1%), disodium EDTA (44.4%), sorbic acid derivatives (39.3%), tocopherol derivatives (38.8%), polyethylene glycol derivatives (32.6%), glyceryl stearate (31.5%), sodium citrate (29.8%), glucosides (27.5%), cetearyl alcohol (25.8%), propylene glycol (25.3%), sodium benzoate (24.2%), and ceteareth-20 (23.6%)/parabens (23.6%). Of note, methylisothiazolinone (2.2%) and methylchloroisothiazolinone (1.1%) were uncommon. The top potential allergens of botanical origin included Aloe barbadensis (41.0%), chamomile extracts (27.0%), tea extracts (21.3%), Cucumis sativus (20.2%), and Hamamelis virginiana (10.7%). Many potential allergens are present in facial wet wipes, including fragrances, preservatives, botanicals, glucosides, and propylene glycol.

  6. [The history of facial paralysis].

    PubMed

    Glicenstein, J

    2015-10-01

    Facial paralysis has been a recognized condition since Antiquity, and was mentionned by Hippocratus. In the 17th century, in 1687, the Dutch physician Stalpart Van der Wiel rendered a detailed observation. It was, however, Charles Bell who, in 1821, provided the description that specified the role of the facial nerve. Facial nerve surgery began at the end of the 19th century. Three different techniques were used successively: nerve anastomosis, (XI-VII Balance 1895, XII-VII, Korte 1903), myoplasties (Lexer 1908), and suspensions (Stein 1913). Bunnell successfully accomplished the first direct facial nerve repair in the temporal bone, in 1927, and in 1932 Balance and Duel experimented with nerve grafts. Thanks to progress in microsurgical techniques, the first faciofacial anastomosis was realized in 1970 (Smith, Scaramella), and an account of the first microneurovascular muscle transfer published in 1976 by Harii. Treatment of the eyelid paralysis was at the origin of numerous operations beginning in the 1960s; including palpebral spring (Morel Fatio 1962) silicone sling (Arion 1972), upperlid loading with gold plate (Illig 1968), magnets (Muhlbauer 1973) and transfacial nerve grafts (Anderl 1973). By the end of the 20th century, surgeons had at their disposal a wide range of valid techniques for facial nerve surgery, including modernized versions of older techniques. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  7. Body dysmorphic disorder and orthodontics--an overview for clinicians.

    PubMed

    Anthony, Marshneil Trista; Farella, Mauro

    2014-11-01

    Patients with body dysmorphic disorder (BDD) often seek aesthetic medical treatment including orthodontics to correct their perceived physical defects. When the disorder pertains to the dentofacial region, it is important for orthodontists to be familiar with this condition. The purpose of this article is to provide an overview of the current knowledge on BDD and its relationship to orthodontics. PubMed, Scopus, Science Direct, and Google Scholar databases were searched for publications relating to BDD and orthodontics. Further articles were sourced from the reference lists of the articles identified through the search. The literature recommends that orthodontic patients suspected of having BDD should be referred to a psychiatrist for a definitive diagnosis and subsequent management. However, this may be difficult to implement in clinical practice. Management by a psychiatrist could include pharmacotherapy and cognitive behavioural therapy. There is still debate as to whether orthodontic treatment should be provided for these patients. As health care workers providing aesthetic treatment to patients, orthodontists should be aware of BDD and its implications. Risks include repeated requests for unnecessary treatment, dissatisfaction with the result and thus potential for litigation. BDD still remains a challenge to diagnose, and further research is needed to determine the appropriate management of orthodontic patients suffering from the disorder.

  8. 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.

  9. 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.

  10. Therapeutic strategies for patients with micropenis or penile dysmorphic disorder.

    PubMed

    Kayes, Oliver; Shabbir, Majid; Ralph, David; Minhas, Suks

    2012-09-01

    Micropenis in adults is defined as a stretched length of <7.5 cm. Many aetiologies exist, including congenital and endocrinological causes as well as pathological conditions, such as penile lichen sclerosus, trauma and genital cancer. The resulting reduction in functional penile length can lead to considerable psychosexual morbidity. Furthermore, the subset of patients with micropenis who also suffer from penile dysmorphic disorder require careful and intensive psychological counselling. Corrective surgery for micropenis can be performed in patients with realistic expectations. Total phalloplasty using radial-artery-based forearm skin flaps can offer restoration of normal penile length in selected patients. More-conservative surgical techniques to improve length or girth are limited by minimal enhancement but associated with a significantly lower rate of complications and comorbidity compared to total phalloplasty. Emerging tissue engineering techniques might represent a suitable alternative to penile replacement surgery in the future.

  11. 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

  12. 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.

  13. 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…

  14. 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.

  15. Overview of Facial Plastic Surgery and Current Developments

    PubMed Central

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

    2016-01-01

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

  16. Iatrogenic facial palsy: the cost.

    PubMed

    Pulec, J L

    1996-11-01

    The cost of iatrogenic facial paralysis can be high. Ways to avoid facial nerve injury during surgery and, should it occur, ways to minimize the disability and cost are discussed. These include adequate preparation and training by the surgeon, the exercise of sound judgment, the presence of high morals by the surgeon, adequate preoperative diagnosis and surgical instrumentation and thorough preoperative oral and written informed consent. Should facial nerve injury occur, immediate consultation and reparative decompression, anastomosis or grafting should be performed to obtain the best ultimate result. The value of prompt, competent, sympathetic and continuing concern offered by the surgeon to the patient cannot be over emphasized.

  17. Therapist guided internet based cognitive behavioural therapy for body dysmorphic disorder: single blind randomised controlled trial.

    PubMed

    Enander, Jesper; Andersson, Erik; Mataix-Cols, David; Lichtenstein, Linn; Alström, Katarina; Andersson, Gerhard; Ljótsson, Brjánn; Rück, Christian

    2016-02-02

    To evaluate the efficacy of therapist guided internet based cognitive behavioural therapy (CBT) programme for body dysmorphic disorder (BDD-NET) compared with online supportive therapy. A 12 week single blind parallel group randomised controlled trial. Academic medical centre. 94 self referred adult outpatients with a diagnosis of body dysmorphic disorder and a modified Yale-Brown obsessive compulsive scale (BDD-YBOCS) score of ≥ 20. Concurrent psychotropic drug treatment was permitted if the dose had been stable for at least two months before enrolment and remained unchanged during the trial. Participants received either BDD-NET (n=47) or supportive therapy (n=47) delivered via the internet for 12 weeks. The primary outcome was the BDD-YBOCS score after treatment and follow-up (three and six months from baseline) as evaluated by a masked assessor. Responder status was defined as a ≥ 30% reduction in symptoms on the scale. Secondary outcomes were measures of depression (MADRS-S), global functioning (GAF), clinical global improvement (CGI-I), and quality of life (EQ5D). The six month follow-up time and all outcomes other than BDD-YBOCS and MADRS-S at 3 months were not pre-specified in the registration at clinicaltrials.gov because of an administrative error but were included in the original trial protocol approved by the regional ethics committee before the start of the trial. BDD-NET was superior to supportive therapy and was associated with significant improvements in severity of symptoms of body dysmorphic disorder (BDD-YBOCS group difference -7.1 points, 95% confidence interval -9.8 to -4.4), depression (MADRS-S group difference -4.5 points, -7.5 to -1.4), and other secondary measures. At follow-up, 56% of those receiving BDD-NET were classed as responders, compared with 13% receiving supportive therapy. The number needed to treat was 2.34 (1.71 to 4.35). Self reported satisfaction was high. CBT can be delivered safely via the internet to patients with body

  18. Therapist guided internet based cognitive behavioural therapy for body dysmorphic disorder: single blind randomised controlled trial

    PubMed Central

    Andersson, Erik; Mataix-Cols, David; Lichtenstein, Linn; Alström, Katarina; Andersson, Gerhard; Ljótsson, Brjánn; Rück, Christian

    2016-01-01

    Objectives To evaluate the efficacy of therapist guided internet based cognitive behavioural therapy (CBT) programme for body dysmorphic disorder (BDD-NET) compared with online supportive therapy. Design A 12 week single blind parallel group randomised controlled trial. Setting Academic medical centre. Participants 94 self referred adult outpatients with a diagnosis of body dysmorphic disorder and a modified Yale-Brown obsessive compulsive scale (BDD-YBOCS) score of ≥20. Concurrent psychotropic drug treatment was permitted if the dose had been stable for at least two months before enrolment and remained unchanged during the trial. Interventions Participants received either BDD-NET (n=47) or supportive therapy (n=47) delivered via the internet for 12 weeks. Main outcome measures The primary outcome was the BDD-YBOCS score after treatment and follow-up (three and six months from baseline) as evaluated by a masked assessor. Responder status was defined as a ≥30% reduction in symptoms on the scale. Secondary outcomes were measures of depression (MADRS-S), global functioning (GAF), clinical global improvement (CGI-I), and quality of life (EQ5D). The six month follow-up time and all outcomes other than BDD-YBOCS and MADRS-S at 3 months were not pre-specified in the registration at clinicaltrials.gov because of an administrative error but were included in the original trial protocol approved by the regional ethics committee before the start of the trial. Results BDD-NET was superior to supportive therapy and was associated with significant improvements in severity of symptoms of body dysmorphic disorder (BDD-YBOCS group difference −7.1 points, 95% confidence interval −9.8 to −4.4), depression (MADRS-S group difference −4.5 points, −7.5 to −1.4), and other secondary measures. At follow-up, 56% of those receiving BDD-NET were classed as responders, compared with 13% receiving supportive therapy. The number needed to treat was 2.34 (1.71 to 4.35). Self

  19. Agency and facial emotion judgment in context.

    PubMed

    Ito, Kenichi; Masuda, Takahiko; Li, Liman Man Wai

    2013-06-01

    Past research showed that East Asians' belief in holism was expressed as their tendencies to include background facial emotions into the evaluation of target faces more than North Americans. However, this pattern can be interpreted as North Americans' tendency to downplay background facial emotions due to their conceptualization of facial emotion as volitional expression of internal states. Examining this alternative explanation, we investigated whether different types of contextual information produce varying degrees of effect on one's face evaluation across cultures. In three studies, European Canadians and East Asians rated the intensity of target facial emotions surrounded with either affectively salient landscape sceneries or background facial emotions. The results showed that, although affectively salient landscapes influenced the judgment of both cultural groups, only European Canadians downplayed the background facial emotions. The role of agency as differently conceptualized across cultures and multilayered systems of cultural meanings are discussed.

  20. Effect of facial neuromuscular re-education on facial symmetry in patients with Bell's palsy: a randomized controlled trial.

    PubMed

    Manikandan, N

    2007-04-01

    To determine the effect of facial neuromuscular re-education over conventional therapeutic measures in improving facial symmetry in patients with Bell's palsy. Randomized controlled trial. Neurorehabilitation unit. Fifty-nine patients diagnosed with Bell's palsy were included in the study after they met the inclusion criteria. Patients were randomly divided into two groups: control (n = 30) and experimental (n = 29). Control group patients received conventional therapeutic measures while the facial neuromuscular re-education group patients received techniques that were tailored to each patient in three sessions per day for six days per week for a period of two weeks. All the patients were evaluated using a Facial Grading Scale before treatment and after three months. The Facial Grading Scale scores showed significant improvement in both control (mean 32 (range 9.7-54) to 54.5 (42.2-71.7)) and the experimental (33 (18-43.5) to 66 (54-76.7)) group. Facial Grading Scale change scores showed that experimental group (27.5 (20-43.77)) improved significantly more than the control group (16.5 (12.2-24.7)). Analysis of Facial Grading Scale subcomponents did not show statistical significance, except in the movement score (12 (8-16) to 24 (12-18)). Individualized facial neuromuscular re-education is more effective in improving facial symmetry in patients with Bell's palsy than conventional therapeutic measures.

  1. 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…

  2. Diagnosis and surgical outcomes of intraparotid facial nerve schwannoma showing normal facial nerve function.

    PubMed

    Lee, D W; Byeon, H K; Chung, H P; Choi, E C; Kim, S-H; Park, Y M

    2013-07-01

    The findings of intraparotid facial nerve schwannoma (FNS) using preoperative diagnostic tools, including ultrasonography (US)-guided fine needle aspiration biopsy, computed tomography (CT) scan, and magnetic resonance imaging (MRI), were analyzed to determine if there are any useful findings that might suggest the presence of a lesion. Treatment guidelines are suggested. The medical records of 15 patients who were diagnosed with an intraparotid FNS were retrospectively analyzed. US and CT scans provide clinicians with only limited information; gadolinium enhanced T1-weighted images from MRI provide more specific findings. Tumors could be removed successfully with surgical exploration, preserving facial nerve function at the same time. Gadolinium-enhanced T1-weighted MRI showed more characteristic findings for the diagnosis of intraparotid FNS. Intraparotid FNS without facial palsy can be diagnosed with MRI preoperatively, and surgical exploration is a suitable treatment modality which can remove the tumor and preserve facial nerve function. Crown Copyright © 2013. Published by Elsevier Ltd. All rights reserved.

  3. 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

  4. Acupuncture treatment of facial palsy.

    PubMed

    Bokhari, Syed Zahid Hussain; Zahid, Syeda Samina

    2010-01-01

    Bell's palsy is an idiopathic, acute peripheral-nerve palsy involving the facial nerve which supplies all the muscles of facial expression. This study was conducted to evaluate the effects of electro-A=acupuncture on patients with facial palsy. This study was conducted on patients with facial palsy at a private clinic at Peshawar during 1999-2009, and 49 cases were included in the study. All those cases that were within first two weeks of illness or who had related history of stroke or they had upper motor neuron lesion were not included in the study. Electroacupuncture was used as the main therapeutic technique to treat these cases. Patients were subjected to acupuncture treatment at four major points on the face for 20-25 minutes everyday for 10 days. Specific points were used for nasolabial fold and watering of the eye. After rest for a week patients were again evaluated and another course of treatment comprising of 5-10 days was sufficient in most cases. Frequency of electro-acupuncture is kept at 60-80 cycles per minute. Total number of patients studied was 49 with duration of illness as early as 3 weeks to a year and above. Cases with duration of illness from 3 weeks onward showed rapid recovery of palsy symptoms with electro-acupuncture. All cases showed recovery. Palsy of the angle of the mouth did not recover completely. Electro-acupuncture is effective in treating facial palsy cases.

  5. 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

  6. 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)

  7. 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

  8. Parameterized Facial Expression Synthesis Based on MPEG-4

    NASA Astrophysics Data System (ADS)

    Raouzaiou, Amaryllis; Tsapatsoulis, Nicolas; Karpouzis, Kostas; Kollias, Stefanos

    2002-12-01

    In the framework of MPEG-4, one can include applications where virtual agents, utilizing both textual and multisensory data, including facial expressions and nonverbal speech help systems become accustomed to the actual feelings of the user. Applications of this technology are expected in educational environments, virtual collaborative workplaces, communities, and interactive entertainment. Facial animation has gained much interest within the MPEG-4 framework; with implementation details being an open research area (Tekalp, 1999). In this paper, we describe a method for enriching human computer interaction, focusing on analysis and synthesis of primary and intermediate facial expressions (Ekman and Friesen (1978)). To achieve this goal, we utilize facial animation parameters (FAPs) to model primary expressions and describe a rule-based technique for handling intermediate ones. A relation between FAPs and the activation parameter proposed in classical psychological studies is established, leading to parameterized facial expression analysis and synthesis notions, compatible with the MPEG-4 standard.

  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. Botulinum toxin in the management of facial paralysis.

    PubMed

    Cabin, Jonathan A; Massry, Guy G; Azizzadeh, Babak

    2015-08-01

    Complete flaccid facial paralysis, as well as the synkinetic and hyperkinetic sequelae of partial recovery, has significant impact on quality of life. Patients suffer from functional deficiencies, cosmetic deformity, discomfort and social consequences leading to emotional distress. Despite an extensive and sophisticated array of available interventions for facial reanimation, most patients have persistent issues that require consistent follow-up. In long-term management, botulinum toxin (BT) injection remains a critical tool in the treatment of the facial paralysis patient, particularly in the case of synkinesis, hyperkinesis and imbalance. We review the recent scientific literature and highlight key principles and developments in the use of BT in the management of facial paralysis, including less common applications for acute facial paralysis, hyperlacrimation and pseudoptosis. We reviewed the literature for the latest advances in the use of BT in facial paralysis, including applications and technique, as well as measurement tools and adjunct exercises. We also share our experience in treating our own patient population. BT continues to be a well tolerated and effective tool in the long-term management of facial paralysis, specifically in treating synkinesis, imbalance and hyperkinesis, as well as hyperlacrimation and pseudoptosis. Consistent measurement tools and adjunct neuromuscular retraining are crucial in the successful deployment of BT. Controversy exists as to whether BT should be used to manage facial paralysis during the acute phase, and whether BT application to the nonparalyzed face can improve long-term recovery in the paralyzed side.

  11. 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.

  12. Facial Anthropometric Norms among Kosovo - Albanian Adults.

    PubMed

    Staka, Gloria; Asllani-Hoxha, Flurije; Bimbashi, Venera

    2017-09-01

    The development of an anthropometric craniofacial database is a necessary multidisciplinary proposal. The aim of this study was to establish facial anthropometric norms and to investigate into sexual dimorphism in facial variables among Kosovo Albanian adults. The sample included 204 students of Dental School, Faculty of Medicine, University of Pristina. Using direct anthropometry, a series of 8 standard facial measurements was taken on each subject with digital caliper with an accuracy of 0.01 mm (Boss, Hamburg-Germany). The normative data and percentile rankings were calculated. Gender differences in facial variables were analyzed using t- test for independent samples (p<0.05). The index of sexual dimorphism (ISD) and percentage of sexual dimorphism were calculated for each facial measurement. ormative data for all facial anthropometric measurements in males were higher than in females. Male average norms compared with the female average norms differed significantly from each other (p>0.05).The highest index of sexual dimorphism (ISD) was found for the lower facial height 1.120, for which the highest percentage of sexual dimorphism, 12.01%., was also found. The lowest ISD was found for intercanthal width, 1.022, accompanied with the lowest percentage of sexual dimorphism, 2.23%. The obtained results have established the facial anthropometric norms among Kosovo Albanian adults. Sexual dimorphism has been confirmed for each facial measurement.

  13. 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

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

    PubMed

    Weiss, Karin; Terhal, Paulien A; Cohen, Lior; Bruccoleri, Michael; Irving, Melita; Martinez, Ariel F; Rosenfeld, Jill A; Machol, Keren; Yang, Yaping; Liu, Pengfei; Walkiewicz, Magdalena; Beuten, Joke; Gomez-Ospina, Natalia; Haude, Katrina; Fong, Chin-To; Enns, Gregory M; Bernstein, Jonathan A; Fan, Judith; Gotway, Garrett; Ghorbani, Mohammad; van Gassen, Koen; Monroe, Glen R; van Haaften, Gijs; Basel-Vanagaite, Lina; Yang, Xiang-Jiao; Campeau, Philippe M; Muenke, Maximilian

    2016-10-06

    Chromodomain helicase DNA-binding protein 4 (CHD4) is an ATP-dependent chromatin remodeler involved in epigenetic regulation of gene transcription, DNA repair, and cell cycle progression. Also known as Mi2β, CHD4 is an integral subunit of a well-characterized histone deacetylase complex. Here we report five individuals with de novo missense substitutions in CHD4 identified through whole-exome sequencing and web-based gene matching. These individuals have overlapping phenotypes including developmental delay, intellectual disability, hearing loss, macrocephaly, distinct facial dysmorphisms, palatal abnormalities, ventriculomegaly, and hypogonadism as well as additional findings such as bone fusions. The variants, c.3380G>A (p.Arg1127Gln), c.3443G>T (p.Trp1148Leu), c.3518G>T (p.Arg1173Leu), and c.3008G>A, (p.Gly1003Asp) (GenBank: NM_001273.3), affect evolutionarily highly conserved residues and are predicted to be deleterious. Previous studies in yeast showed the equivalent Arg1127 and Trp1148 residues to be crucial for SNF2 function. Furthermore, mutations in the same positions were reported in malignant tumors, and a de novo missense substitution in an equivalent arginine residue in the C-terminal helicase domain of SMARCA4 is associated with Coffin Siris syndrome. Cell-based studies of the p.Arg1127Gln and p.Arg1173Leu mutants demonstrate normal localization to the nucleus and HDAC1 interaction. Based on these findings, the mutations potentially alter the complex activity but not its formation. This report provides evidence for the role of CHD4 in human development and expands an increasingly recognized group of Mendelian disorders involving chromatin remodeling and modification. Published by Elsevier Inc.

  20. Appearance evaluation of others' faces and bodies in anorexia nervosa and body dysmorphic disorder.

    PubMed

    Moody, Teena D; Shen, Vivian W; Hutcheson, Nathan L; Henretty, Jennifer R; Sheen, Courtney L; Strober, Michael; Feusner, Jamie D

    2017-02-01

    Individuals with anorexia nervosa (AN) and body dysmorphic disorder (BDD) exhibit distorted perception and negative evaluations of their own appearance; however, little is known about how they perceive others' appearance, and whether or not the conditions share perceptual distortions. Thirty participants with BDD, 22 with AN, now weight-restored, and 39 healthy comparison participants (HC) rated photographs of others' faces and bodies on attractiveness, how overweight or underweight they were, and how much photographs triggered thoughts of their own appearance. We compared responses among groups by stimulus type and by level-of-detail (spatial frequency). Compared to HCs, AN and BDD had lower attractiveness ratings for others' bodies and faces for high-detail and low-detail images, rated bodies as more overweight, and were more triggered to think of their own appearance for faces and bodies. In AN, symptom severity was associated with greater triggering of thoughts of own appearance and higher endorsement of overweight ratings for bodies. In BDD, symptom severity was associated with greater triggering of thoughts of own appearance for bodies and higher overweight ratings for low-detail images. BDD was more triggered to think of own facial appearance than AN. AN and BDD show similar behavioral phenotypes of negative appearance evaluations for others' faces and bodies, and have thoughts of their own appearance triggered even for images outside of their primary appearance concerns, suggesting a more complex cross-disorder body-image phenotype than previously assumed. Future treatment strategies may benefit from addressing how these individuals evaluate others in addition to themselves. © 2016 Wiley Periodicals, Inc.(Int J Eat Disord 2017; 50:127-138). © 2016 Wiley Periodicals, Inc.

  1. Characteristics of 22q 11.2 deletion syndrome undiagnosed until adulthood: an example suggesting the importance of psychiatric manifestations

    PubMed Central

    Furuya, Kenta; Sasaki, Yosuke; Takeuchi, Taizo; Urita, Yoshihisa

    2015-01-01

    Patients with chromosome 22q11.2 deletion syndrome (22q11.2DS) exhibit various combinations of signs and symptoms including facial dysmorphism, thymus absence, hypoparathyroidism, cellular immunodeficiency and cardiac abnormalities caused by microdeletion of chromosome 22q11.2. Most cases are diagnosed during post-natal cardiac evaluation, though some are diagnosed at later stages. We report the case of a 39-year-old man with 22q11.2DS presenting with seizure due to tardily manifested hypocalcaemia and anxiety disorder. Our experience suggests that 22q11.2DS patients lacking fatal or well-recognised manifestations such as cardiac defects, immunodeficiency and facial dysmorphism tend to survive without medical attention, and are therefore overlooked. Recognition of the age-related variance of the manifestations, and specifically of tardily manifested hypocalcaemia and psychiatric or developmental disorders as manifestations of 22q11.2DS in adulthood, is important for diagnosis and can also help us provide appropriate medical and psychosocial support for newly diagnosed 22q11.2DS patients in adolescence or adulthood and their families. PMID:26055589

  2. Emotional facial activation induced by unconsciously perceived dynamic facial expressions.

    PubMed

    Kaiser, Jakob; Davey, Graham C L; Parkhouse, Thomas; Meeres, Jennifer; Scott, Ryan B

    2016-12-01

    Do facial expressions of emotion influence us when not consciously perceived? Methods to investigate this question have typically relied on brief presentation of static images. In contrast, real facial expressions are dynamic and unfold over several seconds. Recent studies demonstrate that gaze contingent crowding (GCC) can block awareness of dynamic expressions while still inducing behavioural priming effects. The current experiment tested for the first time whether dynamic facial expressions presented using this method can induce unconscious facial activation. Videos of dynamic happy and angry expressions were presented outside participants' conscious awareness while EMG measurements captured activation of the zygomaticus major (active when smiling) and the corrugator supercilii (active when frowning). Forced-choice classification of expressions confirmed they were not consciously perceived, while EMG revealed significant differential activation of facial muscles consistent with the expressions presented. This successful demonstration opens new avenues for research examining the unconscious emotional influences of facial expressions. Copyright © 2016 Elsevier B.V. All rights reserved.

  3. Genetic Factors That Increase Male Facial Masculinity Decrease Facial Attractiveness of Female Relatives

    PubMed Central

    Lee, Anthony J.; Mitchem, Dorian G.; Wright, Margaret J.; Martin, Nicholas G.; Keller, Matthew C.; Zietsch, Brendan P.

    2014-01-01

    For women, choosing a facially masculine man as a mate is thought to confer genetic benefits to offspring. Crucial assumptions of this hypothesis have not been adequately tested. It has been assumed that variation in facial masculinity is due to genetic variation and that genetic factors that increase male facial masculinity do not increase facial masculinity in female relatives. We objectively quantified the facial masculinity in photos of identical (n = 411) and nonidentical (n = 782) twins and their siblings (n = 106). Using biometrical modeling, we found that much of the variation in male and female facial masculinity is genetic. However, we also found that masculinity of male faces is unrelated to their attractiveness and that facially masculine men tend to have facially masculine, less-attractive sisters. These findings challenge the idea that facially masculine men provide net genetic benefits to offspring and call into question this popular theoretical framework. PMID:24379153

  4. Genetic factors that increase male facial masculinity decrease facial attractiveness of female relatives.

    PubMed

    Lee, Anthony J; Mitchem, Dorian G; Wright, Margaret J; Martin, Nicholas G; Keller, Matthew C; Zietsch, Brendan P

    2014-02-01

    For women, choosing a facially masculine man as a mate is thought to confer genetic benefits to offspring. Crucial assumptions of this hypothesis have not been adequately tested. It has been assumed that variation in facial masculinity is due to genetic variation and that genetic factors that increase male facial masculinity do not increase facial masculinity in female relatives. We objectively quantified the facial masculinity in photos of identical (n = 411) and nonidentical (n = 782) twins and their siblings (n = 106). Using biometrical modeling, we found that much of the variation in male and female facial masculinity is genetic. However, we also found that masculinity of male faces is unrelated to their attractiveness and that facially masculine men tend to have facially masculine, less-attractive sisters. These findings challenge the idea that facially masculine men provide net genetic benefits to offspring and call into question this popular theoretical framework.

  5. 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

  6. [Idiopathic facial paralysis in children].

    PubMed

    Achour, I; Chakroun, A; Ayedi, S; Ben Rhaiem, Z; Mnejja, M; Charfeddine, I; Hammami, B; Ghorbel, A

    2015-05-01

    Idiopathic facial palsy is the most common cause of facial nerve palsy in children. Controversy exists regarding treatment options. The objectives of this study were to review the epidemiological and clinical characteristics as well as the outcome of idiopathic facial palsy in children to suggest appropriate treatment. A retrospective study was conducted on children with a diagnosis of idiopathic facial palsy from 2007 to 2012. A total of 37 cases (13 males, 24 females) with a mean age of 13.9 years were included in this analysis. The mean duration between onset of Bell's palsy and consultation was 3 days. Of these patients, 78.3% had moderately severe (grade IV) or severe paralysis (grade V on the House and Brackmann grading). Twenty-seven patients were treated in an outpatient context, three patients were hospitalized, and seven patients were treated as outpatients and subsequently hospitalized. All patients received corticosteroids. Eight of them also received antiviral treatment. The complete recovery rate was 94.6% (35/37). The duration of complete recovery was 7.4 weeks. Children with idiopathic facial palsy have a very good prognosis. The complete recovery rate exceeds 90%. However, controversy exists regarding treatment options. High-quality studies have been conducted on adult populations. Medical treatment based on corticosteroids alone or combined with antiviral treatment is certainly effective in improving facial function outcomes in adults. In children, the recommendation for prescription of steroids and antiviral drugs based on adult treatment appears to be justified. Randomized controlled trials in the pediatric population are recommended to define a strategy for management of idiopathic facial paralysis. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  7. Contralateral botulinum toxin injection to improve facial asymmetry after acute facial paralysis.

    PubMed

    Kim, Jin

    2013-02-01

    The application of botulinum toxin to the healthy side of the face in patients with long-standing facial paralysis has been shown to be a minimally invasive technique that improves facial symmetry at rest and during facial motion, but our experience using botulinum toxin therapy for facial sequelae prompted the idea that botulinum toxin might be useful in acute cases of facial paralysis, leading to improve facial asymmetry. In cases in which medical or surgical treatment options are limited because of existing medical problems or advanced age, most patients with acute facial palsy are advised to await spontaneous recovery or are informed that no effective intervention exists. The purpose of this study was to evaluate the effect of botulinum toxin treatment for facial asymmetry in 18 patients after acute facial palsy who could not be optimally treated by medical or surgical management because of severe medical or other problems. From 2009 to 2011, nine patients with Bell's palsy, 5 with herpes zoster oticus and 4 with traumatic facial palsy (10 men and 8 women; age range, 22-82 yr; mean, 50.8 yr) participated in this study. Botulinum toxin A (Botox; Allergan Incorporated, Irvine, CA, USA) was injected using a tuberculin syringe with a 27-gauge needle. The amount injected per site varied from 2.5 to 3 U, and the total dose used per patient was 32 to 68 U (mean, 47.5 +/- 8.4 U). After administration of a single dose of botulinum toxin A on the nonparalyzed side of 18 patients with acute facial paralysis, marked relief of facial asymmetry was observed in 8 patients within 1 month of injection. Decreased facial asymmetry and strengthened facial function on the paralyzed side led to an increased HB and SB grade within 6 months after injection. Use of botulinum toxin after acute facial palsy cases is of great value. Such therapy decreases the relative hyperkinesis contralateral to the paralysis, leading to greater symmetric function. Especially in patients with medical

  8. Perceived functional impact of abnormal facial appearance.

    PubMed

    Rankin, Marlene; Borah, Gregory L

    2003-06-01

    appearances. Facial deformity caused by trauma, congenital disabilities, and postsurgical sequelae present with significant adverse functional consequences. Facial deformities have a significant negative effect on perceptions of social functionality, including employability, honesty, and trustworthiness. Adverse perceptions of patients with facial deformities occur regardless of sex, educational level, and age of evaluator.

  9. Facial transplantation: A concise update

    PubMed Central

    Barrera-Pulido, Fernando; Gomez-Cia, Tomas; Sicilia-Castro, Domingo; Garcia-Perla-Garcia, Alberto; Gacto-Sanchez, Purificacion; Hernandez-Guisado, Jose-Maria; Lagares-Borrego, Araceli; Narros-Gimenez, Rocio; Gonzalez-Padilla, Juan D.

    2013-01-01

    Objectives: Update on clinical results obtained by the first worldwide facial transplantation teams as well as review of the literature concerning the main surgical, immunological, ethical, and follow-up aspects described on facial transplanted patients. Study design: MEDLINE search of articles published on “face transplantation” until March 2012. Results: Eighteen clinical cases were studied. The mean patient age was 37.5 years, with a higher prevalence of men. Main surgical indication was gunshot injuries (6 patients). All patients had previously undergone multiple conventional surgical reconstructive procedures which had failed. Altogether 8 transplant teams belonging to 4 countries participated. Thirteen partial face transplantations and 5 full face transplantations have been performed. Allografts are varied according to face anatomical components and the amount of skin, muscle, bone, and other tissues included, though all were grafted successfully and remained viable without significant postoperative surgical complications. The patient with the longest follow-up was 5 years. Two patients died 2 and 27 months after transplantation. Conclusions: Clinical experience has demonstrated the feasibility of facial transplantation as a valuable reconstructive option, but it still remains considered as an experimental procedure with unresolved issues to settle down. Results show that from a clinical, technical, and immunological standpoint, facial transplantation has achieved functional, aesthetic, and social rehabilitation in severely facial disfigured patients. Key words:Face transplantation, composite tissue transplantation, face allograft, facial reconstruction, outcomes and complications of face transplantation. PMID:23229268

  10. 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.

  11. Quantitative facial asymmetry: using three-dimensional photogrammetry to measure baseline facial surface symmetry.

    PubMed

    Taylor, Helena O; Morrison, Clinton S; Linden, Olivia; Phillips, Benjamin; Chang, Johnny; Byrne, Margaret E; Sullivan, Stephen R; Forrest, Christopher R

    2014-01-01

    Although symmetry is hailed as a fundamental goal of aesthetic and reconstructive surgery, our tools for measuring this outcome have been limited and subjective. With the advent of three-dimensional photogrammetry, surface geometry can be captured, manipulated, and measured quantitatively. Until now, few normative data existed with regard to facial surface symmetry. Here, we present a method for reproducibly calculating overall facial symmetry and present normative data on 100 subjects. We enrolled 100 volunteers who underwent three-dimensional photogrammetry of their faces in repose. We collected demographic data on age, sex, and race and subjectively scored facial symmetry. We calculated the root mean square deviation (RMSD) between the native and reflected faces, reflecting about a plane of maximum symmetry. We analyzed the interobserver reliability of the subjective assessment of facial asymmetry and the quantitative measurements and compared the subjective and objective values. We also classified areas of greatest asymmetry as localized to the upper, middle, or lower facial thirds. This cluster of normative data was compared with a group of patients with subtle but increasing amounts of facial asymmetry. We imaged 100 subjects by three-dimensional photogrammetry. There was a poor interobserver correlation between subjective assessments of asymmetry (r = 0.56). There was a high interobserver reliability for quantitative measurements of facial symmetry RMSD calculations (r = 0.91-0.95). The mean RMSD for this normative population was found to be 0.80 ± 0.24 mm. Areas of greatest asymmetry were distributed as follows: 10% upper facial third, 49% central facial third, and 41% lower facial third. Precise measurement permitted discrimination of subtle facial asymmetry within this normative group and distinguished norms from patients with subtle facial asymmetry, with placement of RMSDs along an asymmetry ruler. Facial surface symmetry, which is poorly assessed

  12. Peripheral facial weakness (Bell's palsy).

    PubMed

    Basić-Kes, Vanja; Dobrota, Vesna Dermanović; Cesarik, Marijan; Matovina, Lucija Zadro; Madzar, Zrinko; Zavoreo, Iris; Demarin, Vida

    2013-06-01

    Peripheral facial weakness is a facial nerve damage that results in muscle weakness on one side of the face. It may be idiopathic (Bell's palsy) or may have a detectable cause. Almost 80% of peripheral facial weakness cases are primary and the rest of them are secondary. The most frequent causes of secondary peripheral facial weakness are systemic viral infections, trauma, surgery, diabetes, local infections, tumor, immune disorders, drugs, degenerative diseases of the central nervous system, etc. The diagnosis relies upon the presence of typical signs and symptoms, blood chemistry tests, cerebrospinal fluid investigations, nerve conduction studies and neuroimaging methods (cerebral MRI, x-ray of the skull and mastoid). Treatment of secondary peripheral facial weakness is based on therapy for the underlying disorder, unlike the treatment of Bell's palsy that is controversial due to the lack of large, randomized, controlled, prospective studies. There are some indications that steroids or antiviral agents are beneficial but there are also studies that show no beneficial effect. Additional treatments include eye protection, physiotherapy, acupuncture, botulinum toxin, or surgery. Bell's palsy has a benign prognosis with complete recovery in about 80% of patients, 15% experience some mode of permanent nerve damage and severe consequences remain in 5% of patients.

  13. 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.

  14. 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.

  15. Cross-face nerve grafting for reanimation of incomplete facial paralysis: quantitative outcomes using the FACIAL CLIMA system and patient satisfaction.

    PubMed

    Hontanilla, Bernardo; Marre, Diego; Cabello, Alvaro

    2014-01-01

    Although in most cases Bell palsy resolves spontaneously, approximately one-third of patients will present sequela including facial synkinesis and paresis. Currently, the techniques available for reanimation of these patients include hypoglossal nerve transposition, free muscle transfer, and cross-face nerve grafting (CFNG). Between December 2008 and March 2012, eight patients with incomplete unilateral facial paralysis were reanimated with two-stage CFNG. Gender, age at surgery, etiology of paralysis denervation time, donor and recipient nerves, presence of facial synkinesis, and follow-up were registered. Commissural excursion and velocity and patient satisfaction were evaluated with the FACIAL CLIMA and a questionnaire, respectively. Mean age at surgery was 33.8 ± 11.5 years; mean time of denervation was 96.6 ± 109.8 months. No complications requiring surgery were registered. Follow-up period ranged from 7 to 33 months with a mean of 19 ± 9.7 months. FACIAL CLIMA showed improvement of both commissural excursion and velocity greater than 75% in 4 patients, greater than 50% in 2 patients, and less than 50% in the remaining two patients. Qualitative evaluation revealed a high grade of satisfaction in six patients (75%). Two-stage CFNG is a reliable technique for reanimation of incomplete facial paralysis with a high grade of patient satisfaction. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  16. 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.

  17. Do Dynamic Compared to Static Facial Expressions of Happiness and Anger Reveal Enhanced Facial Mimicry?

    PubMed Central

    Rymarczyk, Krystyna; Żurawski, Łukasz; Jankowiak-Siuda, Kamila; Szatkowska, Iwona

    2016-01-01

    Facial mimicry is the spontaneous response to others’ facial expressions by mirroring or matching the interaction partner. Recent evidence suggested that mimicry may not be only an automatic reaction but could be dependent on many factors, including social context, type of task in which the participant is engaged, or stimulus properties (dynamic vs static presentation). In the present study, we investigated the impact of dynamic facial expression and sex differences on facial mimicry and judgment of emotional intensity. Electromyography recordings were recorded from the corrugator supercilii, zygomaticus major, and orbicularis oculi muscles during passive observation of static and dynamic images of happiness and anger. The ratings of the emotional intensity of facial expressions were also analysed. As predicted, dynamic expressions were rated as more intense than static ones. Compared to static images, dynamic displays of happiness also evoked stronger activity in the zygomaticus major and orbicularis oculi, suggesting that subjects experienced positive emotion. No muscles showed mimicry activity in response to angry faces. Moreover, we found that women exhibited greater zygomaticus major muscle activity in response to dynamic happiness stimuli than static stimuli. Our data support the hypothesis that people mimic positive emotions and confirm the importance of dynamic stimuli in some emotional processing. PMID:27390867

  18. Facial trauma.

    PubMed

    Peeters, N; Lemkens, P; Leach, R; Gemels B; Schepers, S; Lemmens, W

    Facial trauma. Patients with facial trauma must be assessed in a systematic way so as to avoid missing any injury. Severe and disfiguring facial injuries can be distracting. However, clinicians must first focus on the basics of trauma care, following the Advanced Trauma Life Support (ATLS) system of care. Maxillofacial trauma occurs in a significant number of severely injured patients. Life- and sight-threatening injuries must be excluded during the primary and secondary surveys. Special attention must be paid to sight-threatening injuries in stabilized patients through early referral to an appropriate specialist or the early initiation of emergency care treatment. The gold standard for the radiographic evaluation of facial injuries is computed tomography (CT) imaging. Nasal fractures are the most frequent isolated facial fractures. Isolated nasal fractures are principally diagnosed through history and clinical examination. Closed reduction is the most frequently performed treatment for isolated nasal fractures, with a fractured nasal septum as a predictor of failure. Ear, nose and throat surgeons, maxillofacial surgeons and ophthalmologists must all develop an adequate treatment plan for patients with complex maxillofacial trauma.

  19. Suicidality in Body Dysmorphic Disorder: A Prospective Study

    PubMed Central

    Phillips, Katharine A.; Menard, William

    2006-01-01

    Objective Cross-sectional/retrospective data have indicated that individuals with body dysmorphic disorder (BDD) have high rates of suicidal ideation and attempts. However, no study, to the authors' knowledge, has prospectively examined suicidality in BDD. Method In the first prospective study of BDD's course, the authors examined suicidality in 185 subjects for up to 4 years. Results Suicidal ideation was reported by a mean of 57.8% of the subjects per year, and a mean of 2.6% attempted suicide per year. Two subjects (0.3% per year) completed suicide. Conclusions Individuals with BDD have high rates of suicidal ideation and attempts. The completed suicide rate is preliminary but suggests that the rate of completed suicide in BDD is markedly high. PMID:16816236

  20. The Facially Disfigured Child.

    ERIC Educational Resources Information Center

    Moncada, Georgia A.

    1987-01-01

    The article reviews diagnosis and treatments for facially disfigured children including craniofacial reconstruction and microsurgical techniques. Noted are associated disease processes that affect the social and intellectual outcomes of the afflicted child. (Author/DB)

  1. Delayed facial nerve decompression for Bell's palsy.

    PubMed

    Kim, Sang Hoon; Jung, Junyang; Lee, Jong Ha; Byun, Jae Yong; Park, Moon Suh; Yeo, Seung Geun

    2016-07-01

    Incomplete recovery of facial motor function continues to be long-term sequelae in some patients with Bell's palsy. The purpose of this study was to investigate the efficacy of transmastoid facial nerve decompression after steroid and antiviral treatment in patients with late stage Bell's palsy. Twelve patients underwent surgical decompression for Bell's palsy 21-70 days after onset, whereas 22 patients were followed up after steroid and antiviral therapy without decompression. Surgical criteria included greater than 90 % degeneration on electroneuronography and no voluntary electromyography potentials. This study was a retrospective study of electrodiagnostic data and medical chart review between 2006 and 2013. Recovery from facial palsy was assessed using the House-Brackmann grading system. Final recovery rate did not differ significantly in the two groups; however, all patients in the decompression group recovered to at least House-Brackmann grade III at final follow-up. Although postoperative hearing threshold was increased in both groups, there was no significant between group difference in hearing threshold. Transmastoid decompression of the facial nerve in patients with severe late stage Bell's palsy at risk for a poor facial nerve outcome reduced severe complications of facial palsy with minimal morbidity.

  2. Perception of health from facial cues

    PubMed Central

    Henderson, Audrey J.; Holzleitner, Iris J.; Talamas, Sean N.

    2016-01-01

    Impressions of health are integral to social interactions, yet poorly understood. A review of the literature reveals multiple facial characteristics that potentially act as cues to health judgements. The cues vary in their stability across time: structural shape cues including symmetry and sexual dimorphism alter slowly across the lifespan and have been found to have weak links to actual health, but show inconsistent effects on perceived health. Facial adiposity changes over a medium time course and is associated with both perceived and actual health. Skin colour alters over a short time and has strong effects on perceived health, yet links to health outcomes have barely been evaluated. Reviewing suggested an additional influence of demeanour as a perceptual cue to health. We, therefore, investigated the association of health judgements with multiple facial cues measured objectively from two-dimensional and three-dimensional facial images. We found evidence for independent contributions of face shape and skin colour cues to perceived health. Our empirical findings: (i) reinforce the role of skin yellowness; (ii) demonstrate the utility of global face shape measures of adiposity; and (iii) emphasize the role of affect in facial images with nominally neutral expression in impressions of health. PMID:27069057

  3. Slowing down presentation of facial movements and vocal sounds enhances facial expression recognition and induces facial-vocal imitation in children with autism.

    PubMed

    Tardif, Carole; Lainé, France; Rodriguez, Mélissa; Gepner, Bruno

    2007-09-01

    This study examined the effects of slowing down presentation of facial expressions and their corresponding vocal sounds on facial expression recognition and facial and/or vocal imitation in children with autism. Twelve autistic children and twenty-four normal control children were presented with emotional and non-emotional facial expressions on CD-Rom, under audio or silent conditions, and under dynamic visual conditions (slowly, very slowly, at normal speed) plus a static control. Overall, children with autism showed lower performance in expression recognition and more induced facial-vocal imitation than controls. In the autistic group, facial expression recognition and induced facial-vocal imitation were significantly enhanced in slow conditions. Findings may give new perspectives for understanding and intervention for verbal and emotional perceptive and communicative impairments in autistic populations.

  4. Facial fractures in children.

    PubMed

    Boyette, Jennings R

    2014-10-01

    Facial trauma in children differs from adults. The growing facial skeleton presents several challenges to the reconstructive surgeon. A thorough understanding of the patterns of facial growth and development is needed to form an individualized treatment strategy. A proper diagnosis must be made and treatment options weighed against the risk of causing further harm to facial development. This article focuses on the management of facial fractures in children. Discussed are common fracture patterns based on the development of the facial structure, initial management, diagnostic strategies, new concepts and old controversies regarding radiologic examinations, conservative versus operative intervention, risks of growth impairment, and resorbable fixation. Copyright © 2014 Elsevier Inc. All rights reserved.

  5. Slowing down Presentation of Facial Movements and Vocal Sounds Enhances Facial Expression Recognition and Induces Facial-Vocal Imitation in Children with Autism

    ERIC Educational Resources Information Center

    Tardif, Carole; Laine, France; Rodriguez, Melissa; Gepner, Bruno

    2007-01-01

    This study examined the effects of slowing down presentation of facial expressions and their corresponding vocal sounds on facial expression recognition and facial and/or vocal imitation in children with autism. Twelve autistic children and twenty-four normal control children were presented with emotional and non-emotional facial expressions on…

  6. Static facial expression recognition with convolution neural networks

    NASA Astrophysics Data System (ADS)

    Zhang, Feng; Chen, Zhong; Ouyang, Chao; Zhang, Yifei

    2018-03-01

    Facial expression recognition is a currently active research topic in the fields of computer vision, pattern recognition and artificial intelligence. In this paper, we have developed a convolutional neural networks (CNN) for classifying human emotions from static facial expression into one of the seven facial emotion categories. We pre-train our CNN model on the combined FER2013 dataset formed by train, validation and test set and fine-tune on the extended Cohn-Kanade database. In order to reduce the overfitting of the models, we utilized different techniques including dropout and batch normalization in addition to data augmentation. According to the experimental result, our CNN model has excellent classification performance and robustness for facial expression recognition.

  7. Chronic, burning facial pain following cosmetic facial surgery.

    PubMed

    Eisenberg, E; Yaari, A; Har-Shai, Y

    1996-01-01

    Chronic, burning facial pain as a result of cosmetic facial surgery has rarely been reported. During the year of 1994, two female patients presented themselves at our Pain Relief Clinic with chronic facial pain that developed following aesthetic facial surgery. One patient underwent bilateral transpalpebral surgery for removal of intraorbital fat for the correction of the exophthalmus, and the other had classical face and anterior hairline forehead lifts. Pain in both patients was similar in that it was bilateral, symmetric, burning in quality, and aggravated by external stimuli, mainly light touch. It was resistant to multiple analgesic medications, and was associated with significant depression and disability. Diagnostic local (lidocaine) and systemic (lidocaine and phentolamine) nerve blocks failed to provide relief. Psychological evaluation revealed that the two patients had clear psychosocial factors that seemed to have further compounded their pain complaints. Tricyclic antidepressants (and biofeedback training in one patient) were modestly effective and produced only partial pain relief.

  8. Facial attractiveness.

    PubMed

    Little, Anthony C

    2014-11-01

    Facial attractiveness has important social consequences. Despite a widespread belief that beauty cannot be defined, in fact, there is considerable agreement across individuals and cultures on what is found attractive. By considering that attraction and mate choice are critical components of evolutionary selection, we can better understand the importance of beauty. There are many traits that are linked to facial attractiveness in humans and each may in some way impart benefits to individuals who act on their preferences. If a trait is reliably associated with some benefit to the perceiver, then we would expect individuals in a population to find that trait attractive. Such an approach has highlighted face traits such as age, health, symmetry, and averageness, which are proposed to be associated with benefits and so associated with facial attractiveness. This view may postulate that some traits will be universally attractive; however, this does not preclude variation. Indeed, it would be surprising if there existed a template of a perfect face that was not affected by experience, environment, context, or the specific needs of an individual. Research on facial attractiveness has documented how various face traits are associated with attractiveness and various factors that impact on an individual's judgments of facial attractiveness. Overall, facial attractiveness is complex, both in the number of traits that determine attraction and in the large number of factors that can alter attraction to particular faces. A fuller understanding of facial beauty will come with an understanding of how these various factors interact with each other. WIREs Cogn Sci 2014, 5:621-634. doi: 10.1002/wcs.1316 CONFLICT OF INTEREST: The author has declared no conflicts of interest for this article. For further resources related to this article, please visit the WIREs website. © 2014 John Wiley & Sons, Ltd.

  9. 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.

  10. 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

  11. Children's Facial Trustworthiness Judgments: Agreement and Relationship with Facial Attractiveness.

    PubMed

    Ma, Fengling; Xu, Fen; Luo, Xianming

    2016-01-01

    This study examined developmental changes in children's abilities to make trustworthiness judgments based on faces and the relationship between a child's perception of trustworthiness and facial attractiveness. One hundred and one 8-, 10-, and 12-year-olds, along with 37 undergraduates, were asked to judge the trustworthiness of 200 faces. Next, they issued facial attractiveness judgments. The results indicated that children made consistent trustworthiness and attractiveness judgments based on facial appearance, but with-adult and within-age agreement levels of facial judgments increased with age. Additionally, the agreement levels of judgments made by girls were higher than those by boys. Furthermore, the relationship between trustworthiness and attractiveness judgments increased with age, and the relationship between two judgments made by girls was closer than those by boys. These findings suggest that face-based trait judgment ability develops throughout childhood and that, like adults, children may use facial attractiveness as a heuristic cue that signals a stranger's trustworthiness.

  12. Children's Facial Trustworthiness Judgments: Agreement and Relationship with Facial Attractiveness

    PubMed Central

    Ma, Fengling; Xu, Fen; Luo, Xianming

    2016-01-01

    This study examined developmental changes in children's abilities to make trustworthiness judgments based on faces and the relationship between a child's perception of trustworthiness and facial attractiveness. One hundred and one 8-, 10-, and 12-year-olds, along with 37 undergraduates, were asked to judge the trustworthiness of 200 faces. Next, they issued facial attractiveness judgments. The results indicated that children made consistent trustworthiness and attractiveness judgments based on facial appearance, but with-adult and within-age agreement levels of facial judgments increased with age. Additionally, the agreement levels of judgments made by girls were higher than those by boys. Furthermore, the relationship between trustworthiness and attractiveness judgments increased with age, and the relationship between two judgments made by girls was closer than those by boys. These findings suggest that face-based trait judgment ability develops throughout childhood and that, like adults, children may use facial attractiveness as a heuristic cue that signals a stranger's trustworthiness. PMID:27148111

  13. 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

  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. Brain responses to facial attractiveness induced by facial proportions: evidence from an fMRI study

    PubMed Central

    Shen, Hui; Chau, Desmond K. P.; Su, Jianpo; Zeng, Ling-Li; Jiang, Weixiong; He, Jufang; Fan, Jintu; Hu, Dewen

    2016-01-01

    Brain responses to facial attractiveness induced by facial proportions are investigated by using functional magnetic resonance imaging (fMRI), in 41 young adults (22 males and 19 females). The subjects underwent fMRI while they were presented with computer-generated, yet realistic face images, which had varying facial proportions, but the same neutral facial expression, baldhead and skin tone, as stimuli. Statistical parametric mapping with parametric modulation was used to explore the brain regions with the response modulated by facial attractiveness ratings (ARs). The results showed significant linear effects of the ARs in the caudate nucleus and the orbitofrontal cortex for all of the subjects, and a non-linear response profile in the right amygdala for only the male subjects. Furthermore, canonical correlation analysis was used to learn the most relevant facial ratios that were best correlated with facial attractiveness. A regression model on the fMRI-derived facial ratio components demonstrated a strong linear relationship between the visually assessed mean ARs and the predictive ARs. Overall, this study provided, for the first time, direct neurophysiologic evidence of the effects of facial ratios on facial attractiveness and suggested that there are notable gender differences in perceiving facial attractiveness as induced by facial proportions. PMID:27779211

  16. Brain responses to facial attractiveness induced by facial proportions: evidence from an fMRI study.

    PubMed

    Shen, Hui; Chau, Desmond K P; Su, Jianpo; Zeng, Ling-Li; Jiang, Weixiong; He, Jufang; Fan, Jintu; Hu, Dewen

    2016-10-25

    Brain responses to facial attractiveness induced by facial proportions are investigated by using functional magnetic resonance imaging (fMRI), in 41 young adults (22 males and 19 females). The subjects underwent fMRI while they were presented with computer-generated, yet realistic face images, which had varying facial proportions, but the same neutral facial expression, baldhead and skin tone, as stimuli. Statistical parametric mapping with parametric modulation was used to explore the brain regions with the response modulated by facial attractiveness ratings (ARs). The results showed significant linear effects of the ARs in the caudate nucleus and the orbitofrontal cortex for all of the subjects, and a non-linear response profile in the right amygdala for only the male subjects. Furthermore, canonical correlation analysis was used to learn the most relevant facial ratios that were best correlated with facial attractiveness. A regression model on the fMRI-derived facial ratio components demonstrated a strong linear relationship between the visually assessed mean ARs and the predictive ARs. Overall, this study provided, for the first time, direct neurophysiologic evidence of the effects of facial ratios on facial attractiveness and suggested that there are notable gender differences in perceiving facial attractiveness as induced by facial proportions.

  17. [Peripheral facial nerve lesion induced long-term dendritic retraction in pyramidal cortico-facial neurons].

    PubMed

    Urrego, Diana; Múnera, Alejandro; Troncoso, Julieta

    2011-01-01

    Little evidence is available concerning the morphological modifications of motor cortex neurons associated with peripheral nerve injuries, and the consequences of those injuries on post lesion functional recovery. Dendritic branching of cortico-facial neurons was characterized with respect to the effects of irreversible facial nerve injury. Twenty-four adult male rats were distributed into four groups: sham (no lesion surgery), and dendritic assessment at 1, 3 and 5 weeks post surgery. Eighteen lesion animals underwent surgical transection of the mandibular and buccal branches of the facial nerve. Dendritic branching was examined by contralateral primary motor cortex slices stained with the Golgi-Cox technique. Layer V pyramidal (cortico-facial) neurons from sham and injured animals were reconstructed and their dendritic branching was compared using Sholl analysis. Animals with facial nerve lesions displayed persistent vibrissal paralysis throughout the five week observation period. Compared with control animal neurons, cortico-facial pyramidal neurons of surgically injured animals displayed shrinkage of their dendritic branches at statistically significant levels. This shrinkage persisted for at least five weeks after facial nerve injury. Irreversible facial motoneuron axonal damage induced persistent dendritic arborization shrinkage in contralateral cortico-facial neurons. This morphological reorganization may be the physiological basis of functional sequelae observed in peripheral facial palsy patients.

  18. Facial anthropometry of Hong Kong Chinese babies.

    PubMed

    Fok, T F; Hon, K L; So, H K; Wong, E; Ng, P C; Lee, A K Y; Chang, A

    2003-08-01

    To provide a database of the craniofacial measurements of Chinese infants born in Hong Kong. Prospective cross-sectional study. A total of 2371 healthy singleton, born consecutively at the Prince of Wales Hospital and the Union Hospital from June 1998 to June 2000, were included in the study. The range of gestation was 33-42 weeks. Measurements included facial width (FW), facial height (FH), nasal length (NL), nasal width (NW), and length of the philtrum (PhilL). The facial, nasal, nasofacial and nasozygomatic indices were derived. The data show generally higher values for males in the parameters measured. The various indices remained remarkably constant and did not vary significantly between the two genders or with gestation. When compared with previously published data for white people term babies, Chinese babies have similar NW but shorter philtrum length. The human face appears to grow in a remarkably constant fashion as defined by the various indices of facial proportions. This study establishes the first set of gestational age-specific standard of such craniofacial parameters for Chinese new-borns, potentially enabling early syndromal diagnosis. There are significant inter-racial differences in these craniofacial parameters.

  19. Repeated short presentations of morphed facial expressions change recognition and evaluation of facial expressions.

    PubMed

    Moriya, Jun; Tanno, Yoshihiko; Sugiura, Yoshinori

    2013-11-01

    This study investigated whether sensitivity to and evaluation of facial expressions varied with repeated exposure to non-prototypical facial expressions for a short presentation time. A morphed facial expression was presented for 500 ms repeatedly, and participants were required to indicate whether each facial expression was happy or angry. We manipulated the distribution of presentations of the morphed facial expressions for each facial stimulus. Some of the individuals depicted in the facial stimuli expressed anger frequently (i.e., anger-prone individuals), while the others expressed happiness frequently (i.e., happiness-prone individuals). After being exposed to the faces of anger-prone individuals, the participants became less sensitive to those individuals' angry faces. Further, after being exposed to the faces of happiness-prone individuals, the participants became less sensitive to those individuals' happy faces. We also found a relative increase in the social desirability of happiness-prone individuals after exposure to the facial stimuli.

  20. 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.

  1. Multivariate Pattern Classification of Facial Expressions Based on Large-Scale Functional Connectivity.

    PubMed

    Liang, Yin; Liu, Baolin; Li, Xianglin; Wang, Peiyuan

    2018-01-01

    It is an important question how human beings achieve efficient recognition of others' facial expressions in cognitive neuroscience, and it has been identified that specific cortical regions show preferential activation to facial expressions in previous studies. However, the potential contributions of the connectivity patterns in the processing of facial expressions remained unclear. The present functional magnetic resonance imaging (fMRI) study explored whether facial expressions could be decoded from the functional connectivity (FC) patterns using multivariate pattern analysis combined with machine learning algorithms (fcMVPA). We employed a block design experiment and collected neural activities while participants viewed facial expressions of six basic emotions (anger, disgust, fear, joy, sadness, and surprise). Both static and dynamic expression stimuli were included in our study. A behavioral experiment after scanning confirmed the validity of the facial stimuli presented during the fMRI experiment with classification accuracies and emotional intensities. We obtained whole-brain FC patterns for each facial expression and found that both static and dynamic facial expressions could be successfully decoded from the FC patterns. Moreover, we identified the expression-discriminative networks for the static and dynamic facial expressions, which span beyond the conventional face-selective areas. Overall, these results reveal that large-scale FC patterns may also contain rich expression information to accurately decode facial expressions, suggesting a novel mechanism, which includes general interactions between distributed brain regions, and that contributes to the human facial expression recognition.

  2. Multivariate Pattern Classification of Facial Expressions Based on Large-Scale Functional Connectivity

    PubMed Central

    Liang, Yin; Liu, Baolin; Li, Xianglin; Wang, Peiyuan

    2018-01-01

    It is an important question how human beings achieve efficient recognition of others’ facial expressions in cognitive neuroscience, and it has been identified that specific cortical regions show preferential activation to facial expressions in previous studies. However, the potential contributions of the connectivity patterns in the processing of facial expressions remained unclear. The present functional magnetic resonance imaging (fMRI) study explored whether facial expressions could be decoded from the functional connectivity (FC) patterns using multivariate pattern analysis combined with machine learning algorithms (fcMVPA). We employed a block design experiment and collected neural activities while participants viewed facial expressions of six basic emotions (anger, disgust, fear, joy, sadness, and surprise). Both static and dynamic expression stimuli were included in our study. A behavioral experiment after scanning confirmed the validity of the facial stimuli presented during the fMRI experiment with classification accuracies and emotional intensities. We obtained whole-brain FC patterns for each facial expression and found that both static and dynamic facial expressions could be successfully decoded from the FC patterns. Moreover, we identified the expression-discriminative networks for the static and dynamic facial expressions, which span beyond the conventional face-selective areas. Overall, these results reveal that large-scale FC patterns may also contain rich expression information to accurately decode facial expressions, suggesting a novel mechanism, which includes general interactions between distributed brain regions, and that contributes to the human facial expression recognition. PMID:29615882

  3. Facial Resurfacing With Coblation Technology

    PubMed Central

    Weber, Stephen M.; Downs, Brian W.; Ferraz, Mario B.J.; Wang, Tom D.; Cook, Ted A.

    2008-01-01

    Objective To describe our experience with coblation technology for facial resurfacing Methods Retrospective chart review of all patients treated with coblation at our institution Results Twenty-four patients (22 female) underwent a total of 29 coblation procedures for aging face (n = 21) or acne scarring (n = 3). The perioral region was the most frequently treated aesthetic subunit (n = 14), followed by the lower eyelid (n = 7). Five patients underwent full-face coblation. Three patients underwent a second coblation procedure for aging face while a single patient with severe acne scarring underwent 3 procedures. Repeat coblation was delayed at least 5 months (mean, 9 months). Seventeen coblation procedures (59%) were performed concurrently with procedures including, but not limited to, injection treatment, rhinoplasty, blepharoplasty, or combined face/necklift; no adverse events occurred. Seven procedures, including a full-face coblation, were performed in the office under local anesthesia and oral sedation without any adverse events. Mean follow-up was 6 months (range, 1 week to 24 months). No complications were observed. All patients were satisfied with the results after their final coblation treatment. Conclusions Facial coblation is a safe and effective treatment modality for facial resurfacing. PMID:18769690

  4. Masseteric-facial nerve transposition for reanimation of the smile in incomplete facial paralysis.

    PubMed

    Hontanilla, Bernardo; Marre, Diego

    2015-12-01

    Incomplete facial paralysis occurs in about a third of patients with Bell's palsy. Although their faces are symmetrical at rest, when they smile they have varying degrees of disfigurement. Currently, cross-face nerve grafting is one of the most useful techniques for reanimation. Transfer of the masseteric nerve, although widely used for complete paralysis, has not to our knowledge been reported for incomplete palsy. Between December 2008 and November 2013, we reanimated the faces of 9 patients (2 men and 7 women) with incomplete unilateral facial paralysis with transposition of the masseteric nerve. Sex, age at operation, cause of paralysis, duration of denervation, recipient nerves used, and duration of follow-up were recorded. Commissural excursion, velocity, and patients' satisfaction were evaluated with the FACIAL CLIMA and a questionnaire, respectively. The mean (SD) age at operation was 39 (±6) years and the duration of denervation was 29 (±19) months. There were no complications that required further intervention. Duration of follow-up ranged from 6-26 months. FACIAL CLIMA showed improvement in both commissural excursion and velocity of more than two thirds in 6 patients, more than one half in 2 patients and less than one half in one. Qualitative evaluation showed a slight or pronounced improvement in 7/9 patients. The masseteric nerve is a reliable alternative for reanimation of the smile in patients with incomplete facial paralysis. Its main advantages include its consistent anatomy, a one-stage operation, and low morbidity at the donor site. Copyright © 2015 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  5. 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.

  6. Genetics Home Reference: genitopatellar syndrome

    MedlinePlus

    ... hypoplasia, renal anomalies, facial dysmorphism, and mental retardation GPS Related Information How are genetic conditions and genes ... Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L. Genitopatellar syndrome: expanding the phenotype and excluding mutations ...

  7. Anatomical variations of the facial nerve in first branchial cleft anomalies.

    PubMed

    Solares, C Arturo; Chan, James; Koltai, Peter J

    2003-03-01

    To review our experience with branchial cleft anomalies, with special attention to their subtypes and anatomical relationship to the facial nerve. Case series. Tertiary care center. Ten patients who underwent resection for anomalies of the first branchial cleft, with at least 1 year of follow-up, were included in the study. The data from all cases were collected in a prospective fashion, including immediate postoperative diagrams. Complete resection of the branchial cleft anomaly was performed in all cases. Wide exposure of the facial nerve was achieved using a modified Blair incision and superficial parotidectomy. Facial nerve monitoring was used in every case. The primary outcome measurements were facial nerve function and incidence of recurrence after resection of the branchial cleft anomaly. Ten patients, 6 females and 4 males,with a mean age of 9 years at presentation, were treated by the senior author (P.J.K.) between 1989 and 2001. The lesions were characterized as sinus tracts (n = 5), fistulous tracts (n = 3), and cysts (n = 2). Seven lesions were medial to the facial nerve, 2 were lateral to the facial nerve, and 1 was between branches of the facial nerve. There were no complications related to facial nerve paresis or paralysis, and none of the patients has had a recurrence. The successful treatment of branchial cleft anomalies requires a complete resection. A safe complete resection requires a full exposure of the facial nerve, as the lesions can be variably associated with the nerve.

  8. Caricaturing facial expressions.

    PubMed

    Calder, A J; Rowland, D; Young, A W; Nimmo-Smith, I; Keane, J; Perrett, D I

    2000-08-14

    The physical differences between facial expressions (e.g. fear) and a reference norm (e.g. a neutral expression) were altered to produce photographic-quality caricatures. In Experiment 1, participants rated caricatures of fear, happiness and sadness for their intensity of these three emotions; a second group of participants rated how 'face-like' the caricatures appeared. With increasing levels of exaggeration the caricatures were rated as more emotionally intense, but less 'face-like'. Experiment 2 demonstrated a similar relationship between emotional intensity and level of caricature for six different facial expressions. Experiments 3 and 4 compared intensity ratings of facial expression caricatures prepared relative to a selection of reference norms - a neutral expression, an average expression, or a different facial expression (e.g. anger caricatured relative to fear). Each norm produced a linear relationship between caricature and rated intensity of emotion; this finding is inconsistent with two-dimensional models of the perceptual representation of facial expression. An exemplar-based multidimensional model is proposed as an alternative account.

  9. 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.

  10. Recent advances in understanding and managing body dysmorphic disorder

    PubMed Central

    Krebs, Georgina; Fernández de la Cruz, Lorena; Mataix-Cols, David

    2017-01-01

    Body dysmorphic disorder (BDD) is a relatively common and disabling psychiatric disorder characterised by excessive and persistent preoccupation with perceived defects or flaws in one's appearance, which are unnoticeable to others, and associated repetitive behaviours (eg, mirror checking). The disorder generally starts in adolescence, but often goes unnoticed and is severely underdiagnosed. Left untreated, BDD typically persists and causes marked functional impairment in multiple domains. This clinical review considers recent advances in the epidemiology and classification of BDD, including its reclassification in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders under the new ‘Obsessive–Compulsive and Related Disorders’ chapter. Key issues in assessment are outlined including the use of validated screening instruments to minimise misdiagnosis and the importance of risk assessment in this population given the high rates of suicidality and inappropriate use of cosmetic treatments. In addition, current knowledge regarding the causes and mechanisms underlying BDD are summarised. The recommended treatments for BDD are outlined, namely cognitive behavioural therapy (CBT) and antidepressants, such as selective serotonin reuptake inhibitors. Both CBT and pharmacotherapy have been shown to be efficacious treatments for BDD in adult populations, and evidence is emerging to support their use in young people. Although the majority of patients improve with existing evidence-based treatment, a large proportion are left with clinically significant residual symptoms. Priorities for future research are therefore discussed including the need to further refine and evaluate existing interventions with the goal of improving treatment outcomes and to increase their availability. PMID:28729345

  11. A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.

    PubMed

    Ozantürk, Ayşegül; Davis, Erica E; Sabo, Aniko; Weiss, Marjan M; Muzny, Donna; Dugan-Perez, Shannon; Sistermans, Erik A; Gibbs, Richard A; Özgül, Köksal R; Yalnızoglu, Dilek; Serdaroglu, Esra; Dursun, Ali; Katsanis, Nicholas

    2016-03-01

    Genetic studies grounded on monogenic paradigms have accelerated both gene discovery and molecular diagnosis. At the same time, complex genomic rearrangements are also appreciated as potent drivers of disease pathology. Here, we report two male siblings with a dysmorphic face, ambiguous genitalia, intellectual disability, and speech delay. Through quad-based whole-exome sequencing and concomitant molecular cytogenetic testing, we identified two copy-number variants (CNVs) in both affected individuals likely arising from a balanced translocation: a 13.5-Mb duplication on Chromosome 16 (16q23.1 → 16qter) and a 7.7-Mb deletion on Chromosome 5 (5p15.31 → 5pter), as well as a hemizygous missense variant in CXorf36 (also known as DIA1R). The 5p terminal deletion has been associated previously with speech delay, whereas craniofacial dysmorphia and genital/urinary anomalies have been reported in patients with a terminal duplication of 16q. However, dosage changes in either genomic region alone could not account for the overall clinical presentation in our family; functional testing of CXorf36 in zebrafish did not induce defects in neurogenesis or the craniofacial skeleton. Notably, literature and database analysis revealed a similar dosage disruption in two siblings with extensive phenotypic overlap with our patients. Taken together, our data suggest that dosage perturbation of genes within the two chromosomal regions likely drives the syndromic manifestations of our patients and highlight how multiple genetic lesions can contribute to complex clinical pathologies.

  12. 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.

  13. Facial reanimation by muscle-nerve neurotization after facial nerve sacrifice. Case report.

    PubMed

    Taupin, A; Labbé, D; Babin, E; Fromager, G

    2016-12-01

    Recovering a certain degree of mimicry after sacrifice of the facial nerve is a clinically recognized finding. The authors report a case of hemifacial reanimation suggesting a phenomenon of neurotization from muscle-to-nerve. A woman benefited from a parotidectomy with sacrifice of the left facial nerve indicated for recurrent tumor in the gland. The distal branches of the facial nerve, isolated at the time of resection, were buried in the masseter muscle underneath. The patient recovered a voluntary hémifacial motricity. The electromyographic analysis of the motor activity of the zygomaticus major before and after block of the masseter nerve showed a dependence between mimic muscles and the masseter muscle. Several hypotheses have been advanced to explain the spontaneous reanimation of facial paralysis. The clinical case makes it possible to argue in favor of muscle-to-nerve neurotization from masseter muscle to distal branches of the facial nerve. It illustrates the quality of motricity that can be obtained thanks to this procedure. The authors describe a simple implantation technique of distal branches of the facial nerve in the masseter muscle during a radical parotidectomy with facial nerve sacrifice and recovery of resting tone but also a quality voluntary mimicry. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  14. Anaplastology in times of facial transplantation: Still a reasonable treatment option?

    PubMed

    Toso, Sabine Maria; Menzel, Kerstin; Motzkus, Yvonne; Klein, Martin; Menneking, Horst; Raguse, Jan-Dirk; Nahles, Susanne; Hoffmeister, Bodo; Adolphs, Nicolai

    2015-09-01

    Optimum functional and aesthetic facial reconstruction is still a challenge in patients who suffer from inborn or acquired facial deformity. It is known that functional and aesthetic impairment can result in significant psychosocial strain, leading to the social isolation of patients who are affected by major facial deformities. Microvascular techniques and increasing experience in facial transplantation certainly contribute to better restorative outcomes. However, these technologies also have some drawbacks, limitations and unsolved problems. Extensive facial defects which include several aesthetic units and dentition can be restored by combining dental prostheses and anaplastology, thus providing an adequate functional and aesthetic outcome in selected patients without the drawbacks of major surgical procedures. Referring to some representative patient cases, it is shown how extreme facial disfigurement after oncological surgery can be palliated by combining intraoral dentures with extraoral facial prostheses using individualized treatment and without the need for major reconstructive surgery. Copyright © 2015 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  15. [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.

  16. 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

  17. [Body dysmorphic disorder: clinical aspects, nosological dimensions and controversies with anorexia nervosa].

    PubMed

    Behar, Rosa; Arancibia, Marcelo; Heitzer, Cristóbal; Meza, Nicolás

    2016-05-01

    There is strong evidence about the co-existence of body dysmorphic disorder (BDD) and eating disorders (ED), particularly with anorexia nervosa (AN). An exhaustive review of the specialised literature regarding these disorders was carried out. The results show that their co-occurrence implies a more complex diagnosis and treatment, a more severe clinical symptomatology and a worse prognosis and outcome. Both disorders display common similarities, differences and comorbidities, which allow authors to classify them in different nosological spectra (somatomorphic, anxious, obsessive-compulsive, affective and psychotic). Their crossover involves higher levels of body dissatisfaction and body image distortion, depression, suicidal tendency, personality disorders, substance use/abuse, obsessive-compulsive disorder, social phobia, alexithymia and childhood abuse or neglect background. Treatment including cognitive-behavioral psychotherapy and selective reuptake serotonin inhibitors are effective for both, BDD and ED; nevertheless, plastic surgery could exacerbate BDD. Clinical traits of BDD must be systematically detected in patients suffering from ED and vice versa.

  18. Changing perception: facial reanimation surgery improves attractiveness and decreases negative facial perception.

    PubMed

    Dey, Jacob K; Ishii, Masaru; Boahene, Kofi D O; Byrne, Patrick J; Ishii, Lisa E

    2014-01-01

    Determine the effect of facial reanimation surgery on observer-graded attractiveness and negative facial perception of patients with facial paralysis. Randomized controlled experiment. Ninety observers viewed images of paralyzed faces, smiling and in repose, before and after reanimation surgery, as well as normal comparison faces. Observers rated the attractiveness of each face and characterized the paralyzed faces by rating severity, disfigured/bothersome, and importance to repair. Iterated factor analysis indicated these highly correlated variables measure a common domain, so they were combined to create the disfigured, important to repair, bothersome, severity (DIBS) factor score. Mixed effects linear regression determined the effect of facial reanimation surgery on attractiveness and DIBS score. Facial paralysis induces an attractiveness penalty of 2.51 on a 10-point scale for faces in repose and 3.38 for smiling faces. Mixed effects linear regression showed that reanimation surgery improved attractiveness for faces both in repose and smiling by 0.84 (95% confidence interval [CI]: 0.67, 1.01) and 1.24 (95% CI: 1.07, 1.42) respectively. Planned hypothesis tests confirmed statistically significant differences in attractiveness ratings between postoperative and normal faces, indicating attractiveness was not completely normalized. Regression analysis also showed that reanimation surgery decreased DIBS by 0.807 (95% CI: 0.704, 0.911) for faces in repose and 0.989 (95% CI: 0.886, 1.093), an entire standard deviation, for smiling faces. Facial reanimation surgery increases attractiveness and decreases negative facial perception of patients with facial paralysis. These data emphasize the need to optimize reanimation surgery to restore not only function, but also symmetry and cosmesis to improve facial perception and patient quality of life. © 2013 The American Laryngological, Rhinological and Otological Society, Inc.

  19. Trisomy 21 and Facial Developmental Instability

    PubMed Central

    Starbuck, John M.; Cole, Theodore M.; Reeves, Roger H.; Richtsmeier, Joan T.

    2013-01-01

    The most common live-born human aneuploidy is trisomy 21, which causes Down syndrome (DS). Dosage imbalance of genes on chromosome 21 (Hsa21) affects complex gene-regulatory interactions and alters development to produce a wide range of phenotypes, including characteristic facial dysmorphology. Little is known about how trisomy 21 alters craniofacial morphogenesis to create this characteristic appearance. Proponents of the “amplified developmental instability” hypothesis argue that trisomy 21 causes a generalized genetic imbalance that disrupts evolutionarily conserved developmental pathways by decreasing developmental homeostasis and precision throughout development. Based on this model, we test the hypothesis that DS faces exhibit increased developmental instability relative to euploid individuals. Developmental instability was assessed by a statistical analysis of fluctuating asymmetry. We compared the magnitude and patterns of fluctuating asymmetry among siblings using three-dimensional coordinate locations of 20 anatomic landmarks collected from facial surface reconstructions in four age-matched samples ranging from 4 to 12 years: 1) DS individuals (n=55); 2) biological siblings of DS individuals (n=55); 3) and 4) two samples of typically developing individuals (n=55 for each sample), who are euploid siblings and age-matched to the DS individuals and their euploid siblings (samples 1 and 2). Identification in the DS sample of facial prominences exhibiting increased fluctuating asymmetry during facial morphogenesis provides evidence for increased developmental instability in DS faces. We found the highest developmental instability in facial structures derived from the mandibular prominence and lowest in facial regions derived from the frontal prominence. PMID:23505010

  20. Trisomy 21 and facial developmental instability.

    PubMed

    Starbuck, John M; Cole, Theodore M; Reeves, Roger H; Richtsmeier, Joan T

    2013-05-01

    The most common live-born human aneuploidy is trisomy 21, which causes Down syndrome (DS). Dosage imbalance of genes on chromosome 21 (Hsa21) affects complex gene-regulatory interactions and alters development to produce a wide range of phenotypes, including characteristic facial dysmorphology. Little is known about how trisomy 21 alters craniofacial morphogenesis to create this characteristic appearance. Proponents of the "amplified developmental instability" hypothesis argue that trisomy 21 causes a generalized genetic imbalance that disrupts evolutionarily conserved developmental pathways by decreasing developmental homeostasis and precision throughout development. Based on this model, we test the hypothesis that DS faces exhibit increased developmental instability relative to euploid individuals. Developmental instability was assessed by a statistical analysis of fluctuating asymmetry. We compared the magnitude and patterns of fluctuating asymmetry among siblings using three-dimensional coordinate locations of 20 anatomic landmarks collected from facial surface reconstructions in four age-matched samples ranging from 4 to 12 years: (1) DS individuals (n = 55); (2) biological siblings of DS individuals (n = 55); 3) and 4) two samples of typically developing individuals (n = 55 for each sample), who are euploid siblings and age-matched to the DS individuals and their euploid siblings (samples 1 and 2). Identification in the DS sample of facial prominences exhibiting increased fluctuating asymmetry during facial morphogenesis provides evidence for increased developmental instability in DS faces. We found the highest developmental instability in facial structures derived from the mandibular prominence and lowest in facial regions derived from the frontal prominence. Copyright © 2013 Wiley Periodicals, Inc.

  1. Effects of damping head movement and facial expression in dyadic conversation using real–time facial expression tracking and synthesized avatars

    PubMed Central

    Boker, Steven M.; Cohn, Jeffrey F.; Theobald, Barry-John; Matthews, Iain; Brick, Timothy R.; Spies, Jeffrey R.

    2009-01-01

    When people speak with one another, they tend to adapt their head movements and facial expressions in response to each others' head movements and facial expressions. We present an experiment in which confederates' head movements and facial expressions were motion tracked during videoconference conversations, an avatar face was reconstructed in real time, and naive participants spoke with the avatar face. No naive participant guessed that the computer generated face was not video. Confederates' facial expressions, vocal inflections and head movements were attenuated at 1 min intervals in a fully crossed experimental design. Attenuated head movements led to increased head nods and lateral head turns, and attenuated facial expressions led to increased head nodding in both naive participants and confederates. Together, these results are consistent with a hypothesis that the dynamics of head movements in dyadicconversation include a shared equilibrium. Although both conversational partners were blind to the manipulation, when apparent head movement of one conversant was attenuated, both partners responded by increasing the velocity of their head movements. PMID:19884143

  2. Relationship between Social Anxiety Disorder and Body Dysmorphic Disorder

    PubMed Central

    Fang, Angela; Hofmann, Stefan G.

    2010-01-01

    Social anxiety disorder (SAD) and body dysmorphic disorder (BDD) are two separate, but conceptually overlapping nosological entities. In this review, we examine similarities between SAD and BDD in comorbidity, phenomenology, cognitive biases, treatment outcome, and cross-cultural aspects. Our review suggests that SAD and BDD are highly comorbid, show a similar age of onset, share a chronic trajectory, and show similar cognitive biases for interpreting ambiguous social information in a negative manner. Furthermore, research from treatment outcome studies have demonstrated that improvements in SAD were significantly correlated with improvements in BDD. Findings from cross-cultural research suggest that BDD may be conceived as a subtype of SAD in some Eastern cultures. Directions for future research and clinical implications of these findings are discussed. PMID:20817336

  3. Automated Facial Recognition of Computed Tomography-Derived Facial Images: Patient Privacy Implications.

    PubMed

    Parks, Connie L; Monson, Keith L

    2017-04-01

    The recognizability of facial images extracted from publically available medical scans raises patient privacy concerns. This study examined how accurately facial images extracted from computed tomography (CT) scans are objectively matched with corresponding photographs of the scanned individuals. The test subjects were 128 adult Americans ranging in age from 18 to 60 years, representing both sexes and three self-identified population (ancestral descent) groups (African, European, and Hispanic). Using facial recognition software, the 2D images of the extracted facial models were compared for matches against five differently sized photo galleries. Depending on the scanning protocol and gallery size, in 6-61 % of the cases, a correct life photo match for a CT-derived facial image was the top ranked image in the generated candidate lists, even when blind searching in excess of 100,000 images. In 31-91 % of the cases, a correct match was located within the top 50 images. Few significant differences (p > 0.05) in match rates were observed between the sexes or across the three age cohorts. Highly significant differences (p < 0.01) were, however, observed across the three ancestral cohorts and between the two CT scanning protocols. Results suggest that the probability of a match between a facial image extracted from a medical scan and a photograph of the individual is moderately high. The facial image data inherent in commonly employed medical imaging modalities may need to consider a potentially identifiable form of "comparable" facial imagery and protected as such under patient privacy legislation.

  4. 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

  5. Long-Term Facial Nerve Outcomes after Microsurgical Resection of Vestibular Schwannomas in Patients with Preoperative Facial Nerve Palsy.

    PubMed

    Mooney, Michael A; Hendricks, Benjamin; Sarris, Christina E; Spetzler, Robert F; Almefty, Kaith K; Porter, Randall W

    2018-06-01

    Objectives  This study aimed at evaluating facial nerve outcomes in vestibular schwannoma patients presenting with preoperative facial nerve palsy. Design  A retrospective review. Setting  Single-institution cohort. Participants  Overall, 368 consecutive patients underwent vestibular schwannoma resection. Patients with prior microsurgery or radiosurgery were excluded. Main Outcome Measures  Incidence, House-Brackmann grade. Results  Of 368 patients, 9 had confirmed preoperative facial nerve dysfunction not caused by prior treatment, for an estimated incidence of 2.4%. Seven of these nine patients had Koos grade 4 tumors. Mean tumor diameter was 3.0 cm (range: 2.1-4.4 cm), and seven of nine tumors were subtotally resected. All nine patients were followed up clinically for ≥ 6 months. Of the six patients with a preoperative House-Brackmann grade of II, two improved to grade I, three were stable, and one patient worsened to grade III. Of the three patients with grade III or worse, all remained stable at last follow-up. Conclusions  Preoperative facial nerve palsy is rare in patients with vestibular schwannoma; it tends to occur in patients with relatively large lesions. Detailed long-term outcomes of facial nerve function after microsurgical resection for these patients have not been reported previously. We followed nine patients and found that eight (89%) of the nine patients had either stable or improved facial nerve outcomes after treatment. Management strategies varied for these patients, including rates of subtotal versus gross-total resection and the use of stereotactic radiosurgery in patients with residual tumor. These results can be used to help counsel patients preoperatively on expected outcomes of facial nerve function after treatment.

  6. 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.

  7. 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.

  8. Retrospective study of primary reconstruction of facial traumatic events.

    PubMed

    Chen, Baoguo; Song, Huifeng; Gao, Quanwen; Xu, Minghuo; Chai, Jiake

    2017-02-01

    Facial traumatic events are commonly encountered in plastic and reconstructive surgery. Primary reconstruction is a reliable procedure with function and aesthetic considerations. We conduct a retrospective study of the experience of reconstructing facial traumatic defects in the first stage. One hundred and thirty-two cases (aged 18-65) with facial traumatic events were recruited in the study from 2008 to 2014. Facial traumatic events included injured soft tissue, maxillofacial fractures and facial nerve rupture, which were repaired primarily. After primary reconstruction, encouraging functional and aesthetic outcomes were attained. Ten cases were re-operated to reconstruct partial nasal defect. Four patients who had trouble with disabled occluding relations sought help from dentists. Inconspicuous scar and function restoration were presented. Facial wounds should be reconstructed in the first stage as far as possible. Then, satisfactory functional and aesthetic results can be achieved. However, combined injury should be carefully considered in those traumatic cases before we carry out the reconstructive surgery on the face. © 2016 Medicalhelplines.com Inc and John Wiley & Sons Ltd.

  9. 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

  10. 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

  11. 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.

  12. The Not Face: A grammaticalization of facial expressions of emotion

    PubMed Central

    Benitez-Quiroz, C. Fabian; Wilbur, Ronnie B.; Martinez, Aleix M.

    2016-01-01

    Facial expressions of emotion are thought to have evolved from the development of facial muscles used in sensory regulation and later adapted to express moral judgment. Negative moral judgment includes the expressions of anger, disgust and contempt. Here, we study the hypothesis that these facial expressions of negative moral judgment have further evolved into a facial expression of negation regularly used as a grammatical marker in human language. Specifically, we show that people from different cultures expressing negation use the same facial muscles as those employed to express negative moral judgment. We then show that this nonverbal signal is used as a co-articulator in speech and that, in American Sign Language, it has been grammaticalized as a non-manual marker. Furthermore, this facial expression of negation exhibits the theta oscillation (3–8 Hz) universally seen in syllable and mouthing production in speech and signing. These results provide evidence for the hypothesis that some components of human language have evolved from facial expressions of emotion, and suggest an evolutionary route for the emergence of grammatical markers. PMID:26872248

  13. [The application of facial liposuction and fat grafting in the remodeling of facial contour].

    PubMed

    Wen, Huicai; Ma, Li; Sui, Ynnpeng; Jian, Xueping

    2015-03-01

    To investigate the application of facial liposuction and fat grafting in the remodeling of facial contour. From Nov. 2008 to Mar. 2014, 49 cases received facial liposuction and fat grafting to improve facial contours. Subcutaneous facial liposuction with tumescent technique and chin fat grafting were performed in all the cases, buccal fat pad excision of fat in 7 cases, the masseter injection of botulinum toxin type A in 9 cases, temporal fat grafting in 25 cases, forehead fat grafting in 15 cases. Marked improvement was achieved in all the patients with stable results during the follow-up period of 6 - 24 months. Complications, such as asymmetric, unsmooth and sagging were retreated with acceptance results. Combination application of liposuction and fat grafting can effectively and easily improve the facial contour with low risk.

  14. Botulinum toxin treatment for facial palsy: A systematic review.

    PubMed

    Cooper, Lilli; Lui, Michael; Nduka, Charles

    2017-06-01

    Facial palsy may be complicated by ipsilateral synkinesis or contralateral hyperkinesis. Botulinum toxin is increasingly used in the management of facial palsy; however, the optimum dose, treatment interval, adjunct therapy and performance as compared with alternative treatments have not been well established. This study aimed to systematically review the evidence for the use of botulinum toxin in facial palsy. The Cochrane central register of controlled trials (CENTRAL), MEDLINE(R) (1946 to September 2015) and Embase Classic + Embase (1947 to September 2015) were searched for randomised studies using botulinum toxin in facial palsy. Forty-seven studies were identified, and three included. Their physical and patient-reported outcomes are described, and observations and cautions are discussed. Facial asymmetry has a strong correlation to subjective domains such as impairment in social interaction and perception of self-image and appearance. Botulinum toxin injections represent a minimally invasive technique that is helpful in restoring facial symmetry at rest and during movement in chronic, and potentially acute, facial palsy. Botulinum toxin in combination with physical therapy may be particularly helpful. Currently, there is a paucity of data; areas for further research are suggested. A strong body of evidence may allow botulinum toxin treatment to be nationally standardised and recommended in the management of facial palsy. Copyright © 2017 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  15. 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

  16. Facial diplegia: a clinical dilemma.

    PubMed

    Chakrabarti, Debaprasad; Roy, Mukut; Bhattacharyya, Amrit K

    2013-06-01

    Bilateral facial paralysis is a rare clinical entity and presents as a diagnostic challenge. Unlike its unilateral counterpart facial diplegia is seldom secondary to Bell's palsy. Occurring at a frequency of 0.3% to 2% of all facial palsies it often indicates ominous medical conditions. Guillian-Barre syndrome needs to be considered as a differential in all given cases of facial diplegia where timely treatment would be rewarding. Here a case of bilateral facial palsy due to Guillian-Barre syndrome with atypical presentation is reported.

  17. Effects of Objective 3-Dimensional Measures of Facial Shape and Symmetry on Perceptions of Facial Attractiveness.

    PubMed

    Hatch, Cory D; Wehby, George L; Nidey, Nichole L; Moreno Uribe, Lina M

    2017-09-01

    Meeting patient desires for enhanced facial esthetics requires that providers have standardized and objective methods to measure esthetics. The authors evaluated the effects of objective 3-dimensional (3D) facial shape and asymmetry measurements derived from 3D facial images on perceptions of facial attractiveness. The 3D facial images of 313 adults in Iowa were digitized with 32 landmarks, and objective 3D facial measurements capturing symmetric and asymmetric components of shape variation, centroid size, and fluctuating asymmetry were obtained from the 3D coordinate data using geo-morphometric analyses. Frontal and profile images of study participants were rated for facial attractiveness by 10 volunteers (5 women and 5 men) on a 5-point Likert scale and a visual analog scale. Multivariate regression was used to identify the effects of the objective 3D facial measurements on attractiveness ratings. Several objective 3D facial measurements had marked effects on attractiveness ratings. Shorter facial heights with protrusive chins, midface retrusion, faces with protrusive noses and thin lips, flat mandibular planes with deep labiomental folds, any cants of the lip commissures and floor of the nose, larger faces overall, and increased fluctuating asymmetry were rated as significantly (P < .001) less attractive. Perceptions of facial attractiveness can be explained by specific 3D measurements of facial shapes and fluctuating asymmetry, which have important implications for clinical practice and research. Copyright © 2017 American Association of Oral and Maxillofacial Surgeons. Published by Elsevier Inc. All rights reserved.

  18. Visual attention during the evaluation of facial attractiveness is influenced by facial angles and smile.

    PubMed

    Kim, Seol Hee; Hwang, Soonshin; Hong, Yeon-Ju; Kim, Jae-Jin; Kim, Kyung-Ho; Chung, Chooryung J

    2018-05-01

    To examine the changes in visual attention influenced by facial angles and smile during the evaluation of facial attractiveness. Thirty-three young adults were asked to rate the overall facial attractiveness (task 1 and 3) or to select the most attractive face (task 2) by looking at multiple panel stimuli consisting of 0°, 15°, 30°, 45°, 60°, and 90° rotated facial photos with or without a smile for three model face photos and a self-photo (self-face). Eye gaze and fixation time (FT) were monitored by the eye-tracking device during the performance. Participants were asked to fill out a subjective questionnaire asking, "Which face was primarily looked at when evaluating facial attractiveness?" When rating the overall facial attractiveness (task 1) for model faces, FT was highest for the 0° face and lowest for the 90° face regardless of the smile ( P < .01). However, when the most attractive face was to be selected (task 2), the FT of the 0° face decreased, while it significantly increased for the 45° face ( P < .001). When facial attractiveness was evaluated with the simplified panels combined with facial angles and smile (task 3), the FT of the 0° smiling face was the highest ( P < .01). While most participants reported that they looked mainly at the 0° smiling face when rating facial attractiveness, visual attention was broadly distributed within facial angles. Laterally rotated faces and presence of a smile highly influence visual attention during the evaluation of facial esthetics.

  19. Hypoglossal-facial nerve "side"-to-side neurorrhaphy for facial paralysis resulting from closed temporal bone fractures.

    PubMed

    Su, Diya; Li, Dezhi; Wang, Shiwei; Qiao, Hui; Li, Ping; Wang, Binbin; Wan, Hong; Schumacher, Michael; Liu, Song

    2018-06-06

    Closed temporal bone fractures due to cranial trauma often result in facial nerve injury, frequently inducing incomplete facial paralysis. Conventional hypoglossal-facial nerve end-to-end neurorrhaphy may not be suitable for these injuries because sacrifice of the lesioned facial nerve for neurorrhaphy destroys the remnant axons and/or potential spontaneous innervation. we modified the classical method by hypoglossal-facial nerve "side"-to-side neurorrhaphy using an interpositional predegenerated nerve graft to treat these injuries. Five patients who experienced facial paralysis resulting from closed temporal bone fractures due to cranial trauma were treated with the "side"-to-side neurorrhaphy. An additional 4 patients did not receive the neurorrhaphy and served as controls. Before treatment, all patients had suffered House-Brackmann (H-B) grade V or VI facial paralysis for a mean of 5 months. During the 12-30 months of follow-up period, no further detectable deficits were observed, but an improvement in facial nerve function was evidenced over time in the 5 neurorrhaphy-treated patients. At the end of follow-up, the improved facial function reached H-B grade II in 3, grade III in 1 and grade IV in 1 of the 5 patients, consistent with the electrophysiological examinations. In the control group, two patients showed slightly spontaneous innervation with facial function improved from H-B grade VI to V, and the other patients remained unchanged at H-B grade V or VI. We concluded that the hypoglossal-facial nerve "side"-to-side neurorrhaphy can preserve the injured facial nerve and is suitable for treating significant incomplete facial paralysis resulting from closed temporal bone fractures, providing an evident beneficial effect. Moreover, this treatment may be performed earlier after the onset of facial paralysis in order to reduce the unfavorable changes to the injured facial nerve and atrophy of its target muscles due to long-term denervation and allow axonal

  20. 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.

  1. Useful surgical techniques for facial nerve preservation in tumorous intra-temporal lesions.

    PubMed

    Kim, Jin; Moon, In Seok; Lee, Jong Dae; Shim, Dae Bo; Lee, Won-Sang

    2010-02-01

    The management of the facial nerve in tumorous temporal lesions is particularly challenging due to its complex anatomic location and potential postoperative complications, including permanent facial paralysis. The most important concern regarding surgical treatment of a tumorous temporal lesion is the inevitable facial paralysis caused by nerve injury during the tumor removal, especially in patients with minimal to no preoperative facial nerve dysfunction. We describe successful four cases in which various surgical techniques were developed for the preservation of the facial nerve in treatment of intratemporal tumorous lesions. Copyright (c) 2009 Elsevier Ireland Ltd. All rights reserved.

  2. Cognitive factors associated with facial pain.

    PubMed

    Schwartz, S M; Gramling, S E

    1997-07-01

    Most well-accepted etiological models of facial pain (e.g., temporomandibular disorders and headache) implicate emotional distress as an important factor in the development and maintenance of pain. Data exists to support the notion that some facial pain sufferers are more emotionally distressed than no pain controls. However, many of these dependent measures of emotional distress are either lengthy assessment batteries, lack clear cut psychotherapeutic treatment implications, or focus exclusively on pain related sequela. As cognitive-behavioral interventions become more integrated into the treatment of chronic pain conditions, including various facial pain conditions, it becomes more imperative that the tools used to assess psychological functioning provide the clinician with specific cognitive/behavioral targets for change. The purpose of this study was to assess the degree to which symptomatic treatment seeking facial pain sufferers (N = 25), symptomatic non-treatment seeking facial pain sufferers (N = 48), and healthy pain-free controls (N = 70) differed on the Rational Beliefs Inventory (RBI). The RBI is a reliable, valid questionnaire assessing rational beliefs that are operationalized within a Rational Emotive Therapy (RET) framework. RET is a cognitive-behavioral treatment paradigm that focuses on how an individual's maladaptive cognitive errors or distortions exacerbate emotional distress. Group differences were assessed using a oneway Analysis of Covariance (ANCOVA) with the total RBI score serving as the dependent measure, and a Multivariate Analysis of Covariance (MANCOVA) using individual RBI belief subscales as dependent measures. These results indicated that groups differed significantly on the total score and several of the individual belief subscales. These findings indicated that facial pain sufferers generally hold maladaptive beliefs that may be of clinical significance for cognitive/behavioral treatment approaches.

  3. [Regional nerve block in facial surgery].

    PubMed

    Gramkow, Christina; Sørensen, Jesper

    2008-02-11

    Regional nerve blocking techniques offer a suitable alternative to local infiltration anaesthesia for facial soft tissue-surgery. Moreover, they present several advantages over general anaesthesia, including smoother recovery, fewer side effects, residual analgesia into the postoperative period, earlier discharge from the recovery room and reduced costs. The branches of the trigeminal nerve and the sensory nerves originating from the upper cervical plexus can be targeted at several anatomical locations. We summarize current knowledge on facial nerve block techniques and recommend ten nerve blocks providing efficient anaesthesia for the entire head and upper-neck region.

  4. 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.

  5. Automatic decoding of facial movements reveals deceptive pain expressions

    PubMed Central

    Bartlett, Marian Stewart; Littlewort, Gwen C.; Frank, Mark G.; Lee, Kang

    2014-01-01

    Summary In highly social species such as humans, faces have evolved to convey rich information for social interaction, including expressions of emotions and pain [1–3]. Two motor pathways control facial movement [4–7]. A subcortical extrapyramidal motor system drives spontaneous facial expressions of felt emotions. A cortical pyramidal motor system controls voluntary facial expressions. The pyramidal system enables humans to simulate facial expressions of emotions not actually experienced. Their simulation is so successful that they can deceive most observers [8–11]. Machine vision may, however, be able to distinguish deceptive from genuine facial signals by identifying the subtle differences between pyramidally and extrapyramidally driven movements. Here we show that human observers could not discriminate real from faked expressions of pain better than chance, and after training, improved accuracy to a modest 55%. However a computer vision system that automatically measures facial movements and performs pattern recognition on those movements attained 85% accuracy. The machine system’s superiority is attributable to its ability to differentiate the dynamics of genuine from faked expressions. Thus by revealing the dynamics of facial action through machine vision systems, our approach has the potential to elucidate behavioral fingerprints of neural control systems involved in emotional signaling. PMID:24656830

  6. 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.

  7. A systematic review of visual processing and associated treatments in body dysmorphic disorder.

    PubMed

    Beilharz, F; Castle, D J; Grace, S; Rossell, S L

    2017-07-01

    Recent advances in body dysmorphic disorder (BDD) have explored abnormal visual processing, yet it is unclear how this relates to treatment. The aim of this study was to summarize our current understanding of visual processing in BDD and review associated treatments. The literature was collected through PsycInfo and PubMed. Visual processing articles were included if written in English after 1970, had a specific BDD group compared to healthy controls and were not case studies. Due to the lack of research regarding treatments associated with visual processing, case studies were included. A number of visual processing abnormalities are present in BDD, including face recognition, emotion identification, aesthetics, object recognition and gestalt processing. Differences to healthy controls include a dominance of detailed local processing over global processing and associated changes in brain activation in visual regions. Perceptual mirror retraining and some forms of self-exposure have demonstrated improved treatment outcomes, but have not been examined in isolation from broader treatments. Despite these abnormalities in perception, particularly concerning face and emotion recognition, few BDD treatments attempt to specifically remediate this. The development of a novel visual training programme which addresses these widespread abnormalities may provide an effective treatment modality. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  8. 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

  9. Legal and medical aspects of body dysmorphic disorder.

    PubMed

    Nachshoni, Tali; Kotler, Moshe

    2007-12-01

    Body Dysmorphic Disorder (BDD), a preoccupation with an imagined defect in physical appearance has a rich clinical history, but officially appeared with diagnostic criteria only in the DSM-III-R classification system. Prevalence of BDD in plastic and cosmetic dermatology ranges between 7-15% due to the obsession with imagined imperfections. The emotional "defect" causes dissatisfaction with nonpsychiatric medical procedures, and often recourse into legal action. We present a case study of BDD developing after cosmetic surgery and debate whether this is an actual possibility and the legal consequences of this possibility. We question whether surgery was a traumatic event and its relationship to the patient's premorbid "eggshell personality". The difficulty in determining causation of psychiatric disorders for the purpose of deciding issues of compensation is discussed. A practical algorithm is offered in order to avoid litigation and to maintain the legitimate medical ideal of "first do no harm".

  10. De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.

    PubMed

    Stokman, Marijn F; Oud, Machteld M; van Binsbergen, Ellen; Slaats, Gisela G; Nicolaou, Nayia; Renkema, Kirsten Y; Nijman, Isaac J; Roepman, Ronald; Giles, Rachel H; Arts, Heleen H; Knoers, Nine V A M; van Haelst, Mieke M

    2016-06-01

    We report an 11-year-old girl with mild intellectual disability, skeletal anomalies, congenital heart defect, myopia, and facial dysmorphisms including an extra incisor, cup-shaped ears, and a preauricular skin tag. Array comparative genomic hybridization analysis identified a de novo 4.5-Mb microdeletion on chromosome 14q24.2q24.3. The deleted region and phenotype partially overlap with previously reported patients. Here, we provide an overview of the literature on 14q24 microdeletions and further delineate the associated phenotype. We performed exome sequencing to examine other causes for the phenotype and queried genes present in the 14q24.2q24.3 microdeletion that are associated with recessive disease for variants in the non-deleted allele. The deleted region contains 65 protein-coding genes, including the ciliary gene IFT43. Although Sanger and exome sequencing did not identify variants in the second IFT43 allele or in other IFT complex A-protein-encoding genes, immunocytochemistry showed increased accumulation of IFT-B proteins at the ciliary tip in patient-derived fibroblasts compared to control cells, demonstrating defective retrograde ciliary transport. This could suggest a ciliary defect in the pathogenesis of this disorder. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  11. Large Intratemporal Facial Nerve Schwannoma without Facial Palsy: Surgical Strategy of Tumor Removal and Functional Reconstruction.

    PubMed

    Yetiser, Sertac

    2018-06-08

     Three patients with large intratemporal facial schwannomas underwent tumor removal and facial nerve reconstruction with hypoglossal anastomosis. The surgical strategy for the cases was tailored to the location of the mass and its extension along the facial nerve.  To provide data on the different clinical aspects of facial nerve schwannoma, the appropriate planning for management, and the predictive outcomes of facial function.  Three patients with facial schwannomas (two men and one woman, ages 45, 36, and 52 years, respectively) who presented to the clinic between 2009 and 2015 were reviewed. They all had hearing loss but normal facial function. All patients were operated on with radical tumor removal via mastoidectomy and subtotal petrosectomy and simultaneous cranial nerve (CN) 7- CN 12 anastomosis.  Multiple segments of the facial nerve were involved ranging in size from 3 to 7 cm. In the follow-up period of 9 to 24 months, there was no tumor recurrence. Facial function was scored House-Brackmann grades II and III, but two patients are still in the process of functional recovery.  Conservative treatment with sparing of the nerve is considered in patients with small tumors. Excision of a large facial schwannoma with immediate hypoglossal nerve grafting as a primary procedure can provide satisfactory facial nerve function. One of the disadvantages of performing anastomosis is that there is not enough neural tissue just before the bifurcation of the main stump to provide neural suturing without tension because middle fossa extension of the facial schwannoma frequently involves the main facial nerve at the stylomastoid foramen. Reanimation should be processed with extensive backward mobilization of the hypoglossal nerve. Georg Thieme Verlag KG Stuttgart · New York.

  12. Computer Recognition of Facial Profiles

    DTIC Science & Technology

    1974-08-01

    facial recognition 20. ABSTRACT (Continue on reverse side It necessary and Identify by block number) A system for the recognition of human faces from...21 2.6 Classification Algorithms ........... ... 32 III FACIAL RECOGNITION AND AUTOMATIC TRAINING . . . 37 3.1 Facial Profile Recognition...provide a fair test of the classification system. The work of Goldstein, Harmon, and Lesk [81 indicates, however, that for facial recognition , a ten class

  13. [Measuring impairment of facial affects recognition in schizophrenia. Preliminary study of the facial emotions recognition task (TREF)].

    PubMed

    Gaudelus, B; Virgile, J; Peyroux, E; Leleu, A; Baudouin, J-Y; Franck, N

    2015-06-01

    The impairment of social cognition, including facial affects recognition, is a well-established trait in schizophrenia, and specific cognitive remediation programs focusing on facial affects recognition have been developed by different teams worldwide. However, even though social cognitive impairments have been confirmed, previous studies have also shown heterogeneity of the results between different subjects. Therefore, assessment of personal abilities should be measured individually before proposing such programs. Most research teams apply tasks based on facial affects recognition by Ekman et al. or Gur et al. However, these tasks are not easily applicable in a clinical exercise. Here, we present the Facial Emotions Recognition Test (TREF), which is designed to identify facial affects recognition impairments in a clinical practice. The test is composed of 54 photos and evaluates abilities in the recognition of six universal emotions (joy, anger, sadness, fear, disgust and contempt). Each of these emotions is represented with colored photos of 4 different models (two men and two women) at nine intensity levels from 20 to 100%. Each photo is presented during 10 seconds; no time limit for responding is applied. The present study compared the scores of the TREF test in a sample of healthy controls (64 subjects) and people with stabilized schizophrenia (45 subjects) according to the DSM IV-TR criteria. We analysed global scores for all emotions, as well as sub scores for each emotion between these two groups, taking into account gender differences. Our results were coherent with previous findings. Applying TREF, we confirmed an impairment in facial affects recognition in schizophrenia by showing significant differences between the two groups in their global results (76.45% for healthy controls versus 61.28% for people with schizophrenia), as well as in sub scores for each emotion except for joy. Scores for women were significantly higher than for men in the population

  14. Impaired Overt Facial Mimicry in Response to Dynamic Facial Expressions in High-Functioning Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Yoshimura, Sayaka; Sato, Wataru; Uono, Shota; Toichi, Motomi

    2015-01-01

    Previous electromyographic studies have reported that individuals with autism spectrum disorders (ASD) exhibited atypical patterns of facial muscle activity in response to facial expression stimuli. However, whether such activity is expressed in visible facial mimicry remains unknown. To investigate this issue, we videotaped facial responses in…

  15. 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

  16. Neoclassical canons of facial beauty: Do we see the deviations?

    PubMed

    Pavlic, Andrej; Trinajstic Zrinski, Magda; Katic, Visnja; Spalj, Stjepan

    2017-05-01

    To explore the presence of neoclassical canons of facial beauty among young people in Croatia and to question possible psychosocial repercussions occurring in those who demonstrate deviations in relation to canons. The study was cross-sectional and the sample included 249 subjects (60% female) aged 12-39 (median 20). Their en face and profile photographs were taken in Natural Head Position. Photogrammetry included analysis of nine neoclassical canons of facial beauty originating from the Renaissance. Psychosocial issues were assessed using the Self-Esteem Scale, Big Five Inventory and three domains of Orthognathic Quality of Life Questionnaire. Significant deviations from neoclassical facial beauty canons were observed in 55-65% of adolescents and young adults. Gender and age showed no relation to deviations. The deviations from canons that influenced the quality of life were mainly those related to vertical facial proportions and demonstrated increased facial aesthetics concern and social impact, and higher self-reported treatment need (p < 0.05). Deviations from canons were not related to self-esteem but a decrease in openness, agreeableness and neuroticism was observed. Neoclassical canons were not valid for the majority of adolescents and young adults in Croatia. Only deviations from some canons appear to provoke mild psychosocial repercussions. Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

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

    PubMed

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

    2017-08-01

    Peripheral paralysis of the facial nerve is the most frequent of all cranial nerve disorders. Despite advances in facial surgery, the functional and aesthetic reconstruction of a paralyzed face remains a challenge. Graduated minimally invasive facial reanimation is based on a modular principle. According to the patients' needs, precondition, and expectations, the following modules can be performed: temporalis muscle transposition and facelift, nasal valve suspension, endoscopic brow lift, and eyelid reconstruction. Applying a concept of a graduated minimally invasive facial reanimation may help minimize surgical trauma and reduce morbidity. Twenty patients underwent a graduated minimally invasive facial reanimation. A retrospective chart review was performed with a follow-up examination between 1 and 8 months after surgery. The FACEgram software was used to calculate pre- and postoperative eyelid closure, the level of brows, nasal, and philtral symmetry as well as oral commissure position at rest and oral commissure excursion with smile. As a patient-oriented outcome parameter, the Glasgow Benefit Inventory questionnaire was applied. There was a statistically significant improvement in the postoperative score of eyelid closure, brow asymmetry, nasal asymmetry, philtral asymmetry as well as oral commissure symmetry at rest (p < 0.05). Smile evaluation revealed no significant change of oral commissure excursion. The mean Glasgow Benefit Inventory score indicated substantial improvement in patients' overall quality of life. If a primary facial nerve repair or microneurovascular tissue transfer cannot be applied, graduated minimally invasive facial reanimation is a promising option to restore facial function and symmetry at rest.

  18. Mime therapy improves facial symmetry in people with long-term facial nerve paresis: a randomised controlled trial.

    PubMed

    Beurskens, Carien H G; Heymans, Peter G

    2006-01-01

    What is the effect of mime therapy on facial symmetry and severity of paresis in people with facial nerve paresis? Randomised controlled trial. 50 people recruited from the Outpatient department of two metropolitan hospitals with facial nerve paresis for more than nine months. The experimental group received three months of mime therapy consisting of massage, relaxation, inhibition of synkinesis, and co-ordination and emotional expression exercises. The control group was placed on a waiting list. Assessments were made on admission to the trial and three months later by a measurer blinded to group allocation. Facial symmetry was measured using the Sunnybrook Facial Grading System. Severity of paresis was measured using the House-Brackmann Facial Grading System. After three months of mime therapy, the experimental group had improved their facial symmetry by 20.4 points (95% CI 10.4 to 30.4) on the Sunnybrook Facial Grading System compared with the control group. In addition, the experimental group had reduced the severity of their paresis by 0.6 grade (95% CI 0.1 to 1.1) on the House-Brackmann Facial Grading System compared with the control group. These effects were independent of age, sex, and duration of paresis. Mime therapy improves facial symmetry and reduces the severity of paresis in people with facial nerve paresis.

  19. Guide to Understanding Facial Palsy

    MedlinePlus

    ... to many different facial muscles. These muscles control facial expression. The coordinated activity of this nerve and these ... involves a weakness of the muscles responsible for facial expression and side-to-side eye movement. Moebius syndrome ...

  20. Managing the Pediatric Facial Fracture

    PubMed Central

    Cole, Patrick; Kaufman, Yoav; Hollier, Larry H.

    2009-01-01

    Facial fracture management is often complex and demanding, particularly within the pediatric population. Although facial fractures in this group are uncommon relative to their incidence in adult counterparts, a thorough understanding of issues relevant to pediatric facial fracture management is critical to optimal long-term success. Here, we discuss several issues germane to pediatric facial fractures and review significant factors in their evaluation, diagnosis, and management. PMID:22110800

  1. The not face: A grammaticalization of facial expressions of emotion.

    PubMed

    Benitez-Quiroz, C Fabian; Wilbur, Ronnie B; Martinez, Aleix M

    2016-05-01

    Facial expressions of emotion are thought to have evolved from the development of facial muscles used in sensory regulation and later adapted to express moral judgment. Negative moral judgment includes the expressions of anger, disgust and contempt. Here, we study the hypothesis that these facial expressions of negative moral judgment have further evolved into a facial expression of negation regularly used as a grammatical marker in human language. Specifically, we show that people from different cultures expressing negation use the same facial muscles as those employed to express negative moral judgment. We then show that this nonverbal signal is used as a co-articulator in speech and that, in American Sign Language, it has been grammaticalized as a non-manual marker. Furthermore, this facial expression of negation exhibits the theta oscillation (3-8 Hz) universally seen in syllable and mouthing production in speech and signing. These results provide evidence for the hypothesis that some components of human language have evolved from facial expressions of emotion, and suggest an evolutionary route for the emergence of grammatical markers. Copyright © 2016 Elsevier B.V. All rights reserved.

  2. [Facial paralysis in children].

    PubMed

    Muler, H; Paquelin, F; Cotin, G; Luboinski, B; Henin, J M

    1975-01-01

    Facial paralyses in children may be grouped under headings displaying a certain amount of individuality. Chronologically, first to be described are neonatal facial paralyses. These are common and are nearly always cured within a few days. Some of these cases are due to the mastoid being crushed at birth with or without the use of forceps. The intra-osseous pathway of the facial nerve is then affected throughout its length. However, a cure is often spontaneous. When this desirable development does not take place within three months, the nerve should be freed by decompressive surgery. The special anatomy of the facial nerve in the new-born baby makes this a delicate operation. Later, in all stages of acute otitis, acute mastoiditis or chronic otitis, facial paralysis can be seen. Treatment depends on the stage reached by the otitis: paracentesis, mastoidectomy, various scraping procedures, and, of course, antibiotherapy. The other causes of facial paralysis in children are very much less common: a frigore or viral, traumatic, occur ring in the course of acute poliomyelitis, shingles or tumours of the middle ear. To these must be added exceptional causes such as vitamin D intoxication, idiopathic hypercalcaemia and certain haemopathies.

  3. 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

  4. [Facial tics and spasms].

    PubMed

    Potgieser, Adriaan R E; van Dijk, J Marc C; Elting, Jan Willem J; de Koning-Tijssen, Marina A J

    2014-01-01

    Facial tics and spasms are socially incapacitating, but effective treatment is often available. The clinical picture is sufficient for distinguishing between the different diseases that cause this affliction.We describe three cases of patients with facial tics or spasms: one case of tics, which are familiar to many physicians; one case of blepharospasms; and one case of hemifacial spasms. We discuss the differential diagnosis and the treatment possibilities for facial tics and spasms. Early diagnosis and treatment is important, because of the associated social incapacitation. Botulin toxin should be considered as a treatment option for facial tics and a curative neurosurgical intervention should be considered for hemifacial spasms.

  5. Outcome of different facial nerve reconstruction techniques.

    PubMed

    Mohamed, Aboshanif; Omi, Eigo; Honda, Kohei; Suzuki, Shinsuke; Ishikawa, Kazuo

    There is no technique of facial nerve reconstruction that guarantees facial function recovery up to grade III. To evaluate the efficacy and safety of different facial nerve reconstruction techniques. Facial nerve reconstruction was performed in 22 patients (facial nerve interpositional graft in 11 patients and hypoglossal-facial nerve transfer in another 11 patients). All patients had facial function House-Brackmann (HB) grade VI, either caused by trauma or after resection of a tumor. All patients were submitted to a primary nerve reconstruction except 7 patients, where late reconstruction was performed two weeks to four months after the initial surgery. The follow-up period was at least two years. For facial nerve interpositional graft technique, we achieved facial function HB grade III in eight patients and grade IV in three patients. Synkinesis was found in eight patients, and facial contracture with synkinesis was found in two patients. In regards to hypoglossal-facial nerve transfer using different modifications, we achieved facial function HB grade III in nine patients and grade IV in two patients. Facial contracture, synkinesis and tongue atrophy were found in three patients, and synkinesis was found in five patients. However, those who had primary direct facial-hypoglossal end-to-side anastomosis showed the best result without any neurological deficit. Among various reanimation techniques, when indicated, direct end-to-side facial-hypoglossal anastomosis through epineural suturing is the most effective technique with excellent outcomes for facial reanimation and preservation of tongue movement, particularly when performed as a primary technique. Copyright © 2016 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  6. Laptop Computer - Based Facial Recognition System Assessment

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

    R. A. Cain; G. B. Singleton

    2001-03-01

    The objective of this project was to assess the performance of the leading commercial-off-the-shelf (COTS) facial recognition software package when used as a laptop application. We performed the assessment to determine the system's usefulness for enrolling facial images in a database from remote locations and conducting real-time searches against a database of previously enrolled images. The assessment involved creating a database of 40 images and conducting 2 series of tests to determine the product's ability to recognize and match subject faces under varying conditions. This report describes the test results and includes a description of the factors affecting the results.more » After an extensive market survey, we selected Visionics' FaceIt{reg_sign} software package for evaluation and a review of the Facial Recognition Vendor Test 2000 (FRVT 2000). This test was co-sponsored by the US Department of Defense (DOD) Counterdrug Technology Development Program Office, the National Institute of Justice, and the Defense Advanced Research Projects Agency (DARPA). Administered in May-June 2000, the FRVT 2000 assessed the capabilities of facial recognition systems that were currently available for purchase on the US market. Our selection of this Visionics product does not indicate that it is the ''best'' facial recognition software package for all uses. It was the most appropriate package based on the specific applications and requirements for this specific application. In this assessment, the system configuration was evaluated for effectiveness in identifying individuals by searching for facial images captured from video displays against those stored in a facial image database. An additional criterion was that the system be capable of operating discretely. For this application, an operational facial recognition system would consist of one central computer hosting the master image database with multiple standalone systems configured with duplicates of the master

  7. 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

  8. 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.

  9. Bell's palsy and partial hypoglossal to facial nerve transfer: Case presentation and literature review

    PubMed Central

    Socolovsky, Mariano; Páez, Miguel Domínguez; Masi, Gilda Di; Molina, Gonzalo; Fernández, Eduardo

    2012-01-01

    Background: Idiopathic facial nerve palsy (Bell's palsy) is a very common condition that affects active population. Despite its generally benign course, a minority of patients can remain with permanent and severe sequelae, including facial palsy or dyskinesia. Hypoglossal to facial nerve anastomosis is rarely used to reinnervate the mimic muscle in these patients. In this paper, we present a case where a direct partial hypoglossal to facial nerve transfer was used to reinnervate the upper and lower face. We also discuss the indications of this procedure. Case Description: A 53-year-old woman presenting a spontaneous complete (House and Brackmann grade 6) facial palsy on her left side showed no improvement after 13 months of conservative treatment. Electromyography (EMG) showed complete denervation of the mimic muscles. A direct partial hypoglossal to facial nerve anastomosis was performed, including dissection of the facial nerve at the fallopian canal. One year after the procedure, the patient showed House and Brackmann grade 3 function in her affected face. Conclusions: Partial hypoglossal–facial anastomosis with intratemporal drilling of the facial nerve is a viable technique in the rare cases in which severe Bell's palsy does not recover spontaneously. Only carefully selected patients can really benefit from this technique. PMID:22574255

  10. Recognizing Facial Expressions Automatically from Video

    NASA Astrophysics Data System (ADS)

    Shan, Caifeng; Braspenning, Ralph

    Facial expressions, resulting from movements of the facial muscles, are the face changes in response to a person's internal emotional states, intentions, or social communications. There is a considerable history associated with the study on facial expressions. Darwin [22] was the first to describe in details the specific facial expressions associated with emotions in animals and humans, who argued that all mammals show emotions reliably in their faces. Since that, facial expression analysis has been a area of great research interest for behavioral scientists [27]. Psychological studies [48, 3] suggest that facial expressions, as the main mode for nonverbal communication, play a vital role in human face-to-face communication. For illustration, we show some examples of facial expressions in Fig. 1.

  11. Trauma of facial skeleton in children: An indian perspective.

    PubMed

    Karim, Tanweer; Khan, Arshad Hafeez; Ahmed, Syed Saeed

    2010-06-01

    Both children and adults are subject to similar types of injuries but fractures of facial bones in children are relatively uncommon. The aim of this study was to evaluate the epidemiology of facial bone fractures among children of <12 years, their management and outcome in an Indian city. This retrospective study included children of <12 years of age with facial bone fractures admitted over a span of 3 years. In order to compare our results we reviewed the existing literature related to pediatric facial bone fractures. A total of 45 children were admitted for facial bone fractures. Forty (89%) of them were above 5 years of age and male to female ratio was 2:1. About 53.33% of these injuries were because of fall from height. Mandible fracture was the most common facial bone fracture among admitted patients. Symphysis and para-symphysis was the commonest site of mandibular fractures, seen in 49% cases. Majority of these fractures were managed by Inter-maxillary fixation and inter-osseous wiring. Mini-plates were used for widely displaced compound fractures. For un-displaced fractures observation alone was sufficient. Mandible is the commonest facial bone fracture in children, more often caused by accidental fall from height. The high osteogenic potential of pediatric mandible allows non-surgical management to be successful in an increased proportion of younger patients.

  12. Processing of Facial Emotion in Bipolar Depression and Euthymia.

    PubMed

    Robinson, Lucy J; Gray, John M; Burt, Mike; Ferrier, I Nicol; Gallagher, Peter

    2015-10-01

    Previous studies of facial emotion processing in bipolar disorder (BD) have reported conflicting findings. In independently conducted studies, we investigate facial emotion labeling in euthymic and depressed BD patients using tasks with static and dynamically morphed images of different emotions displayed at different intensities. Study 1 included 38 euthymic BD patients and 28 controls. Participants completed two tasks: labeling of static images of basic facial emotions (anger, disgust, fear, happy, sad) shown at different expression intensities; the Eyes Test (Baron-Cohen, Wheelwright, Hill, Raste, & Plumb, 2001), which involves recognition of complex emotions using only the eye region of the face. Study 2 included 53 depressed BD patients and 47 controls. Participants completed two tasks: labeling of "dynamic" facial expressions of the same five basic emotions; the Emotional Hexagon test (Young, Perret, Calder, Sprengelmeyer, & Ekman, 2002). There were no significant group differences on any measures of emotion perception/labeling, compared to controls. A significant group by intensity interaction was observed in both emotion labeling tasks (euthymia and depression), although this effect did not survive the addition of measures of executive function/psychomotor speed as covariates. Only 2.6-15.8% of euthymic patients and 7.8-13.7% of depressed patients scored below the 10th percentile of the controls for total emotion recognition accuracy. There was no evidence of specific deficits in facial emotion labeling in euthymic or depressed BD patients. Methodological variations-including mood state, sample size, and the cognitive demands of the tasks-may contribute significantly to the variability in findings between studies.

  13. Can understanding the neurobiology of body dysmorphic disorder (BDD) inform treatment?

    PubMed

    Rossell, Susan L; Harrison, Ben J; Castle, David

    2015-08-01

    We aim to provide a clinically focused review of the neurobiological literature in body dysmorphic disorder (BDD), with a focus on structural and functional neuroimaging. There has been a recent influx of studies examining the underlying neurobiology of BDD using structural and functional neuroimaging methods. Despite obvious symptom similarities with obsessive-compulsive disorder (OCD), no study to date has directly compared the two groups using neuroimaging techniques. Studies have established that there are limbic and visual cortex abnormalities in BDD, in contrast to fronto-striatal differences in OCD. Such data suggests affect or visual training maybe useful in BDD. © The Royal Australian and New Zealand College of Psychiatrists 2015.

  14. Facial transplantation for massive traumatic injuries.

    PubMed

    Alam, Daniel S; Chi, John J

    2013-10-01

    This article describes the challenges of facial reconstruction and the role of facial transplantation in certain facial defects and injuries. This information is of value to surgeons assessing facial injuries with massive soft tissue loss or injury. Copyright © 2013 Elsevier Inc. All rights reserved.

  15. Novel magnet-retained prosthetic system for facial reconstruction.

    PubMed

    Ahmed, Mostafa M; Piper, James M; Hansen, Nancy A; Sutton, Alan J; Schmalbach, Cecelia E

    2014-01-01

    Traumatic facial defects negatively impact speech, mastication, deglutition, dental hygiene, and psychosocial well-being. Reconstruction must address restoration of function and aesthetics to provide quality of life. This report describes soft-tissue reconstruction using a novel magnet-retained facial prosthesis without osseointegrated abutments, performed in a patient after traumatic loss of the entire left lower part of the face, including lips, commissure, and mentum. This reconstructive technique successfully addressed the cosmetic defect while also restoring function with respect to speech and oral nutrition. For this reason, magnet-retained facial prosthesis should be added to free tissue transfer and regional flaps as a reasonable option in the reconstructive algorithm for complex soft-tissue defects of the lower face.

  16. Bilateral Facial Paralysis: A 13-Year Experience.

    PubMed

    Gaudin, Robert A; Jowett, Nathan; Banks, Caroline A; Knox, Christopher J; Hadlock, Tessa A

    2016-10-01

    Bilateral facial palsy is a rare clinical entity caused by myriad disparate conditions requiring different treatment paradigms. Lyme disease, Guillain-Barré syndrome, and leukemia are several examples. In this article, the authors describe the cause, the initial diagnostic approach, and the management of long-term sequelae of bilateral paralysis that has evolved in the authors' center over the past 13 years. A chart review was performed to identify all patients diagnosed with bilateral paralysis at the authors' center between January of 2002 and January of 2015. Demographics, signs and symptoms, diagnosis, initial medical treatment, interventions for facial reanimation, and outcomes were reviewed. Of the 2471 patients seen at the authors' center, 68 patients (3 percent) with bilateral facial paralysis were identified. Ten patients (15 percent) presented with bilateral facial paralysis caused by Lyme disease, nine (13 percent) with Möbius syndrome, nine (13 percent) with neurofibromatosis type 2, five (7 percent) with bilateral facial palsy caused by brain tumor, four (6 percent) with Melkersson-Rosenthal syndrome, three (4 percent) with bilateral temporal bone fractures, two (3 percent) with Guillain-Barré syndrome, one (2 percent) with central nervous system lymphoma, one (2 percent) with human immunodeficiency virus infection, and 24 (35 percent) with presumed Bell palsy. Treatment included pharmacologic therapy, physical therapy, chemodenervation, and surgical interventions. Bilateral facial palsy is a rare medical condition, and treatment often requires a multidisciplinary approach. The authors outline diagnostic and therapeutic algorithms of a tertiary care center to provide clinicians with a systematic approach to managing these complicated patients.

  17. Quality of life assessment in facial palsy: validation of the Dutch Facial Clinimetric Evaluation Scale.

    PubMed

    Kleiss, Ingrid J; Beurskens, Carien H G; Stalmeier, Peep F M; Ingels, Koen J A O; Marres, Henri A M

    2015-08-01

    This study aimed at validating an existing health-related quality of life questionnaire for patients with facial palsy for implementation in the Dutch language and culture. The Facial Clinimetric Evaluation Scale was translated into the Dutch language using a forward-backward translation method. A pilot test with the translated questionnaire was performed in 10 patients with facial palsy and 10 normal subjects. Finally, cross-cultural adaption was accomplished at our outpatient clinic for facial palsy. Analyses for internal consistency, test-retest reliability, construct validity and responsiveness were performed. Ninety-three patients completed the Dutch Facial Clinimetric Evaluation Scale, the Dutch Facial Disability Index, and the Dutch Short Form (36) Health Survey. Cronbach's α, representing internal consistency, was 0.800. Test-retest reliability was shown by an intraclass correlation coefficient of 0.737. Correlations with the House-Brackmann score, Sunnybrook score, Facial Disability Index physical function, and social/well-being function were -0.292, 0.570, 0.713, and 0.575, respectively. The SF-36 domains correlate best with the FaCE social function domain, with the strongest correlation between the both social function domains (r = 0.576). The FaCE score did statistically significantly increase in 35 patients receiving botulinum toxin type A (P = 0.042, Student t test). The domains 'facial comfort' and 'social function' improved statistically significantly as well (P = 0.022 and P = 0.046, respectively, Student t-test). The Dutch Facial Clinimetric Evaluation Scale shows good psychometric values and can be implemented in the management of Dutch-speaking patients with facial palsy in the Netherlands. Translation of the instrument into other languages may lead to widespread use, making evaluation and comparison possible among different providers.

  18. 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.

  19. Gender, age, and psychosocial context of the perception of facial esthetics.

    PubMed

    Tole, Nikoleta; Lajnert, Vlatka; Kovacevic Pavicic, Daniela; Spalj, Stjepan

    2014-01-01

    To explore the effects of gender, age, and psychosocial context on the perception of facial esthetics. The study included 1,444 Caucasian subjects aged 16 to 85 years. Two sets of color photographs illustrating 13 male and 13 female Caucasian facial type alterations, representing different skeletal and dentoalveolar components of sagittal maxillary-mandibular relationships, were used to estimate the facial profile attractiveness. The examinees graded the profiles based on a 0 to 10 numerical rating scale. The examinees graded the profiles of their own sex only from a social perspective, whereas opposite sex profiles were graded both from the social and emotional perspective separately. The perception of facial esthetics was found to be related to the gender, age, and psychosocial context of evaluation (p < 0.05). The most attractive profiles to men are the orthognathic female profile from the social perspective and the moderate bialveolar protrusion from the emotional perspective. The most attractive profile to women is the orthognathic male profile, when graded from the social aspect, and the mild bialveolar retrusion when graded from the emotional aspect. The age increase of the assessor results in a higher attractiveness grade. When planning treatment that modifies the facial profile, the clinician should bear in mind that the perception of facial profile esthetics is a complex phenomenon influenced by biopsychosocial factors. This study allows a better understanding of the concept of perception of facial esthetics that includes gender, age, and psychosocial context. © 2013 Wiley Periodicals, Inc.

  20. Facial Nerve Paralysis due to a Pleomorphic Adenoma with the Imaging Characteristics of a Facial Nerve Schwannoma

    PubMed Central

    Nader, Marc-Elie; Bell, Diana; Sturgis, Erich M.; Ginsberg, Lawrence E.; Gidley, Paul W.

    2014-01-01

    Background Facial nerve paralysis in a patient with a salivary gland mass usually denotes malignancy. However, facial paralysis can also be caused by benign salivary gland tumors. Methods We present a case of facial nerve paralysis due to a benign salivary gland tumor that had the imaging characteristics of an intraparotid facial nerve schwannoma. Results The patient presented to our clinic 4 years after the onset of facial nerve paralysis initially diagnosed as Bell palsy. Computed tomography demonstrated filling and erosion of the stylomastoid foramen with a mass on the facial nerve. Postoperative histopathology showed the presence of a pleomorphic adenoma. Facial paralysis was thought to be caused by extrinsic nerve compression. Conclusions This case illustrates the difficulty of accurate preoperative diagnosis of a parotid gland mass and reinforces the concept that facial nerve paralysis in the context of salivary gland tumors may not always indicate malignancy. PMID:25083397

  1. Facial Nerve Paralysis due to a Pleomorphic Adenoma with the Imaging Characteristics of a Facial Nerve Schwannoma.

    PubMed

    Nader, Marc-Elie; Bell, Diana; Sturgis, Erich M; Ginsberg, Lawrence E; Gidley, Paul W

    2014-08-01

    Background Facial nerve paralysis in a patient with a salivary gland mass usually denotes malignancy. However, facial paralysis can also be caused by benign salivary gland tumors. Methods We present a case of facial nerve paralysis due to a benign salivary gland tumor that had the imaging characteristics of an intraparotid facial nerve schwannoma. Results The patient presented to our clinic 4 years after the onset of facial nerve paralysis initially diagnosed as Bell palsy. Computed tomography demonstrated filling and erosion of the stylomastoid foramen with a mass on the facial nerve. Postoperative histopathology showed the presence of a pleomorphic adenoma. Facial paralysis was thought to be caused by extrinsic nerve compression. Conclusions This case illustrates the difficulty of accurate preoperative diagnosis of a parotid gland mass and reinforces the concept that facial nerve paralysis in the context of salivary gland tumors may not always indicate malignancy.

  2. Body Dysmorphic Disorder and Other Clinically Significant Body Image Concerns in Adolescent Psychiatric Inpatients: Prevalence and Clinical Characteristics

    ERIC Educational Resources Information Center

    Dyl, Jennifer; Kittler, Jennifer; Phillips, Katharine A.; Hunt, Jeffrey I.

    2006-01-01

    Background: This study assessed prevalence and clinical correlates of body dysmorphic disorder (BDD), eating disorders (ED), and other clinically significant body image concerns in 208 consecutively admitted adolescent inpatients. It was hypothesized that adolescents with BDD would have higher levels of depression, anxiety, and suicidality.…

  3. Augmentation of linear facial anthropometrics through modern morphometrics: a facial convexity example.

    PubMed

    Wei, R; Claes, P; Walters, M; Wholley, C; Clement, J G

    2011-06-01

    The facial region has traditionally been quantified using linear anthropometrics. These are well established in dentistry, but require expertise to be used effectively. The aim of this study was to augment the utility of linear anthropometrics by applying them in conjunction with modern 3-D morphometrics. Facial images of 75 males and 94 females aged 18-25 years with self-reported Caucasian ancestry were used. An anthropometric mask was applied to establish corresponding quasi-landmarks on the images in the dataset. A statistical face-space, encoding shape covariation, was established. The facial median plane was extracted facilitating both manual and automated indication of commonly used midline landmarks. From both indications, facial convexity angles were calculated and compared. The angles were related to the face-space using a regression based pathway enabling the visualization of facial form associated with convexity variation. Good agreement between the manual and automated angles was found (Pearson correlation: 0.9478-0.9474, Dahlberg root mean squared error: 1.15°-1.24°). The population mean angle was 166.59°-166.29° (SD 5.09°-5.2°) for males-females. The angle-pathway provided valuable feedback. Linear facial anthropometrics can be extended when used in combination with a face-space derived from 3-D scans and the exploration of property pathways inferred in a statistically verifiable way. © 2011 Australian Dental Association.

  4. Management of facial burns with a collagen/glycosaminoglycan skin substitute-prospective experience with 12 consecutive patients with large, deep facial burns.

    PubMed

    Klein, Matthew B; Engrav, Loren H; Holmes, James H; Friedrich, Jeffrey B; Costa, Beth A; Honari, Shari; Gibran, Nicole S

    2005-05-01

    Management of deep facial burns remains one of the greatest challenges in burn care. We have developed a protocol over the past 20 years for management of facial burns that includes excision and coverage with thick autograft. However, the results were not perfect. Deformities of the eyelids, nose and mouth as well as the prominence of skin graft junctures demonstrated the need to explore novel approaches. Integra has been used with success in the management of burns of the trunk and extremities. The purpose of this study was to prospectively evaluate the aesthetic outcome of the use of Integra for deep facial burns. Twelve consecutive patients underwent excision of large, deep facial burns and placement of Integra. Integra provides excellent color and minimally visible skin graft junctures. The texture is good but not as supple as thick autograft. Integra is not well suited for use in the coverage of eyelid burns due to the need to wait 2 weeks for adequate vascularization. In summary, thick autograft remains the gold standard for deep facial burns. However, for patients with extensive burns and limited donor sites, Integra provides an acceptable alternative.

  5. Anorexia nervosa and body dysmorphic disorder: A comparison of body image concerns and explicit and implicit attractiveness beliefs.

    PubMed

    Hartmann, A S; Thomas, J J; Greenberg, J L; Elliott, C M; Matheny, N L; Wilhelm, S

    2015-06-01

    Although body image is central to the etiological models of anorexia nervosa and body dysmorphic disorder, studies comparing body image and beliefs about attractiveness between the disorders are rare. Sixty-nine individuals (anorexia nervosa: n=24, body dysmorphic disorder: n=23, healthy controls: n=22) completed self-report measures (body image and general psychopathology), diagnostic interviews, and Go/No-Go Association tasks measuring implicit associations. Compared to controls, both clinical groups exhibited greater negative body image, a more negative attitude toward their physical selves, and more dysfunctional coping strategies (ps<.001). Also, both clinical groups shared greater explicit beliefs about the importance of attractiveness (ps<.001). In addition to supporting previous research with regard to comparable body image disturbance, this study also showed that beliefs regarding the importance of appearance (e.g., "one must be attractive to be successful") might be a fruitful target for therapy across both disorders. Copyright © 2015 Elsevier Ltd. All rights reserved.

  6. Patients with mild to moderate body dysmorphic disorder may benefit from rhinoplasty.

    PubMed

    Felix, Gabriel Almeida Arruda; de Brito, Maria José Azevedo; Nahas, Fabio Xerfan; Tavares, Hermano; Cordás, Táki Athanássios; Dini, Gal Moreira; Ferreira, Lydia Masako

    2014-05-01

    Body dysmorphic disorder (BDD) is one of the most common psychiatric conditions found in patients seeking cosmetic surgery. BDD is also a challenge for plastic surgeons because it is still an underdiagnosed mental disorder. The aims of this study were to prospectively investigate whether patients with mild to moderate BDD are suitable for rhinoplasty, and to assess BDD severity and patient satisfaction with the surgical outcome 1 year after the intervention. All women (n = 116) seeking rhinoplasty at a university hospital between September 2009 and August 2010 were recruited for the study and assessed for BDD. The final sample consisted of 31 patients aged 32 (standard deviation (SD), 10) years with mild to moderate BDD who underwent rhinoplasty. The participants were assessed preoperatively (baseline) and 1 year postoperatively with the Body Dysmorphic Disorder Examination (BDDE). Most patients (22/31, 71%) were of African descent. Socio-demographic variables and the extent of the nasal deformities had no effect on the severity of BDD symptoms and patient satisfaction with surgery outcome. At the 1-year postoperative follow-up, there was a significant decrease from baseline in BDDE scores and time spent by patients worrying about their appearance; 25 (25/31, 81%) patients experienced complete remission from BDD and 28 (28/31, 90%) were satisfied with the results of surgery. Rhinoplasty may be indicated in the treatment of female patients with mild to moderate BDD. Copyright © 2014 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  7. 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.

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

    PubMed

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

    2017-02-01

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

  9. Two Ways to Facial Expression Recognition? Motor and Visual Information Have Different Effects on Facial Expression Recognition.

    PubMed

    de la Rosa, Stephan; Fademrecht, Laura; Bülthoff, Heinrich H; Giese, Martin A; Curio, Cristóbal

    2018-06-01

    Motor-based theories of facial expression recognition propose that the visual perception of facial expression is aided by sensorimotor processes that are also used for the production of the same expression. Accordingly, sensorimotor and visual processes should provide congruent emotional information about a facial expression. Here, we report evidence that challenges this view. Specifically, the repeated execution of facial expressions has the opposite effect on the recognition of a subsequent facial expression than the repeated viewing of facial expressions. Moreover, the findings of the motor condition, but not of the visual condition, were correlated with a nonsensory condition in which participants imagined an emotional situation. These results can be well accounted for by the idea that facial expression recognition is not always mediated by motor processes but can also be recognized on visual information alone.

  10. Facial Soft Tissue Trauma

    PubMed Central

    Kretlow, James D.; McKnight, Aisha J.; Izaddoost, Shayan A.

    2010-01-01

    Traumatic facial soft tissue injuries are commonly encountered in the emergency department by plastic surgeons and other providers. Although rarely life-threatening, the treatment of these injuries can be complex and may have significant impact on the patient's facial function and aesthetics. This article provides a review of the relevant literature related to this topic and describes the authors' approach to the evaluation and management of the patient with facial soft tissue injuries. PMID:22550459

  11. 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.

  12. The Body Dysmorphic Disorder Symptom Scale: Development and preliminary validation of a self-report scale of symptom specific dysfunction.

    PubMed

    Wilhelm, Sabine; Greenberg, Jennifer L; Rosenfield, Elizabeth; Kasarskis, Irina; Blashill, Aaron J

    2016-06-01

    The Body Dysmorphic Disorder Symptom Scale (BDD-SS) is a new self-report measure used to examine the severity of a wide variety of symptoms associated with body dysmorphic disorder (BDD). The BDD-SS was designed to differentiate, for each group of symptoms, the number of symptoms endorsed and their severity. This report evaluates and compares the psychometric characteristics of the BDD-SS in relation to other measures of BDD, body image, and depression in 99 adult participants diagnosed with BDD. Total scores of the BDD-SS showed good reliability and convergent validity and moderate discriminant validity. Analyses of the individual BDD-SS symptom groups confirmed the reliability of the checking, grooming, weight/shape, and cognition groups. The current findings indicate that the BDD-SS can be quickly administered and used to examine the severity of heterogeneous BDD symptoms for research and clinical purposes. Copyright © 2016. Published by Elsevier Ltd.

  13. Quantitative Magnetic Resonance Imaging Volumetry of Facial Muscles in Healthy Patients with Facial Palsy

    PubMed Central

    Volk, Gerd F.; Karamyan, Inna; Klingner, Carsten M.; Reichenbach, Jürgen R.

    2014-01-01

    Background: Magnetic resonance imaging (MRI) has not yet been established systematically to detect structural muscular changes after facial nerve lesion. The purpose of this pilot study was to investigate quantitative assessment of MRI muscle volume data for facial muscles. Methods: Ten healthy subjects and 5 patients with facial palsy were recruited. Using manual or semiautomatic segmentation of 3T MRI, volume measurements were performed for the frontal, procerus, risorius, corrugator supercilii, orbicularis oculi, nasalis, zygomaticus major, zygomaticus minor, levator labii superioris, orbicularis oris, depressor anguli oris, depressor labii inferioris, and mentalis, as well as for the masseter and temporalis as masticatory muscles for control. Results: All muscles except the frontal (identification in 4/10 volunteers), procerus (4/10), risorius (6/10), and zygomaticus minor (8/10) were identified in all volunteers. Sex or age effects were not seen (all P > 0.05). There was no facial asymmetry with exception of the zygomaticus major (larger on the left side; P = 0.012). The exploratory examination of 5 patients revealed considerably smaller muscle volumes on the palsy side 2 months after facial injury. One patient with chronic palsy showed substantial muscle volume decrease, which also occurred in another patient with incomplete chronic palsy restricted to the involved facial area. Facial nerve reconstruction led to mixed results of decreased but also increased muscle volumes on the palsy side compared with the healthy side. Conclusions: First systematic quantitative MRI volume measures of 5 different clinical presentations of facial paralysis are provided. PMID:25289366

  14. Comparison of Facial Nerve Paralysis in Adults and Children

    PubMed Central

    Cha, Chang Il; Hong, Chang Kee; Park, Moon Suh

    2008-01-01

    Purpose Facial nerve injury can occur in the regions ranging from the cerebral cortex to the motor end plate in the face, and from many causes including trauma, viral infection, and idiopathic factors. Facial nerve paralysis in children, however, may differ from that in adults. We, therefore, evaluated its etiology and recovery rate in children and adults. Materials and Methods We retrospectively evaluated the records of 975 patients, ranging in age from 0 to 88 years, who displayed facial palsy at Kyung Hee Medical Center between January 1986 and July 2005. Results The most frequent causes of facial palsy in adults were Bell's palsy (54.9%), infection (26.8%), trauma (5.9%), iatrogenic (2.0%), and tumors (1.8%), whereas the most frequent causes of facial palsy in children were Bell's palsy (66.2%), infection (14.6%), trauma (13.4%), birth trauma (3.2%), and leukemia (1.3%). Recovery rates in adults were 91.4% for Bell's palsy, 89.0% for infection, and 64.3% for trauma, whereas recovery rates in children were 93.1% for Bell's palsy, 90.9% for infection, and 42.9% for trauma. Conclusion These results show that causes of facial palsy are similar in adults and children, and recovery rates in adults and children are not significantly different. PMID:18972592

  15. Prevalence and heritability of body dysmorphic symptoms in adolescents and young adults: a population-based nationwide twin study.

    PubMed

    Enander, Jesper; Ivanov, Volen Z; Mataix-Cols, David; Kuja-Halkola, Ralf; Ljótsson, Brjánn; Lundström, Sebastian; Pérez-Vigil, Ana; Monzani, Benedetta; Lichtenstein, Paul; Rück, Christian

    2018-02-28

    Body dysmorphic disorder (BDD) usually begins during adolescence but little is known about the prevalence, etiology, and patterns of comorbidity in this age group. We investigated the prevalence of BDD symptoms in adolescents and young adults. We also report on the relative importance of genetic and environmental influences on BDD symptoms, and the risk for co-existing psychopathology. Prevalence of BDD symptoms was determined by a validated cut-off on the Dysmorphic Concerns Questionnaire (DCQ) in three population-based twin cohorts at ages 15 (n = 6968), 18 (n = 3738), and 20-28 (n = 4671). Heritability analysis was performed using univariate model-fitting for the DCQ. The risk for co-existing psychopathology was expressed as odds ratios (OR). The prevalence of clinically significant BDD symptoms was estimated to be between 1 and 2% in the different cohorts, with a significantly higher prevalence in females (1.3-3.3%) than in males (0.2-0.6%). The heritability of body dysmorphic concerns was estimated to be 49% (95% CI 38-54%) at age 15, 39% (95% CI 30-46) at age 18, and 37% (95% CI 29-42) at ages 20-28, with the remaining variance being due to non-shared environment. ORs for co-existing neuropsychiatric and alcohol-related problems ranged from 2.3 to 13.2. Clinically significant BDD symptoms are relatively common in adolescence and young adulthood, particularly in females. The low occurrence of BDD symptoms in adolescent boys may indicate sex differences in age of onset and/or etiological mechanisms. BDD symptoms are moderately heritable in young people and associated with an increased risk for co-existing neuropsychiatric and alcohol-related problems.

  16. [Prosopagnosia and facial expression recognition].

    PubMed

    Koyama, Shinichi

    2014-04-01

    This paper reviews clinical neuropsychological studies that have indicated that the recognition of a person's identity and the recognition of facial expressions are processed by different cortical and subcortical areas of the brain. The fusiform gyrus, especially the right fusiform gyrus, plays an important role in the recognition of identity. The superior temporal sulcus, amygdala, and medial frontal cortex play important roles in facial-expression recognition. Both facial recognition and facial-expression recognition are highly intellectual processes that involve several regions of the brain.

  17. Management of Chronic Facial Pain

    PubMed Central

    Williams, Christopher G.; Dellon, A. Lee; Rosson, Gedge D.

    2009-01-01

    Pain persisting for at least 6 months is defined as chronic. Chronic facial pain conditions often take on lives of their own deleteriously changing the lives of the sufferer. Although much is known about facial pain, it is clear that those physicians who treat these conditions should continue elucidating the mechanisms and defining successful treatment strategies for these life-changing conditions. This article will review many of the classic causes of chronic facial pain due to the trigeminal nerve and its branches that are amenable to surgical therapies. Testing of facial sensibility is described and its utility introduced. We will also introduce some of the current hypotheses of atypical facial pain and headaches secondary to chronic nerve compressions and will suggest possible treatment strategies. PMID:22110799

  18. Facial mimicry in its social setting

    PubMed Central

    Seibt, Beate; Mühlberger, Andreas; Likowski, Katja U.; Weyers, Peter

    2015-01-01

    In interpersonal encounters, individuals often exhibit changes in their own facial expressions in response to emotional expressions of another person. Such changes are often called facial mimicry. While this tendency first appeared to be an automatic tendency of the perceiver to show the same emotional expression as the sender, evidence is now accumulating that situation, person, and relationship jointly determine whether and for which emotions such congruent facial behavior is shown. We review the evidence regarding the moderating influence of such factors on facial mimicry with a focus on understanding the meaning of facial responses to emotional expressions in a particular constellation. From this, we derive recommendations for a research agenda with a stronger focus on the most common forms of encounters, actual interactions with known others, and on assessing potential mediators of facial mimicry. We conclude that facial mimicry is modulated by many factors: attention deployment and sensitivity, detection of valence, emotional feelings, and social motivations. We posit that these are the more proximal causes of changes in facial mimicry due to changes in its social setting. PMID:26321970

  19. Facial neuroma masquerading as acoustic neuroma.

    PubMed

    Sayegh, Eli T; Kaur, Gurvinder; Ivan, Michael E; Bloch, Orin; Cheung, Steven W; Parsa, Andrew T

    2014-10-01

    Facial nerve neuromas are rare benign tumors that may be initially misdiagnosed as acoustic neuromas when situated near the auditory apparatus. We describe a patient with a large cystic tumor with associated trigeminal, facial, audiovestibular, and brainstem dysfunction, which was suspicious for acoustic neuroma on preoperative neuroimaging. Intraoperative investigation revealed a facial nerve neuroma located in the cerebellopontine angle and internal acoustic canal. Gross total resection of the tumor via retrosigmoid craniotomy was curative. Transection of the facial nerve necessitated facial reanimation 4 months later via hypoglossal-facial cross-anastomosis. Clinicians should recognize the natural history, diagnostic approach, and management of this unusual and mimetic lesion. Copyright © 2014 Elsevier Ltd. All rights reserved.

  20. 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

  1. Satisfaction with facial profile aesthetics: are norms overrated?

    PubMed

    Manevska, I; Pavlic, A; Katic, V; Trinajstic Zrinski, M; Drevensek, M; Spalj, S

    2018-01-01

    This study aimed to explore to what extent adults perceive deviations from the norm of a balanced profile with normal occlusion as reducing satisfaction with facial appearance and having a psychosocial impact. This cross-sectional study included 225 Caucasian subjects (64% women) aged 18-42 years. Their facial profiles were analyzed photogrammetrically and they were classified into three categories: within, below, or above the standard range for the Croatian population with a normal occlusion. Psychosocial issues were assessed by self-reported satisfaction with facial appearance and domains from the Orthognathic Quality of Life Questionnaire: social aspects of dentofacial aesthetics (SA), facial aesthetics concern (FA), and awareness of dentofacial aesthetics (AW). Men with a concave profile were less satisfied with their faces than those with a flat or convex profile (P<0.05). A reduced upper lip height in men resulted in a lower level of satisfaction and increased FA score, when compared to men with a normal or increased upper lip height (P<0.05). In women, a reduced middle third of the face increased AW (P=0.045). Deviations from a well-balanced facial profile, as well as the morphology of the nose and lip, do not increase psychosocial issues to a great extent. The range of acceptable facial characteristics is evidently much broader than the norms. Copyright © 2017 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  2. Facial porokeratosis: A series of six patients.

    PubMed

    Gutierrez, Ericson L; Galarza, Carlos; Ramos, Willy; Tello, Mercedes; De Paz, Patricia Chávez; Bobbio, Lucia; Barquinero, Alicia; Ronceros, Gerardo; Ortega-Loayza, Alex G

    2010-08-01

    Porokeratosis is a disorder of epidermal keratinization characterized by annular plaques with an atrophic centre and hyperkeratotic edges, and includes a heterogeneous group of disorders that are mostly inherited in an autosomal dominant fashion. Facial porokeratosis is rare and is not well documented. We present six cases of facial porokeratosis seen over a period of 15 years in a hospital in Lima, Peru. In most of the cases, porokeratosis was found in younger women without any significant past medical history. Oral isotretinoin showed moderate improvement in two of our patients.

  3. Facial Transplantation Surgery Introduction

    PubMed Central

    2015-01-01

    Severely disfiguring facial injuries can have a devastating impact on the patient's quality of life. During the past decade, vascularized facial allotransplantation has progressed from an experimental possibility to a clinical reality in the fields of disease, trauma, and congenital malformations. This technique may now be considered a viable option for repairing complex craniofacial defects for which the results of autologous reconstruction remain suboptimal. Vascularized facial allotransplantation permits optimal anatomical reconstruction and provides desired functional, esthetic, and psychosocial benefits that are far superior to those achieved with conventional methods. Along with dramatic improvements in their functional statuses, patients regain the ability to make facial expressions such as smiling and to perform various functions such as smelling, eating, drinking, and speaking. The ideas in the 1997 movie "Face/Off" have now been realized in the clinical field. The objective of this article is to introduce this new surgical field, provide a basis for examining the status of the field of face transplantation, and stimulate and enhance facial transplantation studies in Korea. PMID:26028914

  4. Facial transplantation surgery introduction.

    PubMed

    Eun, Seok-Chan

    2015-06-01

    Severely disfiguring facial injuries can have a devastating impact on the patient's quality of life. During the past decade, vascularized facial allotransplantation has progressed from an experimental possibility to a clinical reality in the fields of disease, trauma, and congenital malformations. This technique may now be considered a viable option for repairing complex craniofacial defects for which the results of autologous reconstruction remain suboptimal. Vascularized facial allotransplantation permits optimal anatomical reconstruction and provides desired functional, esthetic, and psychosocial benefits that are far superior to those achieved with conventional methods. Along with dramatic improvements in their functional statuses, patients regain the ability to make facial expressions such as smiling and to perform various functions such as smelling, eating, drinking, and speaking. The ideas in the 1997 movie "Face/Off" have now been realized in the clinical field. The objective of this article is to introduce this new surgical field, provide a basis for examining the status of the field of face transplantation, and stimulate and enhance facial transplantation studies in Korea.

  5. Body Dysmorphic Disorder in aesthetic rhinoplasty: Validating a new screening tool.

    PubMed

    Lekakis, Garyfalia; Picavet, Valerie A; Gabriëls, Loes; Grietens, Jente; Hellings, Peter W

    2016-08-01

    To validate a new screening tool for body dysmorphic disorder (BDD) in patients seeking aesthetic rhinoplasty. We performed a prospective instrument validation study in an academic rhinology clinic. The Body Dysmorphic Disorder Questionnaire-Aesthetic Surgery (BDDQ-AS) is a seven-item short questionnaire validated in 116 patients undergoing aesthetic rhinoplasty. Screening was positive if the patient acknowledged on the BDDQ-AS that he/she was concerned about their appearance (question 1 = yes) AND preoccupied with these concerns (question 2 = yes) AND that these concerns caused at least moderate distress or impairment in different domains of daily life (question 3 or 4 or 5 or 6 ≥ 3 or question 7 = yes). Construct validity was assessed by comparing the BDDQ-AS to the Sheehan Disability Scale and the Derriford Appearance Scale-59. To determine concurrent validity, the BDDQ-AS was compared to the Yale-Brown Obsessive Compulsive Scale Modified for BDD. Finally, the predictive value of the BDDQ-AS on satisfaction 12 months after rhinoplasty was evaluated using a visual analogue scale and the Rhinoplasty Outcome Evaluation. Reliability of the BDDQ-AS was adequate, with Cronbach alpha = .83 for rhinoplasty patients and .84 for controls. Sensitivity was 89.6% and specificity 81.4%. BDDQ-AS-positive patients (n = 55) were more impaired in daily life and experienced more appearance-related distress and dysfunction compared to BDDQ-AS-negative patients. Moreover, they had more severe BDD symptoms. Finally, BDDQ-AS-positive patients were less satisfied after surgery compared to BDDQ-AS-negative patients. We hereby validated a new screening tool for BDD in an aesthetic rhinoplasty population. 3b. Laryngoscope, 126:1739-1745, 2016. © 2016 The American Laryngological, Rhinological and Otological Society, Inc.

  6. 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.

  7. A Review of Body Dysmorphic Disorder in Aesthetic Surgery Patients and the Legal Implications.

    PubMed

    Sweis, Iliana E; Spitz, Jamie; Barry, David R; Cohen, Mimis

    2017-08-01

    Body dysmorphic disorder (BDD) is an often under-recognized yet severe psychiatric illness. There is limited guidance for plastic surgeons in the USA in how to recognize and manage patients with BDD and protect themselves from potential litigation and harm. Therefore, in collaboration with legal counsel, we remind our profession of the serious nature of patients with BDD, provide warning signs for recognizing BDD, and critically evaluate the validity of informed consent and the legal ramifications of operating on such patients in the USA. A literature review was performed to clearly define the psychopathology of BDD and identify cases of patients with BDD who underwent cosmetic surgery resulting in potential threats to the surgeon. An additional search of the legal literature was performed in collaboration with legal counsel to identify key cases of patients with BDD attempting litigation following cosmetic surgery procedures. The diagnostic criteria and psychopathology of BDD are presented. Warning signs are highlighted to alert the plastic surgeon to patients at high risk for BDD. Strategies for legal protection include a pre-procedure checklist for patients that are suspected of having a BDD diagnosis. Body dysmorphic disorder is prevalent in the cosmetic surgery population. Patients with BDD often have a poor outcome following aesthetic surgery, which can result in a dangerous or even deadly situation for the surgeon. We aim to remind aesthetic plastic surgeons of the psychopathology, severity, and specific risks associated with operating on patients with BDD while suggesting specific protective strategies. This journal requires that authors assign a level of evidence to each submission to which Evidence-Based Medicine rankings are applicable. This excludes Review Articles, Book Reviews, and manuscripts that concern Basic Science, Animal Studies, Cadaver Studies, and Experimental Studies. For a full description of these Evidence-Based Medicine ratings, please

  8. Facial reanimation with gracilis muscle transfer neurotized to cross-facial nerve graft versus masseteric nerve: a comparative study using the FACIAL CLIMA evaluating system.

    PubMed

    Hontanilla, Bernardo; Marre, Diego; Cabello, Alvaro

    2013-06-01

    Longstanding unilateral facial paralysis is best addressed with microneurovascular muscle transplantation. Neurotization can be obtained from the cross-facial or the masseter nerve. The authors present a quantitative comparison of both procedures using the FACIAL CLIMA system. Forty-seven patients with complete unilateral facial paralysis underwent reanimation with a free gracilis transplant neurotized to either a cross-facial nerve graft (group I, n=20) or to the ipsilateral masseteric nerve (group II, n=27). Commissural displacement and commissural contraction velocity were measured using the FACIAL CLIMA system. Postoperative intragroup commissural displacement and commissural contraction velocity means of the reanimated versus the normal side were first compared using the independent samples t test. Mean percentage of recovery of both parameters were compared between the groups using the independent samples t test. Significant differences of mean commissural displacement and commissural contraction velocity between the reanimated side and the normal side were observed in group I (p=0.001 and p=0.014, respectively) but not in group II. Intergroup comparisons showed that both commissural displacement and commissural contraction velocity were higher in group II, with significant differences for commissural displacement (p=0.048). Mean percentage of recovery of both parameters was higher in group II, with significant differences for commissural displacement (p=0.042). Free gracilis muscle transfer neurotized by the masseteric nerve is a reliable technique for reanimation of longstanding facial paralysis. Compared with cross-facial nerve graft neurotization, this technique provides better symmetry and a higher degree of recovery. Therapeutic, III.

  9. Restoration of the Donor Face After Facial Allotransplantation

    PubMed Central

    Grant, Gerald T.; Liacouras, Peter; Santiago, Gabriel F.; Garcia, Juan R.; Al Rakan, Mohammed; Murphy, Ryan; Armand, Mehran; Gordon, Chad R.

    2014-01-01

    Introduction Current protocols for facial transplantation include the mandatory fabrication of an alloplastic “mask” to restore the congruency of the donor site in the setting of “open casket” burial. However, there is currently a paucity of literature describing the current state-of-the-art and available options. Methods During this study, we identified that most of donor masks are fabricated using conventional methods of impression, molds, silicone, and/or acrylic application by an experienced anaplastologist or maxillofacial prosthetics technician. However, with the recent introduction of several enhanced computer-assisted technologies, our facial transplant team hypothesized that there were areas for improvement with respect to cost and preparation time. Results The use of digital imaging for virtual surgical manipulation, computer-assisted planning, and prefabricated surgical cutting guides—in the setting of facial transplantation—provided us a novel opportunity for digital design and fabrication of a donor mask. The results shown here demonstrate an acceptable appearance for “open-casket” burial while maintaining donor identity after facial organ recovery. Conclusions Several newer techniques for fabrication of facial transplant donor masks exist currently and are described within the article. These encompass digital impression, digital design, and additive manufacturing technology. PMID:24835867

  10. Facial transplantation revisited: findings from the very first public engagement exercise.

    PubMed

    Gwanmesia, Ivo; Clarke, Alex; Butler, Peter E M

    2011-01-01

    Facial transplantation has emerged as a treatment option in facial reconstruction. In this pilot study, we investigate initial attitudes to this concept in relevant patient and health professional groups. Attitudes towards facial transplantation as a procedure were examined among 200 participants, including 30 nurses, 30 doctors, 30 plastic surgeons, 30 renal transplant patients, 30 medical students, 30 members of the lay public and 20 patients with facial disfigurements through the use of a questionnaire. Identity was important for all participating groups with 83.5% positive about receiving a facial transplant provided no resemblance to donor. There was an inverse relationship between the side effects of the immunosuppressant regimen and organ rejection and the willingness to undergo facial transplantation when compared to other forms of organ transplantation. A relationship to the recipient and familiarity with a transplant programme were positively related to potential donation. This study identifies the key issues of altered identity and the understanding of immunosuppression and surgical risk as the focus for research and patient selection. The ethical aspects of facial transplantation are not addressed in this study, and have been addressed elsewhere. Copyright © 2011 Surgical Associates Ltd. Published by Elsevier Ltd. All rights reserved.

  11. Psychometric challenges and proposed solutions when scoring facial emotion expression codes.

    PubMed

    Olderbak, Sally; Hildebrandt, Andrea; Pinkpank, Thomas; Sommer, Werner; Wilhelm, Oliver

    2014-12-01

    Coding of facial emotion expressions is increasingly performed by automated emotion expression scoring software; however, there is limited discussion on how best to score the resulting codes. We present a discussion of facial emotion expression theories and a review of contemporary emotion expression coding methodology. We highlight methodological challenges pertinent to scoring software-coded facial emotion expression codes and present important psychometric research questions centered on comparing competing scoring procedures of these codes. Then, on the basis of a time series data set collected to assess individual differences in facial emotion expression ability, we derive, apply, and evaluate several statistical procedures, including four scoring methods and four data treatments, to score software-coded emotion expression data. These scoring procedures are illustrated to inform analysis decisions pertaining to the scoring and data treatment of other emotion expression questions and under different experimental circumstances. Overall, we found applying loess smoothing and controlling for baseline facial emotion expression and facial plasticity are recommended methods of data treatment. When scoring facial emotion expression ability, maximum score is preferred. Finally, we discuss the scoring methods and data treatments in the larger context of emotion expression research.

  12. [Vascular malformations in the Williams-Beuren syndrome: report of three new cases].

    PubMed

    Sator, Hicham; Rhouni, Fatima Ezzahra; Benjouad, Ibitihale; Rhouni, Fatima Ezzahra; Benjouad, Ibitihale; Dafiri, Rachida; Chat, Latifa

    2016-01-01

    The Williams-Beuren syndrome is a rare genetic disease. It combines classically specific facial dysmorphism, cardiovascular malformations and specific neuropsychological profile. We report three cases of Williams-Beuren syndrome in children with particular emphasis on vascular abnormalities observed on CT angiography and MR angiography.

  13. 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

  14. 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

  15. Are facial injuries really different? An observational cohort study comparing appearance concern and psychological distress in facial trauma and non-facial trauma patients.

    PubMed

    Rahtz, Emmylou; Bhui, Kamaldeep; Hutchison, Iain; Korszun, Ania

    2018-01-01

    Facial injuries are widely assumed to lead to stigma and significant psychosocial burden. Experimental studies of face perception support this idea, but there is very little empirical evidence to guide treatment. This study sought to address the gap. Data were collected from 193 patients admitted to hospital following facial or other trauma. Ninety (90) participants were successfully followed up 8 months later. Participants completed measures of appearance concern and psychological distress (post-traumatic stress symptoms (PTSS), depressive symptoms, anxiety symptoms). Participants were classified by site of injury (facial or non-facial injury). The overall levels of appearance concern were comparable to those of the general population, and there was no evidence of more appearance concern among people with facial injuries. Women and younger people were significantly more likely to experience appearance concern at baseline. Baseline and 8-month psychological distress, although common in the sample, did not differ according to the site of injury. Changes in appearance concern were, however, strongly associated with psychological distress at follow-up. We conclude that although appearance concern is severe among some people with facial injury, it is not especially different to those with non-facial injuries or the general public; changes in appearance concern, however, appear to correlate with psychological distress. We therefore suggest that interventions might focus on those with heightened appearance concern and should target cognitive bias and psychological distress. Copyright © 2017 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  16. The Relationships between Processing Facial Identity, Emotional Expression, Facial Speech, and Gaze Direction during Development

    ERIC Educational Resources Information Center

    Spangler, Sibylle M.; Schwarzer, Gudrun; Korell, Monika; Maier-Karius, Johanna

    2010-01-01

    Four experiments were conducted with 5- to 11-year-olds and adults to investigate whether facial identity, facial speech, emotional expression, and gaze direction are processed independently of or in interaction with one another. In a computer-based, speeded sorting task, participants sorted faces according to facial identity while disregarding…

  17. Intratemporal facial nerve ultrastructure in patients with idiopathic facial paralysis: viral infection evidence study.

    PubMed

    Florez, Rosangela Aló Maluza; Lang, Raquel; Veridiano, Adriano Mora; Zanini, Renato de Oliveira; Calió, Pedro Luiz; Simões, Ricardo Dos Santos; Testa, José Ricardo Gurgel

    2010-01-01

    The etiology of idiopathic peripheral facial palsy (IPFP) is still uncertain; however, some authors suggest the possibility of a viral infection. to analyze the ultrastructure of the facial nerve seeking viral evidences that might provide etiological data. We studied 20 patients with peripheral facial palsy (PFP), with moderate to severe FP, of both genders, between 18-60 years of age, from the Clinic of Facial Nerve Disorders. The patients were broken down into two groups - Study: eleven patients with IPFP and Control: nine patients with trauma or tumor-related PFP. The fragments were obtained from the facial nerve sheath or from fragments of its stumps - which would be discarded or sent to pathology exam during the facial nerve repair surgery. The removed tissue was fixed in 2% glutaraldehyde, and studied under Electronic Transmission Microscopy. In the study group we observed an intense repair cellular activity by increased collagen fibers, fibroblasts containing developed organelles, free of viral particles. In the control group this repair activity was not evident, but no viral particles were observed. There were no viral particles, and there were evidences of intense activity of repair or viral infection.

  18. 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.

  19. Selfie use: The implications for psychopathology expression of body dysmorphic disorder

    PubMed Central

    Khanna, Anisha; Sharma, Manoj Kumar

    2017-01-01

    Preoccupation with a body part can lead to indulgence in various forms of coping behavior. Users are frequently using technology as well as selfie to overcome their anxiety to relate to a body part as well as get approval from other online users. The present case highlights the excessive use of selfie to manage the distress-related body dysmorphic disorder (BDD). Psychiatric interview and assessment tools were used to elicit information about BDD, technology use, and affective states. Repeated use of selfie has been thought to manage the distress associated with appearance. It implies the need for screening excessive use of technology as comorbid condition and psychoeducation for promotion of healthy use of technology. PMID:29456333

  20. Mapping and Manipulating Facial Expression

    ERIC Educational Resources Information Center

    Theobald, Barry-John; Matthews, Iain; Mangini, Michael; Spies, Jeffrey R.; Brick, Timothy R.; Cohn, Jeffrey F.; Boker, Steven M.

    2009-01-01

    Nonverbal visual cues accompany speech to supplement the meaning of spoken words, signify emotional state, indicate position in discourse, and provide back-channel feedback. This visual information includes head movements, facial expressions and body gestures. In this article we describe techniques for manipulating both verbal and nonverbal facial…

  1. Facial expressions and pair bonds in hylobatids.

    PubMed

    Florkiewicz, Brittany; Skollar, Gabriella; Reichard, Ulrich H

    2018-06-06

    Facial expressions are an important component of primate communication that functions to transmit social information and modulate intentions and motivations. Chimpanzees and macaques, for example, produce a variety of facial expressions when communicating with conspecifics. Hylobatids also produce various facial expressions; however, the origin and function of these facial expressions are still largely unclear. It has been suggested that larger facial expression repertoires may have evolved in the context of social complexity, but this link has yet to be tested at a broader empirical basis. The social complexity hypothesis offers a possible explanation for the evolution of complex communicative signals such as facial expressions, because as the complexity of an individual's social environment increases so does the need for communicative signals. We used an intraspecies, pair-focused study design to test the link between facial expressions and sociality within hylobatids, specifically the strength of pair-bonds. The current study compared 206 hr of video and 103 hr of focal animal data for ten hylobatid pairs from three genera (Nomascus, Hoolock, and Hylobates) living at the Gibbon Conservation Center. Using video footage, we explored 5,969 facial expressions along three dimensions: repertoire use, repertoire breadth, and facial expression synchrony [FES]. We then used focal animal data to compare dimensions of facial expressiveness to pair bond strength and behavioral synchrony. Hylobatids in our study overlapped in only half of their facial expressions (50%) with the only other detailed, quantitative study of hylobatid facial expressions, while 27 facial expressions were uniquely observed in our study animals. Taken together, hylobatids have a large facial expression repertoire of at least 80 unique facial expressions. Contrary to our prediction, facial repertoire composition was not significantly correlated with pair bond strength, rates of territorial synchrony

  2. Randomised controlled trials of psychological & pharmacological treatments for body dysmorphic disorder: A systematic review.

    PubMed

    Phillipou, Andrea; Rossell, Susan L; Wilding, Helen E; Castle, David J

    2016-11-30

    Treatment for body dysmorphic disorder (BDD) often involves a combination of psychological and pharmacological interventions. However, only a small number of randomised controlled trials (RCTs) have been undertaken examining the efficacy of different therapeutic interventions. The aim of this study was to systematically review the RCTs involving psychological and pharmacological interventions for the treatment of BDD. The literature was searched to June 2015, and studies were included if they were written in English, empirical research papers published in peer-review journals, specifically assessed BDD patients, and involved a RCT assessing BDD symptoms pre- and post-intervention. Nine studies were identified: six involving psychological and three involving pharmacological interventions. Cognitive behaviour therapy, metacognitive therapy and selective serotonin reuptake inhibitors were identified as treatments with potential benefit. The small number of RCTs and the heterogeneity of findings emphasises the need for more high quality RCTs assessing both psychological and pharmacological interventions for BDD. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  3. Impact of facial defect reconstruction on attractiveness and negative facial perception.

    PubMed

    Dey, Jacob K; Ishii, Masaru; Boahene, Kofi D O; Byrne, Patrick; Ishii, Lisa E

    2015-06-01

    Measure the impact of facial defect reconstruction on observer-graded attractiveness and negative facial perception. Prospective, randomized, controlled experiment. One hundred twenty casual observers viewed images of faces with defects of varying sizes and locations before and after reconstruction as well as normal comparison faces. Observers rated attractiveness, defect severity, and how disfiguring, bothersome, and important to repair they considered each face. Facial defects decreased attractiveness -2.26 (95% confidence interval [CI]: -2.45, -2.08) on a 10-point scale. Mixed effects linear regression showed this attractiveness penalty varied with defect size and location, with large and central defects generating the greatest penalty. Reconstructive surgery increased attractiveness 1.33 (95% CI: 1.18, 1.47), an improvement dependent upon size and location, restoring some defect categories to near normal ranges of attractiveness. Iterated principal factor analysis indicated the disfiguring, important to repair, bothersome, and severity variables were highly correlated and measured a common domain; thus, they were combined to create the disfigured, important to repair, bothersome, severity (DIBS) factor score, representing negative facial perception. The DIBS regression showed defect faces have a 1.5 standard deviation increase in negative perception (DIBS: 1.69, 95% CI: 1.61, 1.77) compared to normal faces, which decreased by a similar magnitude after surgery (DIBS: -1.44, 95% CI: -1.49, -1.38). These findings varied with defect size and location. Surgical reconstruction of facial defects increased attractiveness and decreased negative social facial perception, an impact that varied with defect size and location. These new social perception data add to the evidence base demonstrating the value of high-quality reconstructive surgery. NA. © 2015 The American Laryngological, Rhinological and Otological Society, Inc.

  4. Imaging the Facial Nerve: A Contemporary Review

    PubMed Central

    Gupta, Sachin; Mends, Francine; Hagiwara, Mari; Fatterpekar, Girish; Roehm, Pamela C.

    2013-01-01

    Imaging plays a critical role in the evaluation of a number of facial nerve disorders. The facial nerve has a complex anatomical course; thus, a thorough understanding of the course of the facial nerve is essential to localize the sites of pathology. Facial nerve dysfunction can occur from a variety of causes, which can often be identified on imaging. Computed tomography and magnetic resonance imaging are helpful for identifying bony facial canal and soft tissue abnormalities, respectively. Ultrasound of the facial nerve has been used to predict functional outcomes in patients with Bell's palsy. More recently, diffusion tensor tractography has appeared as a new modality which allows three-dimensional display of facial nerve fibers. PMID:23766904

  5. 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.

  6. Facial lacerations in children.

    PubMed

    Hwang, Kun; Huan, Fan; Hwang, Pil Joong; Sohn, In Ah

    2013-03-01

    The aim of this study was to evaluate the demographics and treatment of facial lacerations in pediatric patients. A retrospective record-based analysis was administered on 3783 patients (<15 years of age) presenting with facial lacerations from March 2002 to February 2011. Males were injured more frequently across all age groups (65.3%) and especially in the 13- to 15-year-old group (81.3%) (P = 0.012, Pearson χ). Overall, 48.9% of injuries occurred outdoors and 45.1% in homes. Only 6.0% occurred in schools or kindergartens. Injuries that occurred in schools or kindergarten increased with the age groups (from 2.3% for 0- to 3-year-olds to 19.1% for 13- to 15-year-olds). In the age groups younger than 12 years, injury occurred more frequently on the weekend. In the 13-to 15-year-old group, however, injury occurred more frequently on weekdays (odds ratio, 2.46). Injury occurred most frequently at the times of 7 to 9 PM and least frequently from midnight to 6 AM. The most frequent cause of injury in children was by being struck or by bumping something (32.5%), followed by slip-down (31.5%). Accidents involving furniture and stairs accounted for 9% each. Accidents caused by stairs decreased with age (from 10.2% for 0-3 years of age to 5.5% for 13-15 years of age, P = 0.000, Pearson χ). In a little less than half (47.2%) of the cases, parents accompanied their children at the time of injury. In the 13- to 15-year age group, only 17.9% of the children were accompanied by their parents. Foreheads (26.4%) took the brunt of most frequent injuries, followed by the eyelids (20.6%), eyebrows including the glabella (19.7%), and chin injuries (15.7%). Only 58 cases had associated injuries. Among 3783 cases of facial lacerations, 3745 patients did not have facial bone fractures or associated injuries and were managed under local anesthesia or through dressings only. A sound knowledge about the epidemiology of lacerations might be beneficial for the prevention of pediatric

  7. Physical therapy for Bell's palsy (idiopathic facial paralysis).

    PubMed

    Teixeira, Lázaro J; Valbuza, Juliana S; Prado, Gilmar F

    2011-12-07

    Bell's palsy (idiopathic facial paralysis) is commonly treated by various physical therapy strategies and devices, but there are many questions about their efficacy. To evaluate physical therapies for Bell's palsy (idiopathic facial palsy). We searched the Cochrane Database of Systematic Reviews and the Cochrane Central Register of Controlled Trials (The Cochrane Library, Issue 1, 2011), MEDLINE (January 1966 to February 2011), EMBASE (January 1946 to February 2011), LILACS (January 1982 to February 2011), PEDro (from 1929 to February 2011), and CINAHL (January 1982 to February 2011). We included searches in clinical trials register databases until February 2011. We selected randomised or quasi-randomised controlled trials involving any physical therapy. We included participants of any age with a diagnosis of Bell's palsy and all degrees of severity. The outcome measures were: incomplete recovery six months after randomisation, motor synkinesis, crocodile tears or facial spasm six months after onset, incomplete recovery after one year and adverse effects attributable to the intervention. Two authors independently scrutinised titles and abstracts identified from the search results. Two authors independently carried out risk of bias assessments, which , took into account secure methods of randomisation, allocation concealment, observer blinding, patient blinding, incomplete outcome data, selective outcome reporting and other bias. Two authors independently extracted data using a specially constructed data extraction form. We undertook separate subgroup analyses of participants with more and less severe disability. For this update to the original review, the search identified 65 potentially relevant articles. Twelve studies met the inclusion criteria (872 participants). Four trials studied the efficacy of electrical stimulation (313 participants), three trials studied exercises (199 participants), and five studies compared or combined some form of physical therapy

  8. Processing of subliminal facial expressions of emotion: a behavioral and fMRI study.

    PubMed

    Prochnow, D; Kossack, H; Brunheim, S; Müller, K; Wittsack, H-J; Markowitsch, H-J; Seitz, R J

    2013-01-01

    The recognition of emotional facial expressions is an important means to adjust behavior in social interactions. As facial expressions widely differ in their duration and degree of expressiveness, they often manifest with short and transient expressions below the level of awareness. In this combined behavioral and fMRI study, we aimed at examining whether or not consciously accessible (subliminal) emotional facial expressions influence empathic judgments and which brain activations are related to it. We hypothesized that subliminal facial expressions of emotions masked with neutral expressions of the same faces induce an empathic processing similar to consciously accessible (supraliminal) facial expressions. Our behavioral data in 23 healthy subjects showed that subliminal emotional facial expressions of 40 ms duration affect the judgments of the subsequent neutral facial expressions. In the fMRI study in 12 healthy subjects it was found that both, supra- and subliminal emotional facial expressions shared a widespread network of brain areas including the fusiform gyrus, the temporo-parietal junction, and the inferior, dorsolateral, and medial frontal cortex. Compared with subliminal facial expressions, supraliminal facial expressions led to a greater activation of left occipital and fusiform face areas. We conclude that masked subliminal emotional information is suited to trigger processing in brain areas which have been implicated in empathy and, thereby in social encounters.

  9. Facial nerve palsy due to birth trauma

    MedlinePlus

    Seventh cranial nerve palsy due to birth trauma; Facial palsy - birth trauma; Facial palsy - neonate; Facial palsy - infant ... An infant's facial nerve is also called the seventh cranial nerve. It can be damaged just before or at the time of delivery. ...

  10. Quality of life in adults with facial port-wine stains

    PubMed Central

    Hagen, Solveig L.; Grey, Katherine R.; Korta, Dorota Z.; Kelly, Kristen M.

    2018-01-01

    Background Facial port-wine stains (PWS) are considered by some an aesthetic skin problem, yet impact on quality of life (QoL) has not been objectively documented. Objective We sought to (1) characterize the effect of PWS on QoL in adults, (2) to identify the clinical and demographic factors that affect QoL, and (3) to compare our results with QoL studies in other skin conditions. Methods In total, 244 adults with facial PWS completed an online QoL survey, which included the Skindex-29 instrument. Results QoL in adults with facial PWS was diminished, especially from an emotional perspective. Variables associated with reduced QoL in all Skindex-29 subdomains included comorbid depression, limited facial mobility, and presence of other skin conditions. Persons with hypertrophy had more emotional and symptomatic impairment. The composite dermatologic-specific QoL scores were similar to those of cutaneous T-cell lymphoma, rosacea, alopecia, and vitiligo. Limitations Selection bias was a potential limitation, as participants were primarily recruited from patient support groups. Conclusion Our analysis demonstrates that the presence of a facial PWS has a significant negative impact on QoL. Dermatologists caring for patients with PWS should inquire about QoL, provide appropriate support and resources, and consider QoL when discussing treatment options and obtaining authorization for these procedures. PMID:27955934

  11. Use of Facial Recognition Software to Identify Disaster Victims With Facial Injuries.

    PubMed

    Broach, John; Yong, Rothsovann; Manuell, Mary-Elise; Nichols, Constance

    2017-10-01

    After large-scale disasters, victim identification frequently presents a challenge and a priority for responders attempting to reunite families and ensure proper identification of deceased persons. The purpose of this investigation was to determine whether currently commercially available facial recognition software can successfully identify disaster victims with facial injuries. Photos of 106 people were taken before and after application of moulage designed to simulate traumatic facial injuries. These photos as well as photos from volunteers' personal photo collections were analyzed by using facial recognition software to determine whether this technology could accurately identify a person with facial injuries. The study results suggest that a responder could expect to get a correct match between submitted photos and photos of injured patients between 39% and 45% of the time and a much higher percentage of correct returns if submitted photos were of optimal quality with percentages correct exceeding 90% in most situations. The present results suggest that the use of this software would provide significant benefit to responders. Although a correct result was returned only 40% of the time, this would still likely represent a benefit for a responder trying to identify hundreds or thousands of victims. (Disaster Med Public Health Preparedness. 2017;11:568-572).

  12. Heritabilities of Facial Measurements and Their Latent Factors in Korean Families

    PubMed Central

    Kim, Hyun-Jin; Im, Sun-Wha; Jargal, Ganchimeg; Lee, Siwoo; Yi, Jae-Hyuk; Park, Jeong-Yeon; Sung, Joohon; Cho, Sung-Il; Kim, Jong-Yeol; Kim, Jong-Il; Seo, Jeong-Sun

    2013-01-01

    Genetic studies on facial morphology targeting healthy populations are fundamental in understanding the specific genetic influences involved; yet, most studies to date, if not all, have been focused on congenital diseases accompanied by facial anomalies. To study the specific genetic cues determining facial morphology, we estimated familial correlations and heritabilities of 14 facial measurements and 3 latent factors inferred from a factor analysis in a subset of the Korean population. The study included a total of 229 individuals from 38 families. We evaluated a total of 14 facial measurements using 2D digital photographs. We performed factor analysis to infer common latent variables. The heritabilities of 13 facial measurements were statistically significant (p < 0.05) and ranged from 0.25 to 0.61. Of these, the heritability of intercanthal width in the orbital region was found to be the highest (h2 = 0.61, SE = 0.14). Three factors (lower face portion, orbital region, and vertical length) were obtained through factor analysis, where the heritability values ranged from 0.45 to 0.55. The heritability values for each factor were higher than the mean heritability value of individual original measurements. We have confirmed the genetic influence on facial anthropometric traits and suggest a potential way to categorize and analyze the facial portions into different groups. PMID:23843774

  13. 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.

  14. Facial skin color measurement based on camera colorimetric characterization

    NASA Astrophysics Data System (ADS)

    Yang, Boquan; Zhou, Changhe; Wang, Shaoqing; Fan, Xin; Li, Chao

    2016-10-01

    The objective measurement of facial skin color and its variance is of great significance as much information can be obtained from it. In this paper, we developed a new skin color measurement procedure which includes following parts: first, a new skin tone color checker made of pantone Skin Tone Color Checker was designed for camera colorimetric characterization; second, the chromaticity of light source was estimated via a new scene illumination estimation method considering several previous algorithms; third, chromatic adaption was used to convert the input facial image into output facial image which appears taken under canonical light; finally the validity and accuracy of our method was verified by comparing the results obtained by our procedure with these by spectrophotometer.

  15. Noninvasive Facial Rejuvenation. Part 1: Patient-Directed

    PubMed Central

    Commander, Sarah Jane; Chang, Daniel; Fakhro, Abdulla; Nigro, Marjory G.; Lee, Edward I.

    2016-01-01

    A proper knowledge of noninvasive facial rejuvenation is integral to the practice of a cosmetic surgeon. Noninvasive facial rejuvenation can be divided into patient- versus physician-directed modalities. Patient-directed facial rejuvenation combines the use of facial products such as sunscreen, moisturizers, retinoids, α-hydroxy acids, and various antioxidants to both maintain youthful skin and rejuvenate damaged skin. Physicians may recommend and often prescribe certain products, but the patients are in control of this type of facial rejuvenation. On the other hand, physician-directed facial rejuvenation entails modalities that require direct physician involvement, such as neuromodulators, filler injections, laser resurfacing, microdermabrasion, and chemical peels. With the successful integration of each of these modalities, a complete facial regimen can be established and patient satisfaction can be maximized. This article is the first in a three-part series describing noninvasive facial rejuvenation. The authors focus on patient-directed facial rejuvenation. It is important, however, to emphasize that even in a patient-directed modality, a physician's involvement through education and guidance is integral to its success. PMID:27478421

  16. [Clinical experience in facial nerve tumors: a review of 27 cases].

    PubMed

    Zhang, Fan; Wang, Yucheng; Dai, Chunfu; Chi, Fanglu; Zhou, Liang; Chen, Bing; Li, Huawei

    2010-01-01

    To analyze the clinical manifestations and the diagnosis of the facial nerve tumor according to the clinical information, and evaluate the different surgical approaches depending on tumor location. Twenty-seven cases of facial nerve tumors with general clinical informations available from 1999.9 to 2006.12 in the Shanghai EENT Hospital were reviewed retrospectively. Twenty (74.1%) schwannomas, 4 (14.8%) neurofibromas ,and 3 (11.1%) hemangiomas were identified with histopathology postoperatively. During the course of the disease, 23 patients (85.2%) suffered facial paralysis, both hearing loss and tinnitus affected 11 (40.7%) cases, 5 (18.5%) manifested infra-auricular mass and the others showed some of otalgia or vertigo or ear fullness or facial numbness/twitches. CT or/and MRI results in 24 cases indicated that the tumors originated from the facial nerve. Intra-operative findings showed that 24 (88.9%) cases involved no less than 2 segments of the facial nerve, of these 24 cases 87.5% (21/24) involved the mastoid portion, 70.8% (17/24) involved the tympanic portion, 62.5% (15/24) involved the geniculate ganglion, only 4.2% (1/24) involved the internal acoustic canal (IAC), and 3 cases (11.1%) had only one segments involved. In all of these 27 cases, the tumors were completely excised, of which 13 were resected followed by an immediate facial nerve reconstruction, including 11 sural nerve cable graft, 1 facial nerve end-to-end anastomosis and 1 hypoglossal-facial nerve end-to-end anastomosis. Tumors were removed with preservation of facial nerve continuity in 2 cases. Facial nerve tumor is a rare and benign lesion, and has numerous clinical manifestations. CT and MRI can help surgeons to make a right diagnosis preoperatively. When and how to give the patients an operation depends on the patients individually.

  17. Facial Indicators of Positive Emotions in Rats

    PubMed Central

    Finlayson, Kathryn; Lampe, Jessica Frances; Hintze, Sara; Würbel, Hanno; Melotti, Luca

    2016-01-01

    Until recently, research in animal welfare science has mainly focused on negative experiences like pain and suffering, often neglecting the importance of assessing and promoting positive experiences. In rodents, specific facial expressions have been found to occur in situations thought to induce negatively valenced emotional states (e.g., pain, aggression and fear), but none have yet been identified for positive states. Thus, this study aimed to investigate if facial expressions indicative of positive emotional state are exhibited in rats. Adolescent male Lister Hooded rats (Rattus norvegicus, N = 15) were individually subjected to a Positive and a mildly aversive Contrast Treatment over two consecutive days in order to induce contrasting emotional states and to detect differences in facial expression. The Positive Treatment consisted of playful manual tickling administered by the experimenter, while the Contrast Treatment consisted of exposure to a novel test room with intermittent bursts of white noise. The number of positive ultrasonic vocalisations was greater in the Positive Treatment compared to the Contrast Treatment, indicating the experience of differentially valenced states in the two treatments. The main findings were that Ear Colour became significantly pinker and Ear Angle was wider (ears more relaxed) in the Positive Treatment compared to the Contrast Treatment. All other quantitative and qualitative measures of facial expression, which included Eyeball height to width Ratio, Eyebrow height to width Ratio, Eyebrow Angle, visibility of the Nictitating Membrane, and the established Rat Grimace Scale, did not show differences between treatments. This study contributes to the exploration of positive emotional states, and thus good welfare, in rats as it identified the first facial indicators of positive emotions following a positive heterospecific play treatment. Furthermore, it provides improvements to the photography technique and image analysis for the

  18. 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.

  19. Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

    PubMed

    El Khattabi, Laïla; Guimiot, Fabien; Pipiras, Eva; Andrieux, Joris; Baumann, Clarisse; Bouquillon, Sonia; Delezoide, Anne-Lise; Delobel, Bruno; Demurger, Florence; Dessuant, Hélène; Drunat, Séverine; Dubourg, Christelle; Dupont, Céline; Faivre, Laurence; Holder-Espinasse, Muriel; Jaillard, Sylvie; Journel, Hubert; Lyonnet, Stanislas; Malan, Valérie; Masurel, Alice; Marle, Nathalie; Missirian, Chantal; Moerman, Alexandre; Moncla, Anne; Odent, Sylvie; Palumbo, Orazio; Palumbo, Pietro; Ravel, Aimé; Romana, Serge; Tabet, Anne-Claude; Valduga, Mylène; Vermelle, Marie; Carella, Massimo; Dupont, Jean-Michel; Verloes, Alain; Benzacken, Brigitte; Delahaye, Andrée

    2015-08-01

    6q16 deletions have been described in patients with a Prader-Willi-like (PWS-like) phenotype. Recent studies have shown that certain rare single-minded 1 (SIM1) loss-of-function variants were associated with a high intra-familial risk for obesity with or without features of PWS-like syndrome. Although SIM1 seems to have a key role in the phenotype of patients carrying 6q16 deletions, some data support a contribution of other genes, such as GRIK2, to explain associated behavioural problems. We describe 15 new patients in whom de novo 6q16 deletions were characterised by comparative genomic hybridisation or single-nucleotide polymorphism (SNP) array analysis, including the first patient with fetopathological data. This fetus showed dysmorphic facial features, cerebellar and cerebral migration defects with neuronal heterotopias, and fusion of brain nuclei. The size of the deletion in the 14 living patients ranged from 1.73 to 7.84 Mb, and the fetus had the largest deletion (14 Mb). Genotype-phenotype correlations confirmed the major role for SIM1 haploinsufficiency in obesity and the PWS-like phenotype. Nevertheless, only 8 of 13 patients with SIM1 deletion exhibited obesity, in agreement with incomplete penetrance of SIM1 haploinsufficiency. This study in the largest series reported to date confirms that the PWS-like phenotype is strongly linked to 6q16.2q16.3 deletions and varies considerably in its clinical expression. The possible involvement of other genes in the 6q16.2q16.3-deletion phenotype is discussed.

  20. Pediatric facial injuries: It's management.

    PubMed

    Singh, Geeta; Mohammad, Shadab; Pal, U S; Hariram; Malkunje, Laxman R; Singh, Nimisha

    2011-07-01

    Facial injuries in children always present a challenge in respect of their diagnosis and management. Since these children are of a growing age every care should be taken so that later the overall growth pattern of the facial skeleton in these children is not jeopardized. To access the most feasible method for the management of facial injuries in children without hampering the facial growth. Sixty child patients with facial trauma were selected randomly for this study. On the basis of examination and investigations a suitable management approach involving rest and observation, open or closed reduction and immobilization, trans-osseous (TO) wiring, mini bone plate fixation, splinting and replantation, elevation and fixation of zygoma, etc. were carried out. In our study fall was the predominant cause for most of the facial injuries in children. There was a 1.09% incidence of facial injuries in children up to 16 years of age amongst the total patients. The age-wise distribution of the fracture amongst groups (I, II and III) was found to be 26.67%, 51.67% and 21.67% respectively. Male to female patient ratio was 3:1. The majority of the cases of facial injuries were seen in Group II patients (6-11 years) i.e. 51.67%. The mandibular fracture was found to be the most common fracture (0.60%) followed by dentoalveolar (0.27%), mandibular + midface (0.07) and midface (0.02%) fractures. Most of the mandibular fractures were found in the parasymphysis region. Simple fracture seems to be commonest in the mandible. Most of the mandibular and midface fractures in children were amenable to conservative therapies except a few which required surgical intervention.

  1. Complications in Pediatric Facial Fractures

    PubMed Central

    Chao, Mimi T.; Losee, Joseph E.

    2009-01-01

    Despite recent advances in the diagnosis, treatment, and prevention of pediatric facial fractures, little has been published on the complications of these fractures. The existing literature is highly variable regarding both the definition and the reporting of adverse events. Although the incidence of pediatric facial fractures is relative low, they are strongly associated with other serious injuries. Both the fractures and their treatment may have long-term consequence on growth and development of the immature face. This article is a selective review of the literature on facial fracture complications with special emphasis on the complications unique to pediatric patients. We also present our classification system to evaluate adverse outcomes associated with pediatric facial fractures. Prospective, long-term studies are needed to fully understand and appreciate the complexity of treating children with facial fractures and determining the true incidence, subsequent growth, and nature of their complications. PMID:22110803

  2. Evaluation of facial attractiveness in black people according to the subjective facial analysis criteria.

    PubMed

    Melo, Andréa Reis de; Conti, Ana Cláudia de Castro Ferreira; Almeida-Pedrin, Renata Rodrigues; Didier, Victor; Valarelli, Danilo Pinelli; Capelozza Filho, Leopoldino

    2017-02-01

    The objective of this study was to evaluate the facial attractiveness in 30 black individuals, according to the Subjective Facial Analysis criteria. Frontal and profile view photographs of 30 black individuals were evaluated for facial attractiveness and classified as esthetically unpleasant, acceptable, or pleasant by 50 evaluators: the 30 individuals from the sample, 10 orthodontists, and 10 laymen. Besides assessing the facial attractiveness, the evaluators had to identify the structures responsible for the classification as unpleasant and pleasant. Intraexaminer agreement was assessed by using Spearman's correlation, correlation within each category using Kendall concordance coefficient, and correlation between the 3 categories using chi-square test and proportions. Most of the frontal (53. 5%) and profile view (54. 9%) photographs were classified as esthetically acceptable. The structures most identified as esthetically unpleasant were the mouth, lips, and face, in the frontal view; and nose and chin in the profile view. The structures most identified as esthetically pleasant were harmony, face, and mouth, in the frontal view; and harmony and nose in the profile view. The ratings by the examiners in the sample and laymen groups showed statistically significant correlation in both views. The orthodontists agreed with the laymen on the evaluation of the frontal view and disagreed on profile view, especially regarding whether the images were esthetically unpleasant or acceptable. Based on these results, the evaluation of facial attractiveness according to the Subjective Facial Analysis criteria proved to be applicable and to have a subjective influence; therefore, it is suggested that the patient's opinion regarding the facial esthetics should be considered in orthodontic treatmentplanning.

  3. The masseteric nerve: a versatile power source in facial animation techniques.

    PubMed

    Bianchi, B; Ferri, A; Ferrari, S; Copelli, C; Salvagni, L; Sesenna, E

    2014-03-01

    The masseteric nerve has many advantages including low morbidity, its proximity to the facial nerve, the strong motor impulse, its reliability, and the fast reinnervation that is achievable in most patients. Reinnervation of a neuromuscular transplant is the main indication for its use, but it has been used for the treatment of recent facial palsies with satisfactory results. We have retrospectively evaluated 60 patients who had facial animation procedures using the masseteric nerve during the last 10 years. The patients included those with recent, and established or congenital, unilateral and bilateral palsies. The masseteric nerve was used for coaptation of the facial nerve either alone or in association with crossfacial nerve grafting, or for the reinnervation of gracilis neuromuscular transplants. Reinnervation was successful in all cases, the mean (range) time being 4 (2-5) months for facial nerve coaptation and 4 (3-7) months for neuromuscular transplants. Cosmesis was evaluated (moderate, n=10, good, n=30, and excellent, n=20) as was functional outcome (no case of impairment of masticatory function, all patients able to smile, and achievement of a smile independent from biting). The masseteric nerve has many uses, including in both recent, and established or congenital, cases. In some conditions it is the first line of treatment. The combination of combined techniques gives excellent results in unilateral palsies and should therefore be considered a valid option. Copyright © 2014 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  4. Deficient functional recovery after facial nerve crush in rats is associated with restricted rearrangements of synaptic terminals in the facial nucleus.

    PubMed

    Hundeshagen, G; Szameit, K; Thieme, H; Finkensieper, M; Angelov, D N; Guntinas-Lichius, O; Irintchev, A

    2013-09-17

    Crush injuries of peripheral nerves typically lead to axonotmesis, axonal damage without disruption of connective tissue sheaths. Generally, human patients and experimental animals recover well after axonotmesis and the favorable outcome has been attributed to precise axonal reinnervation of the original peripheral targets. Here we assessed functionally and morphologically the long-term consequences of facial nerve axonotmesis in rats. Expectedly, we found that 5 months after crush or cryogenic nerve lesion, the numbers of motoneurons with regenerated axons and their projection pattern into the main branches of the facial nerve were similar to those in control animals suggesting precise target reinnervation. Unexpectedly, however, we found that functional recovery, estimated by vibrissal motion analysis, was incomplete at 2 months after injury and did not improve thereafter. The maximum amplitude of whisking remained substantially, by more than 30% lower than control values even 5 months after axonotmesis. Morphological analyses showed that the facial motoneurons ipsilateral to injury were innervated by lower numbers of glutamatergic terminals (-15%) and cholinergic perisomatic boutons (-26%) compared with the contralateral non-injured motoneurons. The structural deficits were correlated with functional performance of individual animals and associated with microgliosis in the facial nucleus but not with polyinnervation of muscle fibers. These results support the idea that restricted CNS plasticity and insufficient afferent inputs to motoneurons may substantially contribute to functional deficits after facial nerve injuries, possibly including pathologic conditions in humans like axonotmesis in idiopathic facial nerve (Bell's) palsy. Copyright © 2013 IBRO. Published by Elsevier Ltd. All rights reserved.

  5. The localization of facial motor impairment in sporadic Möbius syndrome.

    PubMed

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

    2006-06-27

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

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

    PubMed

    Buzayan, Muaiyed M

    2014-02-01

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

  7. 22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS.

    PubMed

    Alp, M Y; Çebi, A H; Seyhan, S; Cansu, A; Aydin, H; Ikbal, M

    2016-01-01

    Partial deletion of the long arm of the chromosome 13, 13q deletion syndrome is a rare chromosomal disorder characterized by severe growth and mental retardation, microcephaly, facial dysmorphism, brain malformations (holoprosencephaly, Dandy-Walker malformation), distal limb defects, eye anomalies, genitourinary and gastrointestinal tract malformations (Hirschsprung's disease). Approximately 1.2 Mb region in 13q32 was suggested as minimal critical region which is responsible for severe mental and growth retardation and brain anomalies. Here we described a male patient with de novo interstitial deletion of 13q31.1-q34 associated with short stature, microcephaly, facial dysmorphism, clinodactyly, cryptorchidism, micropenis, epilepsy, HPE, DWM, and HSCR. According to the literature review, present case indicated that smallest deleted region associated with DWM and HPE might be located at the 13q32.3, limb defects 13q34, anogenital malformations 13q33.3-34, and HSCR 13q31.1-32.1.

  8. Operant conditioning of facial displays of pain.

    PubMed

    Kunz, Miriam; Rainville, Pierre; Lautenbacher, Stefan

    2011-06-01

    The operant model of chronic pain posits that nonverbal pain behavior, such as facial expressions, is sensitive to reinforcement, but experimental evidence supporting this assumption is sparse. The aim of the present study was to investigate in a healthy population a) whether facial pain behavior can indeed be operantly conditioned using a discriminative reinforcement schedule to increase and decrease facial pain behavior and b) to what extent these changes affect pain experience indexed by self-ratings. In the experimental group (n = 29), the participants were reinforced every time that they showed pain-indicative facial behavior (up-conditioning) or a neutral expression (down-conditioning) in response to painful heat stimulation. Once facial pain behavior was successfully up- or down-conditioned, respectively (which occurred in 72% of participants), facial pain displays and self-report ratings were assessed. In addition, a control group (n = 11) was used that was yoked to the reinforcement plans of the experimental group. During the conditioning phases, reinforcement led to significant changes in facial pain behavior in the majority of the experimental group (p < .001) but not in the yoked control group (p > .136). Fine-grained analyses of facial muscle movements revealed a similar picture. Furthermore, the decline in facial pain displays (as observed during down-conditioning) strongly predicted changes in pain ratings (R(2) = 0.329). These results suggest that a) facial pain displays are sensitive to reinforcement and b) that changes in facial pain displays can affect self-report ratings.

  9. Facial Displays Are Tools for Social Influence.

    PubMed

    Crivelli, Carlos; Fridlund, Alan J

    2018-05-01

    Based on modern theories of signal evolution and animal communication, the behavioral ecology view of facial displays (BECV) reconceives our 'facial expressions of emotion' as social tools that serve as lead signs to contingent action in social negotiation. BECV offers an externalist, functionalist view of facial displays that is not bound to Western conceptions about either expressions or emotions. It easily accommodates recent findings of diversity in facial displays, their public context-dependency, and the curious but common occurrence of solitary facial behavior. Finally, BECV restores continuity of human facial behavior research with modern functional accounts of non-human communication, and provides a non-mentalistic account of facial displays well-suited to new developments in artificial intelligence and social robotics. Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.

  10. Facial disability index (FDI): Adaptation to Spanish, reliability and validity

    PubMed Central

    Gonzalez-Cardero, Eduardo; Cayuela, Aurelio; Acosta-Feria, Manuel; Gutierrez-Perez, Jose-Luis

    2012-01-01

    Objectives: To adapt to Spanish the facial disability index (FDI) described by VanSwearingen and Brach in 1995 and to assess its reliability and validity in patients with facial nerve paresis after parotidectomy. Study Design: The present study was conducted in two different stages: a) cross-cultural adaptation of the questionnaire and b) cross-sectional study of a control group of 79 Spanish-speaking patients who suffered facial paresis after superficial parotidectomy with facial nerve preservation. The cross-cultural adaptation process comprised the following stages: (I) initial translation, (II) synthesis of the translated document, (III) retro-translation, (IV) review by a board of experts, (V) pilot study of the pre-final draft and (VI) analysis of the pilot study and final draft. Results: The reliability and internal consistency of every one of the rating scales included in the FDI (Cronbach’s alpha coefficient) was 0.83 for the complete scale and 0.77 and 0.82 for the physical and the social well-being subscales. The analysis of the factorial validity of the main components of the adapted FDI yielded similar results to the original questionnaire. Bivariate correlations between FDI and House-Brackmann scale were positive. The variance percentage was calculated for all FDI components. Conclusions: The FDI questionnaire is a specific instrument for assessing facial neuromuscular dysfunction which becomes a useful tool in order to determine quality of life in patients with facial nerve paralysis. Spanish adapted FDI is equivalent to the original questionnaire and shows similar reliability and validity. The proven reproducibi-lity, reliability and validity of this questionnaire make it a useful additional tool for evaluating the impact of facial nerve paralysis in Spanish-speaking patients. Key words:Parotidectomy, facial nerve paralysis, facial disability. PMID:22926474

  11. Fusiform gyrus volume reduction and facial recognition in chronic schizophrenia.

    PubMed

    Onitsuka, Toshiaki; Shenton, Martha E; Kasai, Kiyoto; Nestor, Paul G; Toner, Sarah K; Kikinis, Ron; Jolesz, Ferenc A; McCarley, Robert W

    2003-04-01

    The fusiform gyrus (FG), or occipitotemporal gyrus, is thought to subserve the processing and encoding of faces. Of note, several studies have reported that patients with schizophrenia show deficits in facial processing. It is thus hypothesized that the FG might be one brain region underlying abnormal facial recognition in schizophrenia. The objectives of this study were to determine whether there are abnormalities in gray matter volumes for the anterior and the posterior FG in patients with chronic schizophrenia and to investigate relationships between FG subregions and immediate and delayed memory for faces. Patients were recruited from the Boston VA Healthcare System, Brockton Division, and control subjects were recruited through newspaper advertisement. Study participants included 21 male patients diagnosed as having chronic schizophrenia and 28 male controls. Participants underwent high-spatial-resolution magnetic resonance imaging, and facial recognition memory was evaluated. Main outcome measures included anterior and posterior FG gray matter volumes based on high-spatial-resolution magnetic resonance imaging, a detailed and reliable manual delineation using 3-dimensional information, and correlation coefficients between FG subregions and raw scores on immediate and delayed facial memory derived from the Wechsler Memory Scale III. Patients with chronic schizophrenia had overall smaller FG gray matter volumes (10%) than normal controls. Additionally, patients with schizophrenia performed more poorly than normal controls in both immediate and delayed facial memory tests. Moreover, the degree of poor performance on delayed memory for faces was significantly correlated with the degree of bilateral anterior FG reduction in patients with schizophrenia. These results suggest that neuroanatomic FG abnormalities underlie at least some of the deficits associated with facial recognition in schizophrenia.

  12. An Age-Related Dissociation of Short-Term Memory for Facial Identity and Facial Emotional Expression.

    PubMed

    Hartley, Alan A; Ravich, Zoe; Stringer, Sarah; Wiley, Katherine

    2015-09-01

    Memory for both facial emotional expression and facial identity was explored in younger and older adults in 3 experiments using a delayed match-to-sample procedure. Memory sets of 1, 2, or 3 faces were presented, which were followed by a probe after a 3-s retention interval. There was very little difference between younger and older adults in memory for emotional expressions, but memory for identity was substantially impaired in the older adults. Possible explanations for spared memory for emotional expressions include socioemotional selectivity theory as well as the existence of overlapping yet distinct brain networks for processing of different emotions. © The Author 2013. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  13. Does Facial Resemblance Enhance Cooperation?

    PubMed Central

    Giang, Trang; Bell, Raoul; Buchner, Axel

    2012-01-01

    Facial self-resemblance has been proposed to serve as a kinship cue that facilitates cooperation between kin. In the present study, facial resemblance was manipulated by morphing stimulus faces with the participants' own faces or control faces (resulting in self-resemblant or other-resemblant composite faces). A norming study showed that the perceived degree of kinship was higher for the participants and the self-resemblant composite faces than for actual first-degree relatives. Effects of facial self-resemblance on trust and cooperation were tested in a paradigm that has proven to be sensitive to facial trustworthiness, facial likability, and facial expression. First, participants played a cooperation game in which the composite faces were shown. Then, likability ratings were assessed. In a source memory test, participants were required to identify old and new faces, and were asked to remember whether the faces belonged to cooperators or cheaters in the cooperation game. Old-new recognition was enhanced for self-resemblant faces in comparison to other-resemblant faces. However, facial self-resemblance had no effects on the degree of cooperation in the cooperation game, on the emotional evaluation of the faces as reflected in the likability judgments, and on the expectation that a face belonged to a cooperator rather than to a cheater. Therefore, the present results are clearly inconsistent with the assumption of an evolved kin recognition module built into the human face recognition system. PMID:23094095

  14. Facial nerve paralysis secondary to occult malignant neoplasms.

    PubMed

    Boahene, Derek O; Olsen, Kerry D; Driscoll, Colin; Lewis, Jean E; McDonald, Thomas J

    2004-04-01

    This study reviewed patients with unilateral facial paralysis and normal clinical and imaging findings who underwent diagnostic facial nerve exploration. Study design and setting Fifteen patients with facial paralysis and normal findings were seen in the Mayo Clinic Department of Otorhinolaryngology. Eleven patients were misdiagnosed as having Bell palsy or idiopathic paralysis. Progressive facial paralysis with sequential involvement of adjacent facial nerve branches occurred in all 15 patients. Seven patients had a history of regional skin squamous cell carcinoma, 13 patients had surgical exploration to rule out a neoplastic process, and 2 patients had negative exploration. At last follow-up, 5 patients were alive. Patients with facial paralysis and normal clinical and imaging findings should be considered for facial nerve exploration when the patient has a history of pain or regional skin cancer, involvement of other cranial nerves, and prolonged facial paralysis. Occult malignancy of the facial nerve may cause unilateral facial paralysis in patients with normal clinical and imaging findings.

  15. Body dysmorphic disorder in patients undergoing septorhinoplasty surgery: should we be performing routine screening?

    PubMed

    Joseph, J; Randhawa, P; Hannan, S A; Long, J; Goh, S; O'Shea, N; Saleh, H; Hansen, E; Veale, D; Andrews, P

    2017-06-01

    Body dysmorphic disorder (BDD) is defined as having a preoccupation with a perceived flaw in one's appearance, which appears slight to others and significantly interferes with a person's functioning. When undetected in septorhinoplasty patients, it will often lead to poor outcomes. We performed a prospective cohort study to determine the prevalence of BDD in our patients and whether surgical correction could be considered. We recruited 34 patients being considered for septorhinoplasty in a tertiary referral rhinology clinic and a control group of 50 from the otology clinic giving a total of 84. Participants completed the Body Dysmorphic Disorder Questionnaire (BDDQ), the sino-nasal outcome test-23 (SNOT-23) and underwent nasal inspiratory peak flow (NIPF). Those found to be at high risk for BDD were referred to a clinical psychologist. Of the septorhinoplasty patients, 11 (32%) were high risk for BDD. Following psychological assessment, 7 (63%) patients were felt to be unsuitable for surgery and were offered psychological therapy. SNOT-23 scores were significantly higher in the BDD group indicating a negative impact on quality of life. NIPF readings were not significantly different in the BDD group compared to the control group. The BDDQ is a valid tool for identifying patients at risk of BDD. A close working relationship with clinical psychology has been advantageous to help the selection process of candidates for surgery when there is a high risk of BDD. © 2016 John Wiley & Sons Ltd.

  16. Stereotactic Radiotherapy for Intracranial Nonacoustic Schwannomas Including Facial Nerve Schwannoma

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

    Nishioka, Kentaro; Abo, Daisuke; Aoyama, Hidefumi

    2009-12-01

    Purpose: Although the effectiveness of stereotactic radiosurgery for nonacoustic schwannomas is currently being assessed, there have been few studies on the efficacy of stereotactic radiotherapy (SRT) for these tumors. We investigated the long-term outcome of SRT for nonacoustic intracranial nerve schwannomas. Methods and Materials: Seventeen patients were treated between July 1994 and December 2006. Of these patients, 7 had schwannomas located in the jugular foramen, 5 in the trigeminal nerve, 4 in the facial nerve, and 1 in the oculomotor nerve. Radiotherapy was used as an initial treatment without surgery in 10 patients (59%) and after initial subtotal resection inmore » the remaining patients. The tumor volume ranged from 0.3 to 31.3 mL (mean, 8.2 mL). The treatment dose was 40 to 54 Gy in 20 to 26 fractions. The median follow-up period was 59.5 months (range, 7.4-122.6 months). Local control was defined as stable or decreased tumor size on follow-up magnetic resonance imaging. Results: Tumor size was decreased in 3 patients, stable in 13, and increased in 1 after SRT. Regarding neurologic symptoms, 8 patients (47%) had improvement and 9 patients were unchanged. One patient had an increase in tumor size and received microsurgical resection at 32 months after irradiation. No patient had worsening of pre-existing neurologic symptoms or development of new cranial nerve deficits at the last follow-up. Conclusions: SRT is an effective alternative to surgical resection for patients with nonacoustic intracranial nerve schwannomas with respect to not only long-term local tumor control but also neuro-functional preservation.« less

  17. Pediatric facial injuries: It's management

    PubMed Central

    Singh, Geeta; Mohammad, Shadab; Pal, U. S.; Hariram; Malkunje, Laxman R.; Singh, Nimisha

    2011-01-01

    Background: Facial injuries in children always present a challenge in respect of their diagnosis and management. Since these children are of a growing age every care should be taken so that later the overall growth pattern of the facial skeleton in these children is not jeopardized. Purpose: To access the most feasible method for the management of facial injuries in children without hampering the facial growth. Materials and Methods: Sixty child patients with facial trauma were selected randomly for this study. On the basis of examination and investigations a suitable management approach involving rest and observation, open or closed reduction and immobilization, trans-osseous (TO) wiring, mini bone plate fixation, splinting and replantation, elevation and fixation of zygoma, etc. were carried out. Results and Conclusion: In our study fall was the predominant cause for most of the facial injuries in children. There was a 1.09% incidence of facial injuries in children up to 16 years of age amongst the total patients. The age-wise distribution of the fracture amongst groups (I, II and III) was found to be 26.67%, 51.67% and 21.67% respectively. Male to female patient ratio was 3:1. The majority of the cases of facial injuries were seen in Group II patients (6-11 years) i.e. 51.67%. The mandibular fracture was found to be the most common fracture (0.60%) followed by dentoalveolar (0.27%), mandibular + midface (0.07) and midface (0.02%) fractures. Most of the mandibular fractures were found in the parasymphysis region. Simple fracture seems to be commonest in the mandible. Most of the mandibular and midface fractures in children were amenable to conservative therapies except a few which required surgical intervention. PMID:22639504

  18. 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.

  19. 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.

  20. MR relaxometry for the facial ageing assessment: the preliminary study of the age dependency in the MR relaxometry parameters within the facial soft tissue.

    PubMed

    Watanabe, M; Buch, K; Fujita, A; Christiansen, C L; Jara, H; Sakai, O

    2015-01-01

    To investigate the location-specific tissue properties and age-related changes of the facial fat and facial muscles using quantitative MRI (qMRI) analysis of longitudinal magnetization (T1) and transverse magnetization (T2) values. 38 subjects (20 males and 18 females, 0.5-87 years old) were imaged with a mixed turbo-spin echo sequence at 1.5 T. T1 and T2 measurements were obtained within regions of interest in six facial fat regions including the buccal fat and subcutaneous cheek fat, four eyelid fat regions (lateral upper, medial upper, lateral lower and medial lower) and five facial muscles including the orbicularis oculi, orbicularis oris, buccinator, zygomaticus major and masseter muscles bilaterally. Within the zygomaticus major muscle, age-associated T1 decreases in females and T1 increases in males were observed in later life with an increase in T2 values with age. The orbicularis oculi muscles showed lower T1 and higher T2 values compared to the masseter, orbicularis oris and buccinator muscles, which demonstrated small age-related changes. The dramatic age-related changes were also observed in the eyelid fat regions, particularly within the lower eyelid fat; negative correlations with age in T1 values (p<0.0001 for age) and prominent positive correlation in T2 values in male subjects (p<0.0001 for male×age). Age-related changes were not observed in T2 values within the subcutaneous cheek fat. This study demonstrates proof of concept using T1 and T2 values to assess age-related changes of the facial soft tissues, demonstrating tissue-specific qMRI measurements and non-uniform ageing patterns within different regions of facial soft tissues.

  1. Face to face: blocking facial mimicry can selectively impair recognition of emotional expressions.

    PubMed

    Oberman, Lindsay M; Winkielman, Piotr; Ramachandran, Vilayanur S

    2007-01-01

    People spontaneously mimic a variety of behaviors, including emotional facial expressions. Embodied cognition theories suggest that mimicry reflects internal simulation of perceived emotion in order to facilitate its understanding. If so, blocking facial mimicry should impair recognition of expressions, especially of emotions that are simulated using facial musculature. The current research tested this hypothesis using four expressions (happy, disgust, fear, and sad) and two mimicry-interfering manipulations (1) biting on a pen and (2) chewing gum, as well as two control conditions. Experiment 1 used electromyography over cheek, mouth, and nose regions. The bite manipulation consistently activated assessed muscles, whereas the chew manipulation activated muscles only intermittently. Further, expressing happiness generated most facial action. Experiment 2 found that the bite manipulation interfered most with recognition of happiness. These findings suggest that facial mimicry differentially contributes to recognition of specific facial expressions, thus allowing for more refined predictions from embodied cognition theories.

  2. Symmetrical and Asymmetrical Interactions between Facial Expressions and Gender Information in Face Perception.

    PubMed

    Liu, Chengwei; Liu, Ying; Iqbal, Zahida; Li, Wenhui; Lv, Bo; Jiang, Zhongqing

    2017-01-01

    To investigate the interaction between facial expressions and facial gender information during face perception, the present study matched the intensities of the two types of information in face images and then adopted the orthogonal condition of the Garner Paradigm to present the images to participants who were required to judge the gender and expression of the faces; the gender and expression presentations were varied orthogonally. Gender and expression processing displayed a mutual interaction. On the one hand, the judgment of angry expressions occurred faster when presented with male facial images; on the other hand, the classification of the female gender occurred faster when presented with a happy facial expression than when presented with an angry facial expression. According to the evoked-related potential results, the expression classification was influenced by gender during the face structural processing stage (as indexed by N170), which indicates the promotion or interference of facial gender with the coding of facial expression features. However, gender processing was affected by facial expressions in more stages, including the early (P1) and late (LPC) stages of perceptual processing, reflecting that emotional expression influences gender processing mainly by directing attention.

  3. Realistic facial expression of virtual human based on color, sweat, and tears effects.

    PubMed

    Alkawaz, Mohammed Hazim; Basori, Ahmad Hoirul; Mohamad, Dzulkifli; Mohamed, Farhan

    2014-01-01

    Generating extreme appearances such as scared awaiting sweating while happy fit for tears (cry) and blushing (anger and happiness) is the key issue in achieving the high quality facial animation. The effects of sweat, tears, and colors are integrated into a single animation model to create realistic facial expressions of 3D avatar. The physical properties of muscles, emotions, or the fluid properties with sweating and tears initiators are incorporated. The action units (AUs) of facial action coding system are merged with autonomous AUs to create expressions including sadness, anger with blushing, happiness with blushing, and fear. Fluid effects such as sweat and tears are simulated using the particle system and smoothed-particle hydrodynamics (SPH) methods which are combined with facial animation technique to produce complex facial expressions. The effects of oxygenation of the facial skin color appearance are measured using the pulse oximeter system and the 3D skin analyzer. The result shows that virtual human facial expression is enhanced by mimicking actual sweating and tears simulations for all extreme expressions. The proposed method has contribution towards the development of facial animation industry and game as well as computer graphics.

  4. Realistic Facial Expression of Virtual Human Based on Color, Sweat, and Tears Effects

    PubMed Central

    Alkawaz, Mohammed Hazim; Basori, Ahmad Hoirul; Mohamad, Dzulkifli; Mohamed, Farhan

    2014-01-01

    Generating extreme appearances such as scared awaiting sweating while happy fit for tears (cry) and blushing (anger and happiness) is the key issue in achieving the high quality facial animation. The effects of sweat, tears, and colors are integrated into a single animation model to create realistic facial expressions of 3D avatar. The physical properties of muscles, emotions, or the fluid properties with sweating and tears initiators are incorporated. The action units (AUs) of facial action coding system are merged with autonomous AUs to create expressions including sadness, anger with blushing, happiness with blushing, and fear. Fluid effects such as sweat and tears are simulated using the particle system and smoothed-particle hydrodynamics (SPH) methods which are combined with facial animation technique to produce complex facial expressions. The effects of oxygenation of the facial skin color appearance are measured using the pulse oximeter system and the 3D skin analyzer. The result shows that virtual human facial expression is enhanced by mimicking actual sweating and tears simulations for all extreme expressions. The proposed method has contribution towards the development of facial animation industry and game as well as computer graphics. PMID:25136663

  5. Skin picking disorder with co-occurring body dysmorphic disorder.

    PubMed

    Grant, Jon E; Redden, Sarah A; Leppink, Eric W; Odlaug, Brian L

    2015-09-01

    There is clinical overlap between skin picking disorder (SPD) and body dysmorphic disorder (BDD), but little research has examined clinical and cognitive correlates of the two disorders when they co-occur. Of 55 participants with SPD recruited for a neurocognitive study and two pharmacological studies, 16 (29.1%) had co-occurring BDD. SPD participants with and without BDD were compared to each other and to 40 healthy volunteers on measures of symptom severity, social functioning, and cognitive assessments using the Stop-signal task (assessing response impulsivity) and the Intra-dimensional/Extra-dimensional Set Shift task (assessing cognitive flexibility). Individuals with SPD and BDD exhibited significantly worse picking, significantly worse overall psychosocial functioning, and significantly greater dysfunction on aspects of cognitive flexibility. These results indicate that when SPD co-occurs with BDD unique clinical and cognitive aspects of SPD may be more pronounced. Future work should explore possible subgroups in SPD and whether these predict different treatment outcomes. Copyright © 2015 Elsevier Ltd. All rights reserved.

  6. Morphologic evaluation and classification of facial asymmetry using 3-dimensional computed tomography.

    PubMed

    Baek, Chaehwan; Paeng, Jun-Young; Lee, Janice S; Hong, Jongrak

    2012-05-01

    A systematic classification is needed for the diagnosis and surgical treatment of facial asymmetry. The purposes of this study were to analyze the skeletal structures of patients with facial asymmetry and to objectively classify these patients into groups according to these structural characteristics. Patients with facial asymmetry and recent computed tomographic images from 2005 through 2009 were included in this study, which was approved by the institutional review board. Linear measurements, angles, and reference planes on 3-dimensional computed tomograms were obtained, including maxillary (upper midline deviation, maxilla canting, and arch form discrepancy) and mandibular (menton deviation, gonion to midsagittal plane, ramus height, and frontal ramus inclination) measurements. All measurements were analyzed using paired t tests with Bonferroni correction followed by K-means cluster analysis using SPSS 13.0 to determine an objective classification of facial asymmetry in the enrolled patients. Kruskal-Wallis test was performed to verify differences among clustered groups. P < .05 was considered statistically significant. Forty-three patients (18 male, 25 female) were included in the study. They were classified into 4 groups based on cluster analysis. Their mean age was 24.3 ± 4.4 years. Group 1 included subjects (44% of patients) with asymmetry caused by a shift or lateralization of the mandibular body. Group 2 included subjects (39%) with a significant difference between the left and right ramus height with menton deviation to the short side. Group 3 included subjects (12%) with atypical asymmetry, including deviation of the menton to the short side, prominence of the angle/gonion on the larger side, and reverse maxillary canting. Group 4 included subjects (5%) with severe maxillary canting, ramus height differences, and menton deviation to the short side. In this study, patients with asymmetry were classified into 4 statistically distinct groups according to

  7. Top-down guidance in visual search for facial expressions.

    PubMed

    Hahn, Sowon; Gronlund, Scott D

    2007-02-01

    Using a visual search paradigm, we investigated how a top-down goal modified attentional bias for threatening facial expressions. In two experiments, participants searched for a facial expression either based on stimulus characteristics or a top-down goal. In Experiment 1 participants searched for a discrepant facial expression in a homogenous crowd of faces. Consistent with previous research, we obtained a shallower response time (RT) slope when the target face was angry than when it was happy. In Experiment 2, participants searched for a specific type of facial expression (allowing a top-down goal). When the display included a target, we found a shallower RT slope for the angry than for the happy face search. However, when an angry or happy face was present in the display in opposition to the task goal, we obtained equivalent RT slopes, suggesting that the mere presence of an angry face in opposition to the task goal did not support the well-known angry face superiority effect. Furthermore, RT distribution analyses supported the special status of an angry face only when it was combined with the top-down goal. On the basis of these results, we suggest that a threatening facial expression may guide attention as a high-priority stimulus in the absence of a specific goal; however, in the presence of a specific goal, the efficiency of facial expression search is dependent on the combined influence of a top-down goal and the stimulus characteristics.

  8. Multivectored Superficial Muscular Aponeurotic System Suspension for Facial Paralysis.

    PubMed

    Leach, Garrison; Kurnik, Nicole; Joganic, Jessica; Joganic, Edward

    2017-06-01

    Facial paralysis is a devastating condition that may cause severe cosmetic and functional deformities. In this study we describe our technique for superficial muscular aponeurotic system (SMAS) suspension using barbed suture and compare the vectors of suspension in relation to the underlying musculature. This study also quantifies the improvements in postoperative symmetry using traditional anthropologic landmarks. The efficacy of this procedure for improving facial paralysis was determined by comparing anthropometric indices and using Procrustes distance between 4 groupings of homologous landmarks plotted on each patient's preoperative and postoperative photos. Geometric morphometrics was used to evaluate change in facial shape and improvement in symmetry postoperatively.To analyze the vector of suspension in relation to the underlying musculature, specific anthropologic landmarks were used to calculate the vector of the musculature in 3 facial hemispheres from cadaveric controls against the vector of repair in our patients. Ten patients were included in our study. Subjectively, great improvement in functional status was achieved. Geometric morphometric analysis demonstrated a statistically significant improvement in facial symmetry. Cadaveric dissection demonstrated that the suture should be placed in the SMAS in vectors parallel to the underlying musculature to achieve these results. There were no complications in our study to date. In conclusion, multivectored SMAS suture suspension is an effective method for restoring static suspension of the face after facial paralysis. This method has the benefit of producing quick, reliable results with improved function, low cost, and low morbidity.

  9. Automated and objective action coding of facial expressions in patients with acute facial palsy.

    PubMed

    Haase, Daniel; Minnigerode, Laura; Volk, Gerd Fabian; Denzler, Joachim; Guntinas-Lichius, Orlando

    2015-05-01

    Aim of the present observational single center study was to objectively assess facial function in patients with idiopathic facial palsy with a new computer-based system that automatically recognizes action units (AUs) defined by the Facial Action Coding System (FACS). Still photographs using posed facial expressions of 28 healthy subjects and of 299 patients with acute facial palsy were automatically analyzed for bilateral AU expression profiles. All palsies were graded with the House-Brackmann (HB) grading system and with the Stennert Index (SI). Changes of the AU profiles during follow-up were analyzed for 77 patients. The initial HB grading of all patients was 3.3 ± 1.2. SI at rest was 1.86 ± 1.3 and during motion 3.79 ± 4.3. Healthy subjects showed a significant AU asymmetry score of 21 ± 11 % and there was no significant difference to patients (p = 0.128). At initial examination of patients, the number of activated AUs was significantly lower on the paralyzed side than on the healthy side (p < 0.0001). The final examination for patients took place 4 ± 6 months post baseline. The number of activated AUs and the ratio between affected and healthy side increased significantly between baseline and final examination (both p < 0.0001). The asymmetry score decreased between baseline and final examination (p < 0.0001). The number of activated AUs on the healthy side did not change significantly (p = 0.779). Radical rethinking in facial grading is worthwhile: automated FACS delivers fast and objective global and regional data on facial motor function for use in clinical routine and clinical trials.

  10. Long-Face Dentofacial Deformities: Occlusion and Facial Esthetic Surgical Outcomes.

    PubMed

    Posnick, Jeffrey C; Liu, Samuel; Tremont, Timothy J

    2018-06-01

    The purpose of this study was to document malocclusion and facial dysmorphology in a series of patients with long face (LF) and chronic obstructive nasal breathing before treatment and the outcomes after bimaxillary orthognathic, osseous genioplasty, and intranasal surgery. A retrospective cohort study of patients with LF undergoing bimaxillary, chin, and intranasal (septoplasty and inferior turbinate reduction) surgery was implemented. Predictor variables were grouped into demographic, anatomic, operative, and longitudinal follow-up categories. Primary outcome variables were the initial postoperative occlusion achieved (T 2 ; 5 weeks after surgery) and the occulsion maintained long-term (>2 years after surgery). Six key occlusion parameters were assessed: overjet, overbite, coincidence of dental midlines, canine Angle classification, and molar vertical and transverse positions. The second outcome variable was the facial esthetic results. Photographs in 6 views were analyzed to document 7 facial contour characteristics. Seventy-eight patients met the inclusion criteria. Average age at surgery was 24 years (range, 13 to 54 yr). The study included 53 female patients (68%). Findings confirmed that occlusion after initial surgical healing (T 2 ) met the objectives for all parameters in 97% of patients (76 of 78). Most (68 of 78; 87%) maintained a favorable anterior and posterior occlusion for each parameter studied long-term (mean, 5 years 5 months). Facial contour deformities at presentation included prominent nose (63%), flat cheekbones (96%), flat midface (96%), weak chin (91%), obtuse neck-to-chin angle (56%), wide lip separation (95%), and excess maxillary dental show (99%). Correction of all pretreatment facial contour deformities was confirmed in 92% of patients after surgery. Long face patients with higher preoperative body mass index levels were more likely to have residual facial dysmorphology after surgery (P = .0009). Using orthognathic surgery

  11. A Pilot Randomized Controlled Trial of Cognitive-Behavioral Therapy for Adolescents With Body Dysmorphic Disorder.

    PubMed

    Mataix-Cols, David; Fernández de la Cruz, Lorena; Isomura, Kayoko; Anson, Martin; Turner, Cynthia; Monzani, Benedetta; Cadman, Jacinda; Bowyer, Laura; Heyman, Isobel; Veale, David; Krebs, Georgina

    2015-11-01

    Body dysmorphic disorder (BDD) typically starts in adolescence, but evidence-based treatments are yet to be developed and formally evaluated in this age group. We designed an age-appropriate cognitive-behavioral therapy (CBT) protocol for adolescents with BDD and evaluated its acceptability and efficacy in a pilot randomized controlled trial. Thirty adolescents aged 12 to 18 years (mean = 16.0, SD = 1.7) with a primary diagnosis of BDD, together with their families, were randomly assigned to 14 sessions of CBT delivered over 4 months or a control condition of equivalent duration, consisting of written psycho-education materials and weekly telephone monitoring. Blinded evaluators assessed participants at baseline, midtreatment, posttreatment, and at 2-month follow-up. The primary outcome measure was the Yale-Brown Obsessive-Compulsive Scale Modified for BDD, Adolescent Version (mean baseline score = 37.13, SD = 4.98, range = 24-43). The CBT group showed a significantly greater improvement than the control group, both at posttreatment (time × group interaction coefficient [95% CI] = -11.26 [-17.22 to -5.31]; p = .000) and at 2-month follow-up (time × group interaction coefficient [95% CI] = -9.62 [-15.74 to -3.51]; p = .002). Six participants (40%) in the CBT group and 1 participant (6.7%) in the control condition were classified as responders at both time points (χ(2) = 4.658, p = .031). Improvements were also seen on secondary measures, including insight, depression, and quality of life at posttreatment. Both patients and their families deemed the treatment as highly acceptable. Developmentally tailored CBT is a promising intervention for young people with BDD, although there is significant room for improvement. Further clinical trials incorporating lessons learned in this pilot study and comparing CBT and pharmacological therapies, as well as their combination, are warranted. Cognitive-Behaviour Therapy for Adolescents With Body Dysmorphic Disorder; http

  12. Use of Objective Metrics in Dynamic Facial Reanimation: A Systematic Review.

    PubMed

    Revenaugh, Peter C; Smith, Ryan M; Plitt, Max A; Ishii, Lisa; Boahene, Kofi; Byrne, Patrick J

    2018-06-21

    Facial nerve deficits cause significant functional and social consequences for those affected. Existing techniques for dynamic restoration of facial nerve function are imperfect and result in a wide variety of outcomes. Currently, there is no standard objective instrument for facial movement as it relates to restorative techniques. To determine what objective instruments of midface movement are used in outcome measurements for patients treated with dynamic methods for facial paralysis. Database searches from January 1970 to June 2017 were performed in PubMed, Embase, Cochrane Library, Web of Science, and Scopus. Only English-language articles on studies performed in humans were considered. The search terms used were ("Surgical Flaps"[Mesh] OR "Nerve Transfer"[Mesh] OR "nerve graft" OR "nerve grafts") AND (face [mh] OR facial paralysis [mh]) AND (innervation [sh]) OR ("Face"[Mesh] OR facial paralysis [mh]) AND (reanimation [tiab]). Two independent reviewers evaluated the titles and abstracts of all articles and included those that reported objective outcomes of a surgical technique in at least 2 patients. The presence or absence of an objective instrument for evaluating outcomes of midface reanimation. Additional outcome measures were reproducibility of the test, reporting of symmetry, measurement of multiple variables, and test validity. Of 241 articles describing dynamic facial reanimation techniques, 49 (20.3%) reported objective outcome measures for 1898 patients. Of those articles reporting objective measures, there were 29 different instruments, only 3 of which reported all outcome measures. Although instruments are available to objectively measure facial movement after reanimation techniques, most studies do not report objective outcomes. Of objective facial reanimation instruments, few are reproducible and able to measure symmetry and multiple data points. To accurately compare objective outcomes in facial reanimation, a reproducible, objective, and

  13. Forensic Facial Reconstruction: The Final Frontier.

    PubMed

    Gupta, Sonia; Gupta, Vineeta; Vij, Hitesh; Vij, Ruchieka; Tyagi, Nutan

    2015-09-01

    Forensic facial reconstruction can be used to identify unknown human remains when other techniques fail. Through this article, we attempt to review the different methods of facial reconstruction reported in literature. There are several techniques of doing facial reconstruction, which vary from two dimensional drawings to three dimensional clay models. With the advancement in 3D technology, a rapid, efficient and cost effective computerized 3D forensic facial reconstruction method has been developed which has brought down the degree of error previously encountered. There are several methods of manual facial reconstruction but the combination Manchester method has been reported to be the best and most accurate method for the positive recognition of an individual. Recognition allows the involved government agencies to make a list of suspected victims'. This list can then be narrowed down and a positive identification may be given by the more conventional method of forensic medicine. Facial reconstruction allows visual identification by the individual's family and associates to become easy and more definite.

  14. Cranio-facial clefts in pre-hispanic America.

    PubMed

    Marius-Nunez, A L; Wasiak, D T

    2015-10-01

    Among the representations of congenital malformations in Moche ceramic art, cranio-facial clefts have been portrayed in pottery found in Moche burials. These pottery vessels were used as domestic items during lifetime and funerary offerings upon death. The aim of this study was to examine archeological evidence for representations of cranio-facial cleft malformations in Moche vessels. Pottery depicting malformations of the midface in Moche collections in Lima-Peru were studied. The malformations portrayed on pottery were analyzed using the Tessier classification. Photographs were authorized by the Larco Museo.Three vessels were observed to have median cranio-facial dysraphia in association with midline cleft of the lower lip with cleft of the mandible. ML001489 portrays a median cranio-facial dysraphia with an orbital cleft and a midline cleft of the lower lip extending to the mandible. ML001514 represents a median facial dysraphia in association with an orbital facial cleft and a vertical orbital dystopia. ML001491 illustrates a median facial cleft with a soft tissue cleft. Three cases of midline, orbital and lateral facial clefts have been portrayed in Moche full-figure portrait vessels. They represent the earliest registries of congenital cranio-facial malformations in ancient Peru. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  15. Delusional versus nondelusional body dysmorphic disorder: recommendations for DSM-5

    PubMed Central

    Phillips, Katharine A.; Hart, Ashley S.; Simpson, Helen Blair; Stein, Dan J.

    2016-01-01

    The core feature of body dysmorphic disorder (BDD) is distressing or impairing preoccupation with nonexistent or slight defects in one’s physical appearance. BDD beliefs are characterized by varying degrees of insight, ranging from good (ie, recognition that one’s BDD beliefs are not true) through “absent insight/delusional” beliefs (ie, complete conviction that one’s BDD beliefs are true). The Diagnostic and Statistical Manual of Mental Disorders, 3rd ed., rev. (DSM-III-R) and The Diagnostic and Statistical Manual of Mental Disorders, 4th ed. (DSM-IV) classified BDD’s nondelusional form in the somatoform section of the manual and its delusional form in the psychosis section, as a type of delusional disorder, somatic type (although DSM-IV allowed double-coding of delusional BDD as both a psychotic disorder and BDD). However, little or no evidence on this issue was available when these editions were published. In this article, we review the classification of BDD’s delusional and nondelusional variants in earlier editions of DSM and the limitations of their approaches. We then review empirical evidence on this topic, which has become available since DSM-IV was developed. Available evidence indicates that across a range of validators, BDD’s delusional and nondelusional variants have many more similarities than differences, including response to pharmacotherapy. Based on these data, we propose that BDD’s delusional and nondelusional forms be classified as the same disorder and that BDD’s diagnostic criteria include an insight specifier that spans a range of insight, including absent insight/delusional BDD beliefs. We hope that this recommendation will improve care for patients with this common and often-severe disorder. This increased understanding of BDD may also have implications for other disorders that have an “absent insight/delusional” form. PMID:23659348

  16. Visual information processing of faces in body dysmorphic disorder.

    PubMed

    Feusner, Jamie D; Townsend, Jennifer; Bystritsky, Alexander; Bookheimer, Susan

    2007-12-01

    Body dysmorphic disorder (BDD) is a severe psychiatric condition in which individuals are preoccupied with perceived appearance defects. Clinical observation suggests that patients with BDD focus on details of their appearance at the expense of configural elements. This study examines abnormalities in visual information processing in BDD that may underlie clinical symptoms. To determine whether patients with BDD have abnormal patterns of brain activation when visually processing others' faces with high, low, or normal spatial frequency information. Case-control study. University hospital. Twelve right-handed, medication-free subjects with BDD and 13 control subjects matched by age, sex, and educational achievement. Intervention Functional magnetic resonance imaging while performing matching tasks of face stimuli. Stimuli were neutral-expression photographs of others' faces that were unaltered, altered to include only high spatial frequency visual information, or altered to include only low spatial frequency visual information. Blood oxygen level-dependent functional magnetic resonance imaging signal changes in the BDD and control groups during tasks with each stimulus type. Subjects with BDD showed greater left hemisphere activity relative to controls, particularly in lateral prefrontal cortex and lateral temporal lobe regions for all face tasks (and dorsal anterior cingulate activity for the low spatial frequency task). Controls recruited left-sided prefrontal and dorsal anterior cingulate activity only for the high spatial frequency task. Subjects with BDD demonstrate fundamental differences from controls in visually processing others' faces. The predominance of left-sided activity for low spatial frequency and normal faces suggests detail encoding and analysis rather than holistic processing, a pattern evident in controls only for high spatial frequency faces. These abnormalities may be associated with apparent perceptual distortions in patients with BDD. The

  17. Facial identity and facial expression are initially integrated at visual perceptual stages of face processing.

    PubMed

    Fisher, Katie; Towler, John; Eimer, Martin

    2016-01-08

    It is frequently assumed that facial identity and facial expression are analysed in functionally and anatomically distinct streams within the core visual face processing system. To investigate whether expression and identity interact during the visual processing of faces, we employed a sequential matching procedure where participants compared either the identity or the expression of two successively presented faces, and ignored the other irrelevant dimension. Repetitions versus changes of facial identity and expression were varied independently across trials, and event-related potentials (ERPs) were recorded during task performance. Irrelevant facial identity and irrelevant expression both interfered with performance in the expression and identity matching tasks. These symmetrical interference effects show that neither identity nor expression can be selectively ignored during face matching, and suggest that they are not processed independently. N250r components to identity repetitions that reflect identity matching mechanisms in face-selective visual cortex were delayed and attenuated when there was an expression change, demonstrating that facial expression interferes with visual identity matching. These findings provide new evidence for interactions between facial identity and expression within the core visual processing system, and question the hypothesis that these two attributes are processed independently. Copyright © 2015 Elsevier Ltd. All rights reserved.

  18. [Emotion Recognition in Patients with Peripheral Facial Paralysis - A Pilot Study].

    PubMed

    Konnerth, V; Mohr, G; von Piekartz, H

    2016-02-01

    The perception of emotions is an important component in enabling human beings to social interaction in everyday life. Thus, the ability to recognize the emotions of the other one's mime is a key prerequisite for this. The following study aimed at evaluating the ability of subjects with 'peripheral facial paresis' to perceive emotions in healthy individuals. A pilot study was conducted in which 13 people with 'peripheral facial paresis' participated. This assessment included the 'Facially Expressed Emotion Labeling-Test' (FEEL-Test), the 'Facial-Laterality-Recognition Test' (FLR-Test) and the 'Toronto-Alexithymie-Scale 26' (TAS 26). The results were compared with data of healthy people from other studies. In contrast to healthy patients, the subjects with 'facial paresis' show more difficulties in recognizing basic emotions; however the results are not significant. The participants show a significant lower level of speed (right/left: p<0.001) concerning the perception of facial laterality compared to healthy people. With regard to the alexithymia, the tested group reveals significantly higher results (p<0.001) compared to the unimpaired people. The present pilot study does not prove any impact on this specific patient group's ability to recognize emotions and facial laterality. For future studies the research question should be verified in a larger sample size. © Georg Thieme Verlag KG Stuttgart · New York.

  19. Recognition of computerized facial approximations by familiar assessors.

    PubMed

    Richard, Adam H; Monson, Keith L

    2017-11-01

    Studies testing the effectiveness of facial approximations typically involve groups of participants who are unfamiliar with the approximated individual(s). This limitation requires the use of photograph arrays including a picture of the subject for comparison to the facial approximation. While this practice is often necessary due to the difficulty in obtaining a group of assessors who are familiar with the approximated subject, it may not accurately simulate the thought process of the target audience (friends and family members) in comparing a mental image of the approximated subject to the facial approximation. As part of a larger process to evaluate the effectiveness and best implementation of the ReFace facial approximation software program, the rare opportunity arose to conduct a recognition study using assessors who were personally acquainted with the subjects of the approximations. ReFace facial approximations were generated based on preexisting medical scans, and co-workers of the scan donors were tested on whether they could accurately pick out the approximation of their colleague from arrays of facial approximations. Results from the study demonstrated an overall poor recognition performance (i.e., where a single choice within a pool is not enforced) for individuals who were familiar with the approximated subjects. Out of 220 recognition tests only 10.5% resulted in the assessor selecting the correct approximation (or correctly choosing not to make a selection when the array consisted only of foils), an outcome that was not significantly different from the 9% random chance rate. When allowed to select multiple approximations the assessors felt resembled the target individual, the overall sensitivity for ReFace approximations was 16.0% and the overall specificity was 81.8%. These results differ markedly from the results of a previous study using assessors who were unfamiliar with the approximated subjects. Some possible explanations for this disparity in

  20. Rapid Facial Reactions to Emotional Facial Expressions in Typically Developing Children and Children with Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Beall, Paula M.; Moody, Eric J.; McIntosh, Daniel N.; Hepburn, Susan L.; Reed, Catherine L.

    2008-01-01

    Typical adults mimic facial expressions within 1000ms, but adults with autism spectrum disorder (ASD) do not. These rapid facial reactions (RFRs) are associated with the development of social-emotional abilities. Such interpersonal matching may be caused by motor mirroring or emotional responses. Using facial electromyography (EMG), this study…

  1. An Assessment of How Facial Mimicry Can Change Facial Morphology: Implications for Identification.

    PubMed

    Gibelli, Daniele; De Angelis, Danilo; Poppa, Pasquale; Sforza, Chiarella; Cattaneo, Cristina

    2017-03-01

    The assessment of facial mimicry is important in forensic anthropology; in addition, the application of modern 3D image acquisition systems may help for the analysis of facial surfaces. This study aimed at exposing a novel method for comparing 3D profiles in different facial expressions. Ten male adults, aged between 30 and 40 years, underwent acquisitions by stereophotogrammetry (VECTRA-3D ® ) with different expressions (neutral, happy, sad, angry, surprised). The acquisition of each individual was then superimposed on the neutral one according to nine landmarks, and the root mean square (RMS) value between the two expressions was calculated. The highest difference in comparison with the neutral standard was shown by the happy expression (RMS 4.11 mm), followed by the surprised (RMS 2.74 mm), sad (RMS 1.3 mm), and angry ones (RMS 1.21 mm). This pilot study shows that the 3D-3D superimposition may provide reliable results concerning facial alteration due to mimicry. © 2016 American Academy of Forensic Sciences.

  2. Acneiform facial eruptions

    PubMed Central

    Cheung, Melody J.; Taher, Muba; Lauzon, Gilles J.

    2005-01-01

    OBJECTIVE To summarize clinical recognition and current management strategies for four types of acneiform facial eruptions common in young women: acne vulgaris, rosacea, folliculitis, and perioral dermatitis. QUALITY OF EVIDENCE Many randomized controlled trials (level I evidence) have studied treatments for acne vulgaris over the years. Treatment recommendations for rosacea, folliculitis, and perioral dermatitis are based predominantly on comparison and open-label studies (level II evidence) as well as expert opinion and consensus statements (level III evidence). MAIN MESSAGE Young women with acneiform facial eruptions often present in primary care. Differentiating between morphologically similar conditions is often difficult. Accurate diagnosis is important because treatment approaches are different for each disease. CONCLUSION Careful visual assessment with an appreciation for subtle morphologic differences and associated clinical factors will help with diagnosis of these common acneiform facial eruptions and lead to appropriate management. PMID:15856972

  3. Patient reported facial scar assessment: directions for the professional.

    PubMed

    Hoogewerf, Cornelis J; van Baar, Margriet E; Middelkoop, Esther; van Loey, Nancy E

    2014-03-01

    The face is central to our identity and provides our most expressive means of communication. Currently, the role of facial scarring in relation to self-esteem is unclear and the value of self-reported scar assessment is insufficiently understood. The aim of this study was twofold: (1) to assess the extent of agreement between patients' ratings and observers' ratings of facial scar characteristics; and (2) to examine if patients' and observers' scar characteristics ratings, or the differences, are associated with the patients' self-esteem. A prospective study was conducted including patients with facial burns. Patients completed the Patient and Observer Scar Assessment Scale (POSAS) and the Rosenberg Self-Esteem Scale 3 months post-burn. Ninety-four subjects were included, 76 (81%) men and mean percentage TBSA burned was 12.4 (SD 10.4; range 1-50). Subject's and observer's assessment were significantly positively correlated and were identical in 53% of the cases. Subjects' assessments and discrepancy scores on the scar characteristic surface roughness were associated with self-esteem in multiple regression analysis. The majority of the patients scored the quality of facial scars in a similar way as the professionals. Furthermore, facial scarring appeared only moderately associated with self-esteem. However, our study suggests that using both patients' and professionals' scar assessments provides more useful information regarding the patients' well-being relative to focussing on the separate assessments only. In particular a discrepancy between the patients' and professionals' view on surface roughness might be an early indication of psychological difficulties and a call for further clinical attention. Copyright © 2013 Elsevier Ltd and ISBI. All rights reserved.

  4. Analysis of the efficacy of marketing tools in facial plastic surgery.

    PubMed

    Zavod, Matthew B; Adamson, Peter A

    2008-06-01

    To compare referral sources to a facial plastic surgery practice and to develop models correlating the referral source with the decision for surgery. Retrospective descriptive study. Well-established, metropolitan, private facial plastic surgery practice with training fellowship affiliated with an academic centre. One-thousand eighty-nine new consecutive patients presenting between January 2001 and December 2005 recorded intake data including age, gender, and chief complaint. Final data input was their decision for or against surgery. Main outcome measures included differences in referral sources based on data collected and how those sources related to decision for surgery. A 50% conversion rate was found. Women and older patients were more likely to be referred from magazines, television, and newspapers and for facial rejuvenation. Men and younger patients were more likely to be referred from the website and for rhinoplasty. For facial rejuvenation, both the number of patients interested in and the probability that they agreed to the procedure increased with age. For rhinoplasty, the converse was true. The most likely patients to schedule surgery were those who were referred from other patients, friends, or family members in our practice. The data confirm that word-of-mouth referrals are the most important source for predicting which patients will elect to proceed with surgery in this established facial cosmetic surgery practice.

  5. Putative golden proportions as predictors of facial esthetics in adolescents.

    PubMed

    Kiekens, Rosemie M A; Kuijpers-Jagtman, Anne Marie; van 't Hof, Martin A; van 't Hof, Bep E; Maltha, Jaap C

    2008-10-01

    In orthodontics, facial esthetics is assumed to be related to golden proportions apparent in the ideal human face. The aim of the study was to analyze the putative relationship between facial esthetics and golden proportions in white adolescents. Seventy-six adult laypeople evaluated sets of photographs of 64 adolescents on a visual analog scale (VAS) from 0 to 100. The facial esthetic value of each subject was calculated as a mean VAS score. Three observers recorded the position of 13 facial landmarks included in 19 putative golden proportions, based on the golden proportions as defined by Ricketts. The proportions and each proportion's deviation from the golden target (1.618) were calculated. This deviation was then related to the VAS scores. Only 4 of the 19 proportions had a significant negative correlation with the VAS scores, indicating that beautiful faces showed less deviation from the golden standard than less beautiful faces. Together, these variables explained only 16% of the variance. Few golden proportions have a significant relationship with facial esthetics in adolescents. The explained variance of these variables is too small to be of clinical importance.

  6. Infectious complications of Bio-Alcamid filler used for HIV-related facial lipoatrophy.

    PubMed

    Nadarajah, Jeya T; Collins, Micaela; Raboud, Janet; Su, DeSheng; Rao, Kavya; Loutfy, Mona R; Walmsley, Sharon

    2012-12-01

    Human immunodeficiency virus (HIV)-related facial lipoatrophy is a devastating adverse effect of antiretroviral therapy. At this time, the most viable treatment option is cosmetic surgery with synthetic fillers. Bio-Alcamid has many advantages over other fillers, and has become widely used. The objective of this study was to determine the incidence rate of infectious complications associated with Bio-Alcamid facial filler in patients with HIV-related facial lipoatrophy (FLA). This retrospective study identified patients who had received treatment with Bio-Alcamid, and reviewed their long-term outcomes. Two hundred sixty-seven patients with Bio-Alcamid were reviewed. Infectious complications were documented in 56 (19%) patients. The incidence rate of infection was 0.07 per patient-year of follow-up. Among patients with infections, the median time from first Bio-Alcamid treatment to infection was 32 months (interquartile range, 21-42). We did not find an association between the development of infection and the level of immune suppression by HIV. Surgical drainage in addition to antibiotics was required for the majority of patients. Potential risk factors for infection include severity of FLA and a preceding history of facial manipulation, including Bio-Alcamid touch-up treatments, cosmetic surgery, facial trauma, and dental work. Bio-Alcamid treatment of HIV-related FLA was associated with a high rate of infectious complications, often presenting years after treatment. Antibiotic prophylaxis should be considered in patients with Bio-Alcamid prior to dental work or facial manipulation.

  7. 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.

  8. Non-Cooperative Facial Recognition Video Dataset Collection Plan

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

    Kimura, Marcia L.; Erikson, Rebecca L.; Lombardo, Nicholas J.

    The Pacific Northwest National Laboratory (PNNL) will produce a non-cooperative (i.e. not posing for the camera) facial recognition video data set for research purposes to evaluate and enhance facial recognition systems technology. The aggregate data set consists of 1) videos capturing PNNL role players and public volunteers in three key operational settings, 2) photographs of the role players for enrolling in an evaluation database, and 3) ground truth data that documents when the role player is within various camera fields of view. PNNL will deliver the aggregate data set to DHS who may then choose to make it available tomore » other government agencies interested in evaluating and enhancing facial recognition systems. The three operational settings that will be the focus of the video collection effort include: 1) unidirectional crowd flow 2) bi-directional crowd flow, and 3) linear and/or serpentine queues.« less

  9. Body Dysmorphic, Obsessive-Compulsive, and Social Anxiety Disorder Beliefs as Predictors of In Vivo Stressor Responding.

    PubMed

    Parsons, E Marie; Straub, Kelsey T; Smith, April R; Clerkin, Elise M

    2017-06-01

    This study tested the potential transdiagnostic nature of body dysmorphic disorder (BDD), obsessive-compulsive disorder (OCD), and social anxiety disorder (SAD) beliefs, in addition to testing the specificity of those beliefs, in predicting how individuals responded to symptom-specific stressors. Participants included 127 adults (75% women) with a broad range of symptom severity. Path analysis was used to evaluate whether specific maladaptive beliefs predicted distress in response to symptom-relevant stressors over and above other beliefs and baseline distress. SAD beliefs emerged as a significant predictor of distress in response to a mirror gazing (BDD-relevant), a thought (OCD-relevant), and a public speaking (SAD-relevant) task, controlling for other disorder beliefs and baseline distress. BDD beliefs were also a robust predictor of BDD stressor responding. Results suggest that social anxiety-relevant beliefs may function as a transdiagnostic risk factor that predicts in vivo symptoms across a range of problem areas.

  10. Facial Specialty. Teacher Edition. Cosmetology Series.

    ERIC Educational Resources Information Center

    Oklahoma State Dept. of Vocational and Technical Education, Stillwater. Curriculum and Instructional Materials Center.

    This publication is one of a series of curriculum guides designed to direct and support instruction in vocational cosmetology programs in the State of Oklahoma. It contains seven units for the facial specialty: identifying enemies of the skin, using aromatherapy on the skin, giving facials without the aid of machines, giving facials with the aid…

  11. Facial Recognition in a Discus Fish (Cichlidae): Experimental Approach Using Digital Models.

    PubMed

    Satoh, Shun; Tanaka, Hirokazu; Kohda, Masanori

    2016-01-01

    A number of mammals and birds are known to be capable of visually discriminating between familiar and unfamiliar individuals, depending on facial patterns in some species. Many fish also visually recognize other conspecifics individually, and previous studies report that facial color patterns can be an initial signal for individual recognition. For example, a cichlid fish and a damselfish will use individual-specific color patterns that develop only in the facial area. However, it remains to be determined whether the facial area is an especially favorable site for visual signals in fish, and if so why? The monogamous discus fish, Symphysopdon aequifasciatus (Cichlidae), is capable of visually distinguishing its pair-partner from other conspecifics. Discus fish have individual-specific coloration patterns on entire body including the facial area, frontal head, trunk and vertical fins. If the facial area is an inherently important site for the visual cues, this species will use facial patterns for individual recognition, but otherwise they will use patterns on other body parts as well. We used modified digital models to examine whether discus fish use only facial coloration for individual recognition. Digital models of four different combinations of familiar and unfamiliar fish faces and bodies were displayed in frontal and lateral views. Focal fish frequently performed partner-specific displays towards partner-face models, and did aggressive displays towards models of non-partner's faces. We conclude that to identify individuals this fish does not depend on frontal color patterns but does on lateral facial color patterns, although they have unique color patterns on the other parts of body. We discuss the significance of facial coloration for individual recognition in fish compared with birds and mammals.

  12. 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

  13. Cryptorchidism due to chromosome 5q inversion duplication.

    PubMed

    Dutta, M K; Gundgurthi, A; Garg, M K; Pakhetr, R

    2013-12-01

    We present a 15 year old boy who was born out of a non consanguineous marriage, and presented with bilateral cryptorchidism, mental retardation, facial dysmorphism, hypergonadotrophic hypogonadism with failure of anatomical and biochemical localisation of testes. Karyotype analysis showed 46 XY with inverted duplication on chromosome 5q22-31.

  14. Neural mechanism for judging the appropriateness of facial affect.

    PubMed

    Kim, Ji-Woong; Kim, Jae-Jin; Jeong, Bum Seok; Ki, Seon Wan; Im, Dong-Mi; Lee, Soo Jung; Lee, Hong Shick

    2005-12-01

    Questions regarding the appropriateness of facial expressions in particular situations arise ubiquitously in everyday social interactions. To determine the appropriateness of facial affect, first of all, we should represent our own or the other's emotional state as induced by the social situation. Then, based on these representations, we should infer the possible affective response of the other person. In this study, we identified the brain mechanism mediating special types of social evaluative judgments of facial affect in which the internal reference is related to theory of mind (ToM) processing. Many previous ToM studies have used non-emotional stimuli, but, because so much valuable social information is conveyed through nonverbal emotional channels, this investigation used emotionally salient visual materials to tap ToM. Fourteen right-handed healthy subjects volunteered for our study. We used functional magnetic resonance imaging to examine brain activation during the judgmental task for the appropriateness of facial affects as opposed to gender matching tasks. We identified activation of a brain network, which includes both medial frontal cortex, left temporal pole, left inferior frontal gyrus, and left thalamus during the judgmental task for appropriateness of facial affect compared to the gender matching task. The results of this study suggest that the brain system involved in ToM plays a key role in judging the appropriateness of facial affect in an emotionally laden situation. In addition, our result supports that common neural substrates are involved in performing diverse kinds of ToM tasks irrespective of perceptual modalities and the emotional salience of test materials.

  15. 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.

  16. Perceptual and cognitive biases in individuals with body dysmorphic disorder symptoms.

    PubMed

    Clerkin, Elise M; Teachman, Bethany A

    2008-01-01

    Given the extreme focus on perceived physical defects in body dysmorphic disorder (BDD), we expected that perceptual and cognitive biases related to physical appearance would be associated with BDD symptomology. To examine these hypotheses, participants ( N = 70) high and low in BDD symptoms completed tasks assessing visual perception and cognition. As expected, there were significant group differences in self-, but not other-, relevant cognitive biases. Perceptual bias results were mixed, with some evidence indicating that individuals high (versus low) in BDD symptoms literally see themselves in a less positive light. Further, individuals high in BDD symptoms failed to demonstrate a normative self-enhancement bias. Overall, this research points to the importance of assessing both cognitive and perceptual biases associated with BDD symptoms, and suggests that visual perception may be influenced by non-visual factors.

  17. 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.

  18. [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.

  19. Improving posttraumatic facial scars.

    PubMed

    Ardeshirpour, Farhad; Shaye, David A; Hilger, Peter A

    2013-10-01

    Posttraumatic soft-tissue injuries of the face are often the most lasting sequelae of facial trauma. The disfigurement of posttraumatic scarring lies in both their physical deformity and psychosocial ramifications. This review outlines a variety of techniques to improve facial scars and limit their lasting effects. Copyright © 2013 Elsevier Inc. All rights reserved.

  20. Women's facial attractiveness is related to their body mass index but not their salivary cortisol.

    PubMed

    Han, Chengyang; Hahn, Amanda C; Fisher, Claire I; Debruine, Lisa M; Jones, Benedict C

    2016-05-01

    Although many theories of human facial attractiveness propose positive correlations between facial attractiveness and measures of actual health, evidence for such correlations is somewhat mixed. Here we sought to replicate a recent study reporting that women's facial attractiveness is independently related to both their adiposity and cortisol. Ninety-six women provided saliva samples, which were analyzed for cortisol level, and their height and weight, which were used to calculate their body mass index (BMI). A digital face image of each woman was also taken under standardized photographic conditions and rated for attractiveness. There was a significant negative correlation between women's facial attractiveness and BMI. By contrast, salivary cortisol and facial attractiveness were not significantly correlated. Our results suggest that the types of health information reflected in women's faces include qualities that are indexed by BMI but do not necessarily include qualities that are indexed by cortisol. Am. J. Hum. Biol. 28:352-355, 2016. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

  1. Facial Animations: Future Research Directions & Challenges

    NASA Astrophysics Data System (ADS)

    Alkawaz, Mohammed Hazim; Mohamad, Dzulkifli; Rehman, Amjad; Basori, Ahmad Hoirul

    2014-06-01

    Nowadays, computer facial animation is used in a significant multitude fields that brought human and social to study the computer games, films and interactive multimedia reality growth. Authoring the computer facial animation, complex and subtle expressions are challenging and fraught with problems. As a result, the current most authored using universal computer animation techniques often limit the production quality and quantity of facial animation. With the supplement of computer power, facial appreciative, software sophistication and new face-centric methods emerging are immature in nature. Therefore, this paper concentrates to define and managerially categorize current and emerged surveyed facial animation experts to define the recent state of the field, observed bottlenecks and developing techniques. This paper further presents a real-time simulation model of human worry and howling with detail discussion about their astonish, sorrow, annoyance and panic perception.

  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. Facial animation on an anatomy-based hierarchical face model

    NASA Astrophysics Data System (ADS)

    Zhang, Yu; Prakash, Edmond C.; Sung, Eric

    2003-04-01

    In this paper we propose a new hierarchical 3D facial model based on anatomical knowledge that provides high fidelity for realistic facial expression animation. Like real human face, the facial model has a hierarchical biomechanical structure, incorporating a physically-based approximation to facial skin tissue, a set of anatomically-motivated facial muscle actuators and underlying skull structure. The deformable skin model has multi-layer structure to approximate different types of soft tissue. It takes into account the nonlinear stress-strain relationship of the skin and the fact that soft tissue is almost incompressible. Different types of muscle models have been developed to simulate distribution of the muscle force on the skin due to muscle contraction. By the presence of the skull model, our facial model takes advantage of both more accurate facial deformation and the consideration of facial anatomy during the interactive definition of facial muscles. Under the muscular force, the deformation of the facial skin is evaluated using numerical integration of the governing dynamic equations. The dynamic facial animation algorithm runs at interactive rate with flexible and realistic facial expressions to be generated.

  4. The identification of unfolding facial expressions.

    PubMed

    Fiorentini, Chiara; Schmidt, Susanna; Viviani, Paolo

    2012-01-01

    We asked whether the identification of emotional facial expressions (FEs) involves the simultaneous perception of the facial configuration or the detection of emotion-specific diagnostic cues. We recorded at high speed (500 frames s-1) the unfolding of the FE in five actors, each expressing six emotions (anger, surprise, happiness, disgust, fear, sadness). Recordings were coded every 10 frames (20 ms of real time) with the Facial Action Coding System (FACS, Ekman et al 2002, Salt Lake City, UT: Research Nexus eBook) to identify the facial actions contributing to each expression, and their intensity changes over time. Recordings were shown in slow motion (1/20 of recording speed) to one hundred observers in a forced-choice identification task. Participants were asked to identify the emotion during the presentation as soon as they felt confident to do so. Responses were recorded along with the associated response times (RTs). The RT probability density functions for both correct and incorrect responses were correlated with the facial activity during the presentation. There were systematic correlations between facial activities, response probabilities, and RT peaks, and significant differences in RT distributions for correct and incorrect answers. The results show that a reliable response is possible long before the full FE configuration is reached. This suggests that identification is reached by integrating in time individual diagnostic facial actions, and does not require perceiving the full apex configuration.

  5. Prevalence of Body Dysmorphic Disorder Symptoms and Body Weight Concerns in Patients Seeking Abdominoplasty.

    PubMed

    Brito, Maria José Azevedo de; Nahas, Fábio Xerfan; Cordás, Táki Athanássios; Gama, Maria Gabriela; Sucupira, Eduardo Rodrigues; Ramos, Tatiana Dalpasquale; Felix, Gabriel de Almeida Arruda; Ferreira, Lydia Masako

    2016-03-01

    Body dysmorphic disorder (BDD) is one of the most common psychiatric conditions found in patients seeking cosmetic surgery, and body contouring surgery is most frequently sought by patients with BDD. To estimate the prevalence and severity of BDD symptoms in patients seeking abdominoplasty. Ninety patients of both sexes were preoperatively divided into two groups: patients with BDD symptoms (n = 51) and those without BDD symptoms (n = 39) based both on the Body Dysmorphic Disorder Examination (BDDE) and clinical assessment. Patients in the BDD group were classified as having mild to moderate or severe symptoms, according to the BDDE. Body weight and shape concerns were assessed using the Body Shape Questionnaire (BSQ). The prevalence of BDD symptoms was 57%. There were significant associations between BDD symptoms and degree of body dissatisfaction, level of preoccupation with physical appearance, and avoidance behaviors. Mild to moderate and severe symptoms of BDD were present in 41% and 59% of patients, respectively, in the BDD group. It was found that the more severe the symptoms of BDD, the higher the level of concern with body weight and shape (P < .001). Patients having distorted self-perception of body shape, or distorted comparative perception of body image were respectively 3.67 or 5.93 times more likely to show more severe symptoms of BDD than those with a more accurate perception. Candidates for abdominoplasty had a high prevalence of BDD symptoms, and body weight and shape concerns were associated with increased symptom severity. © 2016 The American Society for Aesthetic Plastic Surgery, Inc. Reprints and permission: journals.permissions@oup.com.

  6. Facial nerve palsy: analysis of cases reported in children in a suburban hospital in Nigeria.

    PubMed

    Folayan, M O; Arobieke, R I; Eziyi, E; Oyetola, E O; Elusiyan, J

    2014-01-01

    The study describes the epidemiology, treatment, and treatment outcomes of the 10 cases of facial nerve palsy seen in children managed at the Obafemi Awolowo University Teaching Hospitals Complex, Ile-Ife over a 10 year period. It also compares findings with report from developed countries. This was a retrospective cohort review of pediatric cases of facial nerve palsy encountered in all the clinics run by specialists in the above named hospital. A diagnosis of facial palsy was based on International Classification of Diseases, Ninth Revision, Clinical Modification codes. Information retrieved from the case note included sex, age, number of days with lesion prior to presentation in the clinic, diagnosis, treatment, treatment outcome, and referral clinic. Only 10 cases of facial nerve palsy were diagnosed in the institution during the study period. Prevalence of facial nerve palsy in this hospital was 0.01%. The lesion more commonly affected males and the right side of the face. All cases were associated with infections: Mainly mumps (70% of cases). Case management include the use of steroids and eye pads for cases that presented within 7 days; and steroids, eye pad, and physical therapy for cases that presented later. All cases of facial nerve palsy associated with mumps and malaria infection fully recovered. The two cases of facial nerve palsy associated with otitis media only partially recovered. Facial nerve palsy in pediatric patients is more commonly associated with mumps in the study environment. Successes are recorded with steroid therapy.

  7. 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

  8. Reconstruction of facial nerve after radical parotidectomy.

    PubMed

    Renkonen, Suvi; Sayed, Farid; Keski-Säntti, Harri; Ylä-Kotola, Tuija; Bäck, Leif; Suominen, Sinikka; Kanerva, Mervi; Mäkitie, Antti A

    2015-01-01

    Most patients benefitted from immediate facial nerve grafting after radical parotidectomy. Even weak movement is valuable and can be augmented with secondary static operations. Post-operative radiotherapy does not seem to affect the final outcome of facial function. During radical parotidectomy, the sacrifice of the facial nerve results in severe disfigurement of the face. Data on the principles and outcome of facial nerve reconstruction and reanimation after radical parotidectomy are limited and no consensus exists on the best practice. This study retrospectively reviewed all patients having undergone radical parotidectomy and immediate facial nerve reconstruction with a free, non-vascularized nerve graft at the Helsinki University Hospital, Helsinki, Finland during the years 1990-2010. There were 31 patients (18 male; mean age = 54.7 years; range = 30-82) and 23 of them had a sufficient follow-up time. Facial nerve function recovery was seen in 18 (78%) of the 23 patients with a minimum of 2-year follow-up and adequate reporting available. Only slight facial movement was observed in five (22%), moderate or good movement in nine (39%), and excellent movement in four (17%) patients. Twenty-two (74%) patients received post-operative radiotherapy and 16 (70%) of them had some recovery of facial nerve function. Nineteen (61%) patients needed secondary static reanimation of the face.

  9. 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

  10. 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.

  11. How to Avoid Facial Nerve Injury in Mastoidectomy?

    PubMed Central

    Ryu, Nam-Gyu

    2016-01-01

    Unexpected iatrogenic facial nerve paralysis not only affects facial disfiguration, but also imposes a devastating effect on the social, psychological, and economic aspects of an affected person's life at once. The aims of this study were to postulate where surgeons had mistakenly drilled or where obscured by granulations or by fibrous bands and to look for surgical approach with focused on the safety of facial nerve in mastoid surgery. We had found 14 cases of iatrogenic facial nerve injury (IFNI) during mastoid surgery for 5 years in Korea. The medical records of all the patients were obtained and analyzed injured site of facial nerve segment with surgical technique of mastoidectomy. Eleven patients underwent facial nerve exploration and three patients had conservative management. 43% (6 cases) of iatrogenic facial nerve injuries had occurred in tympanic segment, 28.5% (4 cases) of injuries in second genu combined with tympanic segment, and 28.5% (4 cases) of injuries in mastoid segment. Surgeons should try to identify the facial nerve using available landmarks and be kept in mind the anomalies of the facial nerve. With use of intraoperative facial nerve monitoring, the avoidance of in order to avoid IFNI would be possible in more cases. Many authors emphasized the importance of intraoperative facial nerve monitoring, even in primary otologic surgery. However, anatomical understanding of intratemporal landmarks with meticulous dissection could not be emphasized as possible to prevent IFNI. PMID:27626078

  12. Preservation of Facial Nerve Function Repaired by Using Fibrin Glue-Coated Collagen Fleece for a Totally Transected Facial Nerve during Vestibular Schwannoma Surgery

    PubMed Central

    Choi, Kyung-Sik; Kim, Min-Su; Jang, Sung-Ho

    2014-01-01

    Recently, the increasing rates of facial nerve preservation after vestibular schwannoma (VS) surgery have been achieved. However, the management of a partially or completely damaged facial nerve remains an important issue. The authors report a patient who was had a good recovery after a facial nerve reconstruction using fibrin glue-coated collagen fleece for a totally transected facial nerve during VS surgery. And, we verifed the anatomical preservation and functional outcome of the facial nerve with postoperative diffusion tensor (DT) imaging facial nerve tractography, electroneurography (ENoG) and House-Brackmann (HB) grade. DT imaging tractography at the 3rd postoperative day revealed preservation of facial nerve. And facial nerve degeneration ratio was 94.1% at 7th postoperative day ENoG. At postoperative 3 months and 1 year follow-up examination with DT imaging facial nerve tractography and ENoG, good results for facial nerve function were observed. PMID:25024825

  13. Measurement of facial movements with Photoshop software during treatment of facial nerve palsy.

    PubMed

    Pourmomeny, Abbas Ali; Zadmehr, Hassan; Hossaini, Mohsen

    2011-10-01

    Evaluating the function of facial nerve is essential in order to determine the influences of various treatment methods. The aim of this study was to evaluate and assess the agreement of Photoshop scaling system versus the facial grading system (FGS). In this semi-experimental study, thirty subjects with facial nerve paralysis were recruited. The evaluation of all patients before and after the treatment was performed by FGS and Photoshop measurements. The mean values of FGS before and after the treatment were 35 ± 25 and 67 ± 24, respectively (p < 0.001). In Photoshop assessment, mean changes of face expressions in the impaired side relative to the normal side in rest position and three main movements of the face were 3.4 ± 0.55 and 4.04 ± 0.49 millimeter before and after the treatment, respectively (p < 0.001). Spearman's correlation coefficient between different values in the two methods was 0.66 (p < 0.001). Evaluating the facial nerve palsy using Photoshop was more objective than using FGS. Therefore, it may be recommended to use this method instead.

  14. Facial nerve paralysis associated with temporal bone masses.

    PubMed

    Nishijima, Hironobu; Kondo, Kenji; Kagoya, Ryoji; Iwamura, Hitoshi; Yasuhara, Kazuo; Yamasoba, Tatsuya

    2017-10-01

    To investigate the clinical and electrophysiological features of facial nerve paralysis (FNP) due to benign temporal bone masses (TBMs) and elucidate its differences as compared with Bell's palsy. FNP assessed by the House-Brackmann (HB) grading system and by electroneurography (ENoG) were compared retrospectively. We reviewed 914 patient records and identified 31 patients with FNP due to benign TBMs. Moderate FNP (HB Grades II-IV) was dominant for facial nerve schwannoma (FNS) (n=15), whereas severe FNP (Grades V and VI) was dominant for cholesteatomas (n=8) and hemangiomas (n=3). The average ENoG value was 19.8% for FNS, 15.6% for cholesteatoma, and 0% for hemangioma. Analysis of the correlation between HB grade and ENoG value for FNP due to TBMs and Bell's palsy revealed that given the same ENoG value, the corresponding HB grade was better for FNS, followed by cholesteatoma, and worst in Bell's palsy. Facial nerve damage caused by benign TBMs could depend on the underlying pathology. Facial movement and ENoG values did not correlate when comparing TBMs and Bell's palsy. When the HB grade is found to be unexpectedly better than the ENoG value, TBMs should be included in the differential diagnosis. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. Facial Recognition in a Discus Fish (Cichlidae): Experimental Approach Using Digital Models

    PubMed Central

    Satoh, Shun; Tanaka, Hirokazu; Kohda, Masanori

    2016-01-01

    A number of mammals and birds are known to be capable of visually discriminating between familiar and unfamiliar individuals, depending on facial patterns in some species. Many fish also visually recognize other conspecifics individually, and previous studies report that facial color patterns can be an initial signal for individual recognition. For example, a cichlid fish and a damselfish will use individual-specific color patterns that develop only in the facial area. However, it remains to be determined whether the facial area is an especially favorable site for visual signals in fish, and if so why? The monogamous discus fish, Symphysopdon aequifasciatus (Cichlidae), is capable of visually distinguishing its pair-partner from other conspecifics. Discus fish have individual-specific coloration patterns on entire body including the facial area, frontal head, trunk and vertical fins. If the facial area is an inherently important site for the visual cues, this species will use facial patterns for individual recognition, but otherwise they will use patterns on other body parts as well. We used modified digital models to examine whether discus fish use only facial coloration for individual recognition. Digital models of four different combinations of familiar and unfamiliar fish faces and bodies were displayed in frontal and lateral views. Focal fish frequently performed partner-specific displays towards partner-face models, and did aggressive displays towards models of non-partner’s faces. We conclude that to identify individuals this fish does not depend on frontal color patterns but does on lateral facial color patterns, although they have unique color patterns on the other parts of body. We discuss the significance of facial coloration for individual recognition in fish compared with birds and mammals. PMID:27191162

  16. Face Processing in Children with Autism Spectrum Disorder: Independent or Interactive Processing of Facial Identity and Facial Expression?

    ERIC Educational Resources Information Center

    Krebs, Julia F.; Biswas, Ajanta; Pascalis, Olivier; Kamp-Becker, Inge; Remschmidt, Helmuth; Schwarzer, Gudrun

    2011-01-01

    The current study investigated if deficits in processing emotional expression affect facial identity processing and vice versa in children with autism spectrum disorder. Children with autism and IQ and age matched typically developing children classified faces either by emotional expression, thereby ignoring facial identity or by facial identity…

  17. Fractional CO2 laser resurfacing of photoaged facial and non-facial skin: histologic and clinical results and side effects.

    PubMed

    Sasaki, Gordon H; Travis, Heather M; Tucker, Barbara

    2009-12-01

    CO(2) fractional ablation offers the potential for facial and non-facial skin resurfacing with minimal downtime and rapid recovery. The purpose of this study was (i) to document the average depths and density of adnexal structures in non-lasered facial and non-facial body skin; (ii) to determine injury in ex vivo human thigh skin with varying fractional laser modes; and (iii) to evaluate the clinical safety and efficacy of treatments. Histologies were obtained from non-lasered facial and non-facial skin from 121 patients and from 14 samples of excised lasered thigh skin. Seventy-one patients were evaluated after varying energy (mJ) and density settings by superficial ablation, deeper penetration, and combined treatment. Skin thickness and adnexal density in non-lasered skin exhibited variable ranges: epidermis (47-105 mum); papillary dermis (61-105 mum); reticular dermis (983-1986 mum); hair follicles (2-14/ HPF); sebaceous glands (2-23/HPF); sweat glands (2-7/HPF). Histological studies of samples from human thigh skin demonstrated that increased fluencies in the superficial, deep and combined mode resulted in predictable deeper levels of ablations and thermal injury. An increase in density settings results in total ablation of the epidermis. Clinical improvement of rhytids and pigmentations in facial and non-facial skin was proportional to increasing energy and density settings. Patient assessments and clinical gradings by the Wilcoxon's test of outcomes correlated with more aggressive settings. Prior knowledge of normal skin depths and adnexal densities, as well as ex vivo skin laser-injury profiles at varying fluencies and densities, improve the safety and efficiency of fractional CO(2) for photorejuvenation of facial and non-facial skin.

  18. 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.

  19. Role of temporal processing stages by inferior temporal neurons in facial recognition.

    PubMed

    Sugase-Miyamoto, Yasuko; Matsumoto, Narihisa; Kawano, Kenji

    2011-01-01

    In this review, we focus on the role of temporal stages of encoded facial information in the visual system, which might enable the efficient determination of species, identity, and expression. Facial recognition is an important function of our brain and is known to be processed in the ventral visual pathway, where visual signals are processed through areas V1, V2, V4, and the inferior temporal (IT) cortex. In the IT cortex, neurons show selective responses to complex visual images such as faces, and at each stage along the pathway the stimulus selectivity of the neural responses becomes sharper, particularly in the later portion of the responses. In the IT cortex of the monkey, facial information is represented by different temporal stages of neural responses, as shown in our previous study: the initial transient response of face-responsive neurons represents information about global categories, i.e., human vs. monkey vs. simple shapes, whilst the later portion of these responses represents information about detailed facial categories, i.e., expression and/or identity. This suggests that the temporal stages of the neuronal firing pattern play an important role in the coding of visual stimuli, including faces. This type of coding may be a plausible mechanism underlying the temporal dynamics of recognition, including the process of detection/categorization followed by the identification of objects. Recent single-unit studies in monkeys have also provided evidence consistent with the important role of the temporal stages of encoded facial information. For example, view-invariant facial identity information is represented in the response at a later period within a region of face-selective neurons. Consistent with these findings, temporally modulated neural activity has also been observed in human studies. These results suggest a close correlation between the temporal processing stages of facial information by IT neurons and the temporal dynamics of face recognition.

  20. Role of Temporal Processing Stages by Inferior Temporal Neurons in Facial Recognition

    PubMed Central

    Sugase-Miyamoto, Yasuko; Matsumoto, Narihisa; Kawano, Kenji

    2011-01-01

    In this review, we focus on the role of temporal stages of encoded facial information in the visual system, which might enable the efficient determination of species, identity, and expression. Facial recognition is an important function of our brain and is known to be processed in the ventral visual pathway, where visual signals are processed through areas V1, V2, V4, and the inferior temporal (IT) cortex. In the IT cortex, neurons show selective responses to complex visual images such as faces, and at each stage along the pathway the stimulus selectivity of the neural responses becomes sharper, particularly in the later portion of the responses. In the IT cortex of the monkey, facial information is represented by different temporal stages of neural responses, as shown in our previous study: the initial transient response of face-responsive neurons represents information about global categories, i.e., human vs. monkey vs. simple shapes, whilst the later portion of these responses represents information about detailed facial categories, i.e., expression and/or identity. This suggests that the temporal stages of the neuronal firing pattern play an important role in the coding of visual stimuli, including faces. This type of coding may be a plausible mechanism underlying the temporal dynamics of recognition, including the process of detection/categorization followed by the identification of objects. Recent single-unit studies in monkeys have also provided evidence consistent with the important role of the temporal stages of encoded facial information. For example, view-invariant facial identity information is represented in the response at a later period within a region of face-selective neurons. Consistent with these findings, temporally modulated neural activity has also been observed in human studies. These results suggest a close correlation between the temporal processing stages of facial information by IT neurons and the temporal dynamics of face recognition

  1. Facial nerve paralysis in children

    PubMed Central

    Ciorba, Andrea; Corazzi, Virginia; Conz, Veronica; Bianchini, Chiara; Aimoni, Claudia

    2015-01-01

    Facial nerve palsy is a condition with several implications, particularly when occurring in childhood. It represents a serious clinical problem as it causes significant concerns in doctors because of its etiology, its treatment options and its outcome, as well as in little patients and their parents, because of functional and aesthetic outcomes. There are several described causes of facial nerve paralysis in children, as it can be congenital (due to delivery traumas and genetic or malformative diseases) or acquired (due to infective, inflammatory, neoplastic, traumatic or iatrogenic causes). Nonetheless, in approximately 40%-75% of the cases, the cause of unilateral facial paralysis still remains idiopathic. A careful diagnostic workout and differential diagnosis are particularly recommended in case of pediatric facial nerve palsy, in order to establish the most appropriate treatment, as the therapeutic approach differs in relation to the etiology. PMID:26677445

  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. Neuro-ophthalmological approach to facial nerve palsy.

    PubMed

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

    2015-01-01

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

  4. Neuro-ophthalmological approach to facial nerve palsy

    PubMed Central

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

    2014-01-01

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

  5. Enhanced Facial Symmetry Assessment in Orthodontists

    PubMed Central

    Jackson, Tate H.; Clark, Kait; Mitroff, Stephen R.

    2013-01-01

    Assessing facial symmetry is an evolutionarily important process, which suggests that individual differences in this ability should exist. As existing data are inconclusive, the current study explored whether a group trained in facial symmetry assessment, orthodontists, possessed enhanced abilities. Symmetry assessment was measured using face and non-face stimuli among orthodontic residents and two control groups: university participants with no symmetry training and airport security luggage screeners, a group previously shown to possess expert visual search skills unrelated to facial symmetry. Orthodontic residents were more accurate at assessing symmetry in both upright and inverted faces compared to both control groups, but not for non-face stimuli. These differences are not likely due to motivational biases or a speed-accuracy tradeoff—orthodontic residents were slower than the university participants but not the security screeners. Understanding such individual differences in facial symmetry assessment may inform the perception of facial attractiveness. PMID:24319342

  6. 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

  7. Composite Artistry Meets Facial Recognition Technology: Exploring the Use of Facial Recognition Technology to Identify Composite Images

    DTIC Science & Technology

    2011-09-01

    be submitted into a facial recognition program for comparison with millions of possible matches, offering abundant opportunities to identify the...to leverage the robust number of comparative opportunities associated with facial recognition programs. This research investigates the efficacy of...combining composite forensic artistry with facial recognition technology to create a viable investigative tool to identify suspects, as well as better

  8. Facial recognition in education system

    NASA Astrophysics Data System (ADS)

    Krithika, L. B.; Venkatesh, K.; Rathore, S.; Kumar, M. Harish

    2017-11-01

    Human beings exploit emotions comprehensively for conveying messages and their resolution. Emotion detection and face recognition can provide an interface between the individuals and technologies. The most successful applications of recognition analysis are recognition of faces. Many different techniques have been used to recognize the facial expressions and emotion detection handle varying poses. In this paper, we approach an efficient method to recognize the facial expressions to track face points and distances. This can automatically identify observer face movements and face expression in image. This can capture different aspects of emotion and facial expressions.

  9. Objectifying Facial Expressivity Assessment of Parkinson's Patients: Preliminary Study

    PubMed Central

    Patsis, Georgios; Jiang, Dongmei; Sahli, Hichem; Kerckhofs, Eric; Vandekerckhove, Marie

    2014-01-01

    Patients with Parkinson's disease (PD) can exhibit a reduction of spontaneous facial expression, designated as “facial masking,” a symptom in which facial muscles become rigid. To improve clinical assessment of facial expressivity of PD, this work attempts to quantify the dynamic facial expressivity (facial activity) of PD by automatically recognizing facial action units (AUs) and estimating their intensity. Spontaneous facial expressivity was assessed by comparing 7 PD patients with 8 control participants. To voluntarily produce spontaneous facial expressions that resemble those typically triggered by emotions, six emotions (amusement, sadness, anger, disgust, surprise, and fear) were elicited using movie clips. During the movie clips, physiological signals (facial electromyography (EMG) and electrocardiogram (ECG)) and frontal face video of the participants were recorded. The participants were asked to report on their emotional states throughout the experiment. We first examined the effectiveness of the emotion manipulation by evaluating the participant's self-reports. Disgust-induced emotions were significantly higher than the other emotions. Thus we focused on the analysis of the recorded data during watching disgust movie clips. The proposed facial expressivity assessment approach captured differences in facial expressivity between PD patients and controls. Also differences between PD patients with different progression of Parkinson's disease have been observed. PMID:25478003

  10. Objectifying facial expressivity assessment of Parkinson's patients: preliminary study.

    PubMed

    Wu, Peng; Gonzalez, Isabel; Patsis, Georgios; Jiang, Dongmei; Sahli, Hichem; Kerckhofs, Eric; Vandekerckhove, Marie

    2014-01-01

    Patients with Parkinson's disease (PD) can exhibit a reduction of spontaneous facial expression, designated as "facial masking," a symptom in which facial muscles become rigid. To improve clinical assessment of facial expressivity of PD, this work attempts to quantify the dynamic facial expressivity (facial activity) of PD by automatically recognizing facial action units (AUs) and estimating their intensity. Spontaneous facial expressivity was assessed by comparing 7 PD patients with 8 control participants. To voluntarily produce spontaneous facial expressions that resemble those typically triggered by emotions, six emotions (amusement, sadness, anger, disgust, surprise, and fear) were elicited using movie clips. During the movie clips, physiological signals (facial electromyography (EMG) and electrocardiogram (ECG)) and frontal face video of the participants were recorded. The participants were asked to report on their emotional states throughout the experiment. We first examined the effectiveness of the emotion manipulation by evaluating the participant's self-reports. Disgust-induced emotions were significantly higher than the other emotions. Thus we focused on the analysis of the recorded data during watching disgust movie clips. The proposed facial expressivity assessment approach captured differences in facial expressivity between PD patients and controls. Also differences between PD patients with different progression of Parkinson's disease have been observed.

  11. Compensation procedures for facial asymmetries.

    PubMed

    Kozol, F

    1995-01-01

    Why would a patient complain of "fuzzy and uncomfortable" vision with a variety of glasses? Perhaps because the practitioner has failed to take facial asymmetry into account. Methods of measuring facial asymmetry and optically correcting for it are discussed.

  12. Velo-Cardio-Facial Syndrome: 30 Years of Study

    PubMed Central

    Shprintzen, Robert J.

    2009-01-01

    Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlačková syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an expansive phenotype with more than 180 clinical features described that involve essentially every organ and system. The syndrome has drawn considerable attention because a number of common psychiatric illnesses are phenotypic features including attention deficit disorder, schizophrenia, and bipolar disorder. The expression is highly variable with some individuals being essentially normal at the mildest end of the spectrum, and the most severe cases having life-threatening and life-impairing problems. The syndrome is caused by a microdeletion from chromosome 22 at the q11.2 band. Although the large majority of affected individuals have identical 3 megabase deletions, less than 10% of cases have smaller deletions of 1.5 or 2.0 megabases. The 3 megabase deletion encompasses a region containing 40 genes. The syndrome has a population prevalence of approximately 1:2,000 in the U.S., although incidence is higher. Although initially a clinical diagnosis, today velo-cardio-facial syndrome can be diagnosed with extremely high accuracy by fluorescence in situ hybridization (FISH) and several other laboratory techniques. Clinical management is age dependent with acute medical problems such as congenital heart disease, immune disorders, feeding problems, cleft palate, and developmental disorders occupying management in infancy and preschool years. Management shifts to cognitive, behavioral, and learning disorders during school years, and then to the potential for psychiatric disorders including psychosis in late adolescence and adult years. Although the majority of people with velo-cardio-facial syndrome do not develop psychosis, the risk

  13. French-speaking children’s freely produced labels for facial expressions

    PubMed Central

    Maassarani, Reem; Gosselin, Pierre; Montembeault, Patricia; Gagnon, Mathieu

    2014-01-01

    In this study, we investigated the labeling of facial expressions in French-speaking children. The participants were 137 French-speaking children, between the ages of 5 and 11 years, recruited from three elementary schools in Ottawa, Ontario, Canada. The facial expressions included expressions of happiness, sadness, fear, surprise, anger, and disgust. Participants were shown one facial expression at a time, and asked to say what the stimulus person was feeling. Participants’ responses were coded by two raters who made judgments concerning the specific emotion category in which the responses belonged. 5- and 6-year-olds were quite accurate in labeling facial expressions of happiness, anger, and sadness but far less accurate for facial expressions of fear, surprise, and disgust. An improvement in accuracy as a function of age was found for fear and surprise only. Labeling facial expressions of disgust proved to be very difficult for the children, even for the 11-year-olds. In order to examine the fit between the model proposed by Widen and Russell (2003) and our data, we looked at the number of participants who had the predicted response patterns. Overall, 88.52% of the participants did. Most of the participants used between 3 and 5 labels, with correspondence percentages varying between 80.00% and 100.00%. Our results suggest that the model proposed by Widen and Russell (2003) is not limited to English-speaking children, but also accounts for the sequence of emotion labeling in French-Canadian children. PMID:24926281

  14. Facial gunshot wound debridement: debridement of facial soft tissue gunshot wounds.

    PubMed

    Shvyrkov, Michael B

    2013-01-01

    Over the period 1981-1985 the author treated 1486 patients with facial gunshot wounds sustained in combat in Afghanistan. In the last quarter of 20th century, more powerful and destructive weapons such as M-16 rifles, AK-47 and Kalashnikov submachine guns, became available and a new approach to gunshot wound debridement is required. Modern surgeons have little experience in treatment of such wounds because of rare contact with similar pathology. This article is intended to explore modern wound debridement. The management of 502 isolated soft tissue injuries is presented. Existing principles recommend the sparing of damaged tissues. The author's experience was that tissue sparing lead to a high rate of complications (47.6%). Radical primary surgical debridement (RPSD) of wounds was then adopted with radical excision of necrotic non-viable wound margins containing infection to the point of active capillary bleeding and immediate primary wound closure. After radical debridement wound infection and breakdown decreased by a factor of 10. Plastic operations with local and remote soft tissue were made on 14, 7% of the wounded. Only 0.7% patients required discharge from the army due to facial muscle paralysis and/or facial skin impregnation with particles of gunpowder from mine explosions. Gunshot face wound; modern debridement. Copyright © 2012 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

  15. 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.

  16. [Experimental studies for the improvement of facial nerve regeneration].

    PubMed

    Guntinas-Lichius, O; Angelov, D N

    2008-02-01

    Using a combination of the following, it is possible to investigate procedures to improve the morphological and functional regeneration of the facial nerve in animal models: 1) retrograde fluorescence tracing to analyse collateral axonal sprouting and the selectivity of reinnervation of the mimic musculature, 2) immunohistochemistry to analyse both the terminal axonal sprouting in the muscles and the axon reaction within the nucleus of the facial nerve, the peripheral nerve, and its environment, and 3) digital motion analysis of the muscles. To obtain good functional facial nerve regeneration, a reduction of terminal sprouting in the mimic musculature seems to be more important than a reduction of collateral sprouting at the lesion site. Promising strategies include acceleration of nerve regeneration, forced induced use of the paralysed face, mechanical stimulation of the face, and transplantation of nerve-growth-promoting olfactory epithelium at the lesion site.

  17. Photodynamic Therapy Interventions in Facial Photodamage: A Systematic Review.

    PubMed

    Sanclemente, G; Ruiz-Cañas, V; Miranda, J M; Ferrín, A P; Ramirez, P A; Hernandez, G N

    2018-04-01

    Photodynamic therapy (PDT) involves the combination of a light source and a photosensitizing agent to induce tissue damage via the generation of singlet oxygen. Although topical PDT has been approved for other indications, its use in facial photodamage is uncertain. To assess the efficacy and safety of PDT in facial skin photoaging. All randomized clinical trials (RCTs) evaluating the efficacy and safety of any form of topical PDT for the treatment of facial photodamage (dermatoheliosis) or photoaging in patients older than 18 years, were included. Photodynamic-therapy using any topical photosensitizing agent at any dose, and with any light-source, were considered. Comparators were chemical exfoliation, intense pulsed light (IPL), light emitting diodes (LED), dermabrasion or microdermabrasion, ablative or non-ablative lasers, injectables, surgery, placebo and/or no treatment. A systematic search in PubMed, Embase, Lilacs, Google Scholar and RCT's registry databases, was performed. Search was conducted up to May 4th 2016. Four authors independently selected and assessed methodological quality of each RCT. According to inclusion criteria, twelve studies were included (6 aminolevulinate (ALA) trials and 6 methyl aminolevulinate (MAL) trials), but the majority of them had methodological constraints particularly in randomization description and patients/outcome assessors blindness. Overall results indicated that PDT either with ALA or with MAL was effective and safe for facial photodamage treatment, but high quality of evidence was found mainly for MAL studies. Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  18. Biometrics: A Look at Facial Recognition

    DTIC Science & Technology

    a facial recognition system in the city’s Oceanfront tourist area. The system has been tested and has recently been fully implemented. Senator...Kenneth W. Stolle, the Chairman of the Virginia State Crime Commission, established a Facial Recognition Technology Sub-Committee to examine the issue of... facial recognition technology. This briefing begins by defining biometrics and discussing examples of the technology. It then explains how biometrics

  19. Role of electrical stimulation added to conventional therapy in patients with idiopathic facial (Bell) palsy.

    PubMed

    Tuncay, Figen; Borman, Pinar; Taşer, Burcu; Ünlü, İlhan; Samim, Erdal

    2015-03-01

    The aim of this study was to determine the efficacy of electrical stimulation when added to conventional physical therapy with regard to clinical and neurophysiologic changes in patients with Bell palsy. This was a randomized controlled trial. Sixty patients diagnosed with Bell palsy (39 right sided, 21 left sided) were included in the study. Patients were randomly divided into two therapy groups. Group 1 received physical therapy applying hot pack, facial expression exercises, and massage to the facial muscles, whereas group 2 received electrical stimulation treatment in addition to the physical therapy, 5 days per week for a period of 3 wks. Patients were evaluated clinically and electrophysiologically before treatment (at the fourth week of the palsy) and again 3 mos later. Outcome measures included the House-Brackmann scale and Facial Disability Index scores, as well as facial nerve latencies and amplitudes of compound muscle action potentials derived from the frontalis and orbicularis oris muscles. Twenty-nine men (48.3%) and 31 women (51.7%) with Bell palsy were included in the study. In group 1, 16 (57.1%) patients had no axonal degeneration and 12 (42.9%) had axonal degeneration, compared with 17 (53.1%) and 15 (46.9%) patients in group 2, respectively. The baseline House-Brackmann and Facial Disability Index scores were similar between the groups. At 3 mos after onset, the Facial Disability Index scores were improved similarly in both groups. The classification of patients according to House-Brackmann scale revealed greater improvement in group 2 than in group 1. The mean motor nerve latencies and compound muscle action potential amplitudes of both facial muscles were statistically shorter in group 2, whereas only the mean motor latency of the frontalis muscle decreased in group 1. The addition of 3 wks of daily electrical stimulation shortly after facial palsy onset (4 wks), improved functional facial movements and electrophysiologic outcome measures at

  20. 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