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

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Cristina Senín-Calderón

2017-06-01

Full Text Available 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.

Cosmetic Professionals' Awareness of Body Dysmorphic Disorder.

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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.

Body Dysmorphic Disorder

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Perihan Cam Ray

2012-12-01

Full Text Available Body dysmorphic disorder is a type of mental illness, wherein the affected person is concerned with body image, manifested as excessive concern about and preoccupation with a perceived defect of their physical features. Although it is a common disease and has been defined in the literature over a century, it is not a well known disease. Chronic, treatment resistant and sometimes delusional nature could result in severe functional impairment. The diagnosis and appropriate therapy of disorder are crucial because of increased suicidality and reduction in life quality. In this article the symptoms, etiology, clinical features and treatment of body dysmorphic disorder are briefly reviewed.

The Dorsoulnar Artery Perforator Adipofascial Flap in the Treatment of Distal Radioulnar Synostosis

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Alessia Pagnotta

2017-01-01

Full Text Available Posttraumatic radioulnar synostosis (RUS is a rare event following forearm fractures. Consequences are disabling for patients who suffer from functional limitation in forearm pronosupination. Distal RUS are even more rare and more difficult to treat because of high recurrence rates. The patient we describe in this paper came to our attention with a double distal RUS recurrence and a Darrach procedure already performed. We performed a radical excision of RUS and interposition with a vascularized dorsoulnar artery (DUA adipofascial perforator flap. Four years after surgery, the patient shows the same complete range of motion in pronosupination, and MRI confirms that the flap is still in place with signs of vascularization. Simple synostosis excision has been proven ineffective in many cases. Interposition is recommended after excision, and biological material interposition seems to be more effective than foreign material. Surgeons are increasingly performing vascularized interposition, and the results are very encouraging.

Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar)

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Kaissi, A Al; Ghachem, M Ben; Nassib, N; Chehida, F Ben [Hospital d' Enfants, Service d' orthopedie infantile, Tunis (Tunisia); Kozlowski, K [Department of Medical Imaging, Sydney (Australia)

2005-06-01

Spondylocarpotarsal synostosis syndrome (SSS) is characterised by malsegmentation of the thoracic spine and carpal/tarsal fusions. A unilateral or bilateral unsegmented bar may be present in the thoracic spine. Presenting clinical signs are congenital scoliosis early in life, and shortening of the trunk with scoliosis and/or lordosis in older children. We report a 13-year-old girl with SSS and a midline unsegmented bar running along the spinal processes of T3 to L2 and extending into the posterior vertebral elements. (orig.)

Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar)

International Nuclear Information System (INIS)

Kaissi, A. Al; Ghachem, M. Ben; Nassib, N.; Chehida, F. Ben; Kozlowski, K.

2005-01-01

Spondylocarpotarsal synostosis syndrome (SSS) is characterised by malsegmentation of the thoracic spine and carpal/tarsal fusions. A unilateral or bilateral unsegmented bar may be present in the thoracic spine. Presenting clinical signs are congenital scoliosis early in life, and shortening of the trunk with scoliosis and/or lordosis in older children. We report a 13-year-old girl with SSS and a midline unsegmented bar running along the spinal processes of T3 to L2 and extending into the posterior vertebral elements. (orig.)

A twin study of body dysmorphic concerns.

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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.

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

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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 dysmorphic disorder symptoms (p dysmorphic disorder severity were observed in the abdominoplasty (p 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.

Recognizing Body Dysmorphic Disorder (Dysmorphophobia)

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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

Pharmacological Treatment Of Body Dysmorphic Disorder.

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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.

Psychological treatment of social anxiety disorder improves body dysmorphic concerns.

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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.

Body Dysmorphic Disorder in Patients Presenting for Cosmetic Treatment

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Ebru Altintas

2015-09-01

Full Text Available Body dysmorphic disorder is an obsessive-compulsive related psychiatric disorder characterized by excessive preoccupation about an imagined or slight defect in appearance. Preoccupation of the appearance with the skin, hair and nose are most common. Impairment of the quality of life, comorbidity of the psychiatric and personality disorder are related with body dysmorphic disorder. Nowadays, cosmetic procedure has become increasingly popular especially among women. The prevalence of body dysmorphic disorder among patients seeking cosmetic treatment in surgery or dermatology clinics is higher than general population. As postoperatively some patients dissatisfied with the surgery, dermatologists and surgeons should be informed about body dysmorphic disorder. This aim of this review was to assess prevalance, clinical features, motivational factors of patients with body dysmorphic disorder presenting for cosmetic medical treatments. [Archives Medical Review Journal 2015; 24(3.000: 324-338

Body Dysmorphic Disorder

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... compulsive disorder. Environment. Your environment, life experiences and culture may contribute to body dysmorphic disorder, especially if they involve negative social evaluations about your body or self-image, or even childhood neglect or abuse. Risk factors ...

Correlates of dysmorphic concern in people seeking cosmetic enhancement

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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

The dysmorphic lung: imaging findings

International Nuclear Information System (INIS)

Mata, J.M.; Caceres, J.

1996-01-01

Congenital lung malformations are not infrequent and can be discovered in adults. It is, therefore, necessary to know their radiological manifestations in order to avoid diagnostic errors. We classify the congenital lung malformations in two main groups: dysmorphic lung and focal pulmonary malformations. We review the radiological spectrum of dysmorphic lung, based on a classification that emphasises the pulmonary abnormality, adding variants when diaphragmatic or venous abnormalities are present. In our opinion this approach allows for a rational use of advanced imaging techniques (CT, MRI). (orig.). With 13 figs

The dysmorphic lung: imaging findings

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Mata, J.M. [SDI-UDIAT, Consorci Hospitalari del Parc Tauli, Parc Tauli s/n, E-08208 Barcelona (Spain)]|[Universitat Autonoma de Barcelona, Barcelona (Spain); Caceres, J. [Universitat Autonoma de Barcelona, Barcelona (Spain)]|[Hospital de la Santa Creu i Sant Pau, Barcelona (Spain)

1996-08-01

Congenital lung malformations are not infrequent and can be discovered in adults. It is, therefore, necessary to know their radiological manifestations in order to avoid diagnostic errors. We classify the congenital lung malformations in two main groups: dysmorphic lung and focal pulmonary malformations. We review the radiological spectrum of dysmorphic lung, based on a classification that emphasises the pulmonary abnormality, adding variants when diaphragmatic or venous abnormalities are present. In our opinion this approach allows for a rational use of advanced imaging techniques (CT, MRI). (orig.). With 13 figs.

Body dysmorphic disorder: history and curiosities.

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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.

[Body dysmorphic disorder : Anxiety about deformity].

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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.

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

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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 dysmorphic disorder scores correlated inversely with the subjective nasal scoring (n = 210, p dysmorphic disorder symptoms significantly reduced the generic quality of life (n = 160, p 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.

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

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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.

Cost of treating sagittal synostosis in the first year of life.

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Abbott, Megan M; Rogers, Gary F; Proctor, Mark R; Busa, Kathleen; Meara, John G

2012-01-01

Endoscopically assisted suturectomy (EAS) has been reported to reduce the morbidity and cost of treating sagittal synostosis when compared with traditional open cranial vault remodeling (CVR) procedures. Whereas the former claim is well substantiated and intuitive, the latter has not been validated by rigorous cost analysis. Patient medical records and financial database reports were culled retrospectively to determine the total cost associated with both EAS and CVR during 1 year of care. Recorded cost data included physician and hospital services, orthotic equipment and fittings, and indirect patient cost. Ten patients treated with CVR were compared with 10 patients who underwent EAS. The CVR patients incurred greater costs in nearly all categories studied, including overall 1-year costs, physician services, hospital services, supplies/equipment, medications/intravenous fluids, and laboratory and blood bank services. Postoperative costs were greater in the EAS group, primarily because of the cost associated with orthotic services and indirect patient costs for travel and lost work. However, overall indirect patient costs for the whole year did not differ between the groups. One-year median costs were $55,121 for CVR and $23,377 for EAS. Early clinical results were similar for the 2 groups. Cranial vault remodeling was more costly in the first year of treatment than EAS, although indirect patient costs were similar. The favorable cost of EAS compared with CVR provides further justification to consider this procedure as first-line treatment of sagittal synostosis in young infants.

Alagille syndrome: case report with bilateral radio-ulnar synostosis and a literature review

International Nuclear Information System (INIS)

Ryan, R.S.; Munk, P.; Myckatyn, S.O.; Reid, G.D.

2003-01-01

We report a case of Alagille syndrome (arteriohepatic dysplasia) with the unusual radiological abnormality of synostosis of the proximal portions of the radius and ulna bilaterally, a manifestation which, to our knowledge, has not previously been described in a specific patient in the English language literature. We also describe additional features of the syndrome in the same patient and review the published literature on radiological manifestations of this condition. (orig.)

Body dysmorphic disorder

NARCIS (Netherlands)

Klatte, Julia; Vulink, Nienke; Kemperman, Patrick

2016-01-01

Body dysmorphic disorder (BDD) is a mental disorder by which the patient is obsessed with a perceived or minor defect in appearance, usually affecting the skin, hair, or nose, a defect hardly or not seen by others. This obsession can cause severe suffering and suicidality. Most patients consult a

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

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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.

Body dysmorphic disorder

DEFF Research Database (Denmark)

Jawad, Mustafa Bashir M; Sjögren, Magnus

2017-01-01

Body dysmorphic disorder is defined by a preoccupation of one or more non-existent or slight defects or flaws in the physical appearance. The prevalence is 1.7-2.4% in the general population with a higher incidence rate in women. The rate of suicidal ideation is as high as 80%, and up to 25...

Personality traits as vulnerability factors in body dysmorphic disorder.

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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.

Comparing Outcomes and Cost of 3 Surgical Treatments for Sagittal Synostosis: A Retrospective Study Including Procedure-Related Cost Analysis.

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Garber, Sarah T; Karsy, Michael; Kestle, John R W; Siddiqi, Faizi; Spanos, Stephen P; Riva-Cambrin, Jay

2017-10-01

Neurosurgical techniques for repair of sagittal synostosis include total cranial vault (TCV) reconstruction, open sagittal strip (OSS) craniectomy, and endoscopic strip (ES) craniectomy. To evaluate outcomes and cost associated with these 3 techniques. Via retrospective chart review with waiver of informed consent, the last consecutive 100 patients with sagittal synostosis who underwent each of the 3 surgical correction techniques before June 30, 2013, were identified. Clinical, operative, and process of care variables and their associated specific charges were analyzed along with overall charge. The study included 300 total patients. ES patients had fewer transfusion requirements (13% vs 83%, P cost savings compared with the TCV reconstruction. The charges were similar to those incurred with OSS craniectomy, but patients had a shorter length of stay and fewer revisions. Copyright © 2017 by the Congress of Neurological Surgeons

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

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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 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.

Synostosis Between Pubic Bones due to Neurogenic, Heterotopic Ossification

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Subramanian Vaidyanathan

2006-01-01

Full Text Available Neurogenic, heterotopic ossification is characterised by the formation of new, extraosseous (ectopic bone in soft tissue in patients with neurological disorders. A 33-year-old female, who was born with spina bifida, paraplegia, and diastasis of symphysis pubis, had indwelling urethral catheter drainage and was using oxybutynin bladder instillations. She was prescribed diuretic for swelling of feet, which aggravated bypassing of catheter. Hence, suprapubic cystostomy was performed. Despite anticholinergic therapy, there was chronic urine leak around the suprapubic catheter and per urethra. Therefore, the urethra was mobilised and closed. After closure of the urethra, there was no urine leak from the urethra, but urine leak persisted around the suprapubic catheter. Cystogram confirmed the presence of a Foley balloon inside the bladder; there was no urinary fistula. The Foley balloon ruptured frequently, leading to extrusion of the Foley catheter. X-ray of abdomen showed heterotopic bone formation bridging the gap across diastasis of symphysis pubis. CT of pelvis revealed heterotopic bone lying in close proximity to the balloon of the Foley catheter; the sharp edge of heterotopic bone probably acted like a saw and led to frequent rupture of the balloon of the Foley catheter. Unique features of this case are: (1 temporal relationship of heterotopic bone formation to suprapubic cystostomy and chronic urine leak; (2 occurrence of heterotopic ossification in pubic region; (3 complications of heterotopic bone formation viz. frequent rupture of the balloon of the Foley catheter by the irregular margin of heterotopic bone and difficulty in insertion of suprapubic catheter because the heterotopic bone encroached on the suprapubic track; (4 synostosis between pubic bones as a result of heterotopic ossification..Common aetiological factors for neurogenic, heterotopic ossification, such as forceful manipulation, trauma, or spasticity, were absent in this

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

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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.

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

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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.

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

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Marlies Verschuuren

Full Text Available 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.

The Prevalence of Body Dysmorphic Disorder in Female Adolescents of Yazd

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N Esnaashari

2014-08-01

Full Text Available Introduction: Body dysmorphic disorder is one of the common disorders in which adolescents give excessive attention to their appearances. In fact, it may causes disruptions in adolescents' individual and social life. Therefore, this study aimed to investigate the prevalence of body dysmorphic disorder in female adolescents of Yazd. Method: In this cross-sectional study, the population consisted of all high school female students of Yazd (N= 10737 in 2012-2013, among which 371 students were selected as the study sample by using Cochran formula and cluster sampling method. Moreover, the participants completed a series of demographic questions as well as the questionnaire of Yale-Brown Obsessive Compulsive Scale-Body Dysmorphic Disorder (Y-BOCS-BDD. Results: The findings revealed that 41% of sample were reported to have unusual concern about appearance and body shape in range of low to very severe. As a matter of fact, most of them experienced moderate severity and 7.1% showed severe body dysmorphic disorder that required immediate psychological intervention. The prevalence in female adolescents was estimated as 7.1% and most prevalent age of suffering was 17. Conclusion: In this research, it was endeavored to provide a more realistic image of body dysmorphic disorder in Yazd adolescents by utilizing a precise methodology. Considering the high prevalence of this disorder in female adolescents and its adverse consequences, some programs are recommended to be applied for diagnosis and early treatment of body dysmorphic disorder to promote adolescents mental health.

Abnormalities of Object Visual Processing in Body Dysmorphic Disorder

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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

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

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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.

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

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

2008-01-01

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

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

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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…

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

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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

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

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Tatiana Dalpasquale Ramos

Full Text Available ABSTRACT: CONTEXT AND OBJECTIVE: 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. DESIGN AND SETTING: Cross-cultural validation study conducted in a plastic surgery outpatient clinic of a public university hospital. METHODS: 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. RESULTS: 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. CONCLUSIONS: The Brazilian version of the Body Dysmorphic Symptoms Scale is a reproducible instrument that presents face, content and construct validity.

Synostosis of proximal phalangeal bases for loss of distal metacarpal

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Pankaj Jindal

2016-01-01

Full Text Available A finger rendered unstable due to loss of metacarpal head can be stabilized by creating a synostosis at the base of the proximal phalanx of the affected finger with the adjacent normal finger. A cortico cancellous graft bridges the two adjacent proximal phalanges at their bases which are temporarily stabilized with an external fixator. The procedure can be done for, recurrence of giant cell tumor of metacarpal and for traumatic metacarpal loss. The procedure and long term follow up of one patient is presented who had giant cell tumor. This option should be considered before offering ray amputation. There is no micro vascular surgery involved, nor is there any donor site morbidity. The graft heals well without any absorption. The affected finger shows excellent function in the long term followup.

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFbeta signaling and cause autosomal dominant spondylocarpotarsal synostosis

NARCIS (Netherlands)

Zieba, J.; Zhang, W.; Chong, J.X.; Forlenza, K.N.; Martin, J.H.; Heard, K.; Grange, D.K.; Butler, M.G.; Kleefstra, T.; Lachman, R.S.; Nickerson, D.; Regnier, M.; Cohn, D.H.; Bamshad, M.; Krakow, D.

2017-01-01

Spondylocarpotarsal synostosis (SCT) is a skeletal disorder characterized by progressive vertebral, carpal and tarsal fusions, and mild short stature. The majority of affected individuals have an autosomal recessive form of SCT and are homozygous or compound heterozygous for nonsense mutations in

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

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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.

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

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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.

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

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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.

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

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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.

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

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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.

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

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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.

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

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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

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

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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

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

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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.

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

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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.

Body dysmorphic disorder

DEFF Research Database (Denmark)

Jawad, Mustafa Bashir M; Sjögren, Magnus

2017-01-01

Body dysmorphic disorder is defined by a preoccupation of one or more non-existent or slight defects or flaws in the physical appearance. The prevalence is 1.7-2.4% in the general population with a higher incidence rate in women. The rate of suicidal ideation is as high as 80%, and up to 25......% of the patients attempt to commit suicide. Comorbidities, such as obsessive compulsive disorder, depression, and anxiety, are frequent. These patients may seek cosmetic or dermatologic rather than psychological treatment. In the view of the high prevalence and risk of suicide, recognizing this disorder...

Body dysmorphic disorder in the dermatology patient.

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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.

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

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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 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.

Is Postoperative Intensive Care Unit Care Necessary following Cranial Vault Remodeling for Sagittal Synostosis?

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Wolfswinkel, Erik M; Howell, Lori K; Fahradyan, Artur; Azadgoli, Beina; McComb, J Gordon; Urata, Mark M

2017-12-01

Of U.S. craniofacial and neurosurgeons, 94 percent routinely admit patients to the intensive care unit following cranial vault remodeling for correction of sagittal synostosis. This study aims to examine the outcomes and cost of direct ward admission following primary cranial vault remodeling for sagittal synostosis. An institutional review board-approved retrospective review was undertaken of the records of all patients who underwent primary cranial vault remodeling for isolated sagittal craniosynostosis from 2009 to 2015 at a single pediatric hospital. Patient demographics, perioperative course, and outcomes were recorded. One hundred ten patients met inclusion criteria with absence of other major medical problems. Average age at operation was 6.7 months, with a mean follow-up of 19.8 months. Ninety-eight patients (89 percent) were admitted to a general ward for postoperative care, whereas the remaining 12 (11 percent) were admitted to the intensive care unit for preoperative or perioperative concerns. Among ward-admitted patients, there were four (3.6 percent) minor complications; however, there were no major adverse events, with none necessitating intensive care unit transfers from the ward and no mortalities. Average hospital stay was 3.7 days. The institution's financial difference in cost of intensive care unit stay versus ward bed was $5520 on average per bed per day. Omitting just one intensive care unit postoperative day stay for this patient cohort would reduce projected health care costs by a total of $540,960 for the study period. Despite the common practice of postoperative admission to the intensive care unit following cranial vault remodeling for sagittal craniosynostosis, the authors suggest that postoperative care be considered on an individual basis, with only a small percentage requiring a higher level of care. Therapeutic, III.

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

Science.gov (United States)

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 dysmorphic disorder symptom scores positively correlated with Sheehan Disability Scale scores and Derriford Appearance Scale-59 scores at 3 months (rho = 0.43, p dysmorphic disorder symptoms on subjective outcomes after rhinoplasty, hence unveiling a crucial factor in patient dissatisfaction after aesthetic rhinoplasty.

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

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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.

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

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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.

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

Science.gov (United States)

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.

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

Directory of Open Access Journals (Sweden)

Prazeres AM

2013-02-01

Full Text Available Angélica M Prazeres,1 Antônio L Nascimento,1 Leonardo F Fontenelle1,21Anxiety and Depression Research Program, Institute of Psychiatry, Universidade Federal do Rio de Janeiro, Rio de Janeiro, 2Department of Psychiatry and Mental Health, Universidade Federal Fluminense, Hospital Universitário Antonio Pedro, Niterói, BrazilAbstract: 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.Keywords: dysmorphophobia, behavioral therapy, cognitive therapy, literature review

[Body dysmorphic disorder].

Science.gov (United States)

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.

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

Science.gov (United States)

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.

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

NARCIS (Netherlands)

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

2013-01-01

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

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

Science.gov (United States)

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.

Internal Distraction Osteogenesis With Piezosurgery Oblique Osteotomy of Supraorbital Margin of Frontal Bone for the Treatment of Unilateral Coronal Synostosis.

Science.gov (United States)

Shen, Weimin; Cui, Jie; Chen, Jianbing; Ji, Yi; Kong, Liangliang

2017-05-01

To assess the utility of internal distraction osteogenesis with Piezosurgery oblique osteotomy of supraorbital margin of frontal bone for the treatment of unilateral coronal synostosis and to study the outcome and complications of this procedure. Oblique osteotomy allows for entry into the cranial cavity, and along with parallel cut to the roof of the orbit, avoids the need to cut into the orbit which forms the frontal flap. Oblique osteotomy was performed along the supraorbital rim to do a frontal suture of the glabella (ages of patients were less than 1 year) or on the opposite side of the supraorbital rim (ages of patients were older than 1 year) after performing a suturectomy of the effected coronal suture. Two internal distraction devices were subsequently placed across the osteotomized, fused coronal suture. Finally, the cranium pieces were divided in the middle and placed in the middle of the frontal bone using biological glue. Five days after the operation, a 0.6-mm distraction was done twice daily. The distraction was removed 6 months after reaching 2 to 3 cm. Internal distraction osteogenesis with supraorbital oblique osteotomy was performed in 9 patients suffering from unilateral coronal synostosis. Eight patients had no postoperative infections around the shaft puncture wounds. One patient had infection in the rods around the distraction during the period of fixed, but was cured with antibiotic treatment. During a mean follow-up period of 12 months (5-26 months), all patients were satisfied with the cosmetic and functional results. No complications, including fixed screw displacement, penetration of the cranium and dura mater or retraction of distraction devices, occurred. The devices were exposed in 1 patient, resulting in a postoperative scar. Despite these complications, the cranium was successfully expanded in all patients. Use of this procedure avoids the need for frontal osteotomy to move the orbit forward. Adding 2 cranium strips can be used to

Cognitive-Behavioral Therapy for Adolescent Body Dysmorphic Disorder

Science.gov (United States)

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…

Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

Science.gov (United States)

Accogli, Andrea; Pacetti, Mattia; Fiaschi, Pietro; Pavanello, Marco; Piatelli, Gianluca; Nuzzi, Daniele; Baldi, Maurizia; Tassano, Elisa; Severino, Maria Savina; Allegri, Anna; Capra, Valeria

2015-03-01

We report on two patients with an unusual combination of achondroplasia and surgically treated sagittal synostosis and scaphocephaly. The most common achondroplasia mutation, p.Gly380Arg in fibroblast growth factor receptor 3 (FGFR3), was detected in both patients. Molecular genetic testing of FGFR1, FGFR2, FGFR3 and TWIST1 genes failed to detect any additional mutations. There are several reports of achondroplasia with associated craniosynostosis, but no other cases of scaphocephaly in children with achondroplasia have been described. Recently it has been demonstrated that FGFR3 mutations affect not only endochondral ossification but also membranous ossification, providing new explanations for the craniofacial hallmarks in achondroplasia. Our report suggests that the association of isolated scaphocephaly and other craniosynostoses with achondroplasia may be under recognized. © 2015 Wiley Periodicals, Inc.

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

Science.gov (United States)

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.

Modular Cognitive-Behavioral Therapy for Body Dysmorphic Disorder

Science.gov (United States)

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…

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

Childhood Abuse and Neglect in Body Dysmorphic Disorder

Science.gov (United States)

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…

Body Dysmorphic Disorder: Easing the Distress of Distortion.

Science.gov (United States)

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…

Delusional disorder-somatic type (or body dysmorphic disorder) and ...

African Journals Online (AJOL)

With regard to delusional disorder-somatic subtype there may be a relationship with body dysmorphic disorder. There are reports that some delusional disorders can evolve to become schizophrenia. Similarly, the treatment of such disorders with antipsychotics has been documented. This report describes a case of ...

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

Science.gov (United States)

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

Prevalence of Body Dysmorphic Disorder Among Patients Seeking Breast Reconstruction.

Science.gov (United States)

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.

Extensive cranioplasty for sagittal synostosis in young children by preserving cranial bone flaps adhered to the dura mater.

Science.gov (United States)

Nan, Bao; Bo, Yang; Yun-Hai, Song; Cheng, Chen; Xiong-Zheng, Mu

2015-03-01

This study aimed to evaluate extensive cranioplasty involving the frontal, parietal, occipital, and temporal bones without removing the floating bone flaps in the treatment of sagittal synostosis. Sixty-three children with sagittal synostosis, aged 5 months to 3 years, were included in the study. The frontal bone flap was removed using an air drill. The occipital and bilateral temporal bone flaps were cut open but not detached from the dura mater or fixed to produce floating bone flaps. The skull bone was cut into palisade-like structures. Brain compression from both sides and the base of the skull was released and the brain expanded bilaterally through the enlarged space. Only a long strip-shaped bone bridge remained in the central parietal bone. Subsequently, the frontal bone flaps and occipital bone flap were pushed towards the midline and fixed with the parietal bone bridge to shorten the anteroposterior diameter of the cranial cavity and allow the brain to expand bilaterally to correct scaphocephaly. Patients were followed up 1-5 years. Skull growth was excellent in all patients, the anteroposterior diameter was shortened, the transverse diameter was increased, the prominent forehead was corrected, and scaphocephaly improved significantly. There were no complications such as death and skull necrosis. Surgery without removing bone flaps is less traumatic and results in no massive bleeding. It can effectively relieve brain compression and promotes transversal expansion of the brain during surgery and subsequent normal brain development. The skull of young children is relatively thin and early surgery can easily achieve satisfactory bone reshaping. Our surgical technique is not only safe and effective but also can avoid subsequent psychological disorders caused by skull deformity.

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

NARCIS (Netherlands)

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

2014-01-01

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

Cognitive-Behavioral Body Image Therapy for Body Dysmorphic Disorder.

Science.gov (United States)

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)

What Rhinoplasty Surgeons Should Know about Body Dysmorphic Disorder (BDD)

NARCIS (Netherlands)

Reichert, M.; Scheithauer, M.; Hoffmann, T. K.; Hellings, P.; Picavet, V.

2014-01-01

Body dysmorphic disorder (BDD) is a psychiatric disorder characterized by an excessive concern with a non-existing or slight defect in physical appearance. BDD patients frequently show impaired judgment regarding the psychiatric origin of their concerns and often seek aesthetic treatment to resolve

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

NARCIS (Netherlands)

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

2014-01-01

AimThe 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. MethodIn our cross-sectional study, 272

[Extensive cranioplasty for sagittal synostosis in young children by preserving multiple cranial bone flaps adhered to the dura mater: experience with 63 cases].

Science.gov (United States)

Bao Nan; Chu Jun; Wang Xue; Yang, Bo; Song, Yunhai; Cai, Jinjing

2016-01-01

This study aimed to evaluate the effort of applying frontal and occipital bones in extensive cranioplasty and preserving multiple cranial bone flaps adhered to the dura mater in the treatment of sagittal synostosis. From April 2008 to June 2013, sixty-three children with sagittal synostosis, aged 5 months to 3 years, were included in the study. The frontal bone flap was removed using an air drill. The occipital and bilateral temporal bone flaps were cut open but not detached from the dura mater or fixed to produce floating bone flaps. The skull bone was cut into palisade-like structures. Brain compression from both sides and the base of the skull was released and the brain expanded bilaterally through the enlarged space. Only a long strip-shaped bone bridge remained in the central parietal bone. Subsequently, the frontal bone flaps and occipital bone flap were pushed towards the midline and fixed with the parietal bone bridge to shorten the anteroposterior diameter of the cranial cavity and allow the brain to expand bilaterally to correct scaphocephaly. The CT images showed that both sides of the parietal bone of artificial sagittal groove gradually merged postoperative 1 year, and skull almost completely normal healing after operation 2 or 3 years, without deformity recurrence within 5 years. Among them all, 61 children's intelligence is normal and 2 children's lagged behind normal level, no further improvement. Patients were followed up 1 - 5 years (an average of 43 months). Skull growth was excellent in all patients, the anteroposterior diameter was shortened by 14.6 mm averagely, the transverse diameter was increased by 12.3 mm averagely, the prominent forehead was corrected, and scaphocephaly improved significantly. There were no complications such as death and skull necrosis. The application of frontal and occipital bones in extensive cranioplasty and preserving multiple cranial bone flaps adhered to the dura mater can be used in the treatment of sagittal

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

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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

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

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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.

A Cognitive-Behavioral Treatment Approach for Body Dysmorphic Disorder

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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…

Prevalence of and associations between body dysmorphic concerns, obsessive beliefs and social anxiety.

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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.

Patient Selection in Plastic Surgery: Recognizing Body Dysmorphic Disorder

Directory of Open Access Journals (Sweden)

Cihan Sahin

2013-04-01

Full Text Available Plastic surgery is a branch of medicine that provides significant improvements to the people with positive changes. But first of all, this branch has a characteristic which requires analysing patients' psychological situation very carefully. Plastic surgeons are often confronted by patients with mental disorders seeking aesthetic surgery. It is imperative for surgeons to recognize possible underlying psychiatric illnesses. Common psychiatric conditions seen in cosmetic surgery patients include body dysmorphic disorder (BDD, narcissistic personality disorder and histrionic personality disorders. BDD is of particular importance to plastic surgeons. Because outrageous dissatisfaction with one's appearance may conceal psychopathologic traits that are not always easily recognizable, and which, if neglected, may result in serious iatrogenic and medicolegal consequences, we hope that this paper will help plastic surgeons in ultimately preventing patient and surgeon dissatisfaction within the population of patients with psychiatric disorders, and should recognize the diagnostic features of body dysmorphic disorder and screen psychologically unstable patients who may never be satisfied with surgery. [Arch Clin Exp Surg 2013; 2(2.000: 109-115

Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features.

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López-Uriarte, Arelí; Quintero-Rivera, Fabiola; de la Fuente Cortez, Beatriz; Puente, Viviana Gómez; Campos, María Del Roble Velazco; de Villarreal, Laura E Martínez

2013-10-15

We report here a child with a ring chromosome 2 [r(2)] associated with failure to thrive, microcephaly and dysmorphic features. The chromosomal aberration was defined by chromosome microarray analysis, revealing two small deletions of 2p25.3 (139 kb) and 2q37.3 (147 kb). We show the clinical phenotype of the patient, using a conventional approach and the molecular cytogenetics of a male with a history of prenatal intrauterine growth restriction (IUGR), failure to thrive, microcephaly and dysmorphic facial features. The phenotype is very similar to that reported in other clinical cases with ring chromosome 2. © 2013 Elsevier B.V. All rights reserved.

Loose anagen hair syndrome associated with colobomas and dysmorphic features

DEFF Research Database (Denmark)

Hansen, Lars Kjaersgård; Brandrup, Flemming; Clemmensen, Ole

2004-01-01

Loose anagen hair syndrome is an uncommon congenital disorder. It may occur in association with other syndromes and dysmorphic features. We report a girl who fulfilled the diagnostic criteria for this syndrome as proposed by Tosti (Arch Dermatol 2002, 138: 521-522). She also had several other...

Neurocognitive Functioning in Young Adults with Subclinical Body Dysmorphic Disorder.

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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.

Enhancing the Detection of Dysmorphic Red Blood Cells and Renal Tubular Epithelial Cells with a Modified Urinalysis Protocol.

Science.gov (United States)

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 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.

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

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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.

Evidence for a genetic overlap between body dysmorphic concerns and obsessive-compulsive symptoms in an adult female community twin sample.

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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.

Prevalence of Body Dysmorphic Disorder in Plastic Surgery and Dermatology Patients: A Systematic Review with Meta-Analysis.

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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 .

[Body dysmorphic disorder in cosmetic surgery - prevalence, psychiatric comorbidity and outcome].

Science.gov (United States)

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.

Body dysmorphic disorder screening in maxillofacial outpatients presenting for orthognathic surgery

NARCIS (Netherlands)

Vulink, N. C. C.; Rosenberg, A.; Plooij, J. M.; Koole, R.; Bergé, S. J.; Denys, D.

2008-01-01

Body dysmorphic disorder (BDD) is a severe psychiatric disease with delusions about defects in appearance for which patients seek surgical help. This is the first European study to determine the half-year prevalence of BDD in a maxillofacial outpatient clinic. A total of 160 patients with

Shadows of Beauty - Prevalence of Body Dysmorphic Concerns in Germany is Increasing: Data from Two Representative Samples from 2002 and 2013.

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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.

Skin picking disorder with co-occurring body dysmorphic disorder

DEFF Research Database (Denmark)

Grant, Jon E; Redden, Sarah A; Leppink, Eric W

2015-01-01

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 st...... 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....

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

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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.

Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients.

NARCIS (Netherlands)

Buggenhout, G.J.C.M. van; Ravenswaaij-Arts, C.M.A. van; Mieloo, H.; Syrrou, M.; Hamel, B.C.J.; Brunner, H.G.; Fryns, J.P.

2001-01-01

In an institutionalised population of 471 mentally retarded adult residents (436 males and 35 females), 18 patients (16 males and 2 females) with dysmorphic features were selected to perform FISH studies by using subtelomeric probes to discover cryptic terminal deletions or duplications,

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

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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

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

Science.gov (United States)

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.

Body dysmorphic factors and mental health problems in people seeking rhinoplastic surgery.

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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.

A Case with Mental Retardation, Gynecomastia and Dysmorphic Features

Directory of Open Access Journals (Sweden)

Ozge Ozalp Yuregir

2012-03-01

Full Text Available The 17 years old boy was diagnosed as Borjeson Forsmann Lehmann Syndrome who was referred to our Genetic Diagnosis Center for his dysmorphic features, obesity, gynecomasty and mental retardation . There are so many diseases in differantial diagnosis of obesity and mental retardation that BFLS is a rare one of them. We aimed to discuss the findings of the patient clinically diagnosed as BFLS within the scope of literature. [Cukurova Med J 2012; 37(1: 60-63

Relative relationships of general shame and body shame with body dysmorphic phenomenology and psychosocial outcomes.

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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.

A Case with Mental Retardation, Gynecomastia and Dysmorphic Features

Directory of Open Access Journals (Sweden)

Ozge Ozalp Yuregir

2012-02-01

Full Text Available The 17 years old boy was diagnosed as Borjeson Forsmann Lehmann Syndrome who was referred to our Genetic Diagnosis Center for his dysmorphic features, obesity, gynecomasty and mental retardation . There are so many diseases in differantial diagnosis of obesity and mental retardation that BFLS is a rare one of them. We aimed to discuss the findings of the patient clinically diagnosed as BFLS within the scope of literature. [Cukurova Med J 2012; 37(1.000: 60-63

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

Science.gov (United States)

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…

Penile Dysmorphic Disorder: Development of a Screening Scale.

Science.gov (United States)

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.

Suicidality in Body Dysmorphic Disorder

Science.gov (United States)

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

Ring chromosome 9 in a girl with developmental delay and dysmorphic features

DEFF Research Database (Denmark)

la Cour Sibbesen, Else; Jespersgaard, Cathrine; Alosi, Daniela

2013-01-01

In this report, we describe a female child with dysmorphic features and developmental delay. Chromosome microarray analysis followed by conventional karyotyping revealed a ring chromosome 9 with a 12 Mb deletion at 9pter-p23 and a 540 kb deletion at 9q34.3-qter. Four percent of the analyzed cells...

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

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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

Congenital axis dysmorphism in a medieval skeleton : …secunda a vertendo epistropheus….

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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.

Subthreshold body dysmorphic disorder in adolescents: Prevalence and impact.

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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.

Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism

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J.A. Avina Fierro

2016-01-01

Full Text Available We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial features. The anomalies of the face were the following: slight upward palpebral fissures, ocular hypertelorism, depressed nasal bridge, hypoplastic nasal root, short nose with anteverted nares; small low set ears, smooth broad philtrum and thin upper lip. The patient had important cerebral anomalies with diffuse alterations in white matter that caused developmental delay with verbal and nonverbal disabilities and severe learning difficulties. This clinical presentation is compatible with the diagnosis of the Opitz C syndrome, a heterogeneous disease of multiple neurological and craniofacial abnormalities. The physical sign more detectable and notorious is the trigonocephaly that is manifested by a prominent metopic suture, but also can be distinguished the other minor facial anomalies that are found in the eyes, nose, mouth and ears that constitute the phenotype of the disorder. The neurological development was altered by the compression of the cerebral frontal lobes with narrowing of this cerebral area, producing hypotonia with muscle weakness, epileptic episodes manifested by seizures, and neurobehavioral and neurocognitive disorders. This syndrome is a very rare genetic disorder with autosomal recessive inheritance trait; our patient had no chromosomal abnormality in the usual karyotype but the fluorescence in situ hybridization (FISH technique showed a balanced translocation between the chromosomes two and eleven: t(2:11 (q32.2/q24.

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

NARCIS (Netherlands)

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.

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

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.

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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 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.

Clinical Application of a Behavioral Model for the Treatment of Body Dysmorphic Disorder

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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…

The Relationship between Body Dysmorphic Disorder Behaviors and the Acquired Capability for Suicide

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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…

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

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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.

The developmental spectrum of proximal radioulnar synostosis

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Elliott, Alison M. [University of Manitoba, Winnipeg Regional Health Association Program of Genetics and Metabolism, Winnipeg, MB (Canada); University of Manitoba, Department of Paediatrics and Child Health, Winnipeg, MB (Canada); University of Manitoba, Department of Biochemistry and Medical Genetics, Winnipeg, MB (Canada); University of Manitoba, WRHA Program of Genetics and Metabolism, Departments of Paediatrics and Child Health, Biochemistry and Medical Genetics, Winnipeg, MB (Canada); Kibria, Lisa [University of Manitoba, Department of School of Medical Rehabilitation, Winnipeg, MB (Canada); Reed, Martin H. [University of Manitoba, Department of Paediatrics and Child Health, Winnipeg, MB (Canada); University of Manitoba, Department of Biochemistry and Medical Genetics, Winnipeg, MB (Canada); University of Manitoba, Department of Diagnostic Imaging, Winnipeg, MB (Canada)

2010-01-15

Proximal radioulnar synostosis is a rare upper limb malformation. The elbow is first identifiable at 35 days (after conception), at which stage the cartilaginous anlagen of the humerus, radius and ulna are continuous. Subsequently, longitudinal segmentation produces separation of the distal radius and ulna. However, temporarily, the proximal ends are united and continue to share a common perichondrium. We investigated the hypothesis that posterior congenital dislocation of the radial head and proximal radioulnar fusion are different clinical manifestations of the same primary developmental abnormality. Records were searched for ''proximal radioulnar fusion/posterior radial head dislocation'' in patients followed at the local Children's Hospital and Rehabilitation Centre for Children. Relevant radiographic, demographic and clinical data were recorded. Ethics approval was obtained through the University Research Ethics Board. In total, 28 patients met the inclusion criteria. The majority of patients (16) had bilateral involvement; eight with posterior dislocation of the radial head only; five had posterior radial head dislocation with radioulnar fusion and two had radioulnar fusion without dislocation. One patient had bilateral proximal radioulnar fusion and posterior dislocation of the left radial head. Nine patients had only left-sided involvement, and three had only right-sided involvement.The degree of proximal fusion varied, with some patients showing 'complete' proximal fusion and others showing fusion that occurred slightly distal to the radial head: 'partially separated.' Associated disorders in our cohort included Poland syndrome (two patients), Cornelia de Lange syndrome, chromosome anomalies (including tetrasomy X) and Cenani Lenz syndactyly. The suggestion of a developmental relationship between posterior dislocation of the radial head and proximal radioulnar fusion is supported by the fact that both anomalies

The value of three-dimensional photogrammetry in isolated sagittal synostosis: Impact of age and surgical technique on intracranial volume and cephalic index─a retrospective cohort study.

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Mertens, Christian; Wessel, Eline; Berger, Moritz; Ristow, Oliver; Hoffmann, Jürgen; Kansy, Katinka; Freudlsperger, Christian; Bächli, Heidrun; Engel, Michael

2017-12-01

The aim of this study was to compare the outcome of intracranial volume (ICV) and cephalic index (CI) between two different techniques for surgical therapy of sagittal synostosis. Between 2011 and 2015, all patients scheduled for surgical therapy of sagittal synostosis were consecutively enrolled. All patients younger than 6 months underwent early extended strip craniectomy (ESC group), and patients older than 6 months underwent late modified pi-procedure (MPP group). To measure ICV and CI, data acquisition was performed via three-dimensional photogrammetry, 1 day before (T0) and between 10 and 12 weeks after surgery (T1). Results were compared with an age-matched reference group of healthy children. Perioperative parameters, as duration of surgery and the amount of blood loss of both surgical procedures were analyzed. A total of 85 patients were enrolled. Of the patients, 48 underwent an extended strip craniotomy with parietal osteotomies and biparietal widening and 37 patients underwent a late modified pi-procedure. There was no significant difference between the ESC group and the MPP group regarding the efficacy of improving CI (p > 0.05). Both techniques were able to normalize CI and to improve head shape. ICV was normal compared to age-matched norm-groups with both techniques, pre- and postoperatively. However, duration of the surgical procedure and calculated blood loss were significantly lower in the ESC group (p photogrammetry is a valid method to objectively evaluate patients before and after surgery without exposing pediatric patients to ionizing radiation. Copyright © 2017 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.

Clinical features of muscle dysmorphia among males with body dysmorphic disorder

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

2005-01-01

Muscle dysmorphia – a pathological preoccupation with muscularity – appears to be a form of body dysmorphic disorder (BDD) with a focus on muscularity. However, little is known about muscle dysmorphia in men with BDD, and no study has compared men with BDD who do and do not report muscle dysmorphia. To explore this issue, we reviewed the histories of 63 men with BDD; we compared those rated as having a history of muscle dysmorphia with those who had BDD but not muscle dysmorphia in several do...

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

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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.

抑郁症合并躯体变形障碍的临床特征%CLINICAL FEATURES OF DEPRESSION WITH BODY DYSMORPHIC DISORDER

Institute of Scientific and Technical Information of China (English)

程宇

2015-01-01

Objective To study the clinical features of depression with body dysmorphic disorder .Meth‐ods A comparative study on the clinical data of 138 patients who had depression with or without body dysmorphic disorder was conducted .Results Of the 17 patients (12 .32% ) with depression and body dysmor‐phic disorder ,the levels of anxiety ,despair ,psychomotor inhibition ,self‐accusation ,self‐guilty and sui‐cidal behavior were found much higher than those in the patients without body dysmorphic disorder .The attack time in patients with body dysmorphic disorder was earlier than that in patientd without body dys‐morphic disorder ,and the combined treatments were frequently used .There existed no significant differ‐ence in onset time and curative effect between the two groups .Conclusion Body dysmorphic disorder is common in patients with depression ,and measures for preventing suicide in patients with body dysmorphic disorder should be taken .%目的：探讨抑郁症合并躯体变形障碍的临床特征。方法对138例抑郁症患者按照合并躯体变形障碍和不合并躯体变形障碍分为两组，对比分析两组患者的临床资料。结果抑郁症合并躯体变形障碍者17例（12．32％），其焦虑、绝望、精神运动性抑制、自责自罪、自杀行为显著高于不合并躯体障碍者，其发病年龄较早，联合用药较多，而起效时间、疗效与不合并躯体变形障碍者无显著性差异。结论躯体变形障碍在抑郁症中并非少见，对伴有躯体变形障碍的抑郁症患者应谨防自杀行为的发生。

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

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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.

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

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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.

Dysfunctional Metacognitive Beliefs in Body Dysmorphic Disorder

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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 (Pdysmorphic 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

Metacognitive therapy for body dysmorphic disorder patients in Iran: acceptability and proof of concept.

Science.gov (United States)

Rabiei, Mehdi; Mulkens, Sandra; Kalantari, Mehrdad; Molavi, Hossein; Bahrami, Fatemeh

2012-06-01

The purpose of the present study was to determine the effect of metacognitive therapy (MCT) on symptoms of body dysmorphic disorder (BDD) and on symptoms of thought-fusion, by means of a wait-list controlled clinical trial. Participants were referred from dermatology and cosmetic surgery clinics in the city of Isfahan, Iran, and 20 patients were selected on the basis of DSM-IV-TR diagnostic criteria for BDD. They were randomly assigned to either the experimental or the wait-list control group. The Yale-Brown Obsessive Compulsive Scale Modified for Body Dysmorphic Disorder (BDD-YBOCS) and the Thought-Fusion Inventory (TFI) were used as the outcome measures. The experimental group received 8 weekly metacognitive intervention sessions. The control group was in the waiting-list until the end of the follow-up. Measures were taken at pre-test, post-test (after 2 months) and follow-up (after 6-months). The results of analysis of variance showed that MCT significantly reduced the symptoms of BDD and of thought-fusion, compared to the wait-list. Effects on both outcome measures were maintained at 6-months follow-up. Copyright © 2011 Elsevier Ltd. All rights reserved.

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

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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.

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

Science.gov (United States)

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

Body Dysmorphic Disorder in Patients With Cosmetic Surgery

Directory of Open Access Journals (Sweden)

Chung-Sheng Lai

2010-09-01

Full Text Available Body dysmorphic disorder (BDD refers to a preoccupation with an imagined or grossly exaggerated minor physical defect. Those with BDD might seek medical help (cosmetic surgery rather than attend a psychiatric clinic. Therefore, it is often underdiagnosed. To investigate the prevalence of BDD, we reviewed the medical records of 817 individuals who sought cosmetic surgery during a 3-year period. The outcome after surgery was described for those with BDD. Our results showed that 63 (7.7% patients had BDD, of which 54 (85.7% were diagnosed at preoperative evaluation. However, nine (14.3% patients went undiagnosed and all had a bad outcome after cosmetic surgery. BDD was not uncommon at the cosmetic surgery clinic. Our results support the idea that cosmetic surgery should be avoided for patients with BDD. The development of a more effective diagnostic procedure could help address this issue.

Body Dysmorphic Disorder: Neurobiological Features and an Updated Model

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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

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

Science.gov (United States)

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

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

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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.

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

Science.gov (United States)

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.…

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

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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.

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

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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.

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

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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.

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

International Nuclear Information System (INIS)

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

2012-01-01

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

Dysmorphic disorders: clinical and nosological heterogeneity

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V. E. Medvedev

2016-01-01

Full Text Available The clinical picture of dysmorphophobia (DMP (dysmorphia, DM has been inadequately investigated; its descriptions are contradictory.Objective: to study the clinical structure of DMP (DM on a sample of plastic or cosmetic surgery patients.Patients and methods. An examination was made in of 103 patients, including 81 (78.6% women (mean age, 35.8±4.9 years and 22 (21.4% men (mean age, 30.9±5.7 years, who had gone to a clinic of cosmetic or plastic surgery with complaints of objectively unverified appearance defects and DM signs and given consent to take part in the investigation. All the patients underwent clinical and psychopathological examination; in so doing the follow-up data in the past 1-3 tears were borne in mind. Their somatic condition was analyzed on the basis of the data available in the medical documents and the results of laboratory, clinical, and instrumental studies.Results. The dysmorphic syndrome has been found to have overvalued, hypochondriacal, obsessive-compulsive, depressive, and delusional forms. It has been established that DM can manifest within schizophrenia, personality disorders, affective disorders, and organic mental diseases. Differential diagnostic criteria for different types of DM in heterogeneous psychopathological disorders are given.

New perspectives in the treatment of body dysmorphic disorder

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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

Body dysmorphic disorder: Diagnosis, clinical aspects and treatment strategies

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Rajiv Ahluwalia

2017-01-01

Full Text Available Aim: With the increased demand to undertake dental aesthetic and reconstructive procedures, it is imperative for all dental clinicians to have an understanding of body dysmorphic disorder (BDD. Patient's preoccupations with perceived defect in appearance or excessive concern about minimal flaws are among diagnostic criteria of BDD. Such patients are difficult to please and often undergo cosmetic procedures such as orthodontic treatment. Methodology: Literature search in PubMed/MEDLINE was conducted from 1891 to 2015. A manual search of relevant articles and review was done and relevant data was collected and analysed. Results: One of the most common areas of preoccupation is the dento-facial region, with up to 20% of patients diagnosed with BDD expressing specific concern regarding their dental appearance. Conclusion: BDD patients often request multiple aesthetic procedures, but remain unsatisfied with their treatment results.

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

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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.

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

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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.

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

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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.

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

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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.

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

Directory of Open Access Journals (Sweden)

Anisha Khanna

2017-01-01

Full Text Available 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.

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

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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.

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

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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.

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

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Katarzyna Ziora

2012-04-01

Full Text Available 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.

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

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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.

The Presentation of Body Dysmorphic Disorder in Medical Settings

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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

Occipital plagiocephaly: deformation or lambdoid synostosis? I. morphometric analysis and results of unilateral lambdoid craniectomy

International Nuclear Information System (INIS)

Dias, M.S.; Klein, D.M.; Backstrom, J.W.

1997-01-01

Between 1987 and 1992, 30 infants aged 1.4-13 months (mean 7.3 months) underwent unilateral lambdoid strip craniectomy at the Children's Hospital of Buffalo for occipital plagiocephaly. Males outnumbered females (22:8) and right-sided occipital flattening was significantly more common than left-sided flattening (25:5). The deformity was noticed at an average age of 3.2 months; 16% of the infants had an asymmetry at birth. Positional preferences (a distinct tendency to lie preferentially on the back, in most cases with the head turned to the ipsilateral side) were described in 79% of infants for whom this information was available, and torticollis was present in 10%. Pre-and post-operative CT scans were analyzed using several morphometric measurements. Asymmetries were measured between the flattened and contralateral sides, both posteriorly and anteriorly, using a translucent grid placed over the CT slice showing maximum asymmetry. The average maximum asymmetry between the flattened and contralateral sides was 24% posteriorly and 16% anteriorly. Significant improvements were seen postoperatively, with both anterior and posterior asymmetries improving by an average of one third (p < 0.05). However, when compared with CT scans from a control group of infants without synostosis, the operated group showed persistent and significant asymmetries postoperatively. The morphometric measurements described allow an objective and reproducible means of assessing the results of various treatments for this disorders. The improvements following unilateral lambdoid craniectomy are difficult to interpret in isolation; we suggest that future efforts be directed toward similarly assessing the results of both nonoperative treatments such as positional changes and molding helmets, and more aggressive surgical treatments that have been advocated for this disorders. (authors)

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

Science.gov (United States)

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.

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

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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.

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

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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.

Original Solution for Middle Ear Implant and Anesthetic/Surgical Management in a Child with Severe Craniofacial Dysmorphism

OpenAIRE

Giovanni Bianchin; Lorenzo Tribi; Aronne Reverzani; Patrizia Formigoni; Valeria Polizzi

2015-01-01

We describe the novel solution adopted in positioning middle ear implant in a child with bilateral congenital aural atresia and craniofacial dysmorphism that have posed a significant challenge for the safe and correct management of deafness. A five-year-old child, affected by a rare congenital disease (Van Maldergem Syndrome), suffered from conductive hearing loss. Conventional skin-drive bone-conduction device, attached with a steel spring headband, has been applied but auditory restoration ...

Classification of body dysmorphic disorder - what is the advantage of the new DSM-5 criteria?

Science.gov (United States)

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

2015-03-01

In DSM-5 the diagnosis of body dysmorphic disorder (BDD) has been subjected to two important changes: Firstly, BDD has been assigned to the category of obsessive-compulsive and related disorders. Secondly, a new criterion has been defined requiring the presence of repetitive behaviors or mental acts in response to appearance concerns. The aims of this study were to report the prevalence rates of BDD based on a DSM-5 diagnosis, and to evaluate the impact of the recently introduced DSM-5 criteria for BDD by comparing the prevalence rates (DSM-5 vs. BDD-criteria (DSM-IV/DSM-5), dysmorphic concerns, and depressive symptoms, were assessed in a representative sample of the German general population (N=2129, aged 18-65years). The association between BDD case identification based on DSM-IV and DSM-5 was strong (Phi=.95, p<.001), although point prevalence of BDD according to DSM-5 was slightly lower (2.9%, n=62 vs. 3.2%, n=68). Approximately one third of the identified BDD (DSM-5) cases reported time-consuming behavioral acts in response to appearance concerns. In detail, 0.8% of the German general population fulfilled the BDD criteria and reported repetitive acts of at least one hour/day. The revised criteria of BDD in DSM-5 do not seem to have an impact on prevalence rates. However, the recently added B-criterion reflects more precisely the clinical symptoms of BDD, and may be useful for distinguishing between various severity levels related to repetitive behaviors/mental acts. Copyright © 2015 Elsevier Inc. All rights reserved.

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

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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

A critical review of cosmetic treatment outcomes in body dysmorphic disorder.

Science.gov (United States)

Bowyer, Laura; Krebs, Georgina; Mataix-Cols, David; Veale, David; Monzani, Benedetta

2016-12-01

A high proportion of individuals with body dysmorphic disorder (BDD) undergo cosmetic treatments in an attempt to 'fix' perceived defect/s in their physical appearance. Despite the frequency with which such procedures are sought, few studies have prospectively examined the outcomes of cosmetic procedures in individuals with BDD. This article aims to critically review the literature and discuss the current debate that exists on outcomes of cosmetic treatment for individuals with BDD. An emerging literature suggests the majority of individuals with BDD have poor outcomes after cosmetic interventions; however, based on the current literature, it cannot be fully ruled out that certain individuals with mild BDD and localised appearance concerns may benefit from these interventions. Gaps in the current literature are highlighted, alongside recommendations for future research. Carefully conducted longitudinal studies with well-characterised patient populations are needed. Copyright © 2016 Elsevier Ltd. All rights reserved.

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

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

2005-12-01

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

Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report.

Science.gov (United States)

Schinagl, Carina; Melum, Guro Reinholt; Rødningen, Olaug Kristin; Bjørgo, Kathrine; Andresen, Jannicke Hanne

2017-08-17

Persistent pulmonary hypertension is a well-known disease of the newborn that in most cases responds well to treatment with nitric oxide and treatment of any underlying causes. Genetic causes of persistent pulmonary hypertension of the newborn are rare. The TWIST1 gene is involved in morphogenetics, and deletions are known to cause Saethre-Chotzen syndrome. Deletions of PHF14 have never been reported in neonates, but animal studies have shown a link between severe defects in lung development and deletions of this gene. There have not, to the best of our knowledge, been any publications of a link between the genes TWIST1 and PHF14 and persistent pulmonary hypertension of the newborn, making this a novel finding. We describe a white male neonate born at term to non-consanguineous white parents; he presented with dysmorphic features and a therapy-refractory persistent pulmonary hypertension. Array-based comparative genomic hybridization revealed the presence of a 14.7 Mb interstitial deletion on chromosome 7, encompassing the genes TWIST1 and PHF14. The TWIST1 gene can explain our patient's dysmorphic features. His severe persistent pulmonary hypertension has, however, not been described before in conjunction with the TWIST1 gene, but could be explained by involvement of PHF14, consistent with findings in animal experiments showing lethal respiratory failure with depletion of PHF14. These findings are novel and of importance for the clinical management and diagnostic workup of neonates with severe persistent pulmonary hypertension of the newborn and dysmorphic features.

How do people with body dysmorphic disorder view themselves? A thematic analysis.

Science.gov (United States)

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.

19p13.3 aberrations are associated with dysmorphic features and deviant psychomotor development.

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Siggberg, L; Olsén, P; Näntö-Salonen, K; Knuutila, S

2011-01-01

Here, we describe 2 patients with de novo genomic imbalances of 19p13.3. Using high-resolution microarray analysis, we detected a 1.25-Mb deletion in one patient and a 0.81- Mb duplication in another. The resulting phenotypes are quite different; one is a 2-year-old boy with macrocephaly and normal growth, while the other is a 9-year-old boy with microcephaly and growth retardation since birth. Both have dysmorphic features and psychomotor developmental delay. This report gives evidence of the effect of small aberrations of chromosome 19 and describes the phenotypes arising from a duplication and deletion of the same location at 19p13.3. Copyright © 2010 S. Karger AG, Basel.

Body dysmorphic disorder and cosmetic dermatology: more than skin deep

Science.gov (United States)

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

Patient-identified events implicated in the development of body dysmorphic disorder.

Science.gov (United States)

Weingarden, Hilary; Curley, Erin E; Renshaw, Keith D; Wilhelm, Sabine

2017-06-01

Little is known about the causes of body dysmorphic disorder (BDD), but researchers have proposed a diathesis-stress model. This study uses a patient-centered approach to identify stressful events to which patients attribute the development of their BDD symptoms. An Internet-recruited sample of 165 adults with BDD participated. A large minority of participants attributed the development of their BDD to a triggering event. Bullying experiences were the most commonly described type of event. Additionally, most events were interpersonal and occurred during grade school or middle school. There were no differences in severity of psychosocial outcomes between participants who did or did not attribute their BDD to a specific triggering event. However, participants who specifically attributed their BDD development to a bullying experience had poorer psychosocial outcomes (i.e., perceived social support, depression severity, functional impairment, quality of life) compared to those who attributed their BDD development to another type of triggering event. Copyright © 2017 Elsevier Ltd. All rights reserved.

MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions

DEFF Research Database (Denmark)

Kirchhoff, Maria; Bisgaard, Anne-Marie; Bryndorf, Thue

2007-01-01

MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal conventional karyotypes (P064 probe set, MRC-Holland, for detection of (micro)deletions associated with 1p36-deletion, Sotos, Williams...... referred with a clinical suspicion of a specific syndrome, which was confirmed in 17 patients (21.3%). The remaining 90 patients were referred because of mental retardation and dysmorphism but without suspicion of a specific syndrome. Seven imbalances, including four duplications, were detected in these 90...

Brazilian version of the body dysmorphic disorder examination.

Science.gov (United States)

Jorge, Renata Trajano Borges; Sabino Neto, Miguel; Natour, Jamil; Veiga, Daniela Francescato; Jones, Anamaria; Ferreira, Lydia Masako

2008-03-06

Body image improvement is considered to be the main reason for undergoing plastic surgery. The objective was to translate the Body Dysmorphic Disorder Examination (BDDE) into Brazilian Portuguese and to adapt and validate this questionnaire for use in Brazil. Cross-sectional survey, at the Department of Plastic Surgery of Universidade Federal de São Paulo. The BDDE was first translated into Portuguese and then back-translated into English. These translations were then discussed by healthcare professionals in order to establish the final Brazilian version. In a second stage, the validity and reliability of the BDDE were assessed. For this, patients were initially interviewed by two interviewers and subsequently, by only one of these interviewers. On the first occasion, in addition to the BDDE, the body shape questionnaire (BSQ) and the Rosenberg self-esteem scale were also applied. These questionnaires were applied to 90 patients. Six questions were modified during the assessment of cultural equivalence. Cronbach's alpha was 0.89 and the intraclass correlation coefficients for interobserver and test-retest reliability were 0.91 and 0.87, respectively. Pearson's coefficient showed no correlation between the BDDE and the Rosenberg self-esteem scale (0.22), whereas there was a moderate correlation between the BDDE and the BSQ (0.64). The BDDE was successfully translated and adapted, with good internal consistency, reliability and construct validity.

An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3

OpenAIRE

Bouhouche Ahmed; Benomar Ali; Errguig Leila; Lachhab Lamiae; Bouslam Naima; Aasfara Jehanne; Sefiani Sanaa; Chabraoui Layachi; El Fahime Elmostafa; El Quessar Abdeljalil; Jiddane Mohamed; Yahyaoui Mohamed

2012-01-01

Abstract Background Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa that appears to segregate in autosomal recessive pattern. Methods All family members underwent neurologic...

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

Cognitive-Behavioral Therapy for Body Dysmorphic Disorder by Proxy.

Science.gov (United States)

Greenberg, Jennifer L; Mothi, Suraj Sarvode; Wilhelm, Sabine

2016-07-01

Body dysmorphic disorder (BDD) is a distressing or impairing preoccupation with a perceived defect in physical appearance. BDD by proxy (BDDBP) is a significant but understudied variant of BDD in which the primary preoccupation involves perceived imperfections of another person. Like BDD, individuals with BDDBP engage in time-consuming rituals to "fix" the other person's appearance or alleviate distress. Avoidance is common and the impact of BDDBP on social functioning is profound. Cognitive-behavioral therapy (CBT) is the best-studied and most promising psychological treatment for BDD, but no studies have examined its generalizability to the BDDBP variant. We tested feasibility, acceptability, and treatment outcome of CBT modified for BDDBP in a sample of 6 adults with primary BDDBP. Treatment was delivered in weekly individual sessions over 12-20weeks. Mean symptom severity (BDDBP-YBOCS) dropped from the moderately severe range at pretreatment to the subclinical range at posttreatment, t(6)=10.7, p<.001, d=3.3. One hundred percent of treatment completers were responders (≥30% reduction in BDDBP-YBOCS). Insight also improved. Treatment gains were maintained at 3-month follow-up. To our knowledge, this represents the first treatment study for BDDBP. Copyright © 2016. Published by Elsevier Ltd.

[An old "new" disease: body dysmorphic disorder (dysmorphophobia)].

Science.gov (United States)

Szabó, Pál

2010-10-31

Body dysmorphic disorder causes significant suffering and serious impairment in psychosocial functions. However, this disease with dangerous risks is scarcely mentioned in the Hungarian medical literature. The objective of the author is to give a detailed review about this almost unknown, but relatively common disorder. The serious disorder of body perception is in the centre of symptoms, leading to social isolation, anxiety, depression and obsessive-compulsive phenomena. The disorder often remains unrecognized because of the lack of insight of disease. Comorbidity with affective disorders, anxiety disorders, personality disorders, eating disorders, alcoholism and substance use disorders is common. The life quality of affected patients is bad, the risk of suicide or violence is high. Biological, psychological and sociocultural factors play an important role in the etiopathogenesis of the disorder. Imaging techniques and neuropsychological measures revealed changes characteristic for the disease. Childhood abuse and neglect, appearance-related critical remarks, stressors and the impact of media are also supposed to have role in the development of the disorder. The point prevalence is 0.7-2.5% in the general population, however, in special groups such as in tertiary students, psychiatric, dermatological and cosmetic surgery patients the prevalence rates may be much higher. Typically, the disease begins in early adolescence, and it persists and deteriorates without treatment, showing a chronic course. By means of pharmacotherapy and/or psychotherapy long-during improvement or full recovery can be achieved within a relatively short period of time.

Brazilian version of the Body Dysmorphic Disorder Examination

Directory of Open Access Journals (Sweden)

Renata Trajano Borges Jorge

Full Text Available CONTEXT AND OBJECTIVE: Body image improvement is considered to be the main reason for undergoing plastic surgery. The objective was to translate the Body Dysmorphic Disorder Examination (BDDE into Brazilian Portuguese and to adapt and validate this questionnaire for use in Brazil. DESIGN AND SETTING: Cross-sectional survey, at the Department of Plastic Surgery of Universidade Federal de São Paulo. METHODS: The BDDE was first translated into Portuguese and then back-translated into English. These translations were then discussed by healthcare professionals in order to establish the final Brazilian version. In a second stage, the validity and reliability of the BDDE were assessed. For this, patients were initially interviewed by two interviewers and subsequently, by only one of these interviewers. On the first occasion, in addition to the BDDE, the body shape questionnaire (BSQ and the Rosenberg self-esteem scale were also applied. These questionnaires were applied to 90 patients. RESULTS: Six questions were modified during the assessment of cultural equivalence. Cronbach's alpha was 0.89 and the intraclass correlation coefficients for interobserver and test-retest reliability were 0.91 and 0.87, respectively. Pearson's coefficient showed no correlation between the BDDE and the Rosenberg self-esteem scale (0.22, whereas there was a moderate correlation between the BDDE and the BSQ (0.64. CONCLUSIONS: The BDDE was successfully translated and adapted, with good internal consistency, reliability and construct validity.

Brain connectome modularity in weight-restored anorexia nervosa and body dysmorphic disorder

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Zhang, A; Leow, A; Zhan, L; GadElkarim, J; Moody, T; Khalsa, S; Strober, M; Feusner, JD

2017-01-01

Background Anorexia nervosa (AN) and body dysmorphic disorder (BDD) frequently co-occur, and have several overlapping phenomenological features. Little is known about their shared neurobiology. Aims To compare modular organization of brain structural connectivity. Methods We acquired diffusion-weighted magnetic resonance imaging data on unmedicated individuals with BDD (n=29), weight-restored AN (n=24), and healthy controls (HC) (n=31). We constructed connectivity matrices using whole-brain white matter tractography, and compared modular structures across groups. Results AN showed abnormal modularity involving frontal, basal ganglia, and posterior cingulate nodes. There was a trend in BDD for similar abnormalities, but no significant differences compared with AN. In AN, poor insight correlated with longer path length in right caudal anterior cingulate and right posterior cingulate. Conclusions Abnormal network organization patterns in AN, partially shared with BDD, may have implications for understanding integration between reward and habit/ritual formation, as well as conflict monitoring/error detection. PMID:27429183

Body dysmorphic disorder symptoms and risk for suicide: The role of depression.

Science.gov (United States)

Shaw, A M; Arditte Hall, K A; Rosenfield, E; Timpano, K R

2016-12-01

Body dysmorphic disorder (BDD) is associated with elevated suicidality. Little is known about why BDD patients are at increased risk. The interpersonal-psychological theory of suicide (IPTS) could clarify suicidality in BDD, and theorizes that perceived burdensomeness and thwarted belongingness lead to suicidal desire, while an acquired capability for suicide is necessary to attempt suicide. No study has investigated how BDD symptoms relate to IPTS constructs or mediators of the relationship between BDD and suicidality. Individuals (N=235) enrolled in Amazon.com's Mechanical Turk (MTurk), who had appearance concerns, completed questionnaires about BDD, depression, eating pathology, and suicide risk. MTurk is an online data collection platform in which participants complete surveys for payment. BDD symptoms predicted suicidal desire, but not acquired capability for suicide. Depression mediated the relationship between BDD and suicidal desire. Research should examine how fluctuations in BDD affect suicide risk. Replication in a clinical sample may inform treatments for BDD. Copyright © 2016 Elsevier Ltd. All rights reserved.

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

Science.gov (United States)

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.

Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

Directory of Open Access Journals (Sweden)

Marie-Emmanuelle Naud

2017-01-01

Full Text Available Interstitial 17q24.1 or 17q24.2 deletions were reported after conventional cytogenetic analysis or chromosomal microarray analysis in patients presenting intellectual disability, facial dysmorphism, and/or malformations. We report on a fetus with craniofacial dysmorphism, talipes equinovarus, and syndactyly associated with a de novo 2.5 Mb 17q24.1q24.2 deletion. Among the deleted genes, KPNA2 and PSMD12 are discussed for the correlation with the fetal phenotype. This is the first case of prenatal diagnosis of 17q24.1q24.2 deletion.

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

Science.gov (United States)

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

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.

Science.gov (United States)

Ritelli, Marco; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Calzavara-Pinton, Piergiacomo; Colombi, Marina

2017-09-07

Spondylodysplastic EDS (spEDS) is a rare connective tissue disorder that groups the phenotypes caused by biallelic B4GALT7, B3GALT6, and SLC39A13 mutations. In the 2017 EDS nosology, minimal criteria (general and gene-specific) for a clinical suspicion of spEDS have been proposed, but molecular analysis is required to reach a definite diagnosis. The majority of spEDS patients presented with short stature, skin hyperextensibility, facial dysmorphisms, peculiar radiological findings, muscle hypotonia and joint laxity and/or its complications. To date only 7 patients with β4GALT7-deficiency (spEDS-B4GALT7) have been described and their clinical data suggested that, in addition to short stature and muscle hypotonia, radioulnar synostosis, hypermetropia, and delayed cognitive development might be a hallmark of this specific type of spEDS. Additional 22 patients affected with an overlapping phenotype, i.e., Larsen of Reunion Island syndrome, all carrying a homozygous B4GALT7 mutation, are also recognized. Herein, we report on a 30-year-old Moroccan woman who fitted the minimal criteria to suspect spEDS, but lacked radioulnar synostosis and intellectual disability and presented with neurosensorial hearing loss and limb edema of lymphatic origin. Sanger sequencing of B4GALT7 was performed since the evaluation of the spEDS gene-specific minor criteria suggested this specific subtype. Mutational screening revealed the homozygous c.829G>T, p.Glu277* pathogenetic variant leading to aberrant splicing. Our findings expand both the clinical and mutational spectrum of this ultrarare connective tissue disorder. The comparison of the patient's features with those of the other spEDS and Larsen of Reunion Island syndrome patients reported up to now offers future perspectives for spEDS nosology and clinical research in this field.

Body dysmorphic disorder in different settings: A systematic review and estimated weighted prevalence.

Science.gov (United States)

Veale, David; Gledhill, Lucinda J; Christodoulou, Polyxeni; Hodsoll, John

2016-09-01

Our aim was to systematically review the prevalence of body dysmorphic disorder (BDD) in a variety of settings. Weighted prevalence estimate and 95% confidence intervals in each study were calculated. The weighted prevalence of BDD in adults in the community was estimated to be 1.9%; in adolescents 2.2%; in student populations 3.3%; in adult psychiatric inpatients 7.4%; in adolescent psychiatric inpatients 7.4%; in adult psychiatric outpatients 5.8%; in general cosmetic surgery 13.2%; in rhinoplasty surgery 20.1%; in orthognathic surgery 11.2%; in orthodontics/cosmetic dentistry settings 5.2%; in dermatology outpatients 11.3%; in cosmetic dermatology outpatients 9.2%; and in acne dermatology clinics 11.1%. Women outnumbered men in the majority of settings but not in cosmetic or dermatological settings. BDD is common in some psychiatric and cosmetic settings but is poorly identified. Copyright © 2016 Elsevier Ltd. All rights reserved.

Seeing in the Mind's eye: Imagery rescripting for patients with body dysmorphic disorder. A single case series.

Science.gov (United States)

Ritter, Viktoria; Stangier, Ulrich

2016-03-01

Intrusive images of appearance play an important role in the maintenance of body dysmorphic disorder (BDD) and are often linked to negative autobiographical experiences. However, to date there is no study examining the use and efficacy of imagery rescripting in BDD. This study investigated imagery rescripting in six patients with BDD, using a single case series A-B design. The intervention consisted of two treatment sessions (T1, T2). BDD and depressive symptoms were evaluated prior to (T1), post (T2) and two weeks after intervention (FU), using the Yale -Brown Obsessive Compulsive Scale for BDD (BDD-YBOCS), the Body Dysmorphic Symptoms Inventory, and the Beck Depression Inventory. At post-treatment, significant reductions in negative affect, distress, vividness and encapsulated beliefs associated with images and memories as well as an increased control were observed for five of six patients. These were maintained or decreased at two weeks follow-up. Scores on the BDD-YBOCS indicated a significant 26% improvement in BDD severity at follow-up for the whole group. Considering response as a ≥ 30% reduction in BDD-YBOCS score, four of six patients were classified as treatment responders. At follow-up, significant improvements in BDD and depressive symptoms were observed for the whole group. The small sample size and the lack of a control group limit the generalizability of our results. The findings indicate the potential efficacy of imagery rescripting, and highlight the need for further controlled trials. Imagery rescripting should be considered as a treatment technique within the cognitive framework of BDD. Copyright © 2015 Elsevier Ltd. All rights reserved.

Disease: H00499 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H00499 Spondylocarpotarsal synostosis syndrome Spondylocarpotarsal synostosis syndrome is an autosomal recessive disease characterized by the malsegmentation of vertebrae and the fusion of carpal and tarsal bones. Retinal anomalies and hearing loss are also observed. Spondylocarpotarsal synostosis syndrome is due to FLNB mutations. Skeletal dysplasia FLNB (nonsense mutation) [HSA:2317] [KO:K04437] ... MeSH: C535780 OMIM: 272460 PMID:18386804 (description, gene) ... AUTHORS ... Brunetti-Pierri N, Esposito V, De Brasi D, Mattiacci DM, Krakow D, Lee B, Salerno M ... TITLE ... Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations. ... JOURNAL ... Am J Med Genet A 146A:1230-3 (2008) DOI:10.1002/ajmg.a.32303 ...

New perspectives in the treatment of body dysmorphic disorder [version 1; referees: 2 approved

Directory of Open Access Journals (Sweden)

Kevin Hong

2018-03-01

Full Text Available 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.

Set shifting and visuospatial organization deficits in body dysmorphic disorder.

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Greenberg, Jennifer L; Weingarden, Hilary; Reuman, Lillian; Abrams, Dylan; Mothi, Suraj S; Wilhelm, Sabine

2017-11-24

Individuals with body dysmorphic disorder (BDD) over-attend to perceived defect(s) in their physical appearance, often becoming "stuck" obsessing about perceived flaws and engaging in rituals to hide flaws. These symptoms suggest that individuals with BDD may experience deficits in underlying neurocognitive functions, such as set-shifting and visuospatial organization. These deficits have been implicated as risk and maintenance factors in disorders with similarities to BDD but have been minimally investigated in BDD. The present study examined differences in neurocognitive functions among BDD participants (n = 20) compared to healthy controls (HCs; n = 20). Participants completed neuropsychological assessments measuring set-shifting (Cambridge Neuropsychological Test Automated Battery Intra-Extra Dimensional Set Shift [IED] task) and visuospatial organization and memory (Rey-Osterrieth Complex Figure Test [ROCF]). Results revealed a set-shifting deficit among BDD participants compared to HCs on the IED. On the ROCF, BDD participants exhibited deficits in visuospatial organization compared to HCs, but they did not differ in visuospatial memory compared to HCs. Results did not change when accounting for depression severity. Findings highlight neurocognitive deficits as potential endophenotype markers of clinical features (i.e., delusionality). Understanding neuropsychological deficits may clarify similarities and differences between BDD and related disorders and may guide targets for BDD treatment. Copyright © 2017 Elsevier B.V. All rights reserved.

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

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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

Comorbidity between obsessive-compulsive disorder and body dysmorphic disorder: prevalence, explanatory theories, and clinical characterization

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Frías Á

2015-08-01

Full Text Available Álvaro Frías,1,2 Carol Palma,1,2 Núria Farriols,1,2 Laura González2 1FPCEE Blanquerna, Universitat Ramon Llull, Barcelona, 2Adult Outpatient Mental Health Center, Hospital de Mataró – CSdM, Mataró, Spain Background: With the advent of the fifth edition of Diagnostic and Statistical Manual of Mental Disorders, body dysmorphic disorder (BDD has been subsumed into the obsessive-compulsive disorders and related disorders (OCDRD category. Objective: We aimed to determine the empirical evidence regarding the potential relationship between BDD and obsessive-compulsive disorder (OCD based on the prevalence data, etiopathogenic pathways, and clinical characterization of patients with both disorders. Method: A comprehensive search of databases (PubMed and PsycINFO was performed. Published manuscripts between 1985 and May 2015 were identified. Overall, 53 studies fulfilled inclusion criteria. Results: Lifetime comorbidity rates of BDD–OCD are almost three times higher in samples with a primary diagnosis of BDD than those with primary OCD (27.5% vs 10.4%. However, other mental disorders, such as social phobia or major mood depression, are more likely among both types of psychiatric samples. Empirical evidence regarding the etiopathogenic pathways for BDD–OCD comorbidity is still inconclusive, whether concerning common shared features or one disorder as a risk factor for the other. Specifically, current findings concerning third variables show more divergences than similarities when comparing both disorders. Preliminary data on the clinical characterization of the patients with BDD and OCD indicate that the deleterious clinical impact of BDD in OCD patients is greater than vice versa. Conclusion: Despite the recent inclusion of BDD within the OCDRD, data from comparative studies between BDD and OCD need further evidence for supporting this nosological approach. To better define this issue, comparative studies between BDD, OCD, and social phobia

The relationship between perceived social support and severity of body dysmorphic disorder symptoms: the role of gender O efeito do gênero sobre a relação entre suporte social apreendido e gravidade dos sintomas do transtorno dismórfico corporal

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Luana Marques

2011-09-01

Full Text Available OBJECTIVE: 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. METHOD: Participants (N = 400 with symptoms consistent with diagnosis of body dysmorphic disorder completed measures of symptomatology and social support via the internet. RESULTS: 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. CONCLUSION: The present study implicates social support as an important area of future body dysmorphic disorder research.OBJETIVO: Não há informação sobre o impacto do suporte social apreendido sobre a gravidade dos sintomas do transtorno dismórfico corporal. A fim de investigar essa relação, este estudo visa avaliar a associação entre três domínios do suporte social apreendido (familiares, amigos, e relacionamentos amorosos significativos e a gravidade dos sintomas do transtorno dismórfico corporal. MÉTODO: Os participantes (N = 400 com sintomas compatíveis com o diagnóstico de transtorno dismórfico corporal preencheram questionários sobre seus sintomas e suporte social via internet. RESULTADOS: Foi encontrada correlação inversa estatisticamente significativa entre a apreensão do suporte social por parte de amigos e relacionamentos amorosos e a

The relationship between perceived social support and severity of body dysmorphic disorder symptoms: the role of gender O efeito do gênero sobre a relação entre suporte social apreendido e gravidade dos sintomas do transtorno dismórfico corporal

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Luana Marques

2011-01-01

Full Text Available OBJECTIVE: 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. METHOD: Participants (N = 400 with symptoms consistent with diagnosis of body dysmorphic disorder completed measures of symptomatology and social support via the internet. RESULTS: 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. CONCLUSION: The present study implicates social support as an important area of future body dysmorphic disorder research.OBJETIVO: Não há informação sobre o impacto do suporte social apreendido sobre a gravidade dos sintomas do transtorno dismórfico corporal. A fim de investigar essa relação, este estudo visa avaliar a associação entre três domínios do suporte social apreendido (familiares, amigos, e relacionamentos amorosos significativos e a gravidade dos sintomas do transtorno dismórfico corporal. MÉTODO: Os participantes (N = 400 com sintomas compatíveis com o diagnóstico de transtorno dismórfico corporal preencheram questionários sobre seus sintomas e suporte social via internet. RESULTADOS: Foi encontrada correlação inversa estatisticamente significativa entre a apreensão do suporte social por parte de amigos e relacionamentos amorosos e a

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.

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Hirschfeldova, K; Solc, R; Baxova, A; Zapletalova, J; Kebrdlova, V; Gaillyova, R; Prasilova, S; Soukalova, J; Mihalova, R; Lnenicka, P; Florianova, M; Stekrova, J

2012-01-10

The aim of the study was to analyze frequency of SHOX gene defects and selected dysmorphic signs in patients of both idiopathic short stature (ISS) and Léri-Weill dyschondrosteosis (LWD), all derived from the Czech population. Overall, 98 subjects were analyzed in the study. Inclusion criteria were the presence of short stature (-2.0 SD), in combination with at least one of the selected dysmorphic signs for the ISS+ group; and the presence of Madelung deformity, without positive karyotyping for the LWD+ group. Each proband was analyzed by use of P018 MLPA kit, which covers SHOX and its regulatory sequences. Additionally, mutational analysis was done of the coding portions of the SHOX. Both extent and breakpoint localizations in the deletions/duplications found were quite variable. Some PAR1 rearrangements were detected, without obvious phenotypic association. In the ISS+ group, MLPA analysis detected four PAR1 deletions associated with a SHOX gene defect, PAR1 duplication with an ambiguous effect, and two SHOX mutations (13.7%). In the LWD+ group, MLPA analysis detected nine deletions in PAR1 region, with a deleterious effect on SHOX, first reported case of isolated SHOX enhancer duplication, and SHOX mutation (68.8%). In both ISS+ and LWD+ groups were positivity associated with a disproportionately short stature; in the ISS+ group, in combination with muscular hypertrophy. It seems that small PAR1 rearrangements might be quite frequent in the population. Our study suggests disproportionateness, especially in combination with muscular hypertrophy, as relevant indicators of ISS to be the effect of SHOX defect. Copyright © 2011 Elsevier B.V. All rights reserved.

A comparison of self-esteem and perfectionism in anorexia nervosa and body dysmorphic disorder.

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Hartmann, Andrea S; Thomas, Jennifer J; Greenberg, Jennifer L; Matheny, Natalie L; Wilhelm, Sabine

2014-12-01

Previous studies have identified phenotypic similarities between anorexia nervosa (AN) and body dysmorphic disorder (BDD), which share the common feature of negative body image. Studies comparing endophenotypes that may cut across both disorders-as suggested by the National Institute of Mental Health's Research Domain Criteria-are limited. Sixty-nine individuals (AN, n = 24; BDD, n = 23; mentally healthy controls [MHCs], n = 22) completed diagnostic interviews and self-reports assessing self-esteem and perfectionism. Clinical groups showed greater perfectionism in almost all subdimensions as well as poorer self-esteem compared with MHCs, with no clinical group differences when controlling for level of depression. Depression was a mediator of the relationship between symptom severity and self-esteem in both clinical groups. Comparable low self-esteem and greater perfectionism in AN and BDD corroborated existing etiological models and previous studies. Depression was a significant contributor to negative self-esteem in both disorders.

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

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Niturad, Cristina Elena; Lev, Dorit; Kalscheuer, Vera M; Charzewska, Agnieszka; Schubert, Julian; Lerman-Sagie, Tally; Kroes, Hester Y; Oegema, Renske; Traverso, Monica; Specchio, Nicola; Lassota, Maria; Chelly, Jamel; Bennett-Back, Odeya; Carmi, Nirit; Koffler-Brill, Tal; Iacomino, Michele; Trivisano, Marina; Capovilla, Giuseppe; Striano, Pasquale; Nawara, Magdalena; Rzonca, Sylwia; Fischer, Ute; Bienek, Melanie; Jensen, Corinna; Hu, Hao; Thiele, Holger; Altmüller, Janine; Krause, Roland; May, Patrick; Becker, Felicitas; Balling, Rudi; Biskup, Saskia; Haas, Stefan A; Nürnberg, Peter; van Gassen, Koen L I; Lerche, Holger; Zara, Federico; Maljevic, Snezana; Leshinsky-Silver, Esther

2017-11-01

Genetic epilepsies are caused by mutations in a range of different genes, many of them encoding ion channels, receptors or transporters. While the number of detected variants and genes increased dramatically in the recent years, pleiotropic effects have also been recognized, revealing that clinical syndromes with various degrees of severity arise from a single gene, a single mutation, or from different mutations showing similar functional defects. Accordingly, several genes coding for GABAA receptor subunits have been linked to a spectrum of benign to severe epileptic disorders and it was shown that a loss of function presents the major correlated pathomechanism. Here, we identified six variants in GABRA3 encoding the α3-subunit of the GABAA receptor. This gene is located on chromosome Xq28 and has not been previously associated with human disease. Five missense variants and one microduplication were detected in four families and two sporadic cases presenting with a range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus. The variants co-segregated mostly but not completely with the phenotype in the families, indicating in some cases incomplete penetrance, involvement of other genes, or presence of phenocopies. Overall, males were more severely affected and there were three asymptomatic female mutation carriers compared to only one male without a clinical phenotype. X-chromosome inactivation studies could not explain the phenotypic variability in females. Three detected missense variants are localized in the extracellular GABA-binding NH2-terminus, one in the M2-M3 linker and one in the M4 transmembrane segment of the α3-subunit. Functional studies in Xenopus laevis oocytes revealed a variable but significant reduction of GABA-evoked anion currents for all mutants compared to wild-type receptors. The degree of current reduction correlated partially with the phenotype

Personality disorders and traits in patients with body dysmorphic disorder.

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Phillips, K A; McElroy, S L

2000-01-01

Individuals with body dysmorphic disorder (BDD) have been postulated to have schizoid, narcissistic, and obsessional personality traits and to be sensitive, introverted, perfectionistic, and insecure. However, data on personality traits and disorders in BDD are limited. This study assessed 148 subjects with BDD, 26 of whom participated in a fluvoxamine treatment study; 74 subjects were assessed for personality disorders with the Structured Clinical Interview for DSMIII-R Personality Disorders (SCID-II), 100 subjects completed the NEO-Five Factor Inventory (NEO-FFI), and 51 subjects completed the Rathus Assertiveness Scale. Forty-two subjects (57%) had one or more personality disorders, with avoidant personality disorder (43%) being most common, followed by dependent (15%), obsessive-compulsive (14%), and paranoid (14%) personality disorders. On the NEO-FFI, the mean scores were in the very high range for neuroticism, the low range for extraversion and conscientiousness, the low-average range for agreeableness, and the average range for openness to experience. On the Rathus Assertiveness Scale, the mean score was -17.1 +/- 32.0 for women and -17.0 +/- 32.3 for men. Among fluvoxamine responders, the number of personality disorders significantly decreased between the study baseline and endpoint. These findings suggest that the rate of personality disorders in BDD is relatively high, with avoidant personality disorder being most common. The high neuroticism scores and low extraversion scores are consistent with this finding.

Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development

DEFF Research Database (Denmark)

Jespersgaard, Cathrine; Damgaard, Ida N; Cornelius, Nanna

2016-01-01

of the region from 32.3 Mb to 37.1 Mb was more crucial than the deletion of other regions. CASE PRESENTATION: In this study we describe a female patient with dysmorphic features, hepatomegaly, thick myocardium and psychomotor delay. Conventional karyotyping was initially interpreted as full monosomy 21...

Symptoms of muscle dysmorphia, body dysmorphic disorder, and eating disorders in a nonclinical population of adult male weightlifters in Australia.

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Nieuwoudt, Johanna E; Zhou, Shi; Coutts, Rosanne A; Booker, Ray

2015-05-01

The current study aimed to (a) determine the rates of symptoms of muscle dysmorphia (MD), body dysmorphic disorder (BDD), and eating disorder; (b) determine the relationships among symptoms of MD, BDD, and eating disorders; and (c) provide a comprehensive comparison of symptoms of MD, BDD, and eating disorders in a nonclinical population of adult male weightlifters in Australia. The participants (N = 648, mean age = 29.5 years, SD = 10.1) participated in an online survey, consisting of Muscle Appearance Satisfaction Scale, the Body Dysmorphic Disorder Questionnaire, and the Eating Attitude Test-26. Results indicated that 110 participants (17%) were at risk of having MD, 69 participants (10.6%) were at risk of having BDD, and 219 participants (33.8%) were at risk of having an eating disorder. Furthermore, 36 participants (5.6%) were found at risk of having both MD and BDD, and 60 participants (9.3%) were at risk of having both MD and an eating disorder. Significant correlations and associations were found between symptoms of MD and BDD, and symptoms of MD and eating disorders. Support was provided for the comorbidity of, and symptomatic similarities between, symptoms of MD and BDD, and symptoms of MD and eating disorders. This may reflect a shared pathogenesis between symptoms of MD, BDD, and eating disorders. Strength and conditioning professionals, exercise scientists, athletic trainers, and personal trainers should be aware that adult males who are working out with weights (i.e., free weights or machines) may be at increased risk of having MD, BDD, and eating disorders.

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

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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.

Cognitive-Behavioral Therapy for Youth with Body Dysmorphic Disorder: Current Status and Future Directions

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Phillips, Katharine A.; Rogers, Jamison

2011-01-01

SYNOPSIS Body dysmorphic disorder (BDD), a distressing or impairing preoccupation with nonexistent or slight defect(s) in appearance, usually begins during early adolescence and appears to be common in youth. BDD is characterized by substantial impairment in psychosocial functioning and markedly high rates of suicidality. Cognitive-behavioral therapy (CBT) tailored to BDD’s unique features is the best tested and most promising psychosocial treatment for adults with BDD. CBT has been used for youth with BDD, but it has not been systematically developed for or tested in this age group, and there is a pressing need for this work to be done. This article focuses on CBT for BDD in adults and youth, possible adaptations for youth, and the need for treatment research in youth. We also discuss BDD’s prevalence, clinical features, how to diagnose BDD in youth, recommended pharmacotherapy for BDD (serotonin-reuptake inhibitors), and treatments that are not recommended (surgery and other cosmetic treatments). PMID:21440856

Prevalence of body dysmorphic disorder in patients referred to Razi hospital cosmetic clinic with complaints of cosmetic disorders

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Amirhooshang Ehsani

2013-06-01

Full Text Available Background: Body dysmorphic disorder (BDD is characterized by a preoccupation with an imagined defect in ones appearance or an exaggeration of a slight physical anomaly. Any part of the appearance may be the focuse of BDD patients. Thus preoccupation with appearance leads to significant damages of social and job functioning. The aim of this study is to determine the prevalence of BDD in patients referred to cosmetic clinic of Razi hospital.Methods: Patients visiting cosmetic clinic of Razi hospital were selected if they agreed to participate in the study. They were evaluated by Yale brown obsessive compulsive scale modified for body dysmorphic disorder (YBOCS-BDD as well as questionnaires containing demographic characteristics of patients including gender, educational status, marital status, history of reference to psychiatrist or psychologist, other medication, history of cosmetic surgery and rate of satisfaction of cosmetic surgery. YBOCS-BDD questionnaires then processed by educated specialist to determine BDD score of patie-nts. Demographic questionnaires, also analysed to evaluate epidemiologic properties of patients visiting cosmetic clinic of Razi hospital.Results: The prevalence of BDD in current sample was 33.3%. 70.7% of BDD patients were female while 29.3% were male. The commonest age range was 21-50 years (82.8%. 65.5% were educated to level of diploma or lower, while 34.5% had academic degrees. 51.7% were married. 20.7% had history of reference to psychiatrist or psycholo-gist. 17/2% had history of cosmetic surgery with satisfaction ranging from unsatisfied (20% to relative satisfaction (80%. None were fully satisfied.Conclusion: BDD had high prevalence in patients visiting cosmetic clinic of Razi skin hospital. This high rate of prevalence show the necessity of diagnosis of BDD in skin patients and it is critical for them to refer to psychiatrists or psychologists.

Recent advances in understanding and managing body dysmorphic disorder

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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

Body Dysmorphic Disorder: Some Key Issues for DSM-V

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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

Body dysmorphic disorder: some key issues for DSM-V.

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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.

Original Solution for Middle Ear Implant and Anesthetic/Surgical Management in a Child with Severe Craniofacial Dysmorphism

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Giovanni Bianchin

2015-01-01

Full Text Available We describe the novel solution adopted in positioning middle ear implant in a child with bilateral congenital aural atresia and craniofacial dysmorphism that have posed a significant challenge for the safe and correct management of deafness. A five-year-old child, affected by a rare congenital disease (Van Maldergem Syndrome, suffered from conductive hearing loss. Conventional skin-drive bone-conduction device, attached with a steel spring headband, has been applied but auditory restoration was not optimal. The decision made was to position Vibrant Soundbridge, a middle ear implant, with an original surgical application due to hypoplasia of the tympanic cavity. Intubation procedure was complicated due to child craniofacial deformities. Postoperative hearing rehabilitation involved a multidisciplinary team, showing improved social skills and language development.

Prevalence of Body Dysmorphic Disorder and Muscle Dysmorphia Among Entry-Level Military Personnel.

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Campagna, John D A; Bowsher, Barbara

2016-05-01

To determine the prevalence of body dysmorphic disorder (BDD) and muscle dysmorphia (MD) in enlisted U.S. military personnel; and secondarily, to determine supplement use and relationship with BDD and MD. A survey of advanced individual training of tri-service personnel at Fort Sam Houston, Texas, was performed combining the dysmorphia concern questionnaire, the MD symptom questionnaire, a supplement questionnaire, and demographic factors. Of the 1,320 service members approached, 1,150 (87.1%) completed the survey. The majority of participants were male, 62.8% (n = 722) and Army soldiers 59.0% (n = 679). The prevalence rate of BDD was 13.0% in males and 21.7% in females. The prevalence of MD was 12.7% in males and 4.2% in females. There was a strong correlation between having BDD and using supplements to get thinner (odds ratio 5.1; 95% confidence interval 3.4-7.8; p dysmorphias in mental health providers, primary care providers, and commanders and justifies further military specific BDD and MD research. Reprint & Copyright © 2016 Association of Military Surgeons of the U.S.

A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly

International Nuclear Information System (INIS)

Kitoh, Hiroshi

2001-01-01

We report the case of a 9-year-old Japanese boy with spondyloperipheral skeletal dysplasia associated with facial dysmorphism, pelvic abnormalities, and distinctive hands and feet. Radiographic manifestations included mild platyspondyly with posterior scalloping, small flared ilia with shallow acetabulae, mesomelic shortening of long bones, marked delay of carpal bone maturation, and brachydactyly with hypoplastic middle and terminal phalanges bilaterally in both hands and feet. There was bilateral soft tissue syndactyly of the 2nd and 3rd interdigital spaces of the hands, the 2nd interdigital space of the feet, with hypoplastic nails. The clinical and radiographic manifestations in this case appear to represent a unique type of skeletal dysplasia. (orig.)

Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18(q21.32-qter investigated by FISH and array-CGH: Case report

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Kokotas Haris

2008-11-01

Full Text Available Abstract We report on a 7 years and 4 months old Greek boy with mild microcephaly and dysmorphic facial features. He was a sociable child with maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures with long eyelashes, and hypertelorism. His ears were prominent and dysmorphic, he had a long philtrum and a high arched palate. His weight was 17 kg (25th percentile and his height 120 cm (50th percentile. High resolution chromosome analysis identified in 50% of the cells a normal male karyotype, and in 50% of the cells one chromosome 18 showed a terminal deletion from 18q21.32. Molecular cytogenetic investigation confirmed a del(18(q21.32-qter in the one chromosome 18, but furthermore revealed the presence of a duplication in q21.2 in the other chromosome 18. The case is discussed concerning comparable previously reported cases and the possible mechanisms of formation.

An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3

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Bouhouche Ahmed

2012-03-01

Full Text Available Abstract Background Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa that appears to segregate in autosomal recessive pattern. Methods All family members underwent neurological and radiological examinations. A genome wide search was conducted in this family using the ABI PRISM linkage mapping set version 2.5 from Applied Biosystems. Six candidate genes within the region linked to the disease were screened for mutations by direct sequencing. Results Evidence of linkage was obtained on chromosome 17q24.2-25.3. Analysis of recombination events and LOD score calculation suggests linkage of the responsible gene in a genetic interval of 11 Mb located between D17S789 and D17S1806 with a maximal multipoint LOD score of 2.90. Sequencing of seven candidate genes in this locus, ATP5H, FDXR, SLC25A19, MCT8, CYGB, KCNJ16 and GRIN2C, identified three missense mutations in the FDXR gene which were also found in a homozygous state in three healthy controls, suggesting that these variants are not disease-causing mutations in the family. Conclusion A novel locus for leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa has been mapped to chromosome 17q24.2-25.3 in a consanguineous Moroccan family.

Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation

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Grønborg, Sabine; Kjaergaard, Susanne; Hove, Hanne

2015-01-01

been associated with missense mutations in this group of genes. Here, we report two patients, monozygotic twins, carrying a de novo 0.32 Mb deletion of chromosome 16q24.3 including the TUBB3 gene. The patients presented with global developmental delay, mild facial dysmorphism, secondary microcephaly...

Craniofacial morphology in Muenke syndrome

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Keller, Mette Kirstine; Hermann, Nuno V; Darvann, Tron A

2007-01-01

corresponding to bone was created for each individual. The sutures were inspected for synostosis, and the degree of synostosis was assessed. Increased digital markings were recorded for both groups. Craniofacial morphology was assessed quantitatively using bony landmarks and recording of the midsagittal surface...

Cranial suture biology of the Aleutian Island inhabitants.

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Cray, James; Mooney, Mark P; Siegel, Michael I

2011-04-01

Research on cranial suture biology suggests there is biological and taxonomic information to be garnered from the heritable pattern of suture synostosis. Suture synostosis along with brain growth patterns, diet, and biomechanical forces influence phenotypic variability in cranial vault morphology. This study was designed to determine the pattern of ectocranial suture synostosis in skeletal populations from the Aleutian Islands. We address the hypothesis that ectocranial suture synostosis pattern will differ according to cranial vault shape. Ales Hrdlicka identified two phenotypes in remains excavated from the Aleutian Island. The Paleo-Aleutians, exhibiting a dolichocranic phenotype with little prognathism linked to artifacts distinguished from later inhabitants, Aleutians, who exhibited a brachycranic phenotype with a greater amount of prognathism. A total of 212 crania representing Paleo-Aleuts and Aleutian as defined by Hrdlicka were investigated for suture synostosis pattern following standard methodologies. Comparisons were performed using Guttmann analyses. Results revealed similar suture fusion patterns for the Paleo-Aleut and Aleutian, a strong anterior to posterior pattern of suture fusion for the lateral-anterior suture sites, and a pattern of early termination at the sagittal suture sites for the vault. These patterns were found to differ from that reported in the literature. Because these two populations with distinct cranial shapes exhibit similar patterns of suture synostosis it appears pattern is independent of cranial shape in these populations of Homo sapiens. These findings suggest that suture fusion patterns may be population dependent and that a standardized methodology, using suture fusion to determine age-at-death, may not be applicable to all populations. Copyright © 2011 Wiley-Liss, Inc.

The prevalence of body dysmorphic disorder among South African university students

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Antonia Dlagnikova

2015-08-01

Full Text Available Background. The prevalence of body dysmorphic disorder (BDD among South African students is explored in this article. BDD is regarded as an obsessive-compulsive-related disorder characterised by a preoccupation with one or more perceived defects or flaws in physical appearance and expressed in repetitive behaviours or mental acts as a response to the appearance concerns, causing clinically significant distress or impairment in functioning.  Objectives. To determine the prevalence of BDD among undergraduate students (N=395 at an inner-city university.  Methods. Proportionate stratified random cluster sampling was used to select the sample. The students completed a demographics survey and the Body Image Disturbance Questionnaire.  Results and conclusion. An overall prevalence rate of 5.1% was found in this study, which is similar to prevalence rates reported in existing literature among student populations. No clinically significant differences in the severity of the BDD were found on the demographic variables of gender, race or sexual orientation. However, students differed significantly in their experience of the severity of the disorder in terms of age, in that students over the age of 21 reported higher severity levels than students under the age of 21. Although the prevalence of the disorder compares with that in other countries, its severity seems to increase with age among South African students.

Cognitive-Behavioral Therapy for Adolescent Body Dysmorphic Disorder: A Pilot Study.

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Greenberg, Jennifer L; Mothi, Suraj Sarvode; Wilhelm, Sabine

2016-03-01

Body dysmorphic disorder (BDD) is a relatively common and severe disorder that typically onsets in adolescence, but often goes unrecognized. Despite BDD's severity and early onset, treatment outcome research on adolescent BDD is scarce. Cognitive-behavioral therapy is the gold-standard psychosocial treatment for BDD in adults and has shown promise in adolescents. The current study examined the development and testing of a new CBT for adolescents with BDD. We tested feasibility, acceptability, and treatment outcome in a sample of 13 adolescents (mean age 15.23years, range: 13-17) with primary BDD. Treatment was delivered in 12-22 weekly individual sessions. Standardized clinician ratings and self-report measures were used to assess BDD and related symptoms pre- and posttreatment and at 3- and 6-months follow-up. At posttreatment, BDD and related symptoms (e.g., insight, mood) were significantly improved. Scores on the Yale-Brown Obsessive Compulsive Scale for BDD indicated a 50% (intent-to-treat) and 68% (completer) improvement in BDD symptoms. Seventy-five percent of adolescents who started treatment and 100% of completers were considered treatment responders. Treatment gains were maintained at follow-up. High patient satisfaction ratings and patient feedback indicated that treatment was acceptable. This represents the largest study of a psychosocial treatment for adolescent BDD. Copyright © 2015. Published by Elsevier Ltd.

Relationship between self-discrepancy and worries about penis size in men with body dysmorphic disorder.

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Veale, David; Miles, Sarah; Read, Julie; Bramley, Sally; Troglia, Andrea; Carmona, Lina; Fiorito, Chiara; Wells, Hannah; Wylie, Kevan; Muir, Gordon

2016-06-01

We explored self-discrepancy in men with body dysmorphic disorder (BDD) concerned about penis size, men without BDD but anxious about penis size, and controls. Men with BDD (n=26) were compared to those with small penis anxiety (SPA; n=31) and controls (n=33), objectively (by measuring) and investigating self-discrepancy: actual size, ideal size, and size they felt they should be according to self and other. Most men under-estimated their penis size, with the BDD group showing the greatest discrepancy between perceived and ideal size. The SPA group showed a larger discrepancy than controls. This was replicated for the perceptions of others, suggesting the BDD group internalised the belief that they should have a larger penis size. There was a significant correlation between symptoms of BDD and this discrepancy. This self-actual and self-ideal/self-should discrepancy and the role of comparing could be targeted in therapy. Copyright © 2016. Published by Elsevier Ltd.

An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

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Weigel Corina

2005-04-01

Full Text Available Abstract Background Phenylketonuria is an inborn error of amino acid metabolism which can cause severe damage to the patient or, in the case of maternal phenylketonuria, to the foetus. The maternal phenylketonuria syndrome is caused by high blood phenylalanine concentrations during pregnancy and presents with serious foetal anomalies, especially congenital heart disease, microcephaly and mental retardation. Case presentation We report on an affected Albanian woman and her seven children. The mother is affected by phenylketonuria and is a compound heterozygote for two pathogenetic mutations, L48S and P281L. The diagnosis was only made in the context of her children, all of whom have at least one severe organic malformation. The first child, 17 years old, has a double-chambered right ventricle, vertebral malformations and epilepsy. She is also mentally retarded, microcephalic, exhibits facial dysmorphies and small stature. The second child, a girl 15 years of age, has severe mental retardation with microcephaly, small stature and various dysmorphic features. The next sibling, a boy, died of tetralogy of Fallot at the age of three months. He also had multiple vertebral and rib malformations. The subsequent girl, now eleven years old, has mental retardation, microcephaly and epilepsy along with facial dysmorphy, partial deafness and short stature. The eight-year-old child is slightly mentally retarded and microcephalic. A five-year-old boy was a premature, dystrophic baby and exhibits mental retardation, dysmorphic facial features, brachydactyly and clinodactyly of the fifth finger on both hands. Following a miscarriage, our index case, the youngest child at two years of age, is microcephalic and mentally retarded and shows minor facial anomalies. All children exhibit features of phenylalanine embryopathy caused by maternal phenylketonuria because the mother had not been diagnosed earlier and, therefore, never received any diet. Conclusion This is

Imagery Rescripting for Body Dysmorphic Disorder: A Multiple-Baseline Single-Case Experimental Design.

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Willson, Rob; Veale, David; Freeston, Mark

2016-03-01

Individuals with body dysmorphic disorder (BDD) often experience negative distorted images of their appearance, and research suggests these may be linked to memories of adverse events such as bullying or teasing. This study evaluates imagery rescripting (ImR) as an intervention for BDD. In this article, we present a multiple-baseline single-case experimental design testing imagery rescripting as a brief, stand-alone intervention, with six individuals with BDD that related to aversive memories. The impact of the intervention was assessed by self-reported daily measures of symptom severity (preoccupation with appearance, appearance-related checking behaviors, appearance-related distress, and strength of belief that their main problem is their appearance) and standardized clinician ratings of BDD severity (Yale-Brown Obsessive Compulsive Scale modified for BDD). Four out of six of the participants responded positively to the intervention, with clinically meaningful improvement in symptomatology. Overall response was rapid; improvements began within the first week post-ImR intervention. From a small sample it is cautiously concluded that imagery rescripting may show promise as a module in cognitive-behavioral therapy for BDD, and is worthy of further investigation. Copyright © 2015. Published by Elsevier Ltd.

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

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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.

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

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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.

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

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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.

Automatic and strategic measures as predictors of mirror gazing among individuals with body dysmorphic disorder symptoms.

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Clerkin, Elise M; Teachman, Bethany A

2009-08-01

The current study tests cognitive-behavioral models of body dysmorphic disorder (BDD) by examining the relationship between cognitive biases and correlates of mirror gazing. To provide a more comprehensive picture, we investigated both relatively strategic (i.e., available for conscious introspection) and automatic (i.e., outside conscious control) measures of cognitive biases in a sample with either high (n = 32) or low (n = 31) BDD symptoms. Specifically, we examined the extent that (1) explicit interpretations tied to appearance, as well as (2) automatic associations and (3) strategic evaluations of the importance of attractiveness predict anxiety and avoidance associated with mirror gazing. Results indicated that interpretations tied to appearance uniquely predicted self-reported desire to avoid, whereas strategic evaluations of appearance uniquely predicted peak anxiety associated with mirror gazing, and automatic appearance associations uniquely predicted behavioral avoidance. These results offer considerable support for cognitive models of BDD, and suggest a dissociation between automatic and strategic measures.

Automatic and Strategic Measures as Predictors of Mirror Gazing Among Individuals with Body Dysmorphic Disorder Symptoms

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Clerkin, Elise M.; Teachman, Bethany A.

2011-01-01

The current study tests cognitive-behavioral models of body dysmorphic disorder (BDD) by examining the relationship between cognitive biases and correlates of mirror gazing. To provide a more comprehensive picture, we investigated both relatively strategic (i.e., available for conscious introspection) and automatic (i.e., outside conscious control) measures of cognitive biases in a sample with either high (n=32) or low (n=31) BDD symptoms. Specifically, we examined the extent that 1) explicit interpretations tied to appearance, as well as 2) automatic associations and 3) strategic evaluations of the importance of attractiveness predict anxiety and avoidance associated with mirror gazing. Results indicated that interpretations tied to appearance uniquely predicted self-reported desire to avoid, while strategic evaluations of appearance uniquely predicted peak anxiety associated with mirror gazing, and automatic appearance associations uniquely predicted behavioral avoidance. These results offer considerable support for cognitive models of BDD, and suggest a dissociation between automatic and strategic measures. PMID:19684496

Reduced striatal dopamine D2/3 receptor availability in Body Dysmorphic Disorder.

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Vulink, Nienke C; Planting, Robin S; Figee, Martijn; Booij, Jan; Denys, Damiaan

2016-02-01

Though the dopaminergic system is implicated in Obsessive Compulsive and Related Disorders (OCRD), the dopaminergic system has never been investigated in-vivo in Body Dysmorphic Disorder (BDD). In line with consistent findings of reduced striatal dopamine D2/3 receptor availability in Obsessive Compulsive Disorder (OCD), we hypothesized that the dopamine D2/3 receptor availability in the striatum will be lower in patients with BDD in comparison to healthy subjects. Striatal dopamine D2/3 receptor Binding Potential (BPND) was examined in 12 drug-free BDD patients and 12 control subjects pairwise matched by age, sex, and handedness using [(123)I]iodobenzamide Single Photon Emission Computed Tomography (SPECT; bolus/constant infusion technique). Regions of interest were the caudate nucleus and the putamen. BPND was calculated as the ratio of specific striatal to binding in the occipital cortex (representing nonspecific binding). Compared to controls, dopamine D2/3 receptor BPND was significantly lower in BDD, both in the putamen (p=0.017) and caudate nucleus (p=0.022). This study provides the first evidence of a disturbed dopaminergic system in BDD patients. Although previously BDD was classified as a separate disorder (somatoform disorder), our findings give pathophysiological support for the recent reclassification of BDD to the OCRD in DSM-5. Copyright © 2015 Elsevier B.V. and ECNP. All rights reserved.

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

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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.

Prenatal diagnosis of a 1.6-Mb 4p16.3 interstitial microdeletion encompassing FGFRL1 and TACC3 associated with bilateral cleft lip and palate of Wolf-Hirschhorn syndrome facial dysmorphism and short long bones

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Chih-Ping Chen

2017-12-01

Conclusion: Haploinsufficiency of FGFRL1 and TACC3 at 4p16.3 can be associated with bilateral cleft lip and palate of WHS facial dysmorphism and short long bones. Prenatal diagnosis of facial cleft with short long bones should raise a suspicion of chromosome microdeletion syndromes.

Sexual Functioning and Behavior of Men with Body Dysmorphic Disorder Concerning Penis Size Compared with Men Anxious about Penis Size and with Controls: A Cohort Study

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David Veale, MD, FRCPsych

2015-09-01

Conclusion: Men with BDD are more likely to have erectile dysfunction and less satisfaction with intercourse than controls but maintain their libido. Further research is required to develop and evaluate a psychological intervention for such men with adequate outcome measures. Veale D, Miles S, Read J, Troglia A, Wylie K, and Muir G. Sexual functioning and behavior of men with body dysmorphic disorder concerning penis size compared with men anxious about penis size and with controls: A cohort study. Sex Med 2015;3:147–155.

Sexual Functioning and Behavior of Men with Body Dysmorphic Disorder Concerning Penis Size Compared with Men Anxious about Penis Size and with Controls: A Cohort Study

OpenAIRE

Veale, David; Miles, Sarah; Read, Julie; Troglia, Andrea; Wylie, Kevan; Muir, Gordon

2015-01-01

Introduction: Little is known about the sexual functioning and behavior of men anxious about the size of their penis and the means that they might use to try to alter the size of their penis. Aim: To compare sexual functioning and behavior in men with body dysmorphic disorder (BDD) concerning penis size and in men with small penis anxiety (SPA without BDD) and in a control group of men who do not have any concerns. Methods: An opportunistic sample of 90 men from the community were recru...

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

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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

Modifying interpretation biases in body dysmorphic disorder: Evaluation of a brief computerized treatment.

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Summers, Berta J; Cougle, Jesse R

2016-12-01

Individuals meeting diagnostic criteria for body dysmorphic disorder (BDD; N = 40) were enrolled in a randomized, four-session trial comparing interpretation bias modification (IBM) training designed to target social evaluation- and appearance-related interpretation biases with a placebo control training condition (PC). Sessions took place over the course of two weeks (two sessions per week). Analyses indicated that, relative to the PC condition, IBM led to a significant increase in benign biases and reduction in threat biases at post-treatment. IBM also led to greater reductions in BDD symptoms compared to PC, though this effect was present at high but not low levels of pre-treatment BDD symptoms. Additionally, compared to PC, IBM led to lower urge to check and lower fear in response to an in vivo appearance-related stressor (having their picture taken from different angles), though the latter effect was present only among those reporting elevated fear at pre-treatment. The effects of treatment on interpretation biases and BDD symptoms were largely maintained at a one-month follow-up assessment. Moderated-mediation analyses showed that change in threat bias mediated the effect of condition on post-treatment symptoms for individuals high in pre-treatment BDD symptoms. The current study provides preliminary support for the efficacy of IBM for BDD. Copyright © 2016 Elsevier Ltd. All rights reserved.

Ellipsoid analysis of calvarial shape.

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Jacobsen, Petra A; Becker, Devra; Govier, Daniel P; Krantz, Steven G; Kane, Alex

2009-09-01

The purpose of this research was to develop a novel quantitative method of describing calvarial shape by using ellipsoid geometry. The pilot application of Ellipsoid Analysis was to compare calvarial form among individuals with untreated unilateral coronal synostosis, metopic synostosis, and sagittal synostosis and normal subjects. The frontal, parietal, and occipital bones of 10 preoperative patients for each of the four study groups were bilaterally segmented into six regions using three-dimensional skull reconstructions generated by ANALYZE imaging software from high-resolution computed tomography scans. Points along each segment were extracted and manipulated using a MATLAB-based program. The points were fit to the least-squares nearest ellipsoid. Relationships between the six resultant right and left frontal, parietal, and occipital ellipsoidal centroids (FR, FL, PR, PL, OR, and OL, respectively) were tested for association with a synostotic group. Results from the pilot study showed meaningful differences between length ratio, angular, and centroid distance relationships among synostotic groups. The most substantial difference was exhibited in the centroid distance PL-PR between patients with sagittal synostosis and metopic synostosis. The measures most commonly significant were centroid distances FL-PR and FL-PL and the angle OR-FR-PR. Derived centroid relationships were reproducible. Ellipsoid Analysis may offer a more refined approach to quantitative analysis of cranial shape. Symmetric and asymmetric forms can be compared directly. Relevant shape information between traditional landmarks is characterized. These techniques may have wider applicability in quantifying craniofacial morphology with increase in both specificity and general applicability over current methods.

High-Dose Glycine Treatment of Refractory Obsessive-Compulsive Disorder and Body Dysmorphic Disorder in a 5-Year Period

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W. Louis Cleveland

2009-01-01

Full Text Available This paper describes an individual who was diagnosed with obsessive-compulsive disorder (OCD and body dysmorphic disorder (BDD at age 17 when education was discontinued. By age 19, he was housebound without social contacts except for parents. Adequate trials of three selective serotonin reuptake inhibitors, two with atypical neuroleptics, were ineffective. Major exacerbations following ear infections involving Group A -hemolytic streptococcus at ages 19 and 20 led to intravenous immune globulin therapy, which was also ineffective. At age 22, another severe exacerbation followed antibiotic treatment for H. pylori. This led to a hypothesis that postulates deficient signal transduction by the N-methyl-D-aspartate receptor (NMDAR. Treatment with glycine, an NMDAR coagonist, over 5 years led to robust reduction of OCD/BDD signs and symptoms except for partial relapses during treatment cessation. Education and social life were resumed and evidence suggests improved cognition. Our findings motivate further study of glycine treatment of OCD and BDD.

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

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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.

Body dysmorphic disorder: Latest neuroanatomical and neuropsychological findings.

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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

Long-Term Outcomes of Cognitive-Behavioral Therapy for Adolescent Body Dysmorphic Disorder.

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

2017-07-01

Emerging evidence suggests that cognitive-behavioral therapy (CBT) is an efficacious treatment for adolescent body dysmorphic disorder (BDD) in the short term, but longer-term outcomes remain unknown. The current study aimed to follow up a group of adolescents who had originally participated in a randomized controlled trial of CBT for BDD to determine whether treatment gains were maintained. Twenty-six adolescents (mean age = 16.2, SD = 1.6) with a primary diagnosis of BDD received a course of developmentally tailored CBT and were followed up over 12 months. Participants were assessed at baseline, midtreatment, posttreatment, 2-, 6-, and 12-month follow-up. The primary outcome measure was the clinician-rated Yale-Brown Obsessive-Compulsive Scale Modified for BDD. Secondary outcomes included measures of insight, depression, quality of life, and global functioning. BDD symptoms decreased significantly from pre- to posttreatment and remained stable over the 12-month follow-up. At this time point, 50% of participants were classified as responders and 23% as remitters. Participants remained significantly improved on all secondary outcomes at 12-month follow-up. Neither baseline insight nor baseline depression predicted long-term outcomes. The positive effects of CBT appear to be durable up to 12-month follow-up. However, the majority of patients remained symptomatic and vulnerable to a range of risks at 12-month follow-up, indicating that longer-term monitoring is advisable in this population. Future research should focus on enhancing the efficacy of CBT in order to improve long-term outcomes. Copyright © 2017. Published by Elsevier Ltd.

The classification of body dysmorphic disorder symptoms in male and female adolescents.

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

2018-01-01

Body dysmorphic disorder (BDD) was categorised in DSM-5 within the newly created 'obsessive-compulsive and related disorders' chapter, however this classification remains subject to debate. Confirmatory factor analysis was used to test competing models of the co-occurrence of symptoms of BDD, obsessive-compulsive disorder, unipolar depression, anxiety, and eating disorders in a community sample of adolescents, and to explore potential sex differences in these models. Self-report questionnaires assessing disorder symptoms were completed by 3149 Australian adolescents. The fit of correlated factor models was calculated separately in males and females, and measurement invariance testing compared parameters of the best-fitting model between males and females. All theoretical models of the classification of BDD had poor fit to the data. Good fit was found for a novel model where BDD symptoms formed a distinct latent factor, correlated with affective disorder and eating disorder latent factors. Metric non-invariance was found between males and females, and the majority of factor loadings differed between males and females. Correlations between some latent factors also differed by sex. Only cross-sectional data were collected, and the study did not assess a broad range of DSM-5 defined eating disorder symptoms or other disorders in the DSM-5 obsessive-compulsive and related disorders chapter. This study is the first to statistically evaluate competing models of BDD classification. The findings highlight the unique features of BDD and its associations with affective and eating disorders. Future studies examining the classification of BDD should consider developmental and sex differences in their models. Copyright © 2017. Published by Elsevier B.V.

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

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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.

Is Body Dysmorphic Disorder Associated with Abnormal Bodily Self-Awareness? A Study Using the Rubber Hand Illusion

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Kaplan, Ryan A.; Enticott, Peter G.; Hohwy, Jakob; Castle, David J.; Rossell, Susan L.

2014-01-01

Evidence from past research suggests that behaviours and characteristics related to body dissatisfaction may be associated with greater instability of perceptual body image, possibly due to problems in the integration of body-related multisensory information. We investigated whether people with body dysmorphic disorder (BDD), a condition characterised by body image disturbances, demonstrated enhanced susceptibility to the rubber hand illusion (RHI), which arises as a result of multisensory integration processes when a rubber hand and the participant's hidden real hand are stimulated in synchrony. Overall, differences in RHI experience between the BDD group and healthy and schizophrenia control groups (n = 17 in each) were not significant. RHI strength, however, was positively associated with body dissatisfaction and related tendencies. For the healthy control group, proprioceptive drift towards the rubber hand was observed following synchronous but not asynchronous stimulation, a typical pattern when inducing the RHI. Similar drifts in proprioceptive awareness occurred for the BDD group irrespective of whether stimulation was synchronous or not. These results are discussed in terms of possible abnormalities in visual processing and multisensory integration among people with BDD. PMID:24925079

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

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

2015-01-01

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

Stress exposure and generation: A conjoint longitudinal model of body dysmorphic symptoms, peer acceptance, popularity, and victimization.

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Webb, Haley J; Zimmer-Gembeck, Melanie J; Mastro, Shawna

2016-09-01

This study examined the bidirectional (conjoint) longitudinal pathways linking adolescents' body dysmorphic disorder (BDD) symptoms with self- and peer-reported social functioning. Participants were 367 Australian students (45.5% boys, mean age=12.01 years) who participated in two waves of a longitudinal study with a 12-month lag between assessments. Participants self-reported their symptoms characteristic of BDD, and perception of peer acceptance. Classmates reported who was popular and victimized in their grade, and rated their liking (acceptance) of their classmates. In support of both stress exposure and stress generation models, T1 victimization was significantly associated with more symptoms characteristic of BDD at T2 relative to T1, and higher symptom level at T1 was associated with lower perceptions of peer acceptance at T2 relative to T1. These results support the hypothesized bidirectional model, whereby adverse social experiences negatively impact symptoms characteristic of BDD over time, and symptoms also exacerbate low perceptions of peer-acceptance. Copyright © 2016 Elsevier Ltd. All rights reserved.

Is body dysmorphic disorder associated with abnormal bodily self-awareness? A study using the rubber hand illusion.

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Kaplan, Ryan A; Enticott, Peter G; Hohwy, Jakob; Castle, David J; Rossell, Susan L

2014-01-01

Evidence from past research suggests that behaviours and characteristics related to body dissatisfaction may be associated with greater instability of perceptual body image, possibly due to problems in the integration of body-related multisensory information. We investigated whether people with body dysmorphic disorder (BDD), a condition characterised by body image disturbances, demonstrated enhanced susceptibility to the rubber hand illusion (RHI), which arises as a result of multisensory integration processes when a rubber hand and the participant's hidden real hand are stimulated in synchrony. Overall, differences in RHI experience between the BDD group and healthy and schizophrenia control groups (n = 17 in each) were not significant. RHI strength, however, was positively associated with body dissatisfaction and related tendencies. For the healthy control group, proprioceptive drift towards the rubber hand was observed following synchronous but not asynchronous stimulation, a typical pattern when inducing the RHI. Similar drifts in proprioceptive awareness occurred for the BDD group irrespective of whether stimulation was synchronous or not. These results are discussed in terms of possible abnormalities in visual processing and multisensory integration among people with BDD.

Impairment in local and global processing and set-shifting in body dysmorphic disorder

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Kerwin, Lauren; Hovav, Sarit; Helleman, Gerhard; Feusner, Jamie D.

2014-01-01

Body dysmorphic disorder (BDD) is characterized by distressing and often debilitating preoccupations with misperceived defects in appearance. Research suggests that aberrant visual processing may contribute to these misperceptions. This study used two tasks to probe global and local visual processing as well as set shifting in individuals with BDD. Eighteen unmedicated individuals with BDD and 17 non-clinical controls completed two global-local tasks. The embedded figures task requires participants to determine which of three complex figures contained a simpler figure embedded within it. The Navon task utilizes incongruent stimuli comprised of a large letter (global level) made up of smaller letters (local level). The outcome measures were response time and accuracy rate. On the embedded figures task, BDD individuals were slower and less accurate than controls. On the Navon task, BDD individuals processed both global and local stimuli slower and less accurately than controls, and there was a further decrement in performance when shifting attention between the different levels of stimuli. Worse insight correlated with poorer performance on both tasks. Taken together, these results suggest abnormal global and local processing for non-appearance related stimuli among BDD individuals, in addition to evidence of poor set-shifting abilities. Moreover, these abnormalities appear to relate to the important clinical variable of poor insight. Further research is needed to explore these abnormalities and elucidate their possible role in the development and/or persistence of BDD symptoms. PMID:24972487

Three Supernumerary Marker Chromosomes in a Patient with Developmental Delay, Mental Retardation, and Dysmorphic Features

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Jie Hu

2011-01-01

Full Text Available We characterized three supernumerary marker chromosomes (SMCs simultaneously present in a 2-year- and 10-month-old male patient with mental retardation and dysmorphic features. Peripheral blood chromosome analysis revealed two to three SMCs in 25/26 cells analyzed. The remaining one cell had one SMC. Microarray comparative genomic hybridization (aCGH showed mosaicism for gains of 5q35.3, 15q11.2q13.3, and 18p11.21q11.1 regions. All three gains contain multiple OMIM genes. FISH studies indicated that one of the SMCs is a dicentric ring 15 with two copies of the 15q11.2q13.3 region including SNRPN/UBE3A and two copies of the 5q35.3 region. One of the der(18s contains the 18 centromere and 18p11.2 regions, while the other der(18 has a signal for the 18 centromere only. The phenotype of the patient is compared with that of patients with tetrasomy 15q11.2q13.3, trisomy 5q35.3, and trisomy 18p11.2. Our study demonstrates that aCGH and FISH analyses are powerful tools, which complement the conventional cytogenetic analysis for the identification of SMCs.

Cognitive Impairment and Brain Imaging Characteristics of Patients with Congenital Cataracts, Facial Dysmorphism, Neuropathy Syndrome

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Teodora Chamova

2015-01-01

Full Text Available Congenital cataracts, facial dysmorphism, neuropathy (CCFDN syndrome is a complex autosomal recessive multisystem disorder. The aim of the current study is to evaluate the degree of cognitive impairment in a cohort of 22 CCFDN patients and its correlation with patients’ age, motor disability, ataxia, and neuroimaging changes. Twenty-two patients with genetically confirmed diagnosis of CCFDN underwent a detailed neurological examination. Verbal and nonverbal intelligence, memory, executive functions, and verbal fluency wеre assessed in all the patients aged 4 to 47 years. Brain magnetic resonance imaging was performed in 20 affected patients. Eighteen affected were classified as having mild intellectual deficit, whereas 4 had borderline intelligence. In all psychometric tests, evaluating different cognitive domains, CCFDN patients had statistically significant lower scores when compared to the healthy control group. All cognitive domains seemed equally affected. The main abnormalities on brain MRI found in 19/20 patients included diffuse cerebral atrophy, enlargement of the lateral ventricles, and focal lesions in the subcortical white matter, different in number and size, consistent with demyelination more pronounced in the older CCFDN patients. The correlation analysis of the structural brain changes and the cognitive impairment found a statistically significant correlation only between the impairment of short-term verbal memory and the MRI changes.

Radiological assessment of skull base changes in children with syndromic craniosynostosis: role of ''minor'' sutures

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Calandrelli, Rosalinda; D'Apolito, Gabriella; Gaudino, Simona; Stefanetti, Mariangela; Colosimo, Cesare; Massimi, Luca; Di Rocco, Concezio

2014-01-01

This study aims to identify the premature synostosis of ''major'' and ''minor'' sutures of the four ''sutural arches'' of the skull and to perform a morphometric analysis in children with syndromic craniosynostosis in order to evaluate changes in the skull base linked with premature suture synostosis. We reviewed multiplanar high-resolution CT images, implemented with 3D reconstructions, from 18 patients with complex syndromic craniosynostosis and compared them with 18 age-matched healthy subjects. We assessed the calvarial sutures and their extension to the skull base, and then we correlated specific types of synostosis with the size, shape and symmetry of the cranial fossae. We found a marked asymmetry of the skull base growth in all patients. The synostotic involvement around the coronal ring caused a reduction in the growth of the anterior and middle fossae. The size of the posterior cranial fossa was related not only to ''major'' but also to ''minor'' suture synostosis of the lambdoid and parieto-squamosal arches. Changes in the skull base and craniofacial axis symmetry are due to structural and functional relationships between ''major'' and ''minor'' skull sutures, suggesting a structural and functional relationship between the neurocranium and basicranium. The early recognition of prematurely closed skull base sutures may help clinicians and neurosurgeons to establish correct therapeutic approaches. (orig.)

Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome

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Kristen Dilzell

2015-01-01

Full Text Available This case report concerns a 16-year-old girl with a 9.92 Mb, heterozygous interstitial chromosome deletion at 7q33-q35, identified using array comparative genomic hybridization. The patient has dysmorphic facial features, intellectual disability, recurrent infections, self-injurious behavior, obesity, and recent onset of hemihypertrophy. This patient has overlapping features with previously reported individuals who have similar deletions spanning the 7q32-q36 region. It has been difficult to describe an interstitial 7q deletion syndrome due to variations in the sizes and regions in the few patients reported in the literature. This case contributes to the further characterization of an interstitial distal 7q deletion syndrome.

Anxiety and Shame as Risk Factors for Depression, Suicidality, and Functional Impairment in Body Dysmorphic Disorder and Obsessive Compulsive Disorder.

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Weingarden, Hilary; Renshaw, Keith D; Wilhelm, Sabine; Tangney, June P; DiMauro, Jennifer

2016-11-01

Body dysmorphic disorder (BDD) and obsessive compulsive disorder (OCD) are associated with elevated depression, suicidality, functional impairment, and days housebound, yet little research has identified risk factors for these outcomes. Using path analysis, the present study examined anxiety and shame as risk factors for these outcomes across Internet-recruited self-report groups (BDD [n = 114], OCD [n = 114], and healthy control [HC; n = 133]). Paths from anxiety and shame to outcomes were similar and mostly significant across BDD and OCD, compared to non-significant paths for HCs, with one exception: the path from shame to depression was significant in the BDD group (b = 0.32) but non-significant in the OCD group (b = 0.07). Findings underscore similarities in BDD and OCD, supporting their reclassification into the same Obsessive Compulsive Related Disorders category. Results emphasize the importance of targeting shame, in addition to anxiety, in treatments for BDD and OCD.

Modular cognitive-behavioral therapy for body dysmorphic disorder: a randomized controlled trial.

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Wilhelm, Sabine; Phillips, Katharine A; Didie, Elizabeth; Buhlmann, Ulrike; Greenberg, Jennifer L; Fama, Jeanne M; Keshaviah, Aparna; Steketee, Gail

2014-05-01

There are few effective treatments for body dysmorphic disorder (BDD) and a pressing need to develop such treatments. We examined the feasibility, acceptability, and efficacy of a manualized modular cognitive-behavioral therapy for BDD (CBT-BDD). CBT-BDD utilizes core elements relevant to all BDD patients (e.g., exposure, response prevention, perceptual retraining) and optional modules to address specific symptoms (e.g., surgery seeking). Thirty-six adults with BDD were randomized to 22 sessions of immediate individual CBT-BDD over 24 weeks (n=17) or to a 12-week waitlist (n=19). The Yale-Brown Obsessive-Compulsive Scale Modified for BDD (BDD-YBOCS), Brown Assessment of Beliefs Scale, and Beck Depression Inventory-II were completed pretreatment, monthly, posttreatment, and at 3- and 6-month follow-up. The Sheehan Disability Scale and Client Satisfaction Inventory (CSI) were also administered. Response to treatment was defined as ≥30% reduction in BDD-YBOCS total from baseline. By week 12, 50% of participants receiving immediate CBT-BDD achieved response versus 12% of waitlisted participants (p=0.026). By posttreatment, 81% of all participants (immediate CBT-BDD plus waitlisted patients subsequently treated with CBT-BDD) met responder criteria. While no significant group differences in BDD symptom reduction emerged by Week 12, by posttreatment CBT-BDD resulted in significant decreases in BDD-YBOCS total over time (d=2.1, p<0.0001), with gains maintained during follow-up. Depression, insight, and disability also significantly improved. Patient satisfaction was high, with a mean CSI score of 87.3% (SD=12.8%) at posttreatment. CBT-BDD appears to be a feasible, acceptable, and efficacious treatment that warrants more rigorous investigation. Copyright © 2014. Published by Elsevier Ltd.

Degree connectivity in body dysmorphic disorder and relationships with obsessive and compulsive symptoms.

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Beucke, Jan C; Sepulcre, Jorge; Buhlmann, Ulrike; Kathmann, Norbert; Moody, Teena; Feusner, Jamie D

2016-10-01

Individuals with body dysmorphic disorder (BDD) and obsessive-compulsive disorder (OCD) are categorized within the same major diagnostic group and both show regional brain hyperactivity in the orbitofrontal cortex (OFC) and the basal ganglia during symptom provocation. While recent studies revealed that degree connectivity of these areas is abnormally high in OCD and positively correlates with symptom severity, no study has investigated degree connectivity in BDD. We used functional magnetic resonance imaging (fMRI) to compare the local and distant degree of functional connectivity in all brain areas between 28 unmedicated BDD participants and 28 demographically matched healthy controls during a face-processing task. Correlational analyses tested for associations between degree connectivity and symptom severity assessed by the BDD version of the Yale-Brown obsessive-compulsive scale (BDD-Y-BOCS). Reduced local amygdalar connectivity was found in participants with BDD. No differences in distant connectivity were found. BDD-Y-BOCS scores significantly correlated with the local connectivity of the posterior-lateral OFC, and distant connectivity of the posterior-lateral and post-central OFC, respectively. These findings represent preliminary evidence that individuals with BDD exhibit brain-behavioral associations related to obsessive thoughts and compulsive behaviors that are highly similar to correlations previously found in OCD, further underscoring their related pathophysiology. This relationship could be further elucidated through investigation of resting-state functional connectivity in BDD, ideally in direct comparison with OCD and other obsessive-compulsive and related disorders. Copyright © 2016 Elsevier B.V. and ECNP. All rights reserved.

Aberrant Dynamic Connectivity for Fear Processing in Anorexia Nervosa and Body Dysmorphic Disorder

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D. Rangaprakash

2018-06-01

Full Text Available Anorexia nervosa (AN and body dysmorphic disorder (BDD share distorted perceptions of appearance with extreme negative emotion, yet the neural phenotypes of emotion processing remain underexplored in them, and they have never been directly compared. We sought to determine if shared and disorder-specific fronto-limbic connectivity patterns characterize these disorders. FMRI data was obtained from three unmedicated groups: BDD (n = 32, weight-restored AN (n = 25, and healthy controls (HC; n = 37, while they viewed fearful faces and rated their own degree of fearfulness in response. We performed dynamic effective connectivity modeling with medial prefrontal cortex (mPFC, rostral anterior cingulate cortex (rACC, and amygdala as regions-of-interest (ROI, and assessed associations between connectivity and clinical variables. HCs exhibited significant within-group bidirectional mPFC-amygdala connectivity, which increased across the blocks, whereas BDD participants exhibited only significant mPFC-to-amygdala connectivity (P < 0.05, family-wise error corrected. In contrast, participants with AN lacked significant prefrontal-amygdala connectivity in either direction. AN showed significantly weaker mPFC-to-amygdala connectivity compared to HCs (P = 0.0015 and BDD (P = 0.0050. The mPFC-to-amygdala connectivity was associated with greater subjective fear ratings (R2 = 0.11, P = 0.0016, eating disorder symptoms (R2 = 0.33, P = 0.0029, and anxiety (R2 = 0.29, P = 0.0055 intensity scores. Our findings, which suggest a complex nosological relationship, have implications for understanding emotion regulation circuitry in these related psychiatric disorders, and may have relevance for current and novel therapeutic approaches.

Prevalence of body dysmorphic disorder on a psychiatric inpatient ward and the value of a screening question.

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Veale, David; Akyüz, Elvan U; Hodsoll, John

2015-12-15

The aim of this study was to estimate the prevalence of body dysmorphic disorder (BDD) on an inpatient ward in the UK with a larger sample than previously studied and to investigate the value of a simple screening question during an assessment interview. Four hundred and thirty two consecutive admissions were screened for BDD on an adult psychiatric ward over a period of 13 months. Those who screened positive had a structured diagnostic interview for BDD. The prevalence of BDD was estimated to be 5.8% (C.I. 3.6-8.1%). Our screening question had a slightly low specificity (76.6%) for detecting BDD. The strength of this study was a larger sample size and narrower confidence interval than previous studies. The study adds to previous observations that BDD is poorly identified in psychiatric inpatients. BDD was identified predominantly in those presenting with depression, substance misuse or an anxiety disorder. The screening question could be improved by excluding those with weight or shape concerns. Missing the diagnosis is likely to lead to inappropriate treatment. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Is body dysmorphic disorder associated with abnormal bodily self-awareness? A study using the rubber hand illusion.

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Ryan A Kaplan

Full Text Available Evidence from past research suggests that behaviours and characteristics related to body dissatisfaction may be associated with greater instability of perceptual body image, possibly due to problems in the integration of body-related multisensory information. We investigated whether people with body dysmorphic disorder (BDD, a condition characterised by body image disturbances, demonstrated enhanced susceptibility to the rubber hand illusion (RHI, which arises as a result of multisensory integration processes when a rubber hand and the participant's hidden real hand are stimulated in synchrony. Overall, differences in RHI experience between the BDD group and healthy and schizophrenia control groups (n = 17 in each were not significant. RHI strength, however, was positively associated with body dissatisfaction and related tendencies. For the healthy control group, proprioceptive drift towards the rubber hand was observed following synchronous but not asynchronous stimulation, a typical pattern when inducing the RHI. Similar drifts in proprioceptive awareness occurred for the BDD group irrespective of whether stimulation was synchronous or not. These results are discussed in terms of possible abnormalities in visual processing and multisensory integration among people with BDD.

The presence, predictive utility, and clinical significance of body dysmorphic symptoms in women with eating disorders

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2013-01-01

Background Both eating disorders (EDs) and body dysmorphic disorder (BDD) are disorders of body image. This study aimed to assess the presence, predictive utility, and impact of clinical features commonly associated with BDD in women with EDs. Methods Participants recruited from two non-clinical cohorts of women, symptomatic and asymptomatic of EDs, completed a survey on ED (EDE-Q) and BDD (BDDE-SR) psychopathology, psychological distress (K-10), and quality of life (SF-12). Results A strong correlation was observed between the total BDDE-SR and the global EDE-Q scores (r = 0.79, p 0.05) measured appearance checking, reassurance-seeking, camouflaging, comparison-making, and social avoidance. In addition to these behaviors, inspection of sensitivity (Se) and specificity (Sp) revealed that BDDE-SR items measuring preoccupation and dissatisfaction with appearance were most predictive of ED cases (Se and Sp > 0.60). Higher total BDDE-SR scores were associated with greater distress on the K-10 and poorer quality of life on the SF-12 (all p < 0.01). Conclusions Clinical features central to the model of BDD are common in, predictive of, and associated with impairment in women with EDs. Practice implications are that these features be included in the assessment and treatment of EDs. PMID:24999401

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

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Gold, Wendy A; Sobreira, Nara; Wiame, Elsa; Marbaix, Alexandre; Van Schaftingen, Emile; Franzka, Patricia; Riley, Lisa G; Worgan, Lisa; Hübner, Christian A; Christodoulou, John; Adès, Lesley C

2017-08-01

GMPPA encodes the GDP-mannose pyrophosphorylase A protein (GMPPA). The function of GMPPA is not well defined, however it is a homolog of GMPPB which catalyzes the reaction that converts mannose-1-phosphate and guanosine-5'-triphosphate to GDP-mannose. Previously, biallelic mutations in GMPPA were reported to cause a disorder characterized by achalasia, alacrima, neurological deficits, and intellectual disability. In this study, we report a female proband with achalasia, alacrima, hypohydrosis, apparent intellectual disability, seizures, microcephaly, esotropia, and craniofacial dysmorphism. Exome sequencing identified a previously unreported homozygous c.853+1G>A variant in GMPPA in the proband and her affected sister. Their unaffected parents were heterozygous, and unaffected brother homozygous wild type for this variant. Lymphoblast cells from the affected sisters showed complete loss of the GMPPA protein by Western blotting, and increased levels of GDP-mannose in lymphoblasts on high performance liquid chromatography. Based on our findings and the previous report describing patients with an overlapping phenotype, we conclude that this novel variant in GMPPA, identified by exome sequencing in the proband and her affected sister, is the genetic cause of their phenotype and may expand the known phenotype of this recently described glycosylation disorder. © 2017 Wiley Periodicals, Inc.

Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

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Ben-Salem, Salma; Sobreira, Nara; Akawi, Nadia A; Al-Shamsi, Aisha M; John, Anne; Pramathan, Thachillath; Valle, David; Ali, Bassam R; Al-Gazali, Lihadh

2016-01-01

The gene encoding the AT-rich interaction domain-containing protein 1B (ARID1B) has recently been shown to be one of the most frequently mutated genes in patients with intellectual disability (ID). The phenotypic spectrums associated with variants in this gene vary widely ranging for mild to severe non-specific ID to Coffin-Siris syndrome. In this study, we evaluated three children from a consanguineous Emirati family affected with ID and dysmorphic features. Genomic DNA from all affected siblings was analyzed using CGH array and whole-exome sequencing (WES). Based on a recessive mode of inheritance, homozygous or compound heterozygous variants shared among all three affected children could not be identified. However, further analysis revealed a heterozygous variant (c.4318C>T; p.Q1440*) in the three affected children in an autosomal dominant ID causing gene, ARID1B. This variant was absent in peripheral blood samples obtained from both parents and unaffected siblings. Therefore, we propose that the most likely explanation for this situation is that one of the parents is a gonadal mosaic for the variant. To the best of our knowledge, this is the first report of a gonadal mosaicism inheritance of an ARID1B variant leading to familial ID recurrence. © 2015 Wiley Periodicals, Inc.

Screening for Body Dysmorphic Disorder in a Dermatology Outpatient Setting at a Tertiary Care Centre

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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

Screening for body dysmorphic disorder in a dermatology outpatient setting at a tertiary care centre

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Fibin Thanveer

2016-01-01

Full Text Available 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.

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

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Sakati Nadia

2011-04-01

Full Text Available Abstract Background Genomic imbalances of the 12q telomere are rare; only a few patients having 12q24.31-q24.33 deletions were reported. Interestingly none of these were mosaic. Although some attempts have been made to establish phenotype/genotype interaction for the deletions in this region, no clear relationship has been established to date. Results We have clinically screened more than 100 patients with dysmorphic features, mental retardation and normal karyotype using high density oligo array-CGH (aCGH and identified a ~9.2 Mb hemizygous interstitial deletion at the 12q telomere (Chromosome 12: 46,XY,del(12(q24.31q24.33 in a severely developmentally retarded patient having dysmorphic features such as low set ears, microcephaly, undescended testicles, bent elbow, kyphoscoliosis, and micropenis. Parents were found to be not carriers. MLPA experiments confirmed the aCGH result. Interphase FISH revealed mosaicism in cultured peripheral blood lymphocytes. Conclusions Since conventional G-Banding technique missed the abnormality; this work re-confirms that any child with unexplained developmental delay and systemic involvement should be studied by aCGH techniques. The FISH technique, however, would still be useful to further delineate the research work and identify such rare mosaicism. Among the 52 deleted genes, P2RX2, ULK1, FZD10, RAN, NCOR2 STX2, TESC, FBXW8, and TBX3 are noteworthy since they may have a role in observed phenotype.

Anthropometric outcome of sagittal craniosynostosis following surgery

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Takagi, Toshinori; Morota, Nobuhito; Ihara, Satoshi; Kaneko, Tsuyoshi

2011-01-01

Several studies have shown good short-term outcomes after surgery for sagittal synostosis. However, the improvement in head shape usually regresses over the long term. The aim of this study was to compare anthropometric changes after surgery between osteoplastic expansion surgery and distraction osteogenesis for correcting sagittal synostosis. From November 2002 through December 2008, 17 patients with sagittal synostosis were analyzed. Anthropometric changes were assessed with cephalic indices obtained with computed tomography of the skull. The age of the patients at the time of surgery ranged from 2 to 25 months (mean, 8.2 months), and the follow-up period ranged from 6 to 63 months (mean, 17 months). In 16 patients, the cephalic index showed improvement immediately after surgery but gradually decreased in the follow-up period. The improving rate was decreased more after osteoplastic expansion surgery than after distraction osteogenesis (p<0.01). Although long-term follow-up is necessary, morphological improvement persists to a greater degree after distraction surgery. (author)

A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review.

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Al Kaissi, Ali; Klaushofer, Klaus; Krebs, Alexander; Grill, Franz

2008-10-24

Radial hemimelia is a congenital abnormality characterised by the partial or complete absence of the radius. The longitudinal hemimelia indicates the absence of one or more bones along the preaxial (medial) or postaxial (lateral) side of the limb. Preaxial limb defects occurred more frequently with a combination of microtia, esophageal atresia, anorectal atresia, heart defects, unilateral kidney dysgenesis, and some axial skeletal defects. Postaxial acrofacial dysostoses are characterised by distinctive facies and postaxial limb deficiencies, involving the 5th finger, metacarpal/ulnar/fibular/and metatarsal. The patient, an 8-year-old-boy with minimal craniofacial dysmorphic features but with profound upper limb defects of bilateral and symmetrical absence of the radius and the thumbs respectively. In addition, there was a unilateral tibio-fibular hypoplasia (hemimelia) associated with hypoplasia of the terminal phalanges and malsegmentation of the upper thoracic vertebrae, causing effectively the development of thoracic kyphosis. In the typical form of the preaxial acrofacial dysostosis, there are aberrations in the development of the first and second branchial arches and limb buds. The craniofacial dysmorphic features are characteristic such as micrognathia, zygomatic hypoplasia, cleft palate, and preaxial limb defects. Nager and de Reynier in 1948, who used the term acrofacial dysostosis (AFD) to distinguish the condition from mandibulofacial dysostosis. Neither the facial features nor the limb defects in our present patient appear to be absolutely typical with the previously reported cases of AFD. Our patient expands the phenotype of syndromic preaxial limb malformation complex. He might represent a new syndromic entity of mild naso-maxillary malformation in connection with axial and extra-axial malformation complex.

An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly

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J. Carter

2017-01-01

Full Text Available Interstitial deletions of 4q are rarely reported, vary in size, and have limited genotype-phenotype correlations. Here, genome-wide array CGH analysis identified a 21.6 Mb region of copy number loss at 4q12-q21.1 in a patient diagnosed with dysmorphism, linear skin pigmentation, and hepatomegaly. An additional small ring chromosome was detected in 5/30 cells examined via G-banding. Confirmation of the origin of the ring chromosome was obtained by FISH analysis which identified that the ring chromosome contained material from the deleted region of chromosome 4 and was therefore complementary to the 21.6 Mb deletion. Further microarray studies in the proband using a different microarray platform showed no evidence of mosaicism. This case highlights the importance of an integrated approach to cytogenetic analysis and demonstrates the value of G-banding for detecting mosaicism, as current microarray platforms are unable to detect low level mosaics.

Prevalence, demographic and clinical characteristics of body dysmorphic disorder among psychiatric outpatients with mood, anxiety or somatoform disorders.

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van der Meer, Job; van Rood, Yanda R; van der Wee, Nic J; den Hollander-Gijsman, Margien; van Noorden, Martijn S; Giltay, Erik J; Zitman, Frans G

2012-09-01

To describe the prevalence, demographic and clinical characteristics of body dysmorphic disorder (BDD) compared with other psychiatric outpatients with a mood, anxiety or somatoform disorder. Outpatients referred for treatment of a mood, anxiety or somatoform disorder were routinely assessed at intake. A structured interview (MINI-Plus), observer-based and self-rating instruments were administered by an independent assessor. Among our sample of 3798 referred patients, 2947 patients were diagnosed with at least one DSM-IV mood, anxiety or somatoform disorder. Of these patients 1.8% (n = 54) met the diagnostic criteria for BDD. In comparison with other outpatients, patients with BDD were on average younger, less often married and were more often living alone. Highly prevalent comorbid diagnoses were major depression (in 46.3% of cases), social anxiety disorder (in 35.2% of cases) and obsessive-compulsive disorder (OCD) (in 16.7% of cases). Furthermore, patients with BDD had higher scores on the Clinical Global Impression of Severity (CGI-S) as well as lower scores on the Short Form 36 social role functioning. BDD is frequently associated with depression, social phobia and OCD. Patients with BDD have more distress and more impaired interpersonal functioning.

Anorexia nervosa and body dysmorphic disorder are associated with abnormalities in processing visual information.

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Li, W; Lai, T M; Bohon, C; Loo, S K; McCurdy, D; Strober, M; Bookheimer, S; Feusner, J

2015-07-01

Anorexia nervosa (AN) and body dysmorphic disorder (BDD) are characterized by distorted body image and are frequently co-morbid with each other, although their relationship remains little studied. While there is evidence of abnormalities in visual and visuospatial processing in both disorders, no study has directly compared the two. We used two complementary modalities--event-related potentials (ERPs) and functional magnetic resonance imaging (fMRI)--to test for abnormal activity associated with early visual signaling. We acquired fMRI and ERP data in separate sessions from 15 unmedicated individuals in each of three groups (weight-restored AN, BDD, and healthy controls) while they viewed images of faces and houses of different spatial frequencies. We used joint independent component analyses to compare activity in visual systems. AN and BDD groups demonstrated similar hypoactivity in early secondary visual processing regions and the dorsal visual stream when viewing low spatial frequency faces, linked to the N170 component, as well as in early secondary visual processing regions when viewing low spatial frequency houses, linked to the P100 component. Additionally, the BDD group exhibited hyperactivity in fusiform cortex when viewing high spatial frequency houses, linked to the N170 component. Greater activity in this component was associated with lower attractiveness ratings of faces. Results provide preliminary evidence of similar abnormal spatiotemporal activation in AN and BDD for configural/holistic information for appearance- and non-appearance-related stimuli. This suggests a common phenotype of abnormal early visual system functioning, which may contribute to perceptual distortions.

Adjunctive antipsychotic in the treatment of body dysmorphic disorder - A retrospective naturalistic case note study.

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Rashid, Haroon; Khan, Akif A; Fineberg, Naomi A

2015-06-01

A retrospective naturalistic case note study to determine the frequency, co-morbidity and treatment-response of body dysmorphic disorder (BDD). Records from 280 patients attending a highly specialised obsessive-compulsive disorder (OCD)/BDD service were analysed. The clinical outcome was measured either through scoring of the Yale-Brown Obsessive-Compulsive Scale (Y-BOCS) for OCD/BDD, or textual analysis of case notes for evidence of symptomatic improvement, treatment tolerability, and premature disengagement. A total of 32 patients (11.43%) were diagnosed with BDD. Of these, 28 (87.5%) had at least one co-morbidity. All patients were offered cognitive behavioural therapy (CBT) and selective serotonin reuptake inhibitor (SSRI). Adjunctive low-dose antipsychotic was prescribed for 21 (66%) patients. Overall, 18/32 (56%) responded, and 7/32 (22%) disengaged prematurely. Patients offered antipsychotic, SSRI and CBT (n = 21) were compared with those offered SSRI and CBT only (n = 11). The treatment was well-tolerated. Whereas there was no significant inter-group difference in the clinical response rate, premature disengagement occurred less frequently in the antipsychotic-treated patients (9.5% versus 45%; Fisher's Exact Test P = 0.0318). BDD frequently presents with co-morbidity, treatment-resistance and premature disengagement. Adjunctive antipsychotic was associated with significantly better treatment adherence, but responder rates did not differ significantly, possibly related to the small sample-size. A well-powered randomised controlled study is warranted, to determine clinical outcomes with adjunctive antipsychotic in BDD.

Radiological assessment of skull base changes in children with syndromic craniosynostosis: role of ''minor'' sutures

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Calandrelli, Rosalinda; D' Apolito, Gabriella; Gaudino, Simona; Stefanetti, Mariangela; Colosimo, Cesare [Universita Cattolica Sacro Cuore, Institute of Radiology, Rome (Italy); Massimi, Luca; Di Rocco, Concezio [Universita Cattolica Sacro Cuore, Institute of Neurosurgery, Rome (Italy)

2014-10-15

This study aims to identify the premature synostosis of ''major'' and ''minor'' sutures of the four ''sutural arches'' of the skull and to perform a morphometric analysis in children with syndromic craniosynostosis in order to evaluate changes in the skull base linked with premature suture synostosis. We reviewed multiplanar high-resolution CT images, implemented with 3D reconstructions, from 18 patients with complex syndromic craniosynostosis and compared them with 18 age-matched healthy subjects. We assessed the calvarial sutures and their extension to the skull base, and then we correlated specific types of synostosis with the size, shape and symmetry of the cranial fossae. We found a marked asymmetry of the skull base growth in all patients. The synostotic involvement around the coronal ring caused a reduction in the growth of the anterior and middle fossae. The size of the posterior cranial fossa was related not only to ''major'' but also to ''minor'' suture synostosis of the lambdoid and parieto-squamosal arches. Changes in the skull base and craniofacial axis symmetry are due to structural and functional relationships between ''major'' and ''minor'' skull sutures, suggesting a structural and functional relationship between the neurocranium and basicranium. The early recognition of prematurely closed skull base sutures may help clinicians and neurosurgeons to establish correct therapeutic approaches. (orig.)

The fourth dimension in simulation surgery for craniofacial surgical procedures.

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Kurihara, T

2001-03-01

The intracranial volume was measured in all 18 cases of craniosynostosis and craniofacial synostosis with 3DCT using a modification of Miyake's formula, with a 6 years' follow-up. 1: There were no cases where the intracranial volume was less than the modified Miyake's formula. 2: Total cranial reshaping, compared to the local forehead advancement, was effective in increasing the intracranial cavity and growth postoperatively. 3: In cases of craniofacial synostosis, there is a possibility that mental retardation will develop if the intracranial volume tends to increase rapidly and more than expected.

Body Dysmorphic Disorder: Gender differences and prevalence in a Pakistani medical student population

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Vaqar Talha

2008-04-01

Full Text Available Abstract Background Body dysmorphic disorder (BDD is a psychiatric disorder characterized by a preoccupation with an imagined or slight defect which causes significant distress or impairment in functioning. Few studies have assessed gender differences in BDD in a non clinical population. Also no study assessed BDD in medical students. This study was designed to determine the point prevalence of BDD in Pakistani medical students and the gender differences in prevalence of BDD, body foci of concern and symptoms of BDD. Methods The medical students enrolled in a medical university in Karachi, Pakistan filled out a self-report questionnaire which assessed clinical features of BDD. BDD was diagnosed according to the DSM-IV criteria. Results Out of the 156 students, 57.1% were female. A total of 78.8% of the students reported dissatisfaction with some aspect of their appearance and 5.8% met the DSM-IV criteria for BDD. The male to female ratio for BDD was 1.7. Regarding gender differences in body foci of concern, the top three reported foci of concern in male students were head hair (34.3%, being fat (32.8%, skin (14.9% and nose(14.9%, whereas in females they were being fat (40.4%, skin (24.7% and teeth (18%. Females were significantly more concerned about being fat (p = 0.005. Male students were significantly more concerned about being thin (p = 0.01 and about head hair (p = 0.012. Conclusion BDD is fairly common in our medical student population, with a higher prevalence in males. Important gender differences in BDD symptomatology and reported body foci of concern were identified which reflected the influence of media on body image perception. The impact of cultural factors on the prevalence as well as gender differences in BDD symptomatology was also established.

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

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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.

Attentional biases in body dysmorphic disorder (BDD): Eye-tracking using the emotional Stroop task.

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Toh, Wei Lin; Castle, David J; Rossell, Susan L

2017-04-01

Body dysmorphic disorder (BDD) is characterised by repetitive behaviours and/or mental acts occurring in response to preoccupations with perceived defects or flaws in physical appearance. This study aimed to examine attentional biases in BDD via the emotional Stroop task with two modifications: i) incorporating an eye-tracking paradigm, and ii) employing an obsessive-compulsive disorder (OCD) control group. Twenty-one BDD, 19 OCD and 21 HC participants, who were age-, sex-, and IQ-matched, were included. A card version of the emotional Stroop task was employed based on seven 10-word lists: (i) BDD-positive, (ii) BDD-negative, (iii) OCD-checking, (iv) OCD-washing, (v) general positive, (vi) general threat, and (vii) neutral (as baseline). Participants were asked to read aloud words and word colours consecutively, thereby yielding accuracy and latency scores. Eye-tracking parameters were also measured. Participants with BDD exhibited significant Stroop interference for BDD-negative words relative to HC participants, as shown by extended colour-naming latencies. In contrast, the OCD group did not exhibit Stroop interference for OCD-related nor general threat words. Only mild eye-tracking anomalies were uncovered in clinical groups. Inspection of individual scanning styles and fixation heat maps however revealed that viewing strategies adopted by clinical groups were generally disorganised, with avoidance of certain disorder-relevant words and considerable visual attention devoted to non-salient card regions. The operation of attentional biases to negative disorder-specific words was corroborated in BDD. Future replication studies using other paradigms are vital, given potential ambiguities inherent in emotional Stroop task interpretation. Copyright © 2017 Elsevier Inc. All rights reserved.

Comorbidity between obsessive-compulsive disorder and body dysmorphic disorder: prevalence, explanatory theories, and clinical characterization

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Frías, Álvaro; Palma, Carol; Farriols, Núria; González, Laura

2015-01-01

Background With the advent of the fifth edition of Diagnostic and Statistical Manual of Mental Disorders, body dysmorphic disorder (BDD) has been subsumed into the obsessive-compulsive disorders and related disorders (OCDRD) category. Objective We aimed to determine the empirical evidence regarding the potential relationship between BDD and obsessive-compulsive disorder (OCD) based on the prevalence data, etiopathogenic pathways, and clinical characterization of patients with both disorders. Method A comprehensive search of databases (PubMed and PsycINFO) was performed. Published manuscripts between 1985 and May 2015 were identified. Overall, 53 studies fulfilled inclusion criteria. Results Lifetime comorbidity rates of BDD–OCD are almost three times higher in samples with a primary diagnosis of BDD than those with primary OCD (27.5% vs 10.4%). However, other mental disorders, such as social phobia or major mood depression, are more likely among both types of psychiatric samples. Empirical evidence regarding the etiopathogenic pathways for BDD–OCD comorbidity is still inconclusive, whether concerning common shared features or one disorder as a risk factor for the other. Specifically, current findings concerning third variables show more divergences than similarities when comparing both disorders. Preliminary data on the clinical characterization of the patients with BDD and OCD indicate that the deleterious clinical impact of BDD in OCD patients is greater than vice versa. Conclusion Despite the recent inclusion of BDD within the OCDRD, data from comparative studies between BDD and OCD need further evidence for supporting this nosological approach. To better define this issue, comparative studies between BDD, OCD, and social phobia should be carried out. PMID:26345330

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

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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

The Role of Preoperative Imaging in the Management of Nonsyndromic Lambdoid Craniosynostosis.

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Ranganathan, Kavitha; Rampazzo, Antonio; Hashmi, Asra; Muraszko, Karin; Strahle, Jennifer; Vercler, Christian J; Buchman, Steven R

2018-01-01

The necessity of imaging for patients with craniosynostosis is controversial. Lambdoid synostosis is known to be associated with additional anomalies, but the role of imaging in this setting has not been established. The purpose of this study was to evaluate the impact of preoperative imaging on intraoperative and postoperative management among patients undergoing operative intervention for lambdoid craniosynostosis. A retrospective review of patients undergoing cranial vault remodeling for lambdoid craniosynostosis between January 2006 and 2014 was conducted. Patient demographics, age at computed tomography scan, age at surgery, results of the radiologic evaluation, operative technique, and modification of the diagnosis following the radiologic studies were analyzed. A pediatric neuroradiology and the surgical team interpreted the radiographs. The primary outcome was change in intraoperative or postoperative management based on imaging results. A total of 11 patients were diagnosed with lambdoid synostosis. Of these patients, 81.8% had abnormalities on imaging relevant to operative planning. The most common anomalies were Chiari I malformation (45%) and venous anomalies of the posterior fossa (36%). Preoperative imaging altered the management of 9 (81.8%) patients. Closer follow-up was required for 6 patients (54%). Suboccipital decompression was performed in 4 patients (36%). Venous anomalies were found in 4 patients (36%). The diagnosis was changed from positional plagiocephaly to lambdoid synostosis in 2 patients (18%). Given the frequency and significance of radiographic abnormalities in the setting of lamboid synostosis, preoperative imaging should be considered during the operative planning phase as it can affect postoperative and intraoperative management.

The face in marfan syndrome: A 3D quantitative approach for a better definition of dysmorphic features.

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Dolci, Claudia; Pucciarelli, Valentina; Gibelli, Daniele M; Codari, Marina; Marelli, Susan; Trifirò, Giuliana; Pini, Alessandro; Sforza, Chiarella

2018-04-01

Marfan syndrome (MFS) is a rare hereditable disorder of connective tissue caused by mutations in the fibrillin-1 gene FBN1. Timely diagnosis of MFS is essential to prevent life-threatening cardiovascular complications; nevertheless it can be difficult owing to the phenotypic variability of the syndrome. No clear quantitative definition of facial abnormalities associated with MFS is available. The aim of this study was to improve the definition of the facial phenotype associated with MFS and to verify the usefulness of a 3D noninvasive quantitative approach for its early recognition. 3D facial images of 61 Italian subjects with MFS, aged 16-64 years (21 males, 38 ± 15 years; 40 females, 41 ± 13 years) were obtained by stereophotogrammetry. From the coordinates of 17 soft-tissue facial landmarks, linear distances and angles were computed; z score values were calculated to compare patients with healthy reference subjects (400 males, 379 females) matched for sex and age. Student's t test was used for statistical comparisons. All subjects with MFS showed greater facial divergence (P sex differences. Quantitative abnormalities identified in this study enrich information about the facial dysmorphism in MFS and confirm its usefulness for early recognition of the disease. Clin. Anat. 31:380-386, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

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Adrian Mc Cormack

2014-01-01

Full Text Available Concurrent cryptic microdeletion and microduplication syndromes have recently started to reveal themselves with the advent of microarray technology. Analysis has shown that low-copy repeats (LCRs have allowed chromosome regions throughout the genome to become hotspots for nonallelic homologous recombination to take place. Here, we report a case of a 7.5-year-old girl who manifests microcephaly, developmental delay, and mild dysmorphic features. Microarray analysis identified a microduplication in chromosome 17q21.31, which encompasses the CRHR1, MAPT, and KANSL1 genes, as well as a microdeletion in chromosome 7q31.33 that is localised within the GRM8 gene. To our knowledge this is one of only a few cases of 17q21.31 microduplication. The clinical phenotype of patients with this microduplication is milder than of those carrying the reciprocal microdeletions, and suggests that the lower incidence of the former compared to the latter may be due to underascertainment.

Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel).

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Tonni, Gabriele; Palmisano, Marcella; Ginocchi, Vladimiro; Ventura, Alessandro; Baldi, Maurizia; Baffico, Ave Maria

2014-11-01

Prenatal diagnosis of thanatophoric dysplasia (TD) type II presenting in the first trimester with increased nuchal translucency (NT) and cloverleaf skull (Kleeblattschaedel) have been scantly reported in the medical record. Abnormal choroid plexus has been seen in association with fetal anomalies. Here we described a case of increased NT associated with indented choroid plexuses, early onset hydrocephalus and cloverleaf skull in a fetus subsequently diagnosed at early second trimester to carry a de novo mutation encoding for TD type II. The findings of dysmorphic choroid plexus, early onset hydrocephalus and cloverleaf skull at first trimester scan may be early, useful ultrasound markers of TD type II. Molecular analysis to control for possible overlapping syndromes were performed and resulted negative. Postmortem X-ray and 3D-CT scan confirmed the cloverleaf skull, narrow thorax, straight femur with rhizomelic shortening of the limbs and the presence of a communicating hydrocephalus. © 2014 Japanese Teratology Society.

The impact of comorbid body dysmorphic disorder on the response to sequential pharmacological trials for obsessive-compulsive disorder.

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Diniz, Juliana B; Costa, Daniel Lc; Cassab, Raony Cc; Pereira, Carlos Ab; Miguel, Euripedes C; Shavitt, Roseli G

2014-06-01

Our aim was to investigate the impact of comorbid body dysmorphic disorder (BDD) on the response to sequential pharmacological trials in adult obsessive-compulsive disorder (OCD) patients. The sequential trial initially involved fluoxetine monotherapy followed by one of three randomized, add-on strategies: placebo, clomipramine or quetiapine. We included 138 patients in the initial phase of fluoxetine, up to 80 mg or the maximum tolerated dosage, for 12 weeks. We invited 70 non-responders to participate in the add-on trial; as 54 accepted, we allocated 18 to each treatment group and followed them for an additional 12 weeks. To evaluate the combined effects of sex, age, age at onset, initial severity, type of augmentation and BDD on the response to sequential treatments, we constructed a model using generalized estimating equations (GEE). Of the 39 patients who completed the study (OCD-BDD, n = 13; OCD-non-BDD, n = 26), the OCD-BDD patients were less likely to be classified as responders than the OCD-non-BDD patients (Pearson Chi-Square = 4.4; p = 0.036). In the GEE model, BDD was not significantly associated with a worse response to sequential treatments (z-robust = 1.77; p = 0.07). The predictive potential of BDD regarding sequential treatment strategies for OCD did not survive when the analyses were controlled for other clinical characteristics. © The Author(s) 2013.

The frequency of body dysmorphic disorder in dermatology and cosmetic dermatology clinics: a study from Turkey.

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Dogruk Kacar, S; Ozuguz, P; Bagcioglu, E; Coskun, K S; Uzel Tas, H; Polat, S; Karaca, S

2014-06-01

Body dysmorphic disorder (BDD) is a distressing and impairing preoccupation with a slight or imagined defect in appearance. There are few reports on the prevalence of BDD in the Turkish population. To investigate the frequency of BDD in dermatology settings, and to compare the results from cosmetic dermatology with those from general dermatology settings. This cross-sectional study recruited 400 patients from cosmetic dermatology (CD) (n = 200) and general dermatology (GD) clinics (n = 200). A mini-survey was used to collect demographic and clinical characteristics, and the dermatology version of a brief self-report BDD screening questionnaire was administered. A five-point Likert scale was used for objective scoring of the stated concern, which was performed by dermatologists, and patients who scored ≥ 3 were excluded from the study. In total, 318 patients (151 in the CD group and 167 in the GD group) completed the study, and of these, 20 were diagnosed with BDD. The CD group had a higher rate of BDD (8.6%) than the GD group (4.2%) but this was not significant (P = 0.082). The major concern focused on body and weight (40.0%), followed by acne (25.0%). The number of cosmetic procedures in dermatology practices is increasing Therefore, it is becoming more important to recognize patients with BDD. Although the rates of BDD found in the present study are in agreement with the literature data, population-based differences still exist between this study and previous studies. © 2014 British Association of Dermatologists.

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

DEFF Research Database (Denmark)

Sehested, Line T; Møller, Rikke S; Bache, Iben

2010-01-01

We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial dysmorphi...... patients with previously reported patients, supports that haploinsuffiency of CNTNAP2 can result in language delay and/or autism spectrum disorder. Furthermore, we report on the second women with a deletion involving NOBOX who is affected by primary amenorrhea.......We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial dysmorphism...... and neuropsychiatric disorders including mental retardation, language delay and epilepsy. The sister had primary amenorrhea. Array CGH revealed a 12.2¿Mb deletion at 7q34-q36.2 including more than 60 genes where CNTNAP2 and NOBOX are of special interest. Comparison of the clinical and cytogenetic findings of our...

Disease: H01447 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available H01447 Body Dysmorphic Disorder Body dysmorphic disorder (BDD) is a psychiatric di... of Mental Disorders (DSM-5), body dysmorphic disorder (BDD) has been subsumed into the obsessive-compulsive...ompulsive disorder and body dysmorphic disorder: prevalence, explanatory theories, and clinical characteriza

Use of Dysmorphology for Subgroup Classification on Autism Spectrum Disorder in Chinese Children

Science.gov (United States)

Wong, Virginia C. N.; Fung, Cecilia K. Y.; Wong, Polly T. Y.

2014-01-01

Data from 1,261 Chinese Autistic Spectrum Disorder (ASD) patients were evaluated and categorized into dysmorphic (10.79%) and non-dysmorphic groups (89.21%) upon physical examination by the presence of dysmorphic features. Abnormal MRI/CT result, IQ scores and epilepsy were significantly associated with the dysmorphic group of ASD children.…

Genetics Home Reference: Bohring-Opitz syndrome

Science.gov (United States)

... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Microcephaly Information Page Educational Resources (9 links) Boston Children's Hospital: Metopic Synostosis (Trigonocephaly) Symptoms & Causes Centers for ...

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

Science.gov (United States)

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

Cognitive-behavioral therapy for body dysmorphic disorder: A systematic review and meta-analysis of randomized controlled trials.

Science.gov (United States)

Harrison, Amy; Fernández de la Cruz, Lorena; Enander, Jesper; Radua, Joaquim; Mataix-Cols, David

2016-08-01

Body dysmorphic disorder (BDD) is a chronic and disabling psychiatric disorder unlikely to remit without treatment. A systematic review and meta-analysis of randomized controlled trials (RCTs) of cognitive-behavioral therapy (CBT) for BDD was conducted, including published and unpublished trials to 26th November 2015. Primary outcomes were validated BDD measures; secondary outcomes included depression and insight. Meta-regressions were conducted to examine potential effects of variables on the primary outcome, including socio-demographic variables, comorbidity, symptom severity/duration, concomitant medication, treatment duration, and methodological quality of the RCTs. Seven RCTs (N=299) met inclusion criteria. CBT was superior to waitlist or credible psychological placebo in reducing BDD (7 studies; delta=-1.22, 95% CI=-1.66 to -0.79) and depression symptoms (5 studies; delta=-0.49, 95% CI=-0.76 to -0.22). CBT was associated with improvements in insight/delusionality (4 studies; delta=-0.56, 95% CI=-0.93 to -0.19). Improvement in BDD was maintained after 2-4months follow-up (3 studies; delta=-0.89, 95% CI=-1.24 to -0.54). Meta-regression analyses did not reveal any significant predictors of outcome. CBT is an efficacious treatment for BDD but there is substantial room for improvement. The specificity and long-term effects of CBT for BDD require further evaluation using credible control conditions. Additional trials comparing CBT with pharmacological therapies, as well as their combination, are warranted. Tele-care options, such as Internet-based CBT, hold great promise to increase access to evidence-based treatment for a majority of patients who need it and should be evaluated further. Copyright © 2016 Elsevier Ltd. All rights reserved.

Analysis of Craniofacial Images using Computational Atlases and Deformation Fields

DEFF Research Database (Denmark)

Ólafsdóttir, Hildur

2008-01-01

purposes. The basis for most of the applications is non-rigid image registration. This approach brings one image into the coordinate system of another resulting in a deformation field describing the anatomical correspondence between the two images. A computational atlas representing the average anatomy...... of asymmetry. The analyses are applied to the study of three different craniofacial anomalies. The craniofacial applications include studies of Crouzon syndrome (in mice), unicoronal synostosis plagiocephaly and deformational plagiocephaly. Using the proposed methods, the thesis reveals novel findings about...... the craniofacial morphology and asymmetry of Crouzon mice. Moreover, a method to plan and evaluate treatment of children with deformational plagiocephaly, based on asymmetry assessment, is established. Finally, asymmetry in children with unicoronal synostosis is automatically assessed, confirming previous results...

Phenomenology of men with body dysmorphic disorder concerning penis size compared to men anxious about their penis size and to men without concerns: a cohort study.

Science.gov (United States)

Veale, David; Miles, Sarah; Read, Julie; Troglia, Andrea; Carmona, Lina; Fiorito, Chiara; Wells, Hannah; Wylie, Kevan; Muir, Gordon

2015-03-01

Men with body dysmorphic disorder (BDD) may be preoccupied with the size or shape of the penis, which may be causing significant shame or impairment. Little is known about the characteristics and phenomenology of such men and whether they can be differentiated from men with small penis anxiety (SPA) (who do not have BDD), and men with no penile concerns. Twenty-six men with BDD, 31 men with SPA, and 33 men without penile concerns were compared on psychopathology, experiences of recurrent imagery, avoidance and safety-seeking behaviours. Men with BDD had significantly higher scores than both the SPA group and no penile concern group for measures of imagery, avoidance, safety seeking and general psychopathology. The groups differed on the phenomenology of BDD specific to penile size preoccupation clearly from the worries of SPA, which in turn were different to those of the men without concerns. The common avoidance and safety seeking behaviours were identified in such men that may be used clinically. Copyright © 2014 Elsevier Ltd. All rights reserved.

Associations in the longitudinal course of body dysmorphic disorder with major depression, obsessive-compulsive disorder, and social phobia.

Science.gov (United States)

Phillips, Katharine A; Stout, Robert L

2006-06-01

Body dysmorphic disorder (BDD) is an impairing and relatively common disorder that has high comorbidity with certain Axis I disorders. However, the longitudinal associations between BDD and comorbid disorders have not previously been examined. Such information may shed light on the nature of BDD's relationship to putative "near-neighbor" disorders, such as major depression, obsessive-compulsive disorder (OCD), and social phobia. This study examined time-varying associations between BDD and these comorbid disorders in 161 participants over 1-3 years of follow-up in the first prospective longitudinal study of the course of BDD. We found that BDD had significant longitudinal associations with major depression--that is, change in the status of BDD and major depression was closely linked in time, with improvement in major depression predicting BDD remission, and, conversely, improvement in BDD predicting depression remission. We also found that improvement in OCD predicted BDD remission, but that BDD improvement did not predict OCD remission. No significant longitudinal associations were found for BDD and social phobia (although the results for analyses of OCD and social phobia were less numerically stable). These findings suggest (but do not prove) that BDD may be etiologically linked to major depression and OCD, i.e., that BDD may be a member of both the putative OCD spectrum and the affective spectrum. However, BDD does not appear to simply be a symptom of these comorbid disorders, as BDD symptoms persisted in a sizable proportion of subjects who remitted from these comorbid disorders. Additional studies are needed to elucidate the nature of BDD's relationship to commonly co-occurring disorders, as this issue has important theoretical and clinical implications.

Therapist-guided, Internet-based cognitive–behavioural therapy for body dysmorphic disorder (BDD-NET): a feasibility study

Science.gov (United States)

Enander, Jesper; Ivanov, Volen Z; Andersson, Erik; Mataix-Cols, David; Ljótsson, Brjánn; Rück, Christian

2014-01-01

Objectives Cognitive–behavioural therapy (CBT) is an effective treatment for body dysmorphic disorder (BDD). However, most sufferers do not have access to this treatment. One way to increase access to CBT is to administer treatment remotely via the Internet. This study piloted a novel therapist-supported, Internet-based CBT program for BDD (BDD-NET). Design Uncontrolled clinical trial. Participants Patients (N=23) were recruited through self-referral and assessed face to face at a clinic specialising in obsessive–compulsive and related disorders. Suitable patients were offered secure access to BDD-NET. Intervention BDD-NET is a 12-week treatment program based on current psychological models of BDD that includes psychoeducation, functional analysis, cognitive restructuring, exposure and response prevention, and relapse prevention modules. A dedicated therapist provides active guidance and feedback throughout the entire process. Main outcome measure The clinician-administered Yale-Brown Obsessive Compulsive Scale for BDD (BDD-YBOCS). Symptom severity was assessed pretreatment, post-treatment and at the 3-month follow-up. Results BDD-NET was deemed highly acceptable by patients and led to significant improvements on the BDD-YBOCS (p=<0.001) with a large within-group effect size (Cohen's d=2.01, 95% CI 1.05 to 2.97). At post-treatment, 82% of the patients were classified as responders (defined as≥30% improvement on the BDD-YBOCS). These gains were maintained at the 3-month follow-up. Secondary outcome measures of depression, global functioning and quality of life also showed significant improvements with moderate to large effect sizes. On average, therapists spent 10 min per patient per week providing support. Conclusions The results suggest that BDD-NET has the potential to greatly increase access to CBT, at least for low-risk individuals with moderately severe BDD symptoms and reasonably good insight. A randomised controlled trial of BDD-NET is warranted

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

Science.gov (United States)

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

2018-06-01

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

FGFR2c-mediated ERK-MAPK activity regulates coronal suture development

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Pfaff, Miles J.; Xue, Ke; Li, Li; Horowitz, Mark C.; Steinbacher, Derek M.; Eswarakumar, Jacob V.P.

2017-01-01

Fibroblast growth factor receptor 2 (FGFR2) signaling is critical for proper craniofacial development. A gain-of-function mutation in the 2c splice variant of the receptor’s gene is associated with Crouzon syndrome, which is characterized by craniosynostosis, the premature fusion of one or more of the cranial vault sutures, leading to craniofacial maldevelopment. Insight into the molecular mechanism of craniosynostosis has identified the ERK-MAPK signaling cascade as a critical regulator of suture patency. The aim of this study is to investigate the role of FGFR2c-induced ERK-MAPK activation in the regulation of coronal suture development. Loss-of-function and gain-of-function Fgfr2c mutant mice have overlapping phenotypes, including coronal synostosis and craniofacial dysmorphia. In vivo analysis of coronal sutures in loss-of-function and gain-of-function models demonstrated fundamentally different pathogenesis underlying coronal suture synostosis. Calvarial osteoblasts from gain-of-function mice demonstrated enhanced osteoblastic function and maturation with concomitant increase in ERK-MAPK activation. In vitro inhibition with the ERK protein inhibitor U0126 mitigated ERK protein activation levels with a concomitant reduction in alkaline phosphatase activity. This study identifies FGFR2c-mediated ERK-MAPK signaling as a key mediator of craniofacial growth and coronal suture development. Furthermore, our results solve the apparent paradox between loss-of-function and gain-of-function FGFR2c mutants with respect to coronal suture synostosis. PMID:27034231

Timing of ectocranial suture activity in Gorilla gorilla as related to cranial volume and dental eruption.

Science.gov (United States)

Cray, James; Cooper, Gregory M; Mooney, Mark P; Siegel, Michael I

2011-05-01

Research has shown that Pan and Homo have similar ectocranial suture synostosis patterns and a similar suture ontogeny (relative timing of suture fusion during the species ontogeny). This ontogeny includes patency during and after neurocranial expansion with a delayed bony response associated with adaptation to biomechanical forces generated by mastication. Here we investigate these relationships for Gorilla by examining the association among ectocranial suture morphology, cranial volume (as a proxy for neurocranial expansion) and dental development (as a proxy for the length of time that it has been masticating hard foods and exerting such strains on the cranial vault) in a large sample of Gorilla gorilla skulls. Two-hundred and fifty-five Gorilla gorilla skulls were examined for ectocranial suture closure status, cranial volume and dental eruption. Regression models were calculated for cranial volumes by suture activity, and Kendall's tau (a non-parametric measure of association) was calculated for dental eruption status by suture activity. Results suggest that, as reported for Pan and Homo, neurocranial expansion precedes suture synostosis activity. Here, Gorilla was shown to have a strong relationship between dental development and suture activity (synostosis). These data are suggestive of suture fusion extending further into ontogeny than brain expansion, similar to Homo and Pan. This finding allows for the possibility that masticatory forces influence ectocranial suture morphology. © 2011 The Authors. Journal of Anatomy © 2011 Anatomical Society of Great Britain and Ireland.

Long-Term Outcome of Cognitive Behavior Therapy for Body Dysmorphic Disorder: A Naturalistic Case Series of 1 to 4 Years After a Controlled Trial.

Science.gov (United States)

Veale, David; Miles, Sarah; Anson, Martin

2015-11-01

There is some evidence for the efficacy of cognitive behavior therapy (CBT) for body dysmorphic disorder (BDD) after 1 to 6months but none in the long term. The aim of this study was to follow up the participants in a randomized controlled trial of CBT versus anxiety management to determine whether or not the treatment gains were maintained over time. Thirty of the original 39 participants who had CBT were followed up over 1 to 4years and assessed using a number of clinician and self-report measures, which included the primary outcome measure of the Yale-Brown Obsessive Compulsive Scale modified for BDD. Outcome scores generally maintained over time from end of treatment to long-term follow-up. There was a slight deterioration from n=20 (51.3%) to n=18 (46.2%) who met improvement criteria at long-term follow-up. Eleven (28.2%) were in full remission and 22 (56.4%) were in partial remission. The gains made were generally maintained at long-term follow-up. However, there were a significant number of participants who maintained chronic symptoms after treatment and may need a longer-term or more complex intervention and active medication management. Copyright © 2015. Published by Elsevier Ltd.

Accept, distract, or reframe? An exploratory experimental comparison of strategies for coping with intrusive body image thoughts in anorexia nervosa and body dysmorphic disorder.

Science.gov (United States)

Hartmann, Andrea S; Thomas, Jennifer J; Greenberg, Jennifer L; Rosenfield, Elizabeth H; Wilhelm, Sabine

2015-02-28

Negative body image is the hallmark of anorexia nervosa (AN) and body dysmorphic disorder (BDD). One aspect of body image, appearance-related thoughts, have shown to be a major contributor to relapse, thus further investigation of successful treatment strategies targeting these maladaptive thoughts are warranted. The present study tested an acceptance/mindfulness (AC), a cognitive restructuring (CR), and a distraction strategy with regard to their short-term effectiveness of reducing the frequency of thought occurrence and associated outcomes in participants with AN (n=20), BDD (n=21), and healthy controls (HC; n=22). Although all strategies led to a significant reduction of thought frequency, there was no group × strategy interaction effect in their reduction. Positive affect increased in the BDD group through the AC strategy, but decreased in healthy controls. Acceptance of the thought increased in the CR strategy in AN, whereas that strategy seemed to work least for BDD. Healthy controls showed most acceptance when using distraction. Taken together, the study suggests that all strategies might have their benefits and that it might be worthwhile further investigating differential indication of the strategies with regard to diagnosis and individual factors. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association

NARCIS (Netherlands)

Bessenyei, Beáta; Nagy, Andrea; Balogh, Erzsébet; Novák, László; Bognár, László; Knegt, Alida C.; Oláh, Eva

2013-01-01

We report on a female patient with an exceedingly rare combination of achondroplasia and multiple-suture craniosynostosis. Besides the specific features of achondroplasia, synostosis of the metopic, coronal, lambdoid, and squamosal sutures was found. Series of neurosurgical interventions were

Opitz C syndrome: Trigonocephaly, mental retardation and ...

African Journals Online (AJOL)

J.A. Avina Fierro

2015-06-09

Jun 9, 2015 ... metopic suture, but also can be distinguished the other minor facial anomalies that are found in ... synostosis in the metopic suture, it is a triangular shaped ..... ily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J.

Transtorno dismórfico corporal em dermatologia: diagnóstico, epidemiologia e aspectos clínicos Body dysmorphic disorder in dermatology: diagnosis, epidemiology and clinical aspects

Directory of Open Access Journals (Sweden)

Luciana Archetti Conrado

2009-12-01

Full Text Available São cada vez mais frequentes as queixas cosméticas, uma vez que objetivam a perfeição das formas do corpo e da pele. Os dermatologistas são consultados para avaliar e tratar essas queixas. Sendo assim, é importante conhecer o Transtorno Dismórfico Corporal, inicialmente chamado de "dismorfofobia", pouco estudado até recentemente. Esse transtorno é relativamente comum, por vezes, incapacitante, e envolve uma percepção distorcida da imagem corporal, caracterizada pela preocupação exagerada com um defeito imaginário na aparência ou com um mínimo defeito corporal presente. A maioria dos pacientes apresenta algum grau de prejuízo no funcionamento social e ocupacional, e como resultado de suas queixas obsessivas com a aparência, podem desenvolver comportamentos compulsivos, e, em casos mais graves, há risco de suicídio. O nível de crença é prejudicado, visto que não reconhecem o seu defeito como mínimo ou inexistente e, frequentemente, procuram tratamentos cosméticos para um transtorno psíquico. A prevalência do transtorno, na população geral, é de 1 a 2% e, em pacientes dermatológicos e de cirurgia cosmética, de 2,9 a 16%. Considerando a alta prevalência do Transtorno Dismórfico Corporal, em pacientes dermatológicos, e que os tratamentos cosméticos raramente melhoram seus sintomas, o treinamento dos profissionais para a investigação sistemática, diagnóstico e encaminhamento para tratamento psiquiátrico é fundamental.Cosmetic concerns are becoming increasingly common in view of the obsession with the perfect body and skin. Dermatologists are often seen to evaluate and treat these conditions. Therefore, it is important to acknowledge the existence of Body Dysmorphic Disorder, also known as dysmorphophobia. Despite being relatively common, this disorder has not been well researched. Sometimes causing impairment, the disease involves a distorted body image perception characterized by excessive preoccupation with

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

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

Science.gov (United States)

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.

Importância do dismorfismo eritrocitário na investigação da origem da hematúria: revisão da literatura The importance of the dysmorphic erythrocyte for investigation of the source of hematuria: literature review

Directory of Open Access Journals (Sweden)

Leonardo de Souza Vasconcellos

2005-04-01

Full Text Available As hematúrias são achados comuns nos exames de urina de rotina e nem sempre são sinais de doenças. A presença de hematúria associada a outras alterações urinárias, especialmente a proteinúria, sugere comprometimento do trato urinário e merece investigação. Na literatura são inúmeros os trabalhos que valorizam a sedimentoscopia urinária, principalmente a morfologia das hemácias, como indicativo do local do sangramento: se glomerular ou não-glomerular. Neste artigo, os autores revisam o estudo do dismorfismo eritrocitário, enfatizando a definição, a fisiopatologia, os métodos, os valores de referência e as limitações apontadas na literatura. As comparações com demais marcadores de hemorragia glomerular também foram discutidas. No final, os autores relatam como a literatura interpreta e utiliza os resultados da pesquisa do dismorfismo eritrocitário para guiar a propedêutica complementar na investigação da origem da hematúria.The hematurias are a frequent finding in urinary routine exams and do not necessarily indicate illness. The presence of hematuria associated with other urinary disturbances, especially proteinuria, indicates urinary tract pathology and should be investigated. In the literature, several studies point out the importance of urinary sedimentoscopy, specially the red cells morphology, to determine the source of bleeding: glomerular or non-glomerular. In this article, the authors review the dysmorphic erythrocyte, emphasizing on the meaning, the physiopathology, the methods, the cut-of values, and the limitations according to the literature. The comparisons with other markers of glomerular bleeding were also discussed. At the end, the authors exposed how the literature analyses and applies the dysmorphic erythrocyte results to guide the complementary research for investigation the source of urinary bleeding.

75 FR 39698 - Eunice Kennedy Shriver National Institute of Child Health and Human Development; Notice of Closed...

Science.gov (United States)

2010-07-12

... National Institute of Child Health and Human Development; Notice of Closed Meeting Pursuant to section 10(d... Institute of Child Health and Human Development Special Emphasis Panel Craniofacial Synostosis: Critical... Scientific Review, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, 6100...

Bone Gap Management Using Linear Rail System (LRS): Initial ...

African Journals Online (AJOL)

Background: Vascularized fibular grafting, free fibular graft, tibia profibula synostosis, amputation with a good prosthesis and Ilizarov technique are some of the suitable options for managing bone gaps that result from trauma or treatment of tumours, bone infection, congenital pseudoarthrosis and repeated failed ...

Custom made orthotic device for maintaining skull architecture during the postoperative period in infants undergoing craniosynostosis surgery

Science.gov (United States)

Gopal, Venu; Ganesh, Praveen; Nagarjuna, Muralidhara; Kumar, Kiran; Shetty, Samarth; Salins, Paul C.

2015-01-01

Aim To fabricate a cost effective, indigenous and simple orthotics helmet for post-operative cranial molding in patients with craniosynostosis surgery. Methods We present a case of 15 month old infant with secondary cranial vault deformity. Cranial vault remodeling surgery involving the posterior skull was planned and executed to increase the posterior gap, so that brain growth would be facilitated towards this empty space. Materials such as thermoplastic sponge, thermoplastic ionomer resin sheet, soft sponge and Velcro straps are used to fabricate a cranial orthotics helmet. Results We have successfully used the above materials to fabricate the orthotics helmet for post-operative cranial molding. Conclusion The technique described in this article is simple and cost effective. It can be custom made according to the demands of the surgical technique and the type of synostosis. It favors an individualistic prognosis, and proves worthwhile as every synostosis requires a unique treatment plan. It is an excellent adjuvant to craniosynostosis remodeling surgery. PMID:26258018

Experiment list: SRX150409 [Chip-atlas[Archive

Lifescience Database Archive (English)

Full Text Available combined immunodeficiency; dysmorphic facial features, developmental delay, malabsorption, and recurrent in...ine, Instability of heterochromatin of chromosomes 1, 9, and 16 with variable combined immunodeficiency; dysmorphic

[Three-dimensional computed tomography analysis and clinical application of sacroiliac screw placement].

Science.gov (United States)

Yin, Y C; Zhang, R P; Li, S L; Hou, Z Y; Chen, W; Zhang, Y Z

2018-03-01

Objective: To evaluate the possibility of transverse sacroiliac screw placement in different segments of the sacrum. Methods: Data of 80 pelvic CT scans (slice thickness ≤1.0 mm) archived in CT department of the Third Hospital of Hebei Medical University from September 2016 to October 2017 were retrospectively collected. Mimics software was used to rebuild the pelvis three-dimensional model. According to whether the sacral 1(S(1)) segment could place the transverse sacroiliac screws or not, all the sacrums were divided into normal group ( n =55) and dysmorphic group ( n =25). Simulation the S(1), sacral 2(S(2)) transverse sacroiliac screw placement in 3-Matic software. Analysis whether there was any difference in maximum diameter and length of S(2) transverse sacroiliac screw between the normal group and the dysmorphic group. The pelvic CT data of the dysmorphic group were measured, and the optimal tilt angle and length of the oblique S(1) screw were obtained. The feasibility of transverse sacroiliac screw insertion in sacral 3(S(3)) segment was evaluated. t -test, rank sum test, and χ(2) test was used to analyze data, respectively. Results: In the dysmorphic group, the largest diameter of the S(1) transverse screw was (4.9±1.6)mm, and the normal group was (13.6±3.6)mm ( t =-15.07, P =0.00). In the dysmorphic group, the largest diameter of S(2) transverse screw was (13.8±3.0)mm, and was (12.4±2.2)mm in the normal group( t =2.11, P =0.04). There was no significant difference in the length of S(2) transverse sacroiliac screw between the two groups ( t =0.47, P =0.64). In the dysmorphic group, the anterior vertebral height of S(1) was (23.1±4.0)mm, which was significantly higher than that of the normal group ((14.1±4.2)mm)( t =9.01, P =0.00). The angle of S(1)S(2) in the dysmorphic group was 10.9°(3.8°, 17.6°), which was significantly larger than that of the normal group (2.0°(1.0°, 2.0°) ( Z =-4.03, P =0.00). In the dysmorphic group, the incline angle

Disease: H01223 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available onia, poor eye contact and stereotypic movements. Most of the patients presented also with facial dysmorph...ic features, epilepsy and cerebral malformations. It has been suggested that haploi

Disease: H00206 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available MVA show the symptoms, including dysmorphic features, cataracts, neurologic symptoms. The majority of patien...ts with HIDS experience only recurrent febrile crises, without any neurologic abnormalities or dysmorphic

A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32

Directory of Open Access Journals (Sweden)

Gecz Jozef

2010-11-01

Full Text Available Abstract Background A novel phenotype consisting of cataract, mental retardation, erythematous skin rash and facial dysmorphism was recently described in an extended pedigree of Australian Aboriginal descent. Large scale chromosomal re-arrangements had previously been ruled out. We have conducted a genome-wide scan to map the linkage region in this family. Methods Genome-wide linkage analysis using Single Nucleotide Polymorphism (SNP markers on the Affymetrix 10K SNP array was conducted and analysed using MERLIN. Three positional candidate genes (ZBTB17, EPHA2 and EPHB2 were sequenced to screen for segregating mutations. Results Under a fully penetrant, dominant model, the locus for this unique phenotype was mapped to chromosome 1p35.3-p36.32 with a maximum LOD score of 2.41. The critical region spans 48.7 cM between markers rs966321 and rs1441834 and encompasses 527 transcripts from 364 annotated genes. No coding mutations were identified in three positional candidate genes EPHA2, EPHB2 or ZBTB17. The region overlaps with a previously reported region for Volkmann cataract and the phenotype has similarity to that reported for 1p36 monosomy. Conclusions The gene for this syndrome is located in a 25.6 Mb region on 1p35.3-p36.32. The known cataract gene in this region (EPHA2 does not harbour mutations in this family, suggesting that at least one additional gene for cataract is present in this region.

Somatic Symptom and Related Disorders

Science.gov (United States)

... A headache may mean a brain tumor. Body dysmorphic disorder occurs when a person becomes obsessed with ... body. Common concerns for people who have body dysmorphic disorder include: wrinkles hair loss weight gain size ...

Genetics Home Reference: Burn-McKeown syndrome

Science.gov (United States)

... Condition bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance BMKS choanal atresia-hearing loss-cardiac defects- ... C, Wagget J, Bray R, Goodship J. New dysmorphic syndrome with choanal atresia in siblings. Clin Dysmorphol. ...

The Antley-Bixler syndrome: two new cases.

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Hosalkar H

2001-10-01

Full Text Available The Antley-Bixler syndrome is a rare multiple congenital anomaly with a high mortality rate. The characteristic manifestations include craniosynostosis, radiohumeral synostosis, midface hypoplasia, joint contractures and arachnodactyly. We report two new cases of this syndrome and address the diagnostic features, associated malformations, inheritance patterns, prenatal findings, and briefly review the literature.

2329-IJBCS-Article-Dr o Owoeye Tunde

African Journals Online (AJOL)

hp

X-ray of the bones showed an oblique fracture in the distal end of the shaft of fibula which is suggestive of post traumatic tibiofibular synostosis (TFS). Knowledge of distal TFS is important in resolving the puzzle of chronic shin pain of unknown origin and in accurate diagnosis of causes of ankle deformity and malformations.

A previously unreported variant of the synostotic sagittal suture: Case report and review of salient literature

Directory of Open Access Journals (Sweden)

Madison Budinich

2016-12-01

Full Text Available Introduction: Sagittal synostosis is a rare congenital disease caused by the premature fusion of the sagittal suture. Craniosynostosis occurs for a variety of reasons, different for every case, and often the etiology is unclear but the anomaly can frequently be seen as part of Crouzon's or Apert's syndromes. Herein, we discuss a rare case of craniosynostosis where the patient presented with a, to our knowledge, a previously undescribed variant of sagittal synostosis. Case report: A 3-month-old female infant presented to a craniofacial clinic for a consultation regarding an abnormal head shape. Images of the skull were performed, demonstrating that the patient had craniosynostosis. The patient displayed no other significant symptoms besides abnormalities in head shape. The sagittal suture was found to extend into the occipital bone where it was synostotic. Conclusion: To our knowledge, a synostotic sagittal suture has not been reported that extended posteriorly it involve the occipital bone. Those who interpret imaging or operate on this part of the skull should consider such a variation. Keywords: Anatomy, Craniosynostosis, Skull, Malformation, Pediatrics

Sexual Functioning and Behavior of Men with Body Dysmorphic Disorder Concerning Penis Size Compared with Men Anxious about Penis Size and with Controls: A Cohort Study.

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Veale, David; Miles, Sarah; Read, Julie; Troglia, Andrea; Wylie, Kevan; Muir, Gordon

2015-09-01

Little is known about the sexual functioning and behavior of men anxious about the size of their penis and the means that they might use to try to alter the size of their penis. To compare sexual functioning and behavior in men with body dysmorphic disorder (BDD) concerning penis size and in men with small penis anxiety (SPA without BDD) and in a control group of men who do not have any concerns. An opportunistic sample of 90 men from the community were recruited and divided into three groups: BDD (n = 26); SPA (n = 31) and controls (n = 33). The Index of Erectile Function (IEF), sexual identity and history; and interventions to alter the size of their penis. Men with BDD compared with controls had reduced erectile dysfunction, orgasmic function, intercourse satisfaction and overall satisfaction on the IEF. Men with SPA compared with controls had reduced intercourse satisfaction. There were no differences in sexual desire, the frequency of intercourse or masturbation across any of the three groups. Men with BDD and SPA were more likely than the controls to attempt to alter the shape or size of their penis (for example jelqing, vacuum pumps or stretching devices) with poor reported success. Men with BDD are more likely to have erectile dysfunction and less satisfaction with intercourse than controls but maintain their libido. Further research is required to develop and evaluate a psychological intervention for such men with adequate outcome measures.

Opitz C syndrome: Trigonocephaly, mental retardation and ...

African Journals Online (AJOL)

We describe a 4-year-old female child with a dysmorphic and neurological syndrome of trigonocephaly, mental and psychomotor retardation and dysmorphic facial ... The patient had important cerebral anomalies with diffuse alterations in white matter that caused developmental delay with verbal and nonverbal disabilities ...

Body image concern and selective attention to disgusting and non-self appearance-related stimuli.

Science.gov (United States)

Onden-Lim, Melissa; Wu, Ray; Grisham, Jessica R

2012-09-01

Although selective attention to one's own appearance has been widely documented in studies of body dysmorphic disorder (BDD), little is known about attentional bias toward non-self appearance-related stimuli in BDD. Furthermore, despite reports of heightened experience of disgust in BDD, it is unknown whether these individuals differentially attend to disgusting stimuli and whether disgust is important in processing of unattractive stimuli. We used a dot probe procedure to investigate the relationship between dysmorphic concern, a defining feature of BDD, and selective attention to faces, attractive, unattractive and disgusting images in a female heterosexual student population (N=92). At the long stimulus presentation (1000 ms), dysmorphic concern was positively associated with attention to faces in general and attractive appearance-related images. In contrast, at the short stimulus presentation (200 ms), there was a positive association between dysmorphic concern and disgusting images. Implications for theoretical models of BDD are discussed. Copyright © 2012. Published by Elsevier Ltd.

Sexual Functioning and Behavior of Men with Body Dysmorphic Disorder Concerning Penis Size Compared with Men Anxious about Penis Size and with Controls: A Cohort Study

Science.gov (United States)

Veale, David; Miles, Sarah; Read, Julie; Troglia, Andrea; Wylie, Kevan; Muir, Gordon

2015-01-01

Introduction Little is known about the sexual functioning and behavior of men anxious about the size of their penis and the means that they might use to try to alter the size of their penis. Aim To compare sexual functioning and behavior in men with body dysmorphic disorder (BDD) concerning penis size and in men with small penis anxiety (SPA without BDD) and in a control group of men who do not have any concerns. Methods An opportunistic sample of 90 men from the community were recruited and divided into three groups: BDD (n = 26); SPA (n = 31) and controls (n = 33). Main Outcome Measures The Index of Erectile Function (IEF), sexual identity and history; and interventions to alter the size of their penis. Results Men with BDD compared with controls had reduced erectile dysfunction, orgasmic function, intercourse satisfaction and overall satisfaction on the IEF. Men with SPA compared with controls had reduced intercourse satisfaction. There were no differences in sexual desire, the frequency of intercourse or masturbation across any of the three groups. Men with BDD and SPA were more likely than the controls to attempt to alter the shape or size of their penis (for example jelqing, vacuum pumps or stretching devices) with poor reported success. Conclusion Men with BDD are more likely to have erectile dysfunction and less satisfaction with intercourse than controls but maintain their libido. Further research is required to develop and evaluate a psychological intervention for such men with adequate outcome measures. PMID:26468378

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.

Science.gov (United States)

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.

Concurrent lumbosacral and sacrococcygeal fusion; a rare etiology of low back pain and coccygodynia?

Science.gov (United States)

Kapetanakis, Stylianos; Gkasdaris, Grigorios; Pavlidis, Pavlos; Givissis, Panagiotis

2017-09-21

Sacrum is a triangular bone placed in the base of the spine and formed by the synostosis of five sacral vertebrae (S1-S5). Its upper part is connected with the inferior surface of the body of L5 vertebra forming the lumbosacral joint, while its lower part is connected with the base of the coccyx forming the sacrococcygeal symphysis, an amphiarthrodial joint. The existence of four pairs of sacral foramen in both anterior and posterior surface of the sacrum is the most common anatomy. Nevertheless, supernumerary sacral foramina are possible to be created by the synostosis of lumbosacral joint or sacrococcygeal symphysis. We present a case of an osseous cadaveric specimen of the sacrum belonging to a 79-year-old Caucasian woman. A rare variation of the anatomy of the sacrum is reported; in which, the simultaneous fusion of the sacrum with both the L5 vertebra and the coccyx has created six pairs of sacral foramen. This variation should be taken into serious consideration, especially in the domain of radiology, neurosurgery, orthopaedics and spine surgery, because low back pain, coccygodynia and other neurological symptoms may emerge due to mechanical compression.

Subtalar coalition: usefulness of the C sign on lateral radiographs of the ankle

International Nuclear Information System (INIS)

Kim, Seong Hyun; Ahn, Joong Mo; Lee, Min Hee; Yoon, Hye Kyung; Kim, Sung Moon; Shin, Myung Jin; Kang, Heung Sik

2001-01-01

To assess the usefulness of the talocalcaneal C sign in the diagnosis of subtalar coalition, as seen on lateral radiographs of the ankle. Lateral radiographs of 12 ankles in 11 patients were included in this study. Twelve subtalar coalitions were confirmed by surgery (n=6), or by CT and/or MR (n=6). The presence of the talocalcaneal C sign on lateral ankle radiographs was determined. The C sign was continuous in six feet and interrupted in the remaining six. Subtalar coalition occurred simultaneously inthe middle and posterior subtalar joints in two cases, the posterior subtalar joint only in six, and in the middle subtalar joint only in four. In six cases confirmed at surgery, subtalar coalitions consisted of both synostosis and non-osseous fusion (synchondrosis and/or syndesmosis) and in one case of middle subtalar coalition, there was a bony bridge. The remaining six cases. confirmed at CT or MRI, involved both synostosis and non-osseous fusion (n=1) or non-osseous fusion only (n=5). In the diagnosis of subtalar coalition, the talocalcaneal C sign, seen on lateral radiographs of the ankle, is a useful indicator

[Osteotomies for treating developmental disorders of the neurocranium and visceral cranium].

Science.gov (United States)

Mühling, J

1991-02-01

Craniofacial deformities are primarily caused by premature synostosis of cranial sutures. Depending on the involved sutures, typical deformities of the neuro- and visceral cranium are produced. They result in severe functional and aesthetic disturbances. Several osteotomies, which do not only make an aesthetic improvement possible but a correction of severe malfunction, are available for therapy. Preoperative planning and postoperative treatment require the combination of orthodontics and maxillofacial surgery.

A rare case of short stature: Say Meyer syndrome.

Science.gov (United States)

Karthik, T S; Prasad, N Rajendra; Rani, P Radha; Maheshwari, Rushikesh; Reddy, P Amaresh; Chakradhar, B V S; Menon, Bindu

2013-10-01

Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI) brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.

Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress

Directory of Open Access Journals (Sweden)

Worman Howard J

2005-06-01

Full Text Available Abstract Background Hutchinson-Gilford progeria syndrome (HGPS, OMIM 176670 is a rare sporadic disorder with an incidence of approximately 1 per 8 million live births. The phenotypic appearance consists of short stature, sculptured nose, alopecia, prominent scalp veins, small face, loss of subcutaneous fat, faint mid-facial cyanosis, and dystrophic nails. HGPS is caused by mutations in LMNA, the gene that encodes nuclear lamins A and C. The most common mutation in subjects with HGPS is a de novo single-base pair substitution, G608G (GGC>GGT, within exon 11 of LMNA. This creates an abnormal splice donor site, leading to expression of a truncated protein. Results We studied a new case of a 5 year-old girl with HGPS and found a heterozygous point mutation, G608G, in LMNA. Complementary DNA sequencing of RNA showed that this mutation resulted in the deletion of 50 amino acids in the carboxyl-terminal tail domain of prelamin A. We characterized a primary dermal fibroblast cell line derived from the subject's skin. These cells expressed the mutant protein and exhibited a normal growth rate at early passage in primary culture but showed alterations in nuclear morphology. Expression levels and overall distributions of nuclear lamins and emerin, an integral protein of the inner nuclear membrane, were not dramatically altered. Ultrastructural analysis of the nuclear envelope using electron microscopy showed that chromatin is in close association to the nuclear lamina, even in areas with abnormal nuclear envelope morphology. The fibroblasts were hypersensitive to heat shock, and demonstrated a delayed response to heat stress. Conclusion Dermal fibroblasts from a subject with HGPS expressing a mutant truncated lamin A have dysmorphic nuclei, hypersensitivity to heat shock, and delayed response to heat stress. This suggests that the mutant protein, even when expressed at low levels, causes defective cell stability, which may be responsible for phenotypic

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

DEFF Research Database (Denmark)

Sogaard, Marie; Tümer, Zeynep; Hjalgrim, Helle

2005-01-01

BACKGROUND: Cryptic chromosome imbalances are increasingly acknowledged as a cause for mental retardation and learning disability. New phenotypes associated with specific rearrangements are also being recognized. Techniques for screening for subtelomeric rearrangements are commercially available,...... dysmorphic features. Five had imbalances leading to recognizable phenotypes. CONCLUSION: Subtelomeric screening is a useful adjunct to conventional cytogenetic analyses, and should be considered in mentally retarded subjects with dysmorphic features and unknown cause....

A familial study of Hallermann–Streiff–François syndrome

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Epée E

2017-06-01

Full Text Available E Epée,1 D Beleho,2 AT Bitang,3 VA Njami,4 C Bengondo,5 Côme Ebana Mvogo1 1Ophthalmology Department, Yaoundé University Teaching Hospital, Yaoundé, Cameroon; 2Ophthalmology Department, Okola District Hospital, Okola, Cameroon; 3Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon; 4Higher Institute of Health Sciences, Université des Montagnes, Bangangté, Cameroon; 5Stomatology Department, Yaoundé University Teaching Hospital, Yaoundé, Cameroon Abstract: Hallermann–Streiff–François syndrome is a rare sporadic genetic pathology characterized by a phenotype consisting of growth retardation, ocular abnormalities, and a “bird-like head”. We hereby report a case of this syndrome found in three generations of the same family – father, daughter, and grand-daughter – who presented with a short stature and facial dysmorphic features, nystagmus, cataract, and bilateral microphthalmia. The discussion is based on the clinical and genetic aspects, and the challenges in management of this oculo-mandibulo-facial syndrome. The association of congenital cataract, facial dysmorphic features, and microphthalmia, should guide the diagnosis of dysmorphic syndromes such as Hallermann–Streiff–François syndrome. Keywords: Hallermann–Streiff–François syndrome, familial cataract, dysmorphic features, rare, Cameroon

Digitotalar dysmorphism: Molecular elucidation

African Journals Online (AJOL)

obtained for molecular studies. Since the distal arthrogryposes (DAs) are genetically heterogeneous, an unbiased approach to mutation ... Diseases and Molecular Medicine, Department of Pathology, Faculty of Health Sciences, University of Cape Town, South Africa, with an interest in molecular genetics of connective ...

Presence of muscle dysmorphia symptomology among male weightlifters.

Science.gov (United States)

Hildebrandt, Tom; Schlundt, David; Langenbucher, James; Chung, Tammy

2006-01-01

Limited research exists on muscle dysmorphia (MD) in men and in nonclinical populations. The current study evaluated types of body image disturbance among 237 male weightlifters. Latent class analysis of 8 measures of body image disturbance revealed 5 independent types of respondents: Dysmorphic, Muscle Concerned, Fat Concerned, Normal Behavioral, and Normal. One-way analysis of variance of independent measures of body image disturbance and associated psychopathology confirmed significant differences between groups. The Dysmorphic group reported a pattern of body image disturbance consistent with MD by displaying a high overall level of body image disturbance, symptoms of associated psychopathology, steroid use, and appearance-controlling behavior. Findings generally supported classifying MD as a subtype of body dysmorphic disorder and an obsessive-compulsive spectrum disorder. Implications for studying body image disturbance in male weightlifters, and further evaluation of the MD diagnostic criteria are discussed.

The morphogenesis of wormian bones: a study of craniosynostosis and purposeful cranial deformation.

Science.gov (United States)

Sanchez-Lara, Pedro A; Graham, John M; Hing, Anne V; Lee, John; Cunningham, Michael

2007-12-15

Wormian bones are accessory bones that occur within cranial suture and fontanelles, most commonly within the posterior sutures. They occur more frequently in disorders that have reduced cranial ossification, hypotonia or decreased movement, thereby resulting in deformational brachycephaly. The frequency and location of wormian bones varies with the type and severity of cranial deformation practiced by ancient cultures. We considered the hypothesis that the pathogenesis of wormian bones may be due to environmental variations in dural strain within open sutures and fontanelles. In order to explore this further, we measured the cephalic index (CI) in 20 purposefully deformed pre-Columbian skulls: 10 from Chichen Itza, Mexico, and 10 from Ancon, Peru, as well as 20 anatomically normal skulls used for medical school anatomy classes. We tested for a direct correlation between the CI and the number of wormian bones in skulls with varying degrees of brachycephalic cranial deformation and found no significant correlation. When the CI was grouped into three categories (normal (CI 93)) there was a trend toward increasing number of wormian bones as the skull became more brachycephalic (P = 0.039). A second part or our study tabulated the frequency and location of large wormian bones (greater than 1 cm) in 3-dimentional computerized tomography (3D-CT) scans from 207 cases of craniosynostosis and compared these data with published data on 485 normal dry skulls from a manuscript on wormian bones by Parker in 1905. Among cases of craniosynostosis, large wormian bones were significantly more frequent (117 out of 207 3D-CT scans) than in dry skulls (131 out of 485). There was a 3.5 greater odds of developing a wormian bone with premature suture closure (P < 0.001). Midline synostosis, specifically metopic or sagittal synostosis, has more wormian bones in the midline, whereas unilateral lambdoidal or coronal synostosis more often had wormian bones on the contralateral side. Taken

Complete trisomy 14 mosaicism: first live-born case in Korea

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Yun Jung Hur

2012-10-01

Full Text Available Trisomy 14 mosaicism is a rare chromosome disorder characterized by delayed development, failure to thrive, and facial dysmorphism. Only approximately 30 trisomy 14 mosaicism cases have been reported in the literature because trisomy 14 is associated with early spontaneous abortion. We report a case of a 17-month-old girl with abnormal skin pigmentation, delayed development, facial dysmorphism, and failure to thrive with the 47,XX,+14/46,XX chromosome complement.

The earliest evidence of true lambdoid craniosynostosis: the case of "Benjamina", a Homo heidelbergensis child.

Science.gov (United States)

Gracia, Ana; Martínez-Lage, Juan F; Arsuaga, Juan-Luis; Martínez, Ignacio; Lorenzo, Carlos; Pérez-Espejo, Miguel-Angel

2010-06-01

The authors report the morphological and neuroimaging findings of an immature human fossil (Cranium 14) diagnosed with left lambdoid synostosis. The skull was recovered at the Sima de los Huesos site in Atapuerca (Burgos, Spain). Since the human fossil remains from this site have been dated to a minimum age of 530,000 years, this skull represents the earliest evidence of craniosynostosis occurring in a hominid. A brief historical review of craniosynostosis and cranial deformation is provided.

A rare case of short stature: Say Meyer syndrome

Directory of Open Access Journals (Sweden)

T S Karthik

2013-01-01

Full Text Available Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. Case Report: A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Conclusion: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres.

Molecular Analysis of Gli3, Ihh, Rab23, and Jag1 in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin.

Science.gov (United States)

Gilbert, James R; Taylor, Gwen M; Losee, Joseph E; Mooney, Mark P; Cooper, Gregory M

2018-03-01

Craniosynostosis (CS) involves the premature fusion of one or more cranial sutures. The etiology of CS is complex and mutations in more than 50 distinct genes have been causally linked to the disorder. Many of the genes that have been associated with CS in humans play an essential role in tissue patterning and early craniofacial development. Among these genes are members of the Hedgehog (HH) and Notch signal transduction pathways, including the GLI family member Gli3, Indian Hedgehog ( Ihh), the RAS oncogene family member Rab23, and the Notch ligand JAGGED1 ( Jag1). We have previously described a colony of rabbits with a heritable pattern of coronal suture synostosis, although the genetic basis for synostosis within this model remains unknown. The present study was performed to determine if coding errors in Gli3, Ihh, Rab23, or Jag1 could be causally linked to craniosynostosis in this unique animal model. Sequencing of cDNA templates was performed using samples obtained from wild-type and craniosynostotic rabbits. Several nucleotide polymorphisms were identified in Gli3, Ihh, and Rab23, although these variants failed to segregate by phenotype. No nucleotide polymorphisms were identified in Jag1. These data indicate that the causal locus for heritable craniosynostosis in this rabbit model is not located within the protein coding regions of Gli3, Ihh, Rab23, or Jag1.

Fronto-Orbital Advancement and Total Calvarial Remodelling for Craniosynostosis

International Nuclear Information System (INIS)

Haq, E. U.; Aman, S.; Tammimy, M. S.; Ahmad, R. S.

2014-01-01

Objective: To describe the results of fronto-orbital advancement and remodelling for craniosynostosis in children. Study Design: Case series. Place and Duration of Study: Department of Plastic Surgery, Combined Military Hospital, Rawalpindi, from June 2009 to June 2012. Methodology: All the patients with cranial suture synostosis operated were included in the study. Those patients who were lost to follow-up were excluded. Variables considered were age, gender, type of synostosis, intracranial pressure, and history of previous surgeries for the same problem. Outcome measures were studied in terms of improvement of skull measurements (anteroposterior and bicoronal), duration of surgery, hospital stay, blood transfusions, complications and parents satisfaction. Results: A total of 36 patients were included in the study. Male to female ratio was 3:1. The age ranged from 5 to 54 months. Thirty two patients presented with non-syndromic and four with syndromic craniosynostosis. Fronto orbital advancement and total calvarial remodelling was done in 26 and 10 patients respectively. There was improvement in the skull measurements and the parents were satisfied in all cases with the skull shape. Complications occurred in 11.1% including chest and wound infection and one death. Conclusion: Fronto-orbital advancement and remodelling is an effective procedure for the correction of craniosynostosis, however, individual cases may require other procedures like total calvarial remodelling. (author)

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

DEFF Research Database (Denmark)

Tatton-Brown, Katrina; Seal, Sheila; Ruark, Elise

2014-01-01

Overgrowth disorders are a heterogeneous group of conditions characterized by increased growth parameters and other variable clinical features such as intellectual disability and facial dysmorphism. To identify new causes of human overgrowth, we performed exome sequencing in ten proband-parent tr......Overgrowth disorders are a heterogeneous group of conditions characterized by increased growth parameters and other variable clinical features such as intellectual disability and facial dysmorphism. To identify new causes of human overgrowth, we performed exome sequencing in ten proband...

A 48,XXXX female with absence of ovaries.

Science.gov (United States)

Collen, R J; Falk, R E; Lippe, B M; Kaplan, S A

1980-01-01

A 16 1/2-year-old phenotypic female had primary amenorrhea, mild mental retardation, radioulnar synostosis, and other minor anomalies. Chromosome constitution of leukocytes and skin fibroblasts was 48,XXXX. Plasma levels of gonadotropins were increased, and those of estrogens, decreased consistent with ovarian failure. Laparoscopy showed a small midline uterus, and 2 fallopian tubes, and fimbriae. Neither ovaries nor gonadal streaks were seen on either side. This patient appears to represent the first instance of 48,XXXX aneuploidy with documented absence of ovaries.

17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.

Science.gov (United States)

Dixit, Abhijit; Patel, Chirag; Harrison, Rachel; Jarvis, Joanna; Hulton, Sally; Smith, Nigel; Yates, Katherine; Silcock, Lee; McMullan, Dominic J; Suri, Mohnish

2012-09-01

Deletions of 17q12 are associated with renal cysts and maturity onset diabetes of the young, and have also been identified in women with reproductive tract anomalies due to Mullerian aplasia. Although initially identified in patients with normal cognitive ability, some patients with this recurrent microdeletion syndrome have learning problems. We identified a 17q12 microdeletion in three patients with renal cystic disease by array comparative genomic hybridization and the phenotypic spectrum of the 17q12 microdeletion syndrome is illustrated by the description of these patients. Of two patients who are old enough to be assessed, one has significant speech delay, autism spectrum disorder, and mild learning difficulty, while the other patient has only mild speech delay. This highlights the variability of cognitive involvement in this condition. The third patient presented with Alagille syndrome-like features in the neonatal period. All three patients had transient hypercalcemia in the neonatal period, a finding that has not previously been described in this condition. Moreover, two patients have mild or no dysmorphism, while one displays striking facial dysmorphism in addition to minor congenital anomalies. We suggest that while patients with 17q12 microdeletion syndrome can present with type 2 diabetes or renal cysts without any dysmorphic features, a subgroup may have dysmorphic features or present with neonatal cholestasis. Transient neonatal hypercalcemia may be a feature of this microdeletion syndrome. Copyright © 2012 Wiley Periodicals, Inc.

Structural genomic variation in childhood epilepsies with complex phenotypes

DEFF Research Database (Denmark)

Helbig, Ingo; Swinkels, Marielle E M; Aten, Emmelien

2014-01-01

of CNVs in patients with unclassified epilepsies and complex phenotypes. A total of 222 patients from three European countries, including patients with structural lesions on magnetic resonance imaging (MRI), dysmorphic features, and multiple congenital anomalies, were clinically evaluated and screened.......9%). Segregation of all identified variants could be assessed in 42 patients, 11 of which were de novo. The frequency of all structural variants and de novo variants was not statistically different between patients with or without MRI abnormalities or MRI subcategories. Patients with dysmorphic features were more...

Mutational screening of FGFR1, CER1, and CDON in a large cohort of trigonocephalic patients.

Science.gov (United States)

Jehee, Fernanda Sarquis; Alonso, Luis G; Cavalcanti, Denise P; Kim, Chong; Wall, Steven A; Mulliken, John B; Sun, Miao; Jabs, Ethylin Wang; Boyadjiev, Simeon A; Wilkie, Andrew O M; Passos-Bueno, Maria Rita

2006-03-01

Screen the known craniosynostotic related gene, FGFR1 (exon 7), and two new identified potential candidates, CER1 and CDON, in patients with syndromic and nonsyndromic metopic craniosynostosis to determine if they might be causative genes. Using single-strand conformational polymorphisms (SSCPs), denaturing high-performance liquid chromatography, and/or direct sequencing, we analyzed a total of 81 patients for FGFR1 (exon 7), 70 for CER1, and 44 for CDON. Patients were ascertained in the Centro de Estudos do Genoma Humano in São Paulo, Brazil (n = 39), the Craniofacial Unit, Oxford, U.K. (n = 23), and the Johns Hopkins University, Baltimore, Maryland (n = 31). Clinical inclusion criteria included a triangular head and/or forehead, with or without a metopic ridge, and a radiographic documentation of metopic synostosis. Both syndromic and nonsyndromic patients were studied. No sequence alterations were found for FGFR1 (exon 7). Different patterns of SSCP migration for CER1 compatible with the segregation of single nucleotide polymorphisms reported in the region were identified. Seventeen sequence alterations were detected in the coding region of CDON, seven of which are new, but segregation analysis in parents and homology studies did not indicate a pathological role. FGFR1 (exon 7), CER1, and CDON are not related to trigonocephaly in our sample and should not be considered as causative genes for metopic synostosis. Screening of FGFR1 (exon 7) for diagnostic purposes should not be performed in trigonocephalic patients.

Craniosynostosis of coronal suture in Twist1+/- mice occurs through endochondral ossification recapitulating the physiological closure of posterior frontal suture

Directory of Open Access Journals (Sweden)

Bjorn eBehr

2011-07-01

Full Text Available Craniosynostosis, the premature closure of cranial suture, is a pathologic condition that affects 1/2000 live births. Saethre-Chotzen syndrome is a genetic condition characterized by craniosynostosis. The Saethre-Chotzen syndrome, which is defined by loss-of-function mutations in the TWIST gene, is the second most prevalent craniosynostosis. Although much of the genetics and phenotypes in craniosynostosis syndromes is understood, less is known about the underlying ossification mechanism during suture closure. We have previously demonstrated that physiological closure of the posterior frontal (PF suture occurs through endochondral ossification. Moreover, we revealed that antagonizing canonical Wnt signaling in the sagittal suture leads to endochondral ossification of the suture mesenchyme and sagittal synostosis, presumably by inhibiting Twist1. Classic Saethre-Chotzen syndrome is characterized by coronal synostosis, and the haploinsufficient Twist1+/- mice represents a suitable model for studying this syndrome. Thus, we seeked to understand the underlying ossification process in coronal craniosynostosis in Twist1+/- mice. Our data indicate that coronal suture closure in Twist1+/- mice occurs between postnatal day 9 to 13 by endochondral ossification, as shown by histology, gene expression analysis and immunohistochemistry. In conclusion, this study reveals that coronal craniosynostosis in Twist1+/- mice occurs through endochondral ossification. Moreover, it suggests that haploinsufficency of Twist1 gene, a target of canonical Wnt-signaling, and inhibitor of chondrogenesis, mimics conditions of inactive canonical Wnt-signaling leading to craniosynostosis.

Parental perception of treatment and medical care in children with craniosynostosis.

Science.gov (United States)

Kluba, S; Rohleder, S; Wolff, M; Haas-Lude, K; Schuhmann, M U; Will, B E; Reinert, S; Krimmel, M

2016-11-01

Surgery for craniosynostosis implies a relevant strain on the child and the parents. The development of the child's self-perception and self-confidence is mainly influenced by parental attitudes. The outcomes of 46 patients were analysed, taking into consideration parental perceptions. Parents were asked to indicate their satisfaction with the medical care and treatment provided using a questionnaire. Aesthetics were evaluated by the parents and doctors using a score (1=perfect, 5=deficient). Major surgical complications (2.2%) were reported only in the case of complex synostosis. Reoperation was necessary in 2.9% of isolated cases and 45.5% of complex cases. In general, parents were satisfied with the medical (1.3) and nursing (1.6) inpatient care. Aesthetic assessments differed between parents and surgeons, although not significantly (P=0.27). The surgeons perceived the results to be better than the parents, especially for complex synostosis (1.3 vs. 2.7). Alopecia and persistent asymmetry led to a worse perception of aesthetics. Persistent bone defects did not influence parental satisfaction. All participating parents would opt for surgery again. Surgery led to satisfactory results with a low risk of severe complications. Nevertheless, the outcomes and limits of the surgical procedure must be communicated effectively to parents, especially in complex cases, to avoid a mismatch in expectations. It would be desirable to implement structured interviews with parents during regular treatment management. Copyright © 2016 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Technetium-99m scintigraphy associated with spondylolysis of the lumbar spine in children

International Nuclear Information System (INIS)

Kubota, Wataru; Sudo, Nariomi; Nakazima, Kiyonori; Nakamura, Mitsutaka

1987-01-01

Eight children with spondylolysis, aged from 10 to 18 years of age, underwent bone scanning with technetium-99m methylene diphosphonic acid. Radioisotope (RI) uptake was significantly observed in the site marked by the separation of the pars interarticularis, compared with the other sites between the articular processes. This showed the increase in metabolic activity of bones, providing supplementary information in the initial diagnosis. At the completion of conservative treatment, RI uptake decreased, being seemingly attributable to the improvement of subjective symptoms. Bone scanning may, however, be unhelpful in detecting synostosis. (Namekawa, K.)

Technetium-99m scintigraphy associated with spondylolysis of the lumbar spine in children

Energy Technology Data Exchange (ETDEWEB)

Kubota, W.; Sudo, N.; Nakazima, K.; Nakamura, M.

1987-02-01

Eight children with spondylolysis, aged from 10 to 18 years of age, underwent bone scanning with technetium-99m methylene diphosphonic acid. Radioisotope (RI) uptake was significantly observed in the site marked by the separation of the pars interarticularis, compared with the other sites between the articular processes. This showed the increase in metabolic activity of bones, providing supplementary information in the initial diagnosis. At the completion of conservative treatment, RI uptake decreased, being seemingly attributable to the improvement of subjective symptoms. Bone scanning may, however, be unhelpful in detecting synostosis.

A rare case of short stature: Say Meyer syndrome

OpenAIRE

Karthik, T. S.; Prasad, N. Rajendra; Rani, P. Radha; Maheshwari, Rushikesh; Reddy, P. Amaresh; Chakradhar, B. V. S.; Menon, Bindu

2013-01-01

Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. Case Report: A 3½-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was...

De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

Science.gov (United States)

Xia, Fan; Bainbridge, Matthew N.; Tan, Tiong Yang; Wangler, Michael F.; Scheuerle, Angela E.; Zackai, Elaine H.; Harr, Margaret H.; Sutton, V. Reid; Nalam, Roopa L.; Zhu, Wenmiao; Nash, Margot; Ryan, Monique M.; Yaplito-Lee, Joy; Hunter, Jill V.; Deardorff, Matthew A.; Penney, Samantha J.; Beaudet, Arthur L.; Plon, Sharon E.; Boerwinkle, Eric A.; Lupski, James R.; Eng, Christine M.; Muzny, Donna M.; Yang, Yaping; Gibbs, Richard A.

2014-01-01

Clinical whole-exome sequencing (WES) for identification of mutations leading to Mendelian disease has been offered to the medical community since 2011. Clinically undiagnosed neurological disorders are the most frequent basis for test referral, and currently, approximately 25% of such cases are diagnosed at the molecular level. To date, there are approximately 4,000 “known” disease-associated loci, and many are associated with striking dysmorphic features, making genotype-phenotype correlations relatively straightforward. A significant fraction of cases, however, lack characteristic dysmorphism or clinical pathognomonic traits and are dependent upon molecular tests for definitive diagnoses. Further, many molecular diagnoses are guided by recent gene-disease association discoveries. Hence, there is a critical interplay between clinical testing and research leading to gene-disease association discovery. Here, we describe four probands, all of whom presented with hypotonia, intellectual disability, global developmental delay, and mildly dysmorphic facial features. Three of the four also had sleep apnea. Each was a simplex case without a remarkable family history. Using WES, we identified AHDC1 de novo truncating mutations that most likely cause this genetic syndrome. PMID:24791903

Edward’s syndrome: A rare cause of difficult intubation-utility of left molar approach

Directory of Open Access Journals (Sweden)

Teena Bansal

2016-04-01

Full Text Available Edward’s syndrome (trisomy 18 is an autosomal abnormality with dysmorphic face, visceral deformities and delayed mental and motor development including congenital heart disease. Challenges may arise during mask ventilation, laryngoscopy and/or intubation of the trachea due to dysmorphic face. Difficult airway cart should be kept ready. Left molar approach using a standard Macintosh blade improves the laryngoscopic view in patients with difficult midline laryngoscopy. We hereby present a case report of a 2 year old male child with Edward’s syndrome posted for evacuation and drainage of brain abscess, intubated successfully using left molar approach.

Constitutional trisomy 8 mosaicism syndrome: case report and review.

Science.gov (United States)

Udayakumar, Achandira M; Al-Kindy, Adila

2013-12-01

Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone to confirm the diagnosis of patients with classical and unusual clinical presentations. This report reviews few previous cases to describe our case - a boy who had trisomy 8 mosaicism with severe dysmorphic features, born to a consanguineous Arabic couple. This study concludes that careful cytogenetic diagnoses of trisomy 8 mosaicism is essential for appropriate management and follow up of this rare disorder.

Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia

Energy Technology Data Exchange (ETDEWEB)

Calandrelli, Rosalinda; Panfili, Marco; D' Apolito, Gabriella; Pedicelli, Alessandro; Colosimo, Cesare [Fondazione Policlinico Universitario Agostino Gemelli, Univ. Cattolica del Sacro Cuore, Area Diagnostica per Immagini, Roma (Italy); Zampino, Giuseppe [Fondazione Policlinico Universitario Agostino Gemelli, Univ. Cattolica del Sacro Cuore, Area Salute del Bambino, Roma (Italy); Pilato, Fabio [Fondazione Policlinico Universitario Agostino Gemelli, Univ. Cattolica del Sacro Cuore, Area Neuroscienze, Roma (Italy)

2017-10-15

We propose an magnetic resonance imaging (MRI)-based quantitative morphovolumetric approach to the posterior cranial fossa (PCF) and craniocervical junction (CCJ) changes in achondroplastic patients investigating possible associations with ventriculomegaly and medullary compression. We analyzed MRI of 13 achondroplastic children not treated by surgery. 3D FSPGR T1-weighted images were used to analyze (1) PCF synchondroses; (2) PCF volume (PCFV), PCF brain volume (PCFBV), PCFV/PCFBV ratio, cerebellar volume, cerebrospinal fluid (CSF) spaces volume, and IV ventricle volume; (3) PCF (clivus, supraocciput, exocciput lengths, tentorial angle) and CCJ (AP and LL diameters of foramen magnum (FM)) morphometry; (4) measurements of FM and jugular foramina (JF) areas; and (5) supratentorial ventricular volume. All patients showed synostosis of spheno-occipital synchondroses, eight showed synostosis of intra-occipital synchondroses, nine showed CCJ impingement on the cervical cord but only three had cervical myelopathy. Compared to controls, clivus and exocciput lengths, LL and AP diameters of FM, FM area and JF area were significantly reduced, supraocciput length, tentorial angle, PCFV, PCFBV, cerebellar volume, supratentorial ventricular system volume were significantly increased. A correlation was found between clivus length and supratentorial ventricular volume, premature closure of intra-occipital synchondroses and FM area while a trend was found between FM area and supraocciput length. Our analysis demonstrates a relationship between the shortening of the clivus and the ventriculomegaly. On the other hand the premature closure of PCF synchondroses, the shape, and the growth direction of supraocciput bone contribute to reduce the FM area, causing in some patients medullary compression. (orig.)

Quantitative approach to the posterior cranial fossa and craniocervical junction in asymptomatic children with achondroplasia

International Nuclear Information System (INIS)

Calandrelli, Rosalinda; Panfili, Marco; D'Apolito, Gabriella; Pedicelli, Alessandro; Colosimo, Cesare; Zampino, Giuseppe; Pilato, Fabio

2017-01-01

We propose an magnetic resonance imaging (MRI)-based quantitative morphovolumetric approach to the posterior cranial fossa (PCF) and craniocervical junction (CCJ) changes in achondroplastic patients investigating possible associations with ventriculomegaly and medullary compression. We analyzed MRI of 13 achondroplastic children not treated by surgery. 3D FSPGR T1-weighted images were used to analyze (1) PCF synchondroses; (2) PCF volume (PCFV), PCF brain volume (PCFBV), PCFV/PCFBV ratio, cerebellar volume, cerebrospinal fluid (CSF) spaces volume, and IV ventricle volume; (3) PCF (clivus, supraocciput, exocciput lengths, tentorial angle) and CCJ (AP and LL diameters of foramen magnum (FM)) morphometry; (4) measurements of FM and jugular foramina (JF) areas; and (5) supratentorial ventricular volume. All patients showed synostosis of spheno-occipital synchondroses, eight showed synostosis of intra-occipital synchondroses, nine showed CCJ impingement on the cervical cord but only three had cervical myelopathy. Compared to controls, clivus and exocciput lengths, LL and AP diameters of FM, FM area and JF area were significantly reduced, supraocciput length, tentorial angle, PCFV, PCFBV, cerebellar volume, supratentorial ventricular system volume were significantly increased. A correlation was found between clivus length and supratentorial ventricular volume, premature closure of intra-occipital synchondroses and FM area while a trend was found between FM area and supraocciput length. Our analysis demonstrates a relationship between the shortening of the clivus and the ventriculomegaly. On the other hand the premature closure of PCF synchondroses, the shape, and the growth direction of supraocciput bone contribute to reduce the FM area, causing in some patients medullary compression. (orig.)

Monozygotic twin discordant for Down syndrome: mos 47,XX,+21/46,XX and 46,XX.

Science.gov (United States)

Choi, Sun Ah; Ko, Jung Min; Shin, Choong Ho; Yang, Sei Won; Choi, Jin Sun; Oh, Sun Kyung

2013-08-01

Monozygotic twins, developed from a single zygote, are almost identical in clinical phenotype and concordant karyotypes. Monozygotic twins with discordant karyotypes are thought to be quite rare. Here, we report monochorionic-diamniotic twins discordant for Down syndrome. On findings of prenatal ultrasonography, nuchal translucency thickness was different between twins, and suggested that one of the twins was at high risk for having chromosomal abnormalities including Down syndrome. The twins were monochorionic-diamniotic; therefore, chorionic villi sampling of the common placenta was performed. The karyotype of the chorionic villi cells was 46,XX, and pregnancy was maintained. After delivery, dysmorphic clinical features suggesting Down syndrome were found in one of the twins, while the other twin showed a morphologically normal appearance. Karyotypes of peripheral blood leukocytes were repeatedly normal in the dysmorphic twin; however, the karyotype of skin fibroblasts from the dysmorphic twin indicated Down syndrome mosaicism; 47,XX,+21[99]/46,XX[2]. The karyotype of skin fibroblasts from the morphologically normal twin was 46,XX. Monozygosity of the twins was confirmed by a short tandem repeat analysis using 16 polymorphic markers. A mitotic nondisjunction followed by the twinning would explain the discordant karyotypes between monozygotic twins.

Bilateral arcuate foramen associated with partial defect of the posterior arch of the atlas in a medieval skeleton: case report and review of the literature. Looking backward to go forward.

Science.gov (United States)

Travan, Luciana; Saccheri, Paola; Sabbadini, Gastone; Crivellato, Enrico

2011-08-01

We observed a complex atlas (C1) dysmorphism in a human medieval skeleton dug up from the sixth to the seventh century necropolis located in the north-eastern Italy. We analyzed such a dysmorphism in the light of pertinent literature and discussed the functional and clinical implications related to this type of C1 structural malformation. Macroscopical and CT-SCAN examinations of the atlas were carried out. Bone findings consisted of partial aplasia of the posterior arch of the C1 accompanied by a bilateral arcuate foramen. In addition, the spinous processes of C7 and T1 were found to be bifid. Although such abnormalities are supposed to be clinically inconspicuous, yet they may become challenging or even dangerous in the context of trauma. They may even complicate specific diagnostic or surgical procedures. In addition, they may cause a great number of symptoms, ranging from headache and neck pain to loss of postural muscle tone and consciousness, due to the close and complex relationship of bone structures with nerves, blood vessels, muscles, and ligaments. As a result, radiologists, clinicians, surgeons, and chiropractors should consider in their clinical reasoning the possibility that atlas dysmorphisms may occur.

Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

Science.gov (United States)

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.

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

Directory of Open Access Journals (Sweden)

Josef Finsterer

2012-03-01

Full Text Available  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 deformityin the father of the two. The half-brother additionally presented with hypertelorism, not previously reported in PMP22tandem-duplication carriers. The presented cases show that the tandem-duplication 17p11.2 may present with marked intra-familialphenotype 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.

postraumatic tibiofibula synostosis of the distal 1/3 of the leg

African Journals Online (AJOL)

DR. AMINU

limbs from the hip, and disjoint each by the knee and the ankle joints for maceration and ... that the fractures of the tibia and fibula and a severe hematoma around the interosseous ... four years after the injury but within that period he suffered ...

Clinicoroentgenological semiotics of chondroectodermal dysplasia (Ellis-van Creveld syndrome)

International Nuclear Information System (INIS)

Prokopenko, O.P.

1989-01-01

The paper is devoted to the description of a rare hereditary systemic skeletal disease-chondroectodermal dysplasia (CED). The clinical symptoms of CED are divided into 4 grupus. On the basis of 2 cases, symptoms of the affection of the locomotor system in patients with Ellis-van-Creveld syndrome are analyzed. An X-ray picture of hand and foot lesions is characterized not only by change in the shape, size, number and synostosis of some bones but also by marked reorganization of osseous tissue in the epimetaphysial regions. X-ray examination was shown to be the chief method for investigation of the osseous system

The articulations of the neurocranium in the postnatal skeleton of the domestic fowl (Gallus gallus domesticus).

Science.gov (United States)

Hogg, D A

1978-09-01

In the neurocranium of the domestic fowl the centres of ossification present at hatching and appearing susbequently have been investigated and illustrated. The controversy over centres around the orbit is reviewed and it is concluded that paired laterally placed pleurosphenoids are present by the time of hatching, while paired orbitosphenoids situated near the midline and dorsal to the optic foramen do not appear until between 70 and 91 days after hatching. No additional "presphenoid" centres were detected. The neurocranial articulations were studied: 27, many of them paired, were identified. The sequence and timing of synostosis were determined.

MEGALENCEPHALY, POLYMICROGYRIA, POLYDACTYLY AND HYDROCEPHALUS (MPPH) SYNDROME: A NEW CASE WITH OCCIPITAL ENCEPHALOCELE AND CLEFT PALATE.

Science.gov (United States)

Demir, N; Peker, E; Gülşen I; Kaba, S; Tuncer, O

2015-01-01

The megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome is quite rarely seen. The four main findings in this syndrome may be accompanied by severe psychomotor retardation, blindness, hypotonia, convulsions, and facial dysmorphism. In this paper, we present a female newborn at 39 weeks gestational age born to parents who are first degree cousins. Beside the facial dysmorphism and four main features of the MPPH syndrome, the findings on the physical examination of the patient were, hypertonicity, occipital encephalocele, cleft palate, and multiple polyps in the tongue. The presence of occipital encephalocele, cleft palate, and polyps in the tongue in this patient was not reported previously in the literature.

JUNE NJCP 2009 FINAL sp.cdr

African Journals Online (AJOL)

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distinctive facial dysmorphisms, mental retardation, cardiovascular ... reflected in gross cerebral dysmorphologies. These ... Williams syndrome is a rare congenital developmental disorder characterized by a constellation of distinctive.

A Newborn with Panhypopituitarism and Seizures.

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Kale, Trupti; Patil, Rachit; Pandit, Ramesh

2017-01-01

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

A Newborn with Panhypopituitarism and Seizures

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Trupti Kale

2017-01-01

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

Transmitted cytogenetic abnormalities in patients with mental retardation: pathogenic or normal variants?

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Bisgaard, Anne-Marie; Kirchhoff, Maria; Nielsen, Jens Erik

2007-01-01

Knowing the origin of cytogenetic abnormalities detected in individuals with mental retardation and dysmorphic features is essential to genetic counselling of affected families. To illustrate this, we report on six families with transmitted cytogenetic abnormalities and discuss the genotype...... generations and included interstitial deletions of 1p31.3-p32.1, 2q13, 10q11.21-q11.23, and 13q31.1; a duplication of 1p34.1-p34.2; and in one family both a deletion of 18q21.1 and a duplication of 4q35.1-q35.2. The probands were mentally retarded and had nonspecific dysmorphic features except for one patient...

Sonographic diagnosis of lissencephaly

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Motte, J.; Morville, P.; Gomes, H.; Cymbalista, M.

1987-07-01

Lissencephaly is a developmental malformation characterized by absence of sulci in dysmorphic or epileptic infants. Real time ultrasonographic findings correlated with typical electroencephalographic abnormalities established the diagnosis.

Familial deletion 18p syndrome: case report

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Lemyre Emmanuelle

2006-07-01

Full Text Available Abstract Background Deletion 18p is a frequent deletion syndrome characterized by dysmorphic features, growth deficiencies, and mental retardation with a poorer verbal performance. Until now, five families have been described with limited clinical description. We report transmission of deletion 18p from a mother to her two daughters and review the previous cases. Case presentation The proband is 12 years old and has short stature, dysmorphic features and moderate mental retardation. Her sister is 9 years old and also has short stature and similar dysmorphic features. Her cognitive performance is within the borderline to mild mental retardation range. The mother also presents short stature. Psychological evaluation showed moderate mental retardation. Chromosome analysis from the sisters and their mother revealed the same chromosomal deletion: 46, XX, del(18(p11.2. Previous familial cases were consistent regarding the transmission of mental retardation. Our family differs in this regard with variable cognitive impairment and does not display poorer verbal than non-verbal abilities. An exclusive maternal transmission is observed throughout those families. Women with del(18p are fertile and seem to have a normal miscarriage rate. Conclusion Genetic counseling for these patients should take into account a greater range of cognitive outcome than previously reported.

3p interstitial deletion including PRICKLE2 in identical twins with autistic features.

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Okumura, Akihisa; Yamamoto, Toshiyuki; Miyajima, Masakazu; Shimojima, Keiko; Kondo, Satoshi; Abe, Shinpei; Ikeno, Mitsuru; Shimizu, Toshiaki

2014-11-01

Microdeletion and microduplication syndromes without characteristic dysmorphic features are difficult to diagnose without chromosomal microarrays. We describe the clinical course and genetic findings of monozygotic twins with intellectual disabilities and autistic features associated with mild facial dysmorphism and microdeletion of chromosome 3p14. The postnatal course of the second twin was complicated by intestinal malrotation, whereas that of the first twin was unremarkable. Both twins had several mild dysmorphic features including upswept frontal hair, low-set posterior rotated ears, arched down-slanting eyebrows, prominent forehead, epicanthic folds, micrognathia, hypertelorism, broad nasal bridge, short philtrum, and camptodactyly of the bilateral fifth fingers. They had autistic features such as poor eye contact and no social smile, stereotyped behaviors, and preference for solitary play. Array comparative genomic hybridization analysis revealed de novo 6.88-Mb deletions of 3p14 (chr3: 60,472,496-67,385,119) involving 17 genes in both twins. The deleted region contained 17 genes, five of which are known or presumed to be related to central nervous system disorders: FEZF2, SYNPR, ATXN7, PRICKLE2, and MAGI1. We consider that PRICKLE2 is the most likely causative gene for the autistic features exhibited by these individuals. Copyright © 2014 Elsevier Inc. All rights reserved.

A report of two cases of Al-Awadi Raas-Rothschild syndrome (AARRS) supporting that "apparent" Phocomelia differentiates AARRS from Schinzel Phocomelia syndrome (SPS).

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AlQattan, Mohammad M; AlAbdulkareem, Ibrahim; Ballow, Mariam; Al Balwi, Mohammed

2013-09-15

Although there is a long list of syndromes with phocomelia, there are only two syndromes in which there is concurrent pelvic dysplasia and phocomelia: Al-Awadi-Raas-Rothschild syndrome (AARRS) and Schinzel phocomelia syndrome (SPS). Currently, there is a diagnostic confusion between the two syndromes and both have the same MIM entry (MIM 276820). We believe that the two syndromes are different entities and we also believe that the limb defect in SPS is a "true" phocomelia while the limb defect in AARRS is an "apparent" phocomelia. "Apparent" phocomelia describes the most severe form of ulnar ray deficiency in which there is absent ulna with radio-humeral synostosis. "Apparent" phocomelia is diagnosed radiologically by three radiological features: the apparently single bone occupying the arm/forearm appears relatively long, the area of radio-humeral synostosis will have thicker cortex with or without slight angulation, and the lower end of the bone resembles the lower end of a radius and not a humerus. In this paper, we present two new cases of AARRS from two different Saudi Arabian tribes: one case with R292C mutation of WNT7A with bilateral "apparent" phocomelia and a second case with a novel c.814G>T mutation of the WNT7A gene (resulting in wnt7a protein truncation at position 272) with unilateral "apparent" phocomelia. We reviewed previously reported cases of AARRS and SPS to further delineate the differences between these two syndromes. We make the argument that these two syndromes are two different entities and hence require two different MIM entries. Copyright © 2013 Elsevier B.V. All rights reserved.

Sonographic diagnosis of lissencephaly

International Nuclear Information System (INIS)

Motte, J.; Morville, P.; Gomes, H.; Cymbalista, M.

1987-01-01

Lissencephaly is a developmental malformation characterized by absence of sulci in dysmorphic or epileptic infants. Real time ultrasonographic findings correlated with typical electroencephalographic abnormalities established the diagnosis. (orig.)

Three-Dimensional post-myelographic CT reconstruction in the diagnosis and therapy planning for spinal development disorders; Dreidimensionale postmyelographische CT-Rekonstruktion in der Diagnostik und Therapieplanung spinaler Entwicklungsstoerungen

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Wicht, L. [Strahlenklinik und Poliklinik, Virchow Klinikum, Humboldt-Univ. zu Berlin (Germany); Schedel, H. [Strahlenklinik und Poliklinik, Virchow Klinikum, Humboldt-Univ. zu Berlin (Germany); Benndorf, G. [Strahlenklinik und Poliklinik, Virchow Klinikum, Humboldt-Univ. zu Berlin (Germany); Beier, J. [Strahlenklinik und Poliklinik, Virchow Klinikum, Humboldt-Univ. zu Berlin (Germany); Haberl, H. [Neurochirurgische Abt., Virchow-Klinikum, Humboldt-Univ. zu Berlin (Germany); Felix, R. [Strahlenklinik und Poliklinik, Virchow Klinikum, Humboldt-Univ. zu Berlin (Germany)

1996-05-01

Dysrhaphia is often associated with severe osseous aberrations of the spine such as, for example scoliosis, hemivertebra, and synostosis. With the advanced possibilities of the post-processing of CT-data (segmentation, three-dimensional reconstruction), post-myelo-CT is an excellent method for the evaluation of osseous structures and the myelon in preoperative planning. (orig.) [Deutsch] Dysraphien gehen haeufig mit ausgepraegten ossaeren Veraenderungen der Wirbelsaeule wie Skoliose, Halbwirbelbildungen und Synostosen einher. Mit den verbesserten Moeglichkeiten der Datennachbearbeitung (Segmentierung, 3D-dimensionale Rekonstruktion) stellt die postmyelographische Computertomographie vor allem bei komplexen Fehlbildungen ein geeignetes Verfahren zur praeoperativen Beurteilung der ossaeren Strukturen der Wirbelsaeule und des Myelons dar. (orig.)

Prenatal diagnosis of isochromosome 20q in a fetus with vertebral anomaly and rocker-bottom feet

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Aline Receveur

2017-10-01

Conclusion: The data would allow establishing a phenotype–genotype correlation. Thus, we proposed to define a recognizable syndrome combining cranio-facial dysmorphism, vertebral bodies' anomalies, feet and cerebral malformations.

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

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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.

Distal tibiofibular synostosis after ankle fracture. A 14-year follow-up study

NARCIS (Netherlands)

Albers, G. H.; de Kort, A. F.; Middendorf, P. R.; van Dijk, C. N.

1996-01-01

Over an eight-year period up to 1983, a total of 322 consecutive patients had operations for ankle fractures; 176 were Weber type B and 128 type C. We were able to review 230 of these patients after a mean follow-up of six years (1 to 11) including 128 with Weber B and 102 with Weber C fractures. We

Outcomes of Cognitive Behavioral Therapy (CBT) Interventions Provided by Unlicensed Professionals

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2018-05-04

Obsessive Compulsive Disorder; Body Dysmorphic Disorder; Tourette Syndrome; Trichotillomania; Panic Disorder; Social Phobia; Generalized Anxiety Disorder; Depression; Post-Traumatic Stress Disorder; Attention Deficit Hyperactivity Disorder; Eating Disorder; Specific Phobia; General Medical Condition

A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.

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Abdelhedi, Fatma; El Khattabi, Laila; Essid, Nouha; Viot, Geraldine; Letessier, Dominique; Lebbar, Aziza; Dupont, Jean-Michel

2016-07-01

Chromosomal microarray analysis has become a powerful diagnostic tool in the investigation of patients with intellectual disability leading to the discovery of dosage sensitive genes implicated in the manifestation of various genomic disorders. Interstitial deletions of the short arm of chromosome 10 represent rare genetic abnormalities, especially those encompassing the chromosomal region 10p11-p12. To date, only 10 postnatal cases with microdeletion of this region have been described, and all patients shared a common phenotype, including intellectual disability, abnormal behavior, distinct dysmorphic features, visual impairment, and cardiac malformations. WAC was suggested to be the main candidate gene for intellectual disability associated with 10 p11-p12 deletion syndrome. Here, we describe a new case of de novo 10p11.23-p12.1 microdeletion in a patient with intellectual disability, abnormal behavior, and distinct dysmorphic features. Our observation allows us to redefine the smallest region of overlap among patients reported so far, with a size of 80 Kb and which contains only the WAC gene. These findings strengthen the hypothesis that haploinsufficency of WAC gene might be likely responsible for intellectual disability and behavior disorders. Our data also led us to propose a clinical pathway for patients with this recognizable genetic syndrome depending on the facial dysmorphisms. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

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

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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.

Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex.

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Angelika Mühlebner

Full Text Available Tuberous Sclerosis Complex (TSC is a genetic hamartoma syndrome frequently associated with severe intractable epilepsy. In some TSC patients epilepsy surgery is a promising treatment option provided that the epileptogenic zone can be precisely delineated. TSC brain lesions (cortical tubers contain dysmorphic neurons, brightly eosinophilic giant cells and white matter alterations in various proportions. However, a histological classification system has not been established for tubers. Therefore, the aim of this study was to define distinct histological patterns within tubers based on semi-automated histological quantification and to find clinically significant correlations. In total, we studied 28 cortical tubers and seven samples of perituberal cortex from 28 TSC patients who had undergone epilepsy surgery. We assessed mammalian target of rapamycin complex 1 (mTORC1 activation, the numbers of giant cells, dysmorphic neurons, neurons, and oligodendrocytes, and calcification, gliosis, angiogenesis, inflammation, and myelin content. Three distinct histological profiles emerged based on the proportion of calcifications, dysmorphic neurons and giant cells designated types A, B, and C. In the latter two types we were able to subsequently associate them with specific features on presurgical MRI. Therefore, these histopathological patterns provide consistent criteria for improved definition of the clinico-pathological features of cortical tubers identified by MRI and provide a basis for further exploration of the functional and molecular features of cortical tubers in TSC.

Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex.

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Mühlebner, Angelika; van Scheppingen, Jackelien; Hulshof, Hanna M; Scholl, Theresa; Iyer, Anand M; Anink, Jasper J; van den Ouweland, Ans M W; Nellist, Mark D; Jansen, Floor E; Spliet, Wim G M; Krsek, Pavel; Benova, Barbora; Zamecnik, Josef; Crino, Peter B; Prayer, Daniela; Czech, Thomas; Wöhrer, Adelheid; Rahimi, Jasmin; Höftberger, Romana; Hainfellner, Johannes A; Feucht, Martha; Aronica, Eleonora

2016-01-01

Tuberous Sclerosis Complex (TSC) is a genetic hamartoma syndrome frequently associated with severe intractable epilepsy. In some TSC patients epilepsy surgery is a promising treatment option provided that the epileptogenic zone can be precisely delineated. TSC brain lesions (cortical tubers) contain dysmorphic neurons, brightly eosinophilic giant cells and white matter alterations in various proportions. However, a histological classification system has not been established for tubers. Therefore, the aim of this study was to define distinct histological patterns within tubers based on semi-automated histological quantification and to find clinically significant correlations. In total, we studied 28 cortical tubers and seven samples of perituberal cortex from 28 TSC patients who had undergone epilepsy surgery. We assessed mammalian target of rapamycin complex 1 (mTORC1) activation, the numbers of giant cells, dysmorphic neurons, neurons, and oligodendrocytes, and calcification, gliosis, angiogenesis, inflammation, and myelin content. Three distinct histological profiles emerged based on the proportion of calcifications, dysmorphic neurons and giant cells designated types A, B, and C. In the latter two types we were able to subsequently associate them with specific features on presurgical MRI. Therefore, these histopathological patterns provide consistent criteria for improved definition of the clinico-pathological features of cortical tubers identified by MRI and provide a basis for further exploration of the functional and molecular features of cortical tubers in TSC.

In Vitro Protective Effect of Phikud Navakot Extraction on Erythrocyte

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Kanchana Kengkoom

2016-01-01

Full Text Available Phikud Navakot (PN, Thai herbal remedy in National List of Essential Medicines, has been claimed to reduce many cardiovascular symptoms especially dizziness and fainting. Apart from blood supply, erythrocyte morphology, in both shape and size, is one of the main consideration factors in cardiovascular diseases and may be affected by vascular oxidative stress. However, little is known about antioxidative property of PN on erythrocyte to preserve red blood cell integrity. In this study, 1,000 μM hydrogen peroxide-induced oxidative stress was conducted on sheep erythrocyte. Three doses of PN (1, 0.5, and 0.25 mg/mL and 10 μM of ascorbic acid were compared. The released hemoglobin absorbance was measured to demonstrate hemolysis. Electron microscopic and immunohistochemical studies were also performed to characterize dysmorphic erythrocyte and osmotic ability in relation to aquaporin- (AQP- 1 expression, respectively. The results revealed that all doses of PN and ascorbic acid decreased the severity of dysmorphic erythrocyte, particularly echinocyte, acanthocyte, knizocyte, codocyte, clumping, and other malformations. However, the most effective was 0.5 mg/mL PN dosage. In addition, hydrostatic pressure may be increased in dysmorphic erythrocyte in association with AQP-1 upregulation. Our results demonstrated that PN composes antioxidative effect to maintain the integrity and osmotic ability on sheep erythrocyte.

Selective cognitive impairment and tall stature due to chromosome 19 supernumerary ring.

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Melis, Daniela; Genesio, Rita; Del Giudice, Ennio; Taurisano, Roberta; Mormile, Angela; D'Elia, Federica; Conti, Anna; Imperati, Floriana; Andria, Generoso; Nitsch, Lucio

2012-01-01

Small supernumerary marker chromosomes (sSMC) occur with a frequency of approximately 0.4 per 1000 newborns and are more frequent in the population with mental retardation and/or with dysmorphic signs. Small supernumerary chromosome rings (sSCR) usually occur as apart of a mosaic karyotype (Liehr et al., 2004). Chromosome 19 supernumerary rings are very rare. Almost all cases of sSMC19 have been reported on Thomas Liehr's website (http://www.med.uni-jena.de/fish/sSMC/19.htm#Start19). Of these cases, 14 were with phenotypic abnormalities and a clear characterization of the sSMC; two cases were suitable for comparison with our case with regard to their genetic content, but not with regard to the structure ofthe sSMC (Manvelyan et al., 2008). The phenotype, associated with partial trisomy 19q, includes facial dysmorphism, growth and mental retardation, macrocephaly, heart malformation and anomalies of the genitourinary and gastrointestinal tracts. The phenotype associated with partial trisomy 19p is characterized by dysmorphic features, severe mental retardation, abnormalities of brain morphology and anomalies of the fingers (Tercanli et al., 2000; Qorri et al., 2002; Novelli et al., 2005; Vraneković et al., 2008). Herein, we report the phenotype and molecular cytogenetic analysis in a patient with the smallest de-novo constitutional ring extended from the p12 to q12 region of chromosome 19.

The incidence of chromosome abnormalities in neonates with structural heart disease.

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Dykes, John C; Al-mousily, Mohammad F; Abuchaibe, Eda-Cristina; Silva, Jennifer N; Zadinsky, Jennifer; Duarte, Daniel; Welch, Elizabeth

2016-04-01

This study was conducted to determine the prevalence of chromosomal anomalies in newborns with structural heart disease admitted to the cardiac intensive care unit (CICU) at Nicklaus Children's Hospital (NCH). A retrospective review identified newborns age 30 days or less admitted to NCH CICU between 2004 and 2010. Patients with structural heart disease who required admission to our CICU and received karyotype or karyotype and fluorescent in situ hybridization (FISH) testing were included in the study. All patients were examined for the presence of dysmorphic features. Four hundred and eighty-two patients met the criteria for the study; 405 (84%) received both karyotype and FISH. Chromosome abnormalities were present in 86 (17.8%) patients. Syndromes accounted for 20 (5.1%) of those with normal chromosomes. Dysmorphic features were seen in 79.1% of patients with abnormal chromosomes and 25.5% of those with normal chromosomes. All patients with syndromes were dysmorphic. Race and gender did not significantly affect the incidence of genetic abnormalities. Chromosome abnormalities, including syndromes, are prevalent in newborns with congenital heart disease. Further research is needed to evaluate the utility of cytogenetic screening in all children with congenital heart disease. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

A critical evaluation of long-term aesthetic outcomes of fronto-orbital advancement and cranial vault remodeling in nonsyndromic unicoronal craniosynostosis.

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Taylor, Jesse A; Paliga, J Thomas; Wes, Ari M; Tahiri, Youssef; Goldstein, Jesse A; Whitaker, Linton A; Bartlett, Scott P

2015-01-01

This study reports long-term aesthetic outcomes with fronto-orbital advancement and cranial vault remodeling in treating unicoronal synostosis over a 35-year period. Retrospective review was performed on patients with isolated unicoronal synostosis from 1977 to 2012. Demographic, preoperative phenotypic, and long-term aesthetic outcomes data were analyzed with chi-squared and Fisher's exact test for categorical data and Wilcoxon rank-sum and Kruskal-Wallis rank for continuous data. A total of 238 patients were treated; 207 met inclusion criteria. None underwent secondary intervention for intracranial pressure. At definitive intervention, there 96 (55 percent) Whitaker class I patients, 11 (6 percent) class II, 62 (35 percent) class III, and six (3 percent) class IV. Nasal root deviation and occipital bossing each conferred an increased risk of Whitaker class III/IV [OR, 4.4 (1.4 to 13.9), p = 0.011; OR, 2.6 (1.0 to 6.8), p = 0.049]. Patients who underwent bilateral cranial vault remodeling with extended unilateral bandeau were less likely Whitaker class III/IV at latest follow-up compared with those undergoing strictly unilateral procedures [OR, 0.2 (0.1 to 0.7), p = 0.011]. Overcorrection resulted in decreased risk of temporal hollowing [OR, 0.3 (0.1 to 1.0), p = 0.05]. Patients with 5 years or more of follow-up were more likely to develop supraorbital retrusion [OR, 7.2 (2.2 to 23.4), p = 0.001] and temporal hollowing [OR, 3.7 (1.5 to 9.6), p = 0.006] and have Whitaker class III/IV outcomes [OR, 4.9 (1.8 to 12.8), p = 0.001]. Traditional fronto-orbital advancement and cranial vault remodeling appears to mitigate risk of intracranial pressure but may lead to aesthetic shortcomings as patients mature, namely fronto-orbital retrusion and temporal hollowing. Therapeutic, IV.

Use of computer-assisted design and manufacturing to localize dural venous sinuses during reconstructive surgery for craniosynostosis.

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Iyer, Rajiv R; Wu, Adela; Macmillan, Alexandra; Musavi, Leila; Cho, Regina; Lopez, Joseph; Jallo, George I; Dorafshar, Amir H; Ahn, Edward S

2018-01-01

Cranial vault remodeling surgery for craniosynostosis carries the potential risk of dural venous sinus injury given the extensive bony exposure. Identification of the dural venous sinuses can be challenging in patients with craniosynostosis given the lack of accurate surface-localizing landmarks. Computer-aided design and manufacturing (CAD/CAM) has allowed surgeons to pre-operatively plan these complex procedures in an effort to increase reconstructive efficiency. An added benefit of this technology is the ability to intraoperatively map the dural venous sinuses based on pre-operative imaging. We utilized CAD/CAM technology to intraoperatively map the dural venous sinuses for patients undergoing reconstructive surgery for craniosynostosis in an effort to prevent sinus injury, increase operative efficiency, and enhance patient safety. Here, we describe our experience utilizing this intraoperative technology in pediatric patients with craniosynostosis. We retrospectively reviewed the charts of children undergoing reconstructive surgery for craniosynostosis using CAD/CAM surgical planning guides at our institution between 2012 and 2016. Data collected included the following: age, gender, type of craniosynostosis, estimated blood loss, sagittal sinus deviation from the sagittal suture, peri-operative outcomes, and hospital length of stay. Thirty-two patients underwent reconstructive cranial surgery for craniosynostosis, with a median age of 11 months (range, 7-160). Types of synostosis included metopic (6), unicoronal (6), sagittal (15), lambdoid (1), and multiple suture (4). Sagittal sinus deviation from the sagittal suture was maximal in unicoronal synostosis patients (10.2 ± 0.9 mm). All patients tolerated surgery well, and there were no occurrences of sagittal sinus, transverse sinus, or torcular injury. The use of CAD/CAM technology allows for accurate intraoperative dural venous sinus localization during reconstructive surgery for craniosynostosis and

Disease: H01831 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available sorder that is characterized by mild to moderate intellectual disability and epilepsy, in the absence of significant diagnostic dysmo...rphic features. In most patients, seizures are drug resistant and characterized by

Disease: H00860 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available ory problems. Features supporting this diagnosis include normal general examination with no dysmorphic featu...ive skills, absence of other significant neurologic disturbances, and, with the exception of chorea, normal neurologic examination

[The Coffin-Siris syndrome. Description of 4 patients and a literature review].

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van Heyst, A F; Kollée, L A; Brunner, H G

1993-02-01

Four patients with Coffin-Siris syndrome are described. In addition a 30 cases are reviewed. The most frequent symptoms are dysmorphic features of the facies with sparse scalp hair, nail hypoplasia and mental retardation.

Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.

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Debost-Legrand, Anne; Goumy, Carole; Laurichesse-Delmas, Hélène; Déchelotte, Pierre; Beaufrère, Anne-Marie; Lémery, Didier; Francannet, Christine; Gallot, Denis

2013-12-01

Wolf-Hirschhorn syndrome (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, hypertelorism and severe mental retardation. WHS results from a 4p16.3 deletion. Only a small number of reports have been made on the prenatal ultrasound findings observed in WHS. Here we report our experience on 10 cases of WHS ascertained prenatally between 1983 and 2009 through the CEMC-Auvergne registry of congenital malformations. The assumption that a "Greek warrior helmet" facies is pathognomonic of WHS could lead to misdiagnosis. Other clinical findings such as severe and early onset intrauterine growth retardation, facial dysmorphism (high forehead, high nasal bridge, low-set ears, micrognathia, hypertelorism), atrial or ventricular septal defect, and renal dysplasia should help obstetricians to suspect the diagnosis of WHS prenatally. Copyright © 2013 Wiley Periodicals, Inc.

Morphological characteristics of urine erythrocytes in children with erythrocyturia

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V.A. Minakova

2017-09-01

Full Text Available Background. Nephropathies with erythrocyturia make up about 1/3 of all diseases of the kidneys and the urinary system, and they have some difficulties in differential diagnostics. Quite often, erythrocyturia is the only symptom of these diseases. In connection with this, determination of its origin is an important task in forming the correct diagnosis. Erythrocyturia in most diseases of the lower urinary tract is not accompanied by proteinuria or the presence of cylinders in the urine. The presence of proteinuria (more than 0.3 g/l or 1 g protein in urine per day, along with the appearance of erythrocytic cylinder in the urine sediment, raises suspicion in favor of glomerular or tubular diseases. Glomerular erythrocytes may be detected by means of urea concentration factor (UCF in the urinary sediment as a preliminary test for the determination of the erythrocyturia site. Erythrocytes that pass through the glomerular membrane have a changed form (dysmorphic. Determination of acanthocytes in the urine (ring-shaped erythrocytes with one or several bulges in the form of bubbles of different sizes and types is a more precise criterion of glomerular nephropathy than the presence of dysmorphic erythrocytes. The purpose of the study was to determine the morphological characteristics of urine erythrocytes in children with erythrocyturia, to improve the quality of differential diagnosis. Materials and methods. Determination of the morphological characteristics of urinary erythrocytes using UCF in 73 patients aged 1 to 18 years, of which 45 (61.6 % are patients with hematuric form of glomerulonephritis, 23 (31.5 % — with hereditary nephritis, and 5 (6.8 % — with dysmetabolic nephropathy. Detection of 50 to 80 % of dysmorphic erythrocytes in the urine sediment and finding in urine of more than 5 % of acanthocytes is a highly sensitive and specific diagnostic criterion for glomerular hematuria. Results. In children with a clinical diagnosis �

RESEARCH ARTICLE Application of high resolution SNP arrays in ...

Indian Academy of Sciences (India)

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found that 4 of them were inherited from a healthy parent and were considered to be .... retardation, skeletal problems and craniofacial dysmorphism; congenital cleft lip and palate and .... The authors declare no competing financial interests.

Genetics Home Reference: genitopatellar syndrome

Science.gov (United States)

... 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 ...

Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)

DEFF Research Database (Denmark)

Krøigård, Anne Bruun; Frost, Morten; Larsen, Martin Jakob

2016-01-01

Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1), or Taybi-Linder syndrome is characterized by distinctive skeletal dysplasia, severe intrauterine and postnatal growth retardation, microcephaly, dysmorphic features, and neurological malformations. It is an autosomal recessive...

Probable Opitz trigonocephaly C syndrome with medulloblastoma

Energy Technology Data Exchange (ETDEWEB)

Omran, H.; Hildebrandt, F.; Brandis, M. [Freiburg Univ. (Germany)] [and others

1997-04-14

We report on a patient with trigonocephaly, biparietal widening as a result of metopic synostosis, strabismus, upslanted palpebral fissures, apparently low-set ears with abnormal helices, deeply furrowed palate, postaxial polysyndactyly of the feet, ankle flexion deformities, cryptorchidism, loose skin, and severe mental retardation, findings compatible with a diagnosis of the Opitz trigonocephaly C syndrome (OTS). At the age of 12 years this patient presented with symptoms of raised intracranial pressure. A biopsy showed findings diagnostic of a medulloblastoma WHO Grade IV, an unprecedented finding in OTS. The possibility of coincidence should not prevent continued surveillance of OTS patients in the future for the occurrence of malignancy. 33 refs., 4 figs., 1 tab.

Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes

Directory of Open Access Journals (Sweden)

Juliana F. Mazzeu

2007-03-01

Full Text Available Chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in Pitt-Rogers-Danks syndrome (PRDS and Wolf-Hirschhorn syndrome (WHS, the former being considered a milder phenotype of the latter. We describe a patient with partial deletion of chromosome 4 and partial duplication of chromosome 8 documented by array-comparative genomic hybridization (Array-CGH. In addition to the typical features of PRDS, the patient exhibited some clinical signs (genital hypoplasia, radioulnar synostosis and mesomelic limb shortness infrequently, or never previously, reported in PRDS. These findings broaden the spectrum of anomalies generally associated with these syndromes.

RESEARCH NOTE Double trisomy (XXX+21 karyotype) in a six ...

Indian Academy of Sciences (India)

Claudia Talero Gutierrez

case of a six-year-old girl who presents multiple dysmorphic features ... selected from a database constructed in a previous study to evaluate Down ... In relation to language ... Her communication consisted mainly of some structured signs.

Descriptive epidemiology of Cornelia de Lange syndrome in Europe

DEFF Research Database (Denmark)

Barisic, Ingeborg; Tokic, Visnja; Loane, Maria

2008-01-01

Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations. We present...

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder

DEFF Research Database (Denmark)

Janssen, Rolf J R J; Distelmaier, Felix; Smeets, Roel

2009-01-01

Contiguous gene syndromes affecting the mitochondrial oxidative phosphorylation system have been rarely reported. Here, we describe a patient with apparent mitochondrial encephalomyopathy accompanied by several unusual features, including dysmorphism and hepatopathy, caused by a homozygous triple...

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

NARCIS (Netherlands)

Windpassinger, Christian; Piard, Juliette; Bonnard, Carine; Alfadhel, Majid; Lim, Shuhui; Bisteau, Xavier; Blouin, Stéphane; Ali, Nur'Ain B; Ng, Alvin Yu Jin; Lu, Hao; Tohari, Sumanty; Talib, S Zakiah A; van Hul, Noémi; Caldez, Matias J; Van Maldergem, Lionel; Yigit, Gökhan; Kayserili, Hülya; Youssef, Sameh A; Coppola, Vincenzo; de Bruin, Alain; Tessarollo, Lino; Choi, Hyungwon; Rupp, Verena; Roetzer, Katharina; Roschger, Paul; Klaushofer, Klaus; Altmüller, Janine; Roy, Sudipto; Venkatesh, Byrappa; Ganger, Rudolf; Grill, Franz; Ben Chehida, Farid; Wollnik, Bernd; Altunoglu, Umut; Al Kaissi, Ali; Reversade, Bruno; Kaldis, Philipp

2017-01-01

In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, and exome sequencing, we uncovered bi-allelic

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

NARCIS (Netherlands)

Herruer, J.M.; Prins, J.B.; Heerbeek, N. van; Verhage-Damen, G.W.; Ingels, K.J.A.O.

2015-01-01

BACKGROUND: 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

A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome)

NARCIS (Netherlands)

Brooks, AS; Breuning, MH; Osinga, J; Van der Smagt, JJ; Catsman, CE; Buys, CHCM; Meijers, C; Hofstra, RMW

Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these

Case Report - Facial dysmorphism, skeletal anomalies, congenital ...

African Journals Online (AJOL)

Our patient had mild mental retardation, growth retardation, microcephaly, hypertelorism, prominent peaked nose, high arched palate, mild micrognathia, low set posteriorly rotated ears, hirsutism, broad halluces, short 5th toe and dorsal kyphosis. However the antemongoloid slant and board thumbs and fingers were slightly ...

Subtypes of autism by cluster analysis based on structural MRI data.

Science.gov (United States)

Hrdlicka, Michal; Dudova, Iva; Beranova, Irena; Lisy, Jiri; Belsan, Tomas; Neuwirth, Jiri; Komarek, Vladimir; Faladova, Ludvika; Havlovicova, Marketa; Sedlacek, Zdenek; Blatny, Marek; Urbanek, Tomas

2005-05-01

The aim of our study was to subcategorize Autistic Spectrum Disorders (ASD) using a multidisciplinary approach. Sixty four autistic patients (mean age 9.4+/-5.6 years) were entered into a cluster analysis. The clustering analysis was based on MRI data. The clusters obtained did not differ significantly in the overall severity of autistic symptomatology as measured by the total score on the Childhood Autism Rating Scale (CARS). The clusters could be characterized as showing significant differences: Cluster 1: showed the largest sizes of the genu and splenium of the corpus callosum (CC), the lowest pregnancy order and the lowest frequency of facial dysmorphic features. Cluster 2: showed the largest sizes of the amygdala and hippocampus (HPC), the least abnormal visual response on the CARS, the lowest frequency of epilepsy and the least frequent abnormal psychomotor development during the first year of life. Cluster 3: showed the largest sizes of the caput of the nucleus caudatus (NC), the smallest sizes of the HPC and facial dysmorphic features were always present. Cluster 4: showed the smallest sizes of the genu and splenium of the CC, as well as the amygdala, and caput of the NC, the most abnormal visual response on the CARS, the highest frequency of epilepsy, the highest pregnancy order, abnormal psychomotor development during the first year of life was always present and facial dysmorphic features were always present. This multidisciplinary approach seems to be a promising method for subtyping autism.

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.

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Fritzen, Daniel; Kuechler, Alma; Grimmel, Mona; Becker, Jessica; Peters, Sophia; Sturm, Marc; Hundertmark, Hela; Schmidt, Axel; Kreiß, Martina; Strom, Tim M; Wieczorek, Dagmar; Haack, Tobias B; Beck-Wödl, Stefanie; Cremer, Kirsten; Engels, Hartmut

2018-05-01

Intellectual disability (ID) has an estimated prevalence of 1.5-2%. In most affected individuals, its genetic basis remains unclear. Whole exome sequencing (WES) studies have identified a multitude of novel causative gene defects and have shown that a large proportion of sporadic ID cases results from de novo mutations. Here, we present two unrelated individuals with similar clinical features and deleterious de novo variants in FBXO11 detected by WES. Individual 1, a 14-year-old boy, has mild ID as well as mild microcephaly, corrected cleft lip and alveolus, hyperkinetic disorder, mild brain atrophy and minor facial dysmorphism. WES detected a heterozygous de novo 1 bp insertion in the splice donor site of exon 3. Individual 2, a 3-year-old boy, showed ID and pre- and postnatal growth retardation, postnatal mild microcephaly, hyperkinetic and restless behaviour, as well as mild dysmorphism. WES detected a heterozygous de novo frameshift mutation. While ten individuals with ID and de novo variants in FBXO11 have been reported as part of larger studies, only one of the reports has some additional clinical data. Interestingly, the latter individual carries the identical mutation as our individual 2 and also displays ID, intrauterine growth retardation, microcephaly, behavioural anomalies, and dysmorphisms. Thus, we confirm deleterious de novo mutations in FBXO11 as a cause of ID and start the delineation of the associated clinical picture which may also comprise postnatal microcephaly or borderline small head size and behavioural anomalies.

The effects of growth hormone therapy on the somatic development of a group of Polish children with Silver-Russell syndrome.

Science.gov (United States)

Sienko, Magdalena; Petriczko, Elżbieta; Zajaczek, Stanislaw; Zygmunt-Gorska, Agata; Starzyk, Jerzy; Korpysz, Alicja; Petriczko, Jan; Walczak, Alicja; Walczak, Mieczysław

2017-12-01

Silver-Russell Syndrome is both clinically and genetically a heterogeneous syndrome. Among the most important dysmorphic features of this condition are: a triangular shaped face with a small mandible, a prominent frontal eminence, a thin vermilion border with downward-pointing lip corners, clino- and brachydactyly of the 5th fingers as well as body asymmetry. The most well-known genetic mutations in this syndrome are: the 11p15 epimutation (20-60% patients) and the maternal uniparental chromosome 7 disomy present in 7% to 15% of patients. Children with SRS have severely impaired physical growth - intrauterine and after birth. This, together with the aforementioned dysmorphic features, forms the main diagnostic criteria. The study group consisted of 12 children treated with growth hormone, aged 2 to 17 (8.9±4.0 years), therein, all of whom met the phenotype diagnostic criteria by Wollmann and Price. The effects of growth hormone therapy on somatic development of these children are also presented. Height and weight improved as a result of growth hormone treatment, but the effects were significantly worse than in children with IUGR. Children from the study group presented also a smaller an improvement in growth velocity than children from the control group, but the difference was statistically insignificant. Growth hormone therapy accelerates the growth of children with SRS but to a smaller extent than the growth of children born with intrauterine growth retardation without dysmorphic features.

Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes

NARCIS (Netherlands)

Roelofs, R.L.; Wingbermühle, P.A.M.; Freriks, K.; Verhaak, C.M.; Kessels, R.P.C.; Egger, J.I.M.

2015-01-01

Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The

Alexithymia, Emotion Perception, and Social Assertiveness in Adult Women with Noonan and Turner Syndromes

NARCIS (Netherlands)

Roelofs, R.L.; Wingbermühle, P.A.M.; Freriks, K.; Verhaak, C.M.; Kessels, R.P.C.; Egger, J.I.M.

2015-01-01

Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The

A restricted spectrum of NRAS mutations causes Noonan syndrome

NARCIS (Netherlands)

Cirstea, Ion C.; Kutsche, Kerstin; Dvorsky, Radovan; Gremer, Lothar; Carta, Claudio; Horn, Denise; Roberts, Amy E.; Lepri, Francesca; Merbitz-Zahradnik, Torsten; Koenig, Rainer; Kratz, Christian P.; Pantaleoni, Francesca; Dentici, Maria L.; Joshi, Victoria A.; Kucherlapati, Raju S.; Mazzanti, Laura; Mundlos, Stefan; Patton, Michael A.; Silengo, Margherita Cirillo; Rossi, Cesare; Zampino, Giuseppe; Digilio, Cristina; Stuppia, Liborio; Seemanova, Eva; Pennacchio, Len A.; Gelb, Bruce D.; Dallapiccola, Bruno; Wittinghofer, Alfred; Ahmadian, Mohammad R.; Tartaglia, Marco; Zenker, Martin

Noonan syndrome, a developmental disorder characterized by congenital heart defects, reduced growth, facial dysmorphism and variable cognitive deficits, is caused by constitutional dysregulation of the RAS-MAPK signaling pathway. Here we report that germline NRAS mutations conferring enhanced

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment .... and plasma factor VII coagulant activity in Asian Indian families predisposed to .... Tetrasomy 18p in a male dysmorphic child in southeast Turkey.

Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2

NARCIS (Netherlands)

Ofman, R.; Hettema, E. H.; Hogenhout, E. M.; Caruso, U.; Muijsers, A. O.; Wanders, R. J.

1998-01-01

Rhizomelic chondrodysplasia punctata (RCDP) is a genetic disorder which is clinically characterized by rhizomelic shortening of the upper extremities, typical dysmorphic facial appearance, congenital contractures and severe growth and mental retardation. Patients with RCDP can be subdivided into

Social cognition and the behavioural phenotype of 17q21.31 microdeletion syndrome

NARCIS (Netherlands)

Egger, J.I.M.; Wingbermühle, P.A.M.; Verhoeven, W.M.A.; Dijkman, M.W.; Kessels, R.P.C.; Koolen, D.A.

2012-01-01

Introduction Recently, the 17q21.31 microdeletion syndrome was described with characteristic features including developmental delay, moderate intellectual disability, facial dysmorphisms, and anomalies of the brain and multiple organ systems. With respect to behaviour, scarce data from clinical

Patienter med basalcellenævussyndrom bør tilbydes tidlig interdisciplinær opfølgning og behandling

DEFF Research Database (Denmark)

Bay, Christiane; Ousager, Lilian Bomme; Jelsig, Anne Marie

2016-01-01

cerebri. Other important clinical features are skeletal abnormalities and facial dysmorphism including macrocephaly. Germ-line mutations are found in PTCH1. Management of the syndrome requires a multidisciplinary approach, and in this article management guidelines are reviewed and discussed....

COLEC10 is mutated in 3MC patients and regulates early craniofacial development

DEFF Research Database (Denmark)

Munye, Mustafa M.; Diaz-Font, Anna; Ocaka, Louise

2017-01-01

3MC syndrome is an autosomal recessive heterogeneous disorder with features linked to developmental abnormalities. The main features include facial dysmorphism, craniosynostosis and cleft lip/palate; skeletal structures derived from cranial neural crest cells (cNCC). We previously reported...

Yunis-Varón syndrome caused by biallelic VAC14 mutations

NARCIS (Netherlands)

Lines, Matthew A.; Ito, Yoko; Kernohan, Kristin D.; Mears, Wendy; Hurteau-Miller, Julie; Venkateswaran, Sunita; Ward, Leanne; Khatchadourian, Karine; McClintock, Jeff; Bhola, Priya; Campeau, Philippe M.; Boycott, Kym M.; Michaud, Jean; van Kuilenburg, André Bp; Ferdinandusse, Sacha; Dyment, David A.

2017-01-01

Yunis-Varón syndrome (YVS) is an autosomal recessive disorder comprising skeletal anomalies, dysmorphism, global developmental delay and intracytoplasmic vacuolation in brain and other tissues. All hitherto-reported pathogenic variants affect FIG4, a lipid phosphatase involved in

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene

NARCIS (Netherlands)

Huijmans, Jan G. M.; Schot, Rachel; de Klerk, Johannis B. C.; Williams, Monique; de Coo, René F. M.; Duran, Marinus; Verheijen, Frans W.; van Slegtenhorst, Marjon; Mancini, Grazia M. S.

2017-01-01

We describe the clinical presentation and 17 years follow up of a boy, born to consanguineous parents and presenting with intellectual disability (ID), autism, "marfanoid" dysmorphic features, and moderate abnormalities of sulfite metabolism compatible with molybdenum cofactor deficiency, but normal

Phelan-McDermid syndrome in two adult brothers: Atypical bipolar disorder as its psychopathological phenotype?

NARCIS (Netherlands)

Verhoeven, W.M.A.; Egger, J.I.M.; Willemsen, M.H.; Leijer, G.J.M. de; Kleefstra, T.

2012-01-01

The 22q13.3 deletion, or Phelan-McDermid syndrome, is characterized by global intellectual disability, generalized hypotonia, severely delayed or absent speech associated with features of autism spectrum disorder, and minor dysmorphisms. Its behavioral phenotype comprises sleep disturbances,

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

NARCIS (Netherlands)

Verhoeven, W.M.; Egger, J.I.; Willemsen, M.H.; de Leijer, G.J.; Kleefstra, T.

2012-01-01

The 22q13.3 deletion, or Phelan-McDermid syndrome, is characterized by global intellectual disability, generalized hypotonia, severely delayed or absent speech associated with features of autism spectrum disorder, and minor dysmorphisms. Its behavioral phenotype comprises sleep disturbances,

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

NARCIS (Netherlands)

Komatsuzaki, Shoko; Aoki, Yoko; Niihori, Tetsuya; Okamoto, Nobuhiko; Hennekam, Raoul C. M.; Hopman, Saskia; Ohashi, Hirofumi; Mizuno, Seiji; Watanabe, Yoriko; Kamasaki, Hotaka; Kondo, Ikuko; Moriyama, Nobuko; Kurosawa, Kenji; Kawame, Hiroshi; Okuyama, Ryuhei; Imaizumi, Masue; Rikiishi, Takeshi; Tsuchiya, Shigeru; Kure, Shigeo; Matsubara, Yoichi

2010-01-01

Noonan syndrome is an autosomal dominant disease characterized by dysmorphic features, webbed neck, cardiac anomalies, short stature and cryptorchidism. It shows phenotypic overlap with Costello syndrome and cardio-facio-cutaneous (CFC) syndrome. Noonan syndrome and related disorders are caused by

Genotype and phenotype spectrum of NRAS germline variants

NARCIS (Netherlands)

Altmuller, F.; Lissewski, C.; Bertola, D.; Flex, E.; Stark, Z.; Spranger, S.; Baynam, G.; Buscarilli, M.; Dyack, S.; Gillis, J.; Yntema, H.G.; Pantaleoni, F.; Loon, R.L. van; MacKay, S.; Mina, K.; Schanze, I.; Tan, T.Y.; Walsh, M.; White, S.M.; Niewisch, M.R.; Garcia-Minaur, S.; Plaza, D.; Ahmadian, M.R.; Cave, H.; Tartaglia, M.; Zenker, M.

2017-01-01

RASopathies comprise a group of disorders clinically characterized by short stature, heart defects, facial dysmorphism, and varying degrees of intellectual disability and cancer predisposition. They are caused by germline variants in genes encoding key components or modulators of the highly

Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome

NARCIS (Netherlands)

Egger, J.I.M.; Wingbermühle, P.A.M.; Verhoeven, W.M.A.; Dijkman, M.W.; Radke, S.; Bruijn, E.R.A. de; Vries, B. de; Kessels, R.P.C.; Koolen, D.A.

2013-01-01

The 17q21.31 microdeletion syndrome with its characteristic features including developmental delay, moderate intellectual disability, facial dysmorphisms, and anomalies of the brain and multiple organ systems was recently described. As to its behavioral profile, scarce data from clinical

Investigation of a Patient With a Partial Trisomy 16q Including the Fat Mass and Obesity Associated Gene (FTO): Fine Mapping and FTO Gene Expression Study

NARCIS (Netherlands)

van den Berg, L.; Delemarre-van d Waal, H.A.; Han, J.C.; Ylstra, B.; Eijk, P.; Nesterova, M.; Heutink, P.; Stratakis, C.A.

2010-01-01

A female patient with a partial trisomy 16q was described previously. Her clinical characteristics included obesity, severe anisomastia, moderate to severe mental retardation, attention deficit hyperactivity disorder, dysmorphic facies, and contractions of the small joints. In this article, we

Expanded Mutational Spectrum in Cohen Syndrome, Tissue Expression, and Transcript Variants of COH1

NARCIS (Netherlands)

Seifert, Wenke; Holder-Espinasse, Muriel; Kuehnisch, Jirko; Kahrizi, Kimia; Tzschach, Andreas; Garshasbi, Masoud; Najmabadi, Hossein; Kuss, Andreas Walter; Kress, Wolfram; Laureys, Genevieve; Loeys, Bart; Brilstra, Eva; Mancini, Grazia M. S.; Dollfus, Helene; Dahan, Karin; Apse, Kira; Hennies, Hans Christian; Horn, Denise

Cohen syndrome is characterised by mental retardation, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Mutations in COH1 (VPS13B) have been found in patients with Cohen syndrome from diverse ethnic origins. We have carried out mutation

Array comparative genomic hybridization analysis of a familial duplication of chromosome 13q: A recognizable syndrome

NARCIS (Netherlands)

Mathijssen, Inge B.; Hoovers, Jan M. N.; Mul, Adri N. P. M.; Man, Hai-Yen; Ket, Jan L.; Hennekam, Raoul C. M.

2005-01-01

We report on a family with six persons in three generations who have mild mental retardation, behavioral problems, seizures, hearing loss, strabismus, dental anomalies, hypermobility, juvenile hallux valgus, and mild dysmorphic features. Classical cytogenetic analysis showed a partial duplication of

Epilepsy in KCNH1-related syndromes

NARCIS (Netherlands)

Mastrangelo, Mario; Scheffer, Ingrid E.; Bramswig, Nuria C.; Nair, Lal. D. V.; Myers, Candace T.; Dentici, Maria Lisa; Korenke, Georg C.; Schoch, Kelly; Campeau, Philippe M.; White, Susan M.; Shashi, Vandana; Kansagra, Sujay; Van Essen, Anthonie J.; Leuzzi, Vincenzo

Aim. KCNH1 mutations have been identified in patients with Zimmermann-Laband syndrome and Temple-Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dysmorphic facial features, nail hypo/aplasia, thumb

Phelan-McDermid syndrome in two adult brothers: Atypical bipolar disorder as its psychopathological phenotype?

NARCIS (Netherlands)

W.M.A. Verhoeven (Wim); J.I.M. Egger (Jos); M.H. Willemsen; G.J.M. de Leijer (Gert); T. Kleefstra (Tjitske)

2012-01-01

textabstractThe 22q13.3 deletion, or Phelan-McDermid syndrome, is characterized by global intellectual disability, generalized hypotonia, severely delayed or absent speech associated with features of autism spectrum disorder, and minor dysmorphisms. Its behavioral phenotype comprises sleep

Achondroplasia with multiple-suture craniosynostosis: a report of a new case of this rare association.

Science.gov (United States)

Bessenyei, Beáta; Nagy, Andrea; Balogh, Erzsébet; Novák, László; Bognár, László; Knegt, Alida C; Oláh, Eva

2013-10-01

We report on a female patient with an exceedingly rare combination of achondroplasia and multiple-suture craniosynostosis. Besides the specific features of achondroplasia, synostosis of the metopic, coronal, lambdoid, and squamosal sutures was found. Series of neurosurgical interventions were carried out, principally for acrocephaly and posterior plagiocephaly. The most common achondroplasia mutation, a p.Gly380Arg in the fibroblast growth factor receptor 3 (FGFR3) gene, was detected. Cytogenetic and array CGH analyses, as well as molecular genetic testing of FGFR1, 2, 3 and TWIST1 genes failed to identify any additional genetic alteration. It is suggested that this unusual phenotype is a result of variable expressivity of the common achondroplasia mutation. Copyright © 2013 Wiley Periodicals, Inc.

Intellectual profiles in KBG-syndrome: A Wechsler based case-control study

NARCIS (Netherlands)

Dongen, L.C.M. van; Wingbermühle, P.A.M.; Oomens, W.; Bos-Roubos, A.G.; Ockeloen, C.W.; Kleefstra, T.; Egger, J.I.M.

2017-01-01

KBG syndrome is a neurodevelopmental disorder (NDD) caused by loss-of-function of the ANKRD11 gene. The core phenotype comprises developmental delay/ intellectual disability and several specific facial dysmorphisms. In addition, both ADHD- and ASS-related symptoms have been mentioned. For the

Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization

NARCIS (Netherlands)

Van Langen, Irene M.; Otter, Mariëlle A.; Aronson, Daniël C.; Overweg-Plandsoen, W.C.G.; Hennekam, Raoul C.M.; Leschot, Nico J.; Hoovers, Jan M.N.

1996-01-01

We report on a boy with mild dysmorphic features and developmental delay, in whom karyotyping showed an additional minute ring chromosome in 60% of metaphases. Fluorescence in situ hybridization (FISH) with a centromere specific probe demonstrated that the ring chromosome contained the centromeric

Germline KRAS mutations cause Noonan syndrome.

NARCIS (Netherlands)

Schubbert, S.; Zenker, M.; Rowe, S.L.; Boll, S.; Klein, C.; Bollag, G.; Burgt, I. van der; Musante, L.; Kalscheuer, V.M.M.; Wehner, L.E.; Nguyen, H.; West, B.; Zhang, K.Y.; Sistermans, E.A.; Rauch, A.; Niemeyer, C.M.; Shannon, K.; Kratz, C.P.

2006-01-01

Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defects. Heterozygous mutations in PTPN11, which encodes SHP-2, cause approximately 50% of cases of Noonan syndrome. The SHP-2 phosphatase relays signals from activated receptor complexes to downstream

Three-dimensional face shape in Fabry disease

NARCIS (Netherlands)

Cox-Brinkman, Josanne; Vedder, Anouk; Hollak, Carla; Richfield, Linda; Mehta, Atul; Orteu, Kate; Wijburg, Frits; Hammond, Peter

2007-01-01

Facial dysmorphology is an important feature in several lysosomal storage disorders. Although in Fabry disease facial dysmorphism is not a prominent sign, minor facial abnormalities have been previously reported. By analysing three-dimensional images of faces, we quantified facial dysmorphology in a

Phelan-McDermid syndrome: clinical report of a 70-year-old woman

NARCIS (Netherlands)

Verhoeven, W.M.A.; Egger, J.I.; Cohen-Snuijf, R.; Kant, S.G.; Leeuw, N. de

2013-01-01

Phelan-McDermid or 22q13.3 deletion syndrome is characterized by global intellectual disability, childhood hypotonia, severely delayed or absent speech, features of autism spectrum disorder, without any major dysmorphisms or somatic anomalies. It is typically diagnosed before adolescence and data

Phelan-McDermid syndrome: Clinical report of a 70-year-old woman

NARCIS (Netherlands)

Verhoeven, W.M.A.; Egger, J.I.M.; Cohen-Snuijf, R.; Kant, S.G.; Leeuw, N. de

2013-01-01

PhelanMcDermid or 22q13.3 deletion syndrome is characterized by global intellectual disability, childhood hypotonia, severely delayed or absent speech, features of autism spectrum disorder, without any major dysmorphisms or somatic anomalies. It is typically diagnosed before adolescence and data

Case Report: Bilateral iris, choroid, optic nerve colobomas and ...

African Journals Online (AJOL)

Background: Baraitser–Winter syndrome (BRWS) is a malformation syndrome, characterized by facial dysmorphism, ocular colobomata, pachygyria, and intellectual defects. Case report: A 3.5 year old female child with BRWS has bilateral congenital ptosis, microcornea, iris, choroid, and optic nerve coloboma, retinal ...

Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?

NARCIS (Netherlands)

Ben-Shachar, S.; Khajavi, M.; Withers, M.A.; Shaw, C.A.; Bokhoven, J.H.L.M. van; Brunner, H.G.; Lupski, J.R.

2009-01-01

Mutations in ROR2, encoding a receptor tyrosine kinase, can cause autosomal recessive Robinow syndrome (RRS), a severe skeletal dysplasia with limb shortening, brachydactyly, and a dysmorphic facial appearance. Other mutations in ROR2 result in the autosomal dominant disease, brachydactyly type B

A Malay boy with the Cornelia de Lange syndrome: clinical and molecular findings

NARCIS (Netherlands)

Bhuiyan, Z. A.; Zilfalil, B. A.; Hennekam, R. C. M.

2006-01-01

The Cornelia de Lange syndrome is a multiple congenital anomaly syndrome characterised by dysmorphic facial features, hirsutism, severe growth and developmental delays, and malformed upper limbs. The prevalence is estimated to be one per 10,000. Recently, several independent groups proved that

Structure and function of collectin liver 1 (CL-L1) and collectin 11 (CL-11, CL-K1)

DEFF Research Database (Denmark)

Selman, Lana; Hansen, Soren

2012-01-01

to deficiencies have recently been identified as causative for 3MC syndrome. The 3MC syndrome is associated with a wide spectrum of developmental features including facial dysmorphism, cognitive impairment, hearing loss and vesicorenal anomalies. Similar polymorphic associations were reported for the mannan...

Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

DEFF Research Database (Denmark)

Wohlleber, Eva; Kirchhoff, Eva Maria; Zink, Alexander M

2011-01-01

Here, we present two patients with overlapping de novo microdeletions in chromosome 2p14-p15, mild mental retardation concerning especially language development, as well as mild dysmorphic features. Patient 1 also presented with generalized seizures, sensorineural hearing loss, and relative...

Physical Appearance Concern Questionnaire (PACQ in Iranian Population

Directory of Open Access Journals (Sweden)

Katayoun Khademi

2011-10-01

Full Text Available Objectives: The purpose of this study is to make questionnaire for screening body dysmorphic disorder sufferers in cosmetic clinics. Methods: A sample of 150 female patients with age average 29.4 years completed Physical Appearance Concern Questionnaire. It has been used as screening tool for screening patients with body dysmorphic disorder symptoms in cosmetic clinics. Results: Result of reliability analysis (α=0.908 and validity have shown the effectiveness of this questionnaire for recognizing individuals with BDD symptoms. Discussion: Physical appearance concern questionnaire can be used in cosmetic clinics for identifying BDD sufferers among clients, with score for the severity of symptoms. Almost all of the researches have been studying in cosmetic clinics or dermatology settings and there is no investigation for people with special needs, thus further research is required in the development of a screening questionnaire or interview for identifying patients with BDD with special needs.

Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

Science.gov (United States)

Pehlivan, Davut; Karaca, Ender; Aydin, Hatip; Beck, Christine R; Gambin, Tomasz; Muzny, Donna M; Bilge Geckinli, B; Karaman, Ali; Jhangiani, Shalini N; Gibbs, Richard A; Lupski, James R

2014-09-01

Whole-exome sequencing (WES) is a type of disruptive technology that has tremendous influence on human and clinical genetics research. An efficient and cost-effective method, WES is now widely used as a diagnostic tool for identifying the molecular basis of genetic syndromes that are often challenging to diagnose. Here we report a patient with a clinical diagnosis of cerebro-facio-thoracic dysplasia (CFTD; MIM#213980) in whom we identified a homozygous splice-site mutation in the transmembrane and coiled-coil domains 1 (TMCO1) gene using WES. TMCO1 mutations cause craniofacial dysmorphism, skeletal anomalies characterized by multiple malformations of the vertebrae and ribs, and intellectual disability (MIM#614132). A retrospective review revealed that clinical manifestations of both syndromes are very similar and overlap remarkably. We propose that mutations of TMCO1 are not only responsible for craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome but also for CFTD.

The Body Image Concern Inventory: validation in a multiethnic sample and initial development of a Spanish language version.

Science.gov (United States)

Littleton, Heather; Breitkopf, Carmen Radecki

2008-12-01

Dysmorphic appearance concern encompasses preoccupation with a perceived appearance defect, defect checking and camouflaging, and social avoidance. The current study sought to evaluate the internal consistency, factor structure, and convergent validity of a measure of dysmorphic appearance concern, the Body Image Concern Inventory, as well as evaluate the psychometric properties of a Spanish version of the instrument. Women recruited as part of a reproductive clinic-based clinical trial completed the BICI and other self-report measures of distress. A total of 1043 women completed the measures in English (M=29 years, range=18-55 years) and 573 women completed the measures in Spanish (M=32 years, range=18-55 years). Both the English and Spanish BICI were internally consistent and correlated moderately with measures of current psychological distress (STAI-S, CES-D). Confirmatory factor analyses replicated the measure's proposed factor structure. Applications of the BICI for future research are discussed.

Cohen syndrome diagnosed using microarray comparative genomic hibridization

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Saldarriaga-Gil, Wilmar

2017-10-01

Full Text Available Cohen syndrome (CS is an uncommon autosomal recessive genetic disorder attributed to damage on VPS13B gene, locus 8q22-q23. Characteristic phenotype consists of intellectual disability, microcephaly, facial dysmorphism, ophthalmic abnormalities, truncal obesity and hipotony. Worldwide, around 150 cases have been published, mostly in Finish patients. We report the case of a 3 year-old male, with short height, craniosynostosis, facial dysmorphism, hipotony, and developmental delay. He was diagnosed with Cohen syndrome using Microarray Comparative Genomic Hibridization (aCGH that showed homozygous deletion of 0.153 Mb on 8q22.2 including VPS13B gene, OMIM #216550. With this report we contribute to enlarge epidemiological databases on an uncommon genetic disorder. Besides, we illustrate on the contribution of aCGH to the etiological diagnosis of patients with unexplained intellectual disability, delayed psychomotor development, language difficulties, autism and multiple congenital anomalies.

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

Science.gov (United States)

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.

Intracranial calcification in Raine syndrome: radiological pathological correlation

International Nuclear Information System (INIS)

Al Mane, K.; Al-Dayel, F.; McDonald, P.

1998-01-01

We report the seventh known patient with Raine syndrome, a recently recognised, lethal sclerosing bone dysplasia associated with severe craniofacial dysmorphism and intracranial calcification in whom the CT findings are correlated with the gross and microscopic abnormalities found in the brain at autopsy. (orig.)

3-M syndrome: description of six new patients with review of the literature.

NARCIS (Netherlands)

Wal, G. van der; Otten, B.J.; Brunner, H.G.; Burgt, C.J.A.M. van der

2001-01-01

3-M syndrome combines pre- and postnatal growth retardation and dysmorphic facial features with autosomal recessive inheritance. Six new patients with 3-M syndrome are described and compared with 28 cases from the literature. Our six patients have a growth pattern, which parallels that of

Psychiatric Symptoms in Alpha-Mannosidosis

Science.gov (United States)

Malm, D.; Pantel, J.; Linaker, O. M.

2005-01-01

Alpha-mannosidosis is characterized by mild to moderate intellectual disability (ID), moderate to severe neurosensory hearing loss, frequent infections, psychomotor disturbances and skeletal dysmorphism. For the first time, a panel of nine alpha-mannosidosis patients with psychiatric symptoms is presented. The clinical picture has several…

The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

NARCIS (Netherlands)

Buggenhout, G.J.C.M. van; Ravenswaaij-Arts, C.M.A. van; Maas, N.; Thoelen, R.; Vogels, A.; Smeets, D.F.C.M.; Salden, I.; Matthijs, G.; Fryns, J.P.; Vermeesch, J.

2005-01-01

We report four patients with an interstitial deletion of chromosome 2q32-->2q33. They presented similar clinical findings including pre- and postnatal growth retardation, distinct facial dysmorphism, thin and sparse hair and fair built, micrognathia, cleft or high palate, relative macroglossia,

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.

NARCIS (Netherlands)

Spaapen, L.J.; Bakker, J.A.; Meer, S.B. van der; Sijstermans, H.J.; Steet, R.A.; Wevers, R.A.; Jaeken, J.

2005-01-01

Congenital disorders of glycosylation (CDG) represent a group of inherited multiorgan diseases caused by defects in the biosynthesis of glycoproteins. We report on two dysmorphic siblings with severe liver disease who died at the age of a few weeks. Increased activities of lysosomal enzymes in

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

DEFF Research Database (Denmark)

Grønskov, Karen; Poole, Rebecca L; Hahnemann, Johanne M D

2011-01-01

Silver-Russell syndrome (SRS) is characterised by prenatal and postnatal growth retardation, dysmorphic facial features, and body asymmetry. In 35-60% of SRS cases the paternally methylated imprinting control region (ICR) upstream of the H19 gene (H19-ICR) is hypomethylated, leading to downregula...

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

Science.gov (United States)

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.

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes

DEFF Research Database (Denmark)

Gil-Rodríguez, María Concepción; Deardorff, Matthew A; Ansari, Morad

2015-01-01

Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account ...

Multiple anomalies, hypokalaemic paralysis and partial symptomatic relief by terbutaline

DEFF Research Database (Denmark)

Djurhuus, M S; Klitgaard, N A; Jensen, B M

1998-01-01

In this paper a follow-up is presented of a case report initially described by Andersen in 1971. The patient presented with a syndrome including elements of familial periodic paralysis with hypokalaemia, long QT syndrome, ventricular ectopy, myopathy with fibre-type disproportion and dysmorphic...

Microdeletion in distal 17p13.1

DEFF Research Database (Denmark)

Zeesman, Susan; Kjaergaard, Susanne; Hove, Hanne Buciek

2012-01-01

Array comparative genomic hybridization has led to the identification of new syndromes by identifying genomic imbalances not detectable by standard karyotyping methods and by allowing correlations with physical findings. Deletions in the 17p13.1 region have been reported in patients with dysmorphic...

De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia

DEFF Research Database (Denmark)

Tos, T; Alp, M Y; Karacan, C D

2014-01-01

In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild facial dysmorphism, epilepsy, abnormal EEG and brain MRI findings consistent with focal cortical dysplasia. Interstitial...

Hereditary onycho-osteo dysplasia syndrome

Directory of Open Access Journals (Sweden)

Yadav T

1995-01-01

Full Text Available We report a two and a half year old male child with dystrophy of all the nails, absent patellae and iliac horns. In addition he had dysmorphic facial features, sparing of lunula and bilateral hallux valgus deformity, hitherto not reported earlier.

GAPO syndrome : a new case of this rare syndrome and a review of the relative importance of different phenotypic features in diagnosis

NARCIS (Netherlands)

Bacon, W; Hall, RK; Roset, JP; Boukari, A; Tenenbaum, H; Walter, B

1999-01-01

The case of GAPO syndrome reported here is the 24th recorded case, 23 cases having been published previously. The 29-year-old male under discussion presents all the typical features of the syndrome, having short stature, dysmorphic craniofacial features. total alopecia and pseudoanodontia. Orally,

Skin mastocytosis, hearing loss and mental retardation

NARCIS (Netherlands)

Hennekam, R. C.; Beemer, F. A.

1992-01-01

A girl with skin mastocytosis, hearing loss, microcephaly, mild dysmorphic features and severe mental retardation is described. The symptoms of the child resemble those reported in 1990 by Wolach et al. in another patient sufficiently to suspect the same entity in both. Inheritance may be autosomal

CDKL5 Mutations in Boys With Encephalopathy and Early-Onset Intractable Epilepsy

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J Gordon Millichap

2008-10-01

Full Text Available Clinical and EEG data of 3 Italian boys (ages 3, 9, and 13 years with severe early-onset encephalopathy, mental retardation, facial dysmorphisms, and intractable epilepsy were found to carry missense mutations in the CDKL5 gene, in a report from Troina, Italy.

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes

NARCIS (Netherlands)

Gil-Rodriguez, M.C.; Deardorff, M.A.; Ansari, M.; Tan, C.A.; Parenti, I.; Baquero-Montoya, C.; Ousager, L.B.; Puisac, B.; Hernandez-Marcos, M.; Teresa-Rodrigo, M.E.; Marcos-Alcalde, I.; Wesselink, J.J.; Lusa-Bernal, S.; Bijlsma, E.K.; Braunholz, D.; Bueno-Martinez, I.; Clark, D.; Cooper, N.S.; Curry, C.J.; Fisher, R.; Fryer, A.; Ganesh, J.; Gervasini, C.; Gillessen-Kaesbach, G.; Guo, Y.; Hakonarson, H.; Hopkin, R.J.; Kaur, M.; Keating, B.J.; Kibaek, M.; Kinning, E.; Kleefstra, T.; Kline, A.D.; Kuchinskaya, E.; Larizza, L.; Li, Y.R.; Liu, X.; Mariani, M.; Picker, J.D.; Pie, A.; Pozojevic, J.; Queralt, E.; Richer, J.; Roeder, E.; Sinha, A.; Scott, R.H.; So, J.; Wusik, K.A.; Wilson, L.; Zhang, J.; Gomez-Puertas, P.; Casale, C.H.; Strom, L.; Selicorni, A.; Ramos, F.J.; Jackson, L.G.; Krantz, I.D.; Das, S.; Hennekam, R.C.; Kaiser, F.J.; FitzPatrick, D.R.; Pie, J.

2015-01-01

Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for

Use of laryngeal mask airway for prolonged ventilatory support in a preterm newborn.

Science.gov (United States)

Fernández-Jurado, Ma Isabel; Fernández-Baena, Mariano

2002-05-01

We present the case report of a preterm, low weight newborn with dysmorphic features and micrognathia in whom a laryngeal mask airway was inserted and maintained for 44 h for ventilatory support after several failed intubations. No complications associated with laryngeal mask airway use were apparent.

Testicular cancer in a patient with Primrose syndrome

NARCIS (Netherlands)

Mathijssen, Inge B.; van Hasselt-van der Velde, Jos; Hennekam, Raoul C. M.

2006-01-01

A mentally retarded, adult man was found to have joint contractures, sparse body hair, hearing loss, dysmorphic facial features, large calcified pinnae and a huge torus palatinus. All features are similar to those earlier described in patients with Primrose syndrome. In addition he developed a germ

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects

DEFF Research Database (Denmark)

Koene, S; Rodenburg, R J; van der Knaap, M S

2012-01-01

cases and 126 from literature) with mutations in nuclear genes encoding structural complex I proteins or those involved in its assembly. Complex I deficiency caused by a nuclear gene defect is usually a non-dysmorphic syndrome, characterized by severe multi-system organ involvement and a poor prognosis...

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures

DEFF Research Database (Denmark)

Thevenon, Julien; Monnier, Nicole; Callier, Patrick

2014-01-01

, but not associated with a specific phenotype. We report on four patients with syndromic DLC presenting with a de novo 3p14.1p13 microdeletion. The clinical features associated multiple contractures, feeding problems, developmental delay, and intellectual disability. Facial dysmorphism was constant with low...

Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay

DEFF Research Database (Denmark)

Maegawa, Gustavo H B; Poplawski, Nicola K; Andresen, Brage Storstein

2008-01-01

We report on a 6-year-old girl who presented at 6 months of age with seizures, delayed psychomotor development and mild facial dysmorphism. A small muscular ventricular septal defect was documented on echocardiogram and brain MRI showed a frontal brain anomaly. Urine organic acid analysis revealed...

Sensory Motor and Functional Skills of Dizygotic Twins: One with Smith-Magenis Syndrome and a Twin Control

Science.gov (United States)

Smith, Michaele R.; Hildenbrand, Hanna; Smith, Ann C. M.

2009-01-01

Smith-Magenis syndrome (SMS), the result of an interstitial deletion within chromosome 17p11.2, is a disorder that may include minor dysmorphic features, brachydactyly, short stature, hypotonia, speech delays, cognitive deficits, signs of peripheral neuropathy, scoliosis, and neurobehavioral problems including sleep disturbances and maladaptive…

Sanjad-Sakati syndrome with macrocytic anemia and failure to thrive: a case from South Jordan.

Science.gov (United States)

Ajarmeh, Salma A; Al Tamimi, Eyad M

2018-03-01

Backgorund: Sanjad-Sakati syndrome (SSS) is a rare autosomal recessive disease caused by a deletion mutation (155-166del) in exon 3 of the TBCE gene on chromosome 1q42-43. The syndrome is characterized by primary hypoparathyroidism, typical dysmorphic features and severe growth retardation. We encountered a 2-year-old boy with hypocalcemia, failure to thrive and macrocytic anemia. The patient had the characteristic features of SSS and genetic testing confirmed that he was homozygous for the TBCE mutation. Although malabsorption was initially considered the cause of his symptoms, the results did not confirm that diagnosis. Our patient had cow milk protein allergy and folic acid deficiency, which has not been described in previous SSS cases. It was difficult to treat the patient's hyperphosphatemia and we ultimately selected sevelamer treatment, which was tolerated well and improved his hypocalcemia. SSS should be considered in the differential diagnosis of any infant with hypocalcemia, dysmorphism and failure to thrive.

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.

Science.gov (United States)

Pascolini, Giulia; Agolini, Emanuele; Majore, Silvia; Novelli, Antonio; Grammatico, Paola; Digilio, Maria Cristina

2018-05-01

A recent syndromic condition with craniofacial dysmorphisms, comprising congenital ocular defect and neurodevelopmental delay named Helsmoortel-Van der Aa Syndrome (HVDAS) (OMIM#615873), has been described and molecularly defined, identifying pathogenic mutations in the ADNP gene (OMIM#611386) as biological cause. We report on two children, displaying intellectual disability (ID) and peculiar congenital eyes anomalies, both carrying a de novo nonsense mutation in the ADNP gene. The review of present and literature reports, suggests that the diagnosis of HVDAS should be suspected in patients with ID accompanied by behavioral features in the Autism Spectrum Disorder and distinctive craniofacial phenotype. Among dysmorphisms due to malformation of the periorbital region, ptosis appears to be particularly recurrent in HVDAS. Furthermore, the present patients could support the inclusion of the HVDAS associated with specific mutations clustering within a small ADNP genomic region among clinical conditions reminiscent of the blepharophimosis/mental retardation syndromes (BMRS). Copyright © 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Avoiding Psychological Pitfalls in Aesthetic Medical Procedures.

Science.gov (United States)

Wang, Qiuyu; Cao, Chuan; Guo, Rui; Li, Xiaoge; Lu, Lele; Wang, Wenping; Li, Shirong

2016-12-01

To assess the prevalence of body dysmorphic disorder (BDD) in an aesthetic surgery setting in the region of Southwest China, and to ascertain the differences in terms of body images between patients in the aesthetic setting and general Chinese population. This study tracked patient satisfaction with their body image changes while undergoing aesthetic medical procedures to identify whether the condition of patients who were presenting with BDD symptoms or their psychological symptoms could be improved by enhancing their appearance. Additionally, this study explored whether there was improvement in quality of life (QoL) and self-esteem after aesthetic medical procedures. A total of 106 female patients who were undergoing aesthetic medical procedures for the first time (plastic surgery, n = 26; minimally invasive aesthetic treatment, n = 42; and aesthetic dermatological treatment, n = 38) were classified as having body dysmorphic disorder symptoms or not having body dysmorphic disorder symptoms, based on the body dysmorphic disorder examination (BDDE), which was administered preoperatively. These patients were followed up for 1 month after the aesthetic procedures. The multidimensional body self-relations questionnaire-appearance scales (MBSRQ-AS) and rosenberg self-esteem scale (RSE-S) were used to assess patients' preoccupation with appearance and self-esteem pre-procedure and 1 month post-procedure. Additionally, 100 female healthy control participants were recruited as a comparative group into this study and they were also assessed using BDDE, MBSRQ-AS, and RSE-S. A total of 14.2 % of 106 aesthetic patients and 1 % of 100 healthy controls were diagnosed with BDD to varying extents. BDDE scores were 72.83 (SD ± 30.7) and 68.18 (SD ± 31.82), respectively, before and after the procedure for the aesthetic patient group and 43.44 (SD ± 15.65) for the healthy control group (F = 34.28; p aesthetic patients (pre-procedure) and female adult norms from

Apert syndrome (acrocephalosyndactyly

Directory of Open Access Journals (Sweden)

Milovanović J.

2014-01-01

Full Text Available Apert syndrome is named for the French physician, Eugen Apert who was, in 1906. described anomalous shape of the skull with coronary suture synostosis and hypoplasia sphenoethmoidmaxillary part of the face and fingers syndactyly of hands and feet. Apert syndrome accounts for about 4,5% of all craniosynostosis. With the prevalence of 1:160 000-200 000, inherited in an autosomal domi­nant, and in 25% of cases are fresh mutations in the gene. This syndrome has no predilection by gender and race, varies in severity form in witch it is manifested. Anomality of internal organs are very rare, but half of the patients with this syndrome have mental retardation. Apert syndrome has no cure, but surgery can help to correct some of the problems.

Dental Management of a Patient with Nager Acrofacial Dysostosis

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R. Bozatlıoğlu

2015-01-01

Full Text Available Nager syndrome is a rare syndrome resulting from developmental abnormalities of the first and second branchial arches. Nager syndrome is rare and mostly sporadic. The main clinical features consist of craniofacial, limb, and musculoskeletal morphogenesis. These findings included malar hypoplasia, maxillomandibular hypoplasia, micrognathia, downslanting palpebral fissures, cleft palate, ear anomalies, hypoplastic thumb, short forearm, proximal radioulnar synostosis, atrial septal defect, lower limb deformities, and flat nasal bridge. The prevalence is unknown; about 100 cases of Nager syndrome have been published up to now. Patients with Nager syndrome are found worldwide among all racial and ethnic groups. Trismus and glossoptosis resulting in oropharyngeal airway narrowing cause life-threatening respiratory distress for patients with Nager syndrome. In this case report, dental rehabilitation of a 10-year-old child with Nager syndrome is presented.

Adolescence and Body Image.

Science.gov (United States)

Weinshenker, Naomi

2002-01-01

Discusses body image among adolescents, explaining that today's adolescents are more prone to body image distortions and dissatisfaction than ever and examining the historical context; how self-image develops; normative discontent; body image distortions; body dysmorphic disorder (BDD); vulnerability of boys (muscle dysmorphia); who is at risk;…

Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 -10p15.1 and 6q22.31 duplication.

Science.gov (United States)

Jones, Kevin; Weiss, Shelly K; Minassian, Berge

2016-07-01

Patients presenting with infantile spasms, dysmorphic features, and periventricular nodular heterotopia may benefit from genetic copy number variation microarray, or whole-exome sequencing to identify candidate genes. This will allow personalized diagnosis and prognostication and the eventual understanding of single and combined gene functions in brain health and disease.

Frontonasal dysplasia Sequence : A case report | Bello | Nigerian ...

African Journals Online (AJOL)

It affects mainly the head and face. Cause is unknown but may be sporadic or familial. We report a rare case of a full term baby who presented with classical features of FND in Maiduguri, Nigeria. Management difficulty in resource limited setting is highlighted. Key words: Dysmorphism, Frontonasaldysplasia, Neonate.

Bleachorexia-an addictive behavior to tooth bleaching: a case report.

Science.gov (United States)

Lee, Denzel Kun-Tsung; Kastl, Cameron; Chan, Daniel C N

2018-05-01

Bleachorexia, addiction to tooth bleaching, is a behavioral disorder similar to anorexia. The patient feels that their teeth are always not white enough and continues to use whiteners to obtain a "perfect" smile. Such behavior falls under the category of a body dysmorphic disorder and may need medical counseling.

Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome

DEFF Research Database (Denmark)

Boyle, Martine Isabel; Jespersgaard, Cathrine; Nazaryan, Lusine

2015-01-01

Deletions within 11q12.3-11q13.1 are very rare and to date only two cases have been described in the literature. In this study we describe a 23-year-old male patient with intellectual disability, behavioral problems, dysmorphic features, dysphagia, gastroesophageal reflux and skeletal abnormalities...

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

DEFF Research Database (Denmark)

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

2008-01-01

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

A Novel Pseudo-Dicentric Variant of 16p11.2-q11.2 Contains Euchromatin from 16p11.2-p11.1 and Resembles Pathogenic Duplications of Proximal 16q

DEFF Research Database (Denmark)

Barber, J C K; Brasch-Andersen, Charlotte; Maloney, V K

2012-01-01

An unusually large G-light band between 2 G-dark bands in the proximal long arm of chromosome 16 was found in a boy of 5 years of age ascertained with growth retardation, microcephaly, and dysmorphic features. Dual color bacterial artificial chromosome fluorescence in situ hybridization (BAC FISH...

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11

DEFF Research Database (Denmark)

Tzschach, Andreas; Bisgaard, Anne-Marie; Kirchhoff, Maria

2010-01-01

feeding problems, facial dysmorphisms and profound mental retardation. Patients 2 and 3 had nearly identical deletions of 3.2 and 3.6 Mb, the proximal breakpoints of which were located at an identical low-copy repeat. Both patients were mentally retarded; patient 3 also suffered from growth retardation...

11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report

DEFF Research Database (Denmark)

Almind, Gitte J; Brøndum-Nielsen, Karen; Bangsgaard, Regitze

2009-01-01

, bilateral ptosis, genital abnormalities, seizures and a dysmorphic face. Cytogenetic analysis showed a deletion on 11p that was further characterized using FISH and MLPA analyses. The deletion (11p13-p12) located in the area between the deletions associated with the WAGR and Potocki-Shaffer syndromes had...

Interstitial deletion of the short arm of chromosome 3. Fetal pathology and exclusion of the gene for beta-galactosidase-1 (GLB-1) from 3(p11----p14.2)

DEFF Research Database (Denmark)

Hertz, Jens Michael; Coerdt, W; Hahnemann, N

1988-01-01

A de novo interstitial deletion of the short arm of chromosome 3 was prenatally diagnosed in a male fetus, karyotype 46,XY,del(3)(pter----p14.2::p11----qter). The fetus had craniofacial dysmorphisms, a single transverse palmar crease, ulnar deviation in the wrists, cardiovascular anomalies...

A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth

DEFF Research Database (Denmark)

Jelsig, Anne Marie; Brasch Andersen, Charlotte; Kibæk, Maria

2012-01-01

We present a de novo 1.4 Mb deletion of chromosome 19p13.11-p13.12 in a 16 year old boy with intellectual disability, autistic features, microcephaly, hearing impairment, hypertrichosis, synophrys, protruding front teeth, and other dysmorphic features. By comparing our patient to reported cases...

Cardiofaciocutaneous syndrome: A rare entity

Directory of Open Access Journals (Sweden)

S Pavithra

2012-01-01

Full Text Available The cardiofaciocutaneous (CFC syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation and characteristic dysmorphic features. We, thus, report a rare case of this syndrome in a 1-year-old child who presented with typical features of CFC syndrome.

Classical cornelia de lange syndrome | Badoe | Ghana Medical ...

African Journals Online (AJOL)

These two case reports illustrate the importance of doing a thorough dysmorphology examination for all so called “Multiple congenital anomalies” children and attempting to fit them into a recognized syndrome. Well over 2000 dysmorphic syndromes are now recognized and diagnosis of these children can be extremely ...

Derivative 11;22 (Emanuel Syndrome: A Case Report and A Review

Directory of Open Access Journals (Sweden)

Madan Gopal Choudhary

2013-01-01

Full Text Available Emanuel syndrome (ES is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Here, we report a male neonate, with the classical features of Emanuel syndrome.

Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation

Directory of Open Access Journals (Sweden)

Orsini Alessandro

2010-02-01

Full Text Available Abstract Aims We will discuss the clinical and genetic diagnosis of a child with severe psychomotor delay, who at 3 years of age presented with paroxysms of hyperpnea-apnea and seizures unrelated to breathing anomalies. Methods The child underwent genetic (karyotype, FISH telomeres and neuroradiological (cranial CT and MRI tests, which proved to be normal. He came under our clinical observation at 3 years and 5 months of age. Due to severe psychomotor delay and facial dysmorphisms we completed the genetic investigations based on his clinical feature and analysis of the available literature. Results The presence of severe mental retardation associated with anomalous breathing pattern may suggest the Joubert and Rett syndrome, however these were excluded on the basis of clinical and genetic examination. Angelman syndrome, suspected for facial dysmorphisms and absent language, was also excluded because of the presence of a normal pattern of methylation at SNRPN locus. Another possible diagnosis was the Pitt-Hopkins Syndrome (PHS, characterized by severe mental retardation, breathing anomalies (paroxisms of hyperpnea-apnea, dysmorphisms and sometimes epilepsy. Haploinsufficiency of TCF4 gene located at 18q21.2 region has been recently identified as causative of this syndrome. In our patient the research of TCF4 mutation by the Institute of Human Genetics, University Hospital Erlangen (Germany, showed a de novo mutation. Conclusions The diagnosis of Pitt-Hopkins syndrome, an underdiagnosed cause of mental retardation, was based on clinical and genetic findings. Searching for TCF4 mutations is highly recommended when others overlapping syndromes was excluded. At our knowledge our patient is the first italian case of PHS diagnosed at molecular level.

[Synostosis and tarsal coalitions in children. A study of 68 cases in 47 patients].

Science.gov (United States)

Rouvreau, P; Pouliquen, J C; Langlais, J; Glorion, C; de Cerqueira Daltro, G

1994-01-01

The authors report their experience with tarsal coalitions in children. The purpose of this study was to discuss the origins of the of the calcaneum, and to propose a simple therapeutic strategy for diagnosis and treatment. The study included 47 children (68 feet), with one or more idiopathic tarsal coalitions. All patients had physical examinations to record symptoms, morphology of the foot, mobility of the foot, gait analysis, standard radiographs, and in some cases CT scans or MRI. The average age of the patients was 11.5 years old, 7 patients had a positive family history for tarsal coalitions. 66 per cent of the patients had mild tarsal pain or a history of repeated ankle sprains. The conservative treatment concerned 28 feet: 3 casts, 2 injections of corticosteroids into the subtalar joint, insole-shoes in 3 cases, and abstention in 20 cases. The operative treatment (40 feet) consisted of resection of calcaneonavicular coalitions (24 feet) resection of talocalcaneal coalitions (3 feet), mediotarsal and subtalar arthrodesis (8 feet), resection of calcaneonavicular coalition combined with the "Cavalier'' procedure described by Judet (3 feet), calcaneal osteotomy (2 feet). The mean follow-up was 42 months. The morphology of the involved foot was normal in 33 cases, flat foot was seen in 24 cases (4 peroneal spastic flat feet), pes cavus in 3 cases, club foot in 2 cases, pes varus in 4 cases, "Z'' shaped feet in 2 cases. The radiological examination was demonstrative of tarsal coalition in 61 feet. 7 tarsal coalitions were seen during operative procedures. The location or the coalition was calcaneonavicular (57), talocalcaneal (16), talo-navicular (8), calcaneo-cuboid (7), naviculo-cuneiform (4). The secondary radiographic signs were studied for each foot. In the conservative group, 2 patients degraded their clinical status, one developed a spastic flat foot. In the surgical group, all except 2 patients had good clinical and functional results. One patient had persistent pain in the subtalar joint after a technically correct calcaneonavicular resection. One patient had recurrent spastic flat foot following isolated talocalcaneal resection in a foot presenting multiple tarsal coalitions. This patient was reoperated by a mediotarsal and subtalar arthrodesis with a good result. The authors believe that tarsal coalitions have to be recognized based on a history of repeated ankle sprains or subtalar pain. Pain radiographs are diagnostic in most cases. CT scans and MRI are useful when radiographs are negative, especially in young children, or for talocalcaneal coalitions. The authors believe that the "the too long anterior process'' of the calcaneum in calcaneonavicular coalition has the same embryologic origin. Operative treatment is suitable, when tarsal coalitions are symptomatic or after failure of conservative treatment. Resection gives good results with calcaneonavicular coalitions and selected talocalcaneal coalitions. The mediotarsal and subtalar arthrodesis is suitable in spastic flat foot, or when the bony-bridge is too big, or when the involved joint presents degenerative changes in these cases, the MRI is very useful to select patient for resection or for arthrodesis. Evocative history and plain radiographs are diagnostic of most tarsal-coalitions. Modern imagery is useful for difficult diagnostics, for young children, or for evaluation of a joint before resection or arthrodesis. Resection is a good treatment for calcaneonavicular coalitions and gives good results for talocalcaneal coalitions in selected patients.

Interstitial deletion 1p as a result of a de novo reciprocal 1p;2p translocation

DEFF Research Database (Denmark)

Hertz, Jens Michael; Jensen, P H

1985-01-01

A 5-month-old female patient with psychomotor retardation and minor dysmorphisms is described. Cytogenetic analysis using high-resolution banding technique revealed an interstitial deletion of the short arm of one chromosome 1 (p21----p22.2) resulting from a de novo translocation t(1;2)(p22;p25)....

Double trisomy (XXX+21 karyotype) in a six-year-old girl with down ...

Indian Academy of Sciences (India)

LAURA DANIELA VERGARA-MENDEZ

2018-03-19

Mar 19, 2018 ... Abstract. We describe a case of a six-year-old girl who presents multiple dysmorphic features ... Bowel and bladder controls were ... had a normal standing posture; however, activities such as ... familiar adults, ask for help when needed, establish a rela- ... The girl walked independently, ran without falling,.

Cryptorchidism due to chromosome 5q inversion duplication.

Science.gov (United States)

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.

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

We describe a case of a six-year-old girl who presents multiple dysmorphic features characteristic of Down's syndrome. She has a significant general developmental delay, with a score that correspond to 32 months of developmental age. This delay is especially in language, with a very scant vocabulary. She communicates ...

Frequency of fragile-x in x‑linked mental retardation

African Journals Online (AJOL)

... with isolated mental retardation or autism of unknown etiology with considerable fragile X dysmorphic features or established family history of fragile X syndrome, chromosomal study that identifies the fragile site at Xq27.3 in addition to other cytogenetic abnormalities could be useful or early diagnosis and intervention by ...

Partial trisomy 13 in an infant with a mild phenotype: application of fluorescence in situ hybridization in cytogenetic syndromes.

Science.gov (United States)

Begovic, D; Hitrec, V; Lasan, R; Letica, L; Baric, I; Sarnavka, V; Galic, S

1998-06-01

We report on a month-old infant with dysmorphic face and several anomalies known to be associated with trisomy 13. Fluorescence in situ hybridization (FISH) studies performed on metaphase cells allowed us to identify an extra material on the short arm of the chromosome 13 as a duplication of 13q22-qter.