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Sample records for radial dysplasia dysmorphic

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

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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.
Congenital distal humeral dysplasia: a case report

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Joseph, Benjamin; Varghese, Renjit A.

2003-01-01

Congenital dysplasia of the humerus is very rare. It is characteristically seen in omodysplasia and has also been reported as one of the associated features of Larsen's syndrome. We report a 4-year-old girl with bilateral humero-ulnar dysplasia, with dislocation of the elbows, facial dysmorphism, ball-and-socket ankles and foot deformities. Although the elbow dysplasia is similar to that seen in Larsen's syndrome, other pathognomic features of Larsen's syndrome were absent. The changes seen in the elbows in this patient are also different from those encountered in omodysplasia. We believe that this condition may be a distinct form of skeletal dysplasia hitherto undescribed. (orig.)
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
A distinct subtype of ''metatropic dysplasia variant'' characterised by advanced carpal skeletal age and subluxation of the radial heads

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Nishimura, G.; Satoh, Masato; Aihara, Toshinori; Aida, Noriko; Yamamoto, Takehisa; Ozono, Keiichi

1998-01-01

Background. ''Metatropic dysplasia variants'' are a group of bone dysplasias whose skeletal abnormalities are similar to, but milder than, those of classical metatropic dysplasia. The genetic and phenotypic heterogeneity has not been thoroughly elucidated. Objective. The objective was to designate a distinct subtype of these metatropic dysplasia variants. Materials and methods. The subjects were four Japanese patients, two sporadic cases and two siblings, who all had identical skeletal changes. The radiological features in these patients were compared with those of previously reported metatropic dysplasia variants. Results. Moderate platyspondyly with pear-shaped and/or anterior-tongued vertebral bodies, halberd pelvis, and dumbbell deformity of the tubular bones were regarded as hallmarks of metatropic dysplasia variants. The peculiar skeletal change in our patients was advanced carpal skeletal age in childhood, unlike most patients reported as metatropic dysplasia variants who manifest delayed carpal ossification. Another hallmark was congenital dislocation of the radial heads. A description of a patient with similar skeletal changes was found in the literature. Conclusion. These patients are considered to represent a distinct subgroup of metatropic dysplasia variants. It remains unknown whether the present siblings represent an autosomal recessive trait or an autosomal dominant trait with germinal mosaicism related to increased paternal age. (orig.)
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.
Upper-extremity phocomelia reexamined: a longitudinal dysplasia.

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Goldfarb, Charles A; Manske, Paul R; Busa, Riccardo; Mills, Janith; Carter, Peter; Ezaki, Marybeth

2005-12-01

In contrast to longitudinal deficiencies, phocomelia is considered a transverse, intercalated segmental dysplasia. Most patients demonstrate severe, but not otherwise classifiable, upper-extremity deformities, which usually cannot be placed into one of three previously described phocomelia groups. Additionally, these phocomelic extremities do not demonstrate true segmental deficits; the limb is also abnormal proximal and distal to the segmental defect. The purpose of this investigation was to present evidence that upper-extremity abnormalities in patients previously diagnosed as having phocomelia in fact represent a proximal continuum of radial or ulnar longitudinal dysplasia. The charts and radiographs of forty-one patients (sixty extremities) diagnosed as having upper-extremity phocomelia were reviewed retrospectively. On the basis of the findings on the radiographs, the disorders were categorized into three groups: (1) proximal radial longitudinal dysplasia, which was characterized by an absent proximal part of the humerus, a nearly normal distal part of the humerus, a completely absent radius, and a radial-sided hand dysplasia; (2) proximal ulnar longitudinal dysplasia, characterized by a short one-bone upper extremity that bifurcated distally and by severe hand abnormalities compatible with ulnar dysplasia; and (3) severe combined dysplasia, with type A characterized by an absence of the forearm segment (i.e., the radius and ulna) and type B characterized by absence of the arm and forearm (i.e., the hand attached to the thorax). Twenty-nine limbs in sixteen patients could be classified as having proximal radial longitudinal dysplasia. Systemic medical conditions such as thrombocytopenia-absent radius syndrome were common in those patients, but additional musculoskeletal conditions were rare. Twenty limbs in seventeen patients could be classified as having proximal ulnar longitudinal dysplasia. Associated musculoskeletal abnormalities, such as proximal femoral
Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia

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Grattan-Smith, J.D. [Emory University School of Medicine, Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Little, Stephen B. [Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Jones, Richard A. [Emory University School of Medicine, Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States)

2008-01-15

MR urography has the potential to significantly improve our understanding of the relationship between reflux nephropathy, pyelonephritis, vesicoureteric reflux and renal dysplasia. MR urography utilizes multiple parameters to assess both renal anatomy and function and provides a more complete characterization of acquired and congenital disease. Pyelonephritis and renal scarring can be distinguished by assessing the parenchymal contours and signal intensity. Characteristic imaging features of renal dysplasia include small size, subcortical cysts, disorganized architecture, decreased and patchy contrast enhancement as well as a dysmorphic pelvicalyceal system. Because of its ability to subdivide and categorize this heterogeneous group of disorders, it seems inevitable that MR urography will replace DMSA renal scintigraphy as the gold standard for assessment of pyelonephritis and renal scarring. MR urography will contribute to our understanding of renal dysplasia and its relationship to reflux nephropathy. (orig.)
Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia

International Nuclear Information System (INIS)

Grattan-Smith, J.D.; Little, Stephen B.; Jones, Richard A.

2008-01-01

MR urography has the potential to significantly improve our understanding of the relationship between reflux nephropathy, pyelonephritis, vesicoureteric reflux and renal dysplasia. MR urography utilizes multiple parameters to assess both renal anatomy and function and provides a more complete characterization of acquired and congenital disease. Pyelonephritis and renal scarring can be distinguished by assessing the parenchymal contours and signal intensity. Characteristic imaging features of renal dysplasia include small size, subcortical cysts, disorganized architecture, decreased and patchy contrast enhancement as well as a dysmorphic pelvicalyceal system. Because of its ability to subdivide and categorize this heterogeneous group of disorders, it seems inevitable that MR urography will replace DMSA renal scintigraphy as the gold standard for assessment of pyelonephritis and renal scarring. MR urography will contribute to our understanding of renal dysplasia and its relationship to reflux nephropathy. (orig.)
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.
Radiographic diagnosis of a rare case of oculo-dento-digital dysplasia

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Umesh Chandra Parashari

2011-12-01

Full Text Available Oculodentodigital dysplasia (ODDD, also known as oculodento-osseous dysplasia, is an extremely rare autosomal dominant disorder with high penetrance, intra- and interfamilial phenotypic variability, and advanced paternal age in sporadic cases. The incidence of this disease is not precisely known, with only 243 cases reported in the scientific literature, suggesting an incidence of around 1 in 10 million people. It is marked mainly by eye abnormalities, craniofacial dysmorphism, dental anomalies, hand and foot malformations, various skeletal defects, and mildly delayed mental development. Neurological changes may appear earlier in each subsequent generation. This case report describes a radiological diagnosis of ODDD based on physical appearance, clinical features and radiographic findings in a 16-year-old girl.
Sirenomelia with radial dysplasia.

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Kulkarni, M L; Abdul Manaf, K M; Prasannakumar, D G; Kulkarni, Preethi M

2004-05-01

Sirenomelia is a rare anomaly usually associated with other multiple malformations. In this communication the authors report a case of sirenomelia associated with multiple malformations, which include radial hypoplasia also. Though several theories have been proposed regarding the etiology of multiple malformation syndromes in the past, the recent theory of primary developmental defect during blastogenesis holds good in this case.
De novo interstitial deletion of 9q32-34.1 with mental retardation, developmental delay, epilepsy, and cortical dysplasia

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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...
Oculodentodigital dysplasia

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Dharmil C Doshi

2016-01-01

Full Text Available Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo, teeth (dento, and fingers and/or toes (digital. The common clinical features include facial dysmorphism with thin nose, microphthalmia, syndactyly, tooth anomalies such as enamel hypoplasia, anodontia, microdontia, early tooth loss and conductive deafness. Other less common features are abnormalities of the skin and its appendages, such as brittle nails, sparse hair, and neurological abnormalities. To prevent this syndrome from being overlooked, awareness of possible symptoms is necessary. Early recognition can prevent blindness, dental problems and learning disabilities. Described here is the case of a 21-year-old male who presented to the ophthalmology outpatient department with a complaint of bilateral progressive loss of vision since childhood.
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.

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de Bruin, Christiaan; Finlayson, Courtney; Funari, Mariana F A; Vasques, Gabriela A; Lucheze Freire, Bruna; Lerario, Antonio M; Andrew, Melissa; Hwa, Vivian; Dauber, Andrew; Jorge, Alexander A L

2016-01-01

Acromicric dysplasia (AD) and geleophysic dysplasia 2 (GD2) belong to the category of acromelic dysplasia syndromes, consisting of severe short stature, short hands and feet and skin thickening. Both can result from missense mutations in the transforming growth factor beta 5 domain of the fibrillin-1 gene (FBN1). Two patients (P1 age 10, and P2 age 7) from unrelated families presented to their endocrinologist with severe short stature (approx. -4 SDS). They were otherwise asymptomatic and only had mild facial dysmorphisms. Extensive endocrine work-up did not reveal an underlying etiology. Exome sequencing was performed in each family. Exome sequencing identified the presence of the same heterozygous missense variant c.C5183T (p.Ala1728Val) in the FBN1 gene in both P1 and P2. This variant was previously reported in a patient with GD2 and associated cardiac valvulopathy and hepatomegaly. Detailed clinical re-examination, cardiac and skeletal imaging did not reveal any abnormalities in P1 or P2 other than mild hip dysplasia. This report broadens the phenotypic spectrum of growth disorders associated with FBN1 mutations. Identical mutations give rise to a wide phenotypic spectrum, ranging from isolated short stature to a more classic picture of GD2 with cardiac involvement, distinct facial dysmorphisms and various skeletal anomalies. © 2016 S. Karger AG, Basel.
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
Patterns of Dysmorphic Features in Schizophrenia

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

2011-01-01

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

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Ma Mingping; Fan Jianzhong; Jiang Zirong; Bao Qiang; Du Ruibin; Ritter, J.L.

2009-01-01

Objective: To characterize neuroimaging features of focal cortical dysplasia (FCD) retrospectively and correlate those with pathological findings, which may improve our understanding of neuroimaging characteristics of FCD. Methods: Clinical information and neuroimaging findings of 28 cases with FCD proved by pathology were retrospectively reviewed, and neuroimaging features of FCD were correlated with the pathological changes. Results: MRI revealed abnormal changes in 24 of 28 patients (85.7%) and no abnormalities were observed in 4 cases. Focal cortical thickening and blurring of the gray- white matter junction were the major features of FCD on MRI. Accompanied abnormal MR signals can also be observed in cortical or subcortical white matter in FCD. The radial band of hyperintensity in subcortical white matter tapering to the ventricle is one of the characteristic features of FCD on MRI. On FDG-PET examination, focal hypometabolism were revealed in 9 of 14 cases (64.3%). Histologically, cortical dyslamination was accompanied by various degrees of dysmorphic neurons and balloon cells in cortical and subcortical areas. Subcortical white matter dysmyelination and spongiotic necrotic changes were found in some cases with FCD. Conclusion: High resolution MRI can reveal most of the lesions in FCD, including abnormal changes of cortical and subcortical white matter, which makes MRI the best pre-operation examination for FCD. (authors)
Case report: prenatal diagnosis of diastrophic dysplasia by ultrasound at 21 weeks of gestation in a mother with massive obesity.

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Jung, C; Sohn, C; Sergi, C

1998-04-01

Routine prenatal ultrasound of a massively obese mother at 21 weeks of gestation revealed short-limb dwarfism in the fetus. The proportionate shortening of tubular bones of about 50 per cent of the normal length, the absence of thoracic dysplasia, and a normal head circumference narrowed the diagnosis down to a severe but non-lethal skeletal dysplasia. Ulnar deviation of the hands and talipes made diastrophic dysplasia the most likely differential diagnosis. At post-mortem clinical examination, the diagnosis of diastrophic dysplasia was clearly apparent due to highly specific 'hitch-hiker thumbs', similarly luxated big toes, facial dysmorphism, and a cleft palate. Retrospective re-evaluation of the prenatal ultrasound videos revealed the misplaced thumbs, which together with the ulnar deviation of the wrist and suspected talipes, led to the conclusion that the definitive diagnosis can be established prenatally, even in a mother with massive obesity.
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

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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.

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

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

2017-01-01

Dysmorphic concern (DC) refers to excessive preoccupation with a slight or imagined defect in physical appearance with social avoidance and behavior directed at controlling the defect in appearance. This study attempted to adapt the factor structure of two instruments that cover the DC construct, the Dysmorphic Concern Questionnaire (DCQ) and the Body Dysmorphic Disorder Examination Self-Report (BDDE-SR), to Spanish and establish their psychometric properties. A total of 920 subjects (62.7% women, M age = 32.44 years) participated. Exploratory and Confirmatory Factor Analysis of both scales found adequate goodness of fit indices. A one-dimensional structure was found for the DCQ and two first-order factors (dissatisfaction/preoccupation with body image (BI) and BI avoidance behavior) were identified for the BDDE-SR. The psychometric test-retest reliability and validity properties (content, convergent, and discriminant) were satisfactory. It is suggested that the DC construct includes both cognitive and behavioral aspects and may represent a continuum of severity with Body Dysmorphic Disorder at the end.
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.
A Newborn with Icthyosis, Corpus Callosum Hypoplasia, Microcephaly, Atrichia and Intra Uterine Growth Retardation (IUGR: AVariant of Icthyosis Follicularis Atrichia Photophobia (IFAP or Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Deformities, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate, Cryptorchidism (BRESHECK?

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Gurudutt S. Joshi

2017-10-01

Full Text Available A full term newborn small for gestational age Intra Uterine Growth Retardation (IUGR admitted with congenital dysmorphic features with icthyosis, atrichia, microcephaly and eye abnormalities, when explored further for other congenital malformations, revealed Corpus callosum hypoplasia and closely related features with two rare syndromes Icthyosis Follicularis Atrichia Photophobia (IFAP or Brain Anomalies Retardation, Ectodermal Dysplasia, Skeletal Deformities, Hirschsprung Disease, Hemivertebrae, Ear/Eye Anomalies, and Kidney Dysplasia (BRESHECK.
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.
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.
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.
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.
Body Dysmorphic Disorder in Patients Presenting for Cosmetic Treatment

Directory of Open Access Journals (Sweden)

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

Energy Technology Data Exchange (ETDEWEB)

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.
Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia

International Nuclear Information System (INIS)

Agarwal, Prachi Pragya; Srinivasan, Ashok; Sharma, Raju; Gupta, Arun Kumar; Kabra, Madhulika

2003-01-01

A rare case of spondylo-megaepiphyseal-metaphyseal dysplasia is reported in a 10-year-old boy. The features were metaphyseal dysplasia, markedly defective ossification of vertebral body centres and enlarged epiphyses. Although it shares some features with spondylo-metaphyseal dysplasia, oto-spondylo-megaepiphyseal dysplasia and cleidocranial dysplasia, the presence of several unusual radiological findings sets it apart. (orig.)
Body dysmorphic disorder: history and curiosities.

Science.gov (United States)

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.
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...
Ectodermal dysplasias

Science.gov (United States)

Anhidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndrome; Anondontia; Incontinentia pigmenti ... These resources can provide more information on ectodermal dysplasias: Ectodermal Dysplasia Society -- www.ectodermaldysplasia.org National Foundation for ...
Personality traits as vulnerability factors in body dysmorphic disorder.

Science.gov (United States)

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.
Oculoauriculovertebral spectrum with radial anomaly in child.

Science.gov (United States)

Taksande, Amar; Vilhekar, Krishna

2013-01-01

Oculoauriculovertebral spectrum (OAVS) or Goldenhar syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. It is characterized by a wide spectrum of symptoms and physical features. These abnormalities mainly involve the cheekbones, jaws, mouth, ears, eyes, or vertebrae. Other conditions with ear and/or radial involvement, such as, the Nager syndrome, Holt-Oram syndrome, Radial-renal syndrome, facioauriculoradial dysplasia, Fanconi anemia, and Vertebral, Anal atresia, Cardiac, Trachea, Esophageal, Renal, and Limb (VACTERL) association should be considered for differential diagnosis. Here we report a child who had facial asymmetry, microsomia, microtia, congenital facial nerve palsy, conductive hearing loss, skin tags, iris coloboma, and preaxial polydactyly.
Oculoauriculovertebral spectrum with radial anomaly in child

Directory of Open Access Journals (Sweden)

Amar Taksande

2013-01-01

Full Text Available Oculoauriculovertebral spectrum (OAVS or Goldenhar syndrome is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. It is characterized by a wide spectrum of symptoms and physical features. These abnormalities mainly involve the cheekbones, jaws, mouth, ears, eyes, or vertebrae. Other conditions with ear and/or radial involvement, such as, the Nager syndrome, Holt-Oram syndrome, Radial-renal syndrome, facioauriculoradial dysplasia, Fanconi anemia, and Vertebral, Anal atresia, Cardiac, Trachea, Esophageal, Renal, and Limb (VACTERL association should be considered for differential diagnosis. Here we report a child who had facial asymmetry, microsomia, microtia, congenital facial nerve palsy, conductive hearing loss, skin tags, iris coloboma, and preaxial polydactyly.
Body Dysmorphic Symptoms Scale for patients seeking esthetic surgery: cross-cultural validation study.

Science.gov (United States)

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.
Cortical dysplasia and autistic trait severity in children with Tuberous Sclerosis Complex : A clinical epidemiological study

NARCIS (Netherlands)

S.E. Mous (Sabine); I.E. Overwater (Iris); R. Vidal Gato (Rita); J. Duvekot (Jorieke); L.W. ten Hoopen (Leontine); M. Leguin (Maarten); M.C.Y. de Wit (Marie Claire); G.C. Dieleman (Gwen)

2017-01-01

textabstractTuberous Sclerosis Complex (TSC) is characterized by a high prevalence of autism spectrum disorders (ASD). Little is known about the relation between cortical dysplasia and ASD severity in TSC. We assessed ASD severity (using the Autism Diagnostic Observation Scale), tuber and radial
Dysmorphic features and developmental outcome of 2-year-old children.

Science.gov (United States)

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.

Directory of Open Access Journals (Sweden)

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.
Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis

International Nuclear Information System (INIS)

Pazzaglia, Ugo E.; Donzelli, Carla M.; Izzi, Claudia; Baldi, Maurizia; Di Gaetano, Giuseppe; Bondioni, MariaPia

2014-01-01

Documentation through X-ray morphometry and histology of the steady phenotype expressed by FGFR3 gene mutation and interpolation of mechanical factors on spine and long bones dysmorphism. Long bones and spine of eight thanatophoric dysplasia and three age-matched controls without skeletal dysplasia were studied after pregnancy termination between the 18th and the 22nd week with X-ray morphometry, histology, and molecular analysis. Statistical analysis with comparison between TD cases and controls and intraobserver/interobserver variation were applied to X-ray morphometric data. Generalized shortening of long bones was observed in TD. A variable distribution of axial deformities was correlated with chondrocyte proliferation inhibition, defective seriate cell columns organization, and final formation of the primary metaphyseal trabeculae. The periosteal longitudinal growth was not equally inhibited, so that decoupling with the cartilage growth pattern produced the typical lateral spurs around the metaphyseal growth plates. In spine, platyspondyly was due to a reduced height of the vertebral body anterior ossification center, while its enlargement in the transversal plane was not restricted. The peculiar radiographic and histopathological features of TD bones support the hypothesis of interpolation of mechanical factors with FGFR3 gene mutations. The correlated observations of X-ray morphometry, histopathology, and gene analysis prompted the following diagnostic workup for TD: (1) prenatal sonography suspicion of skeletal dysplasia; (2) post-mortem X-ray morphometry for provisional diagnosis; (3) confirmation by genetic tests (hot-spot exons 7, 10, 15, and 19 analysis with 80-90 % sensibility); (4) in negative cases if histopathology confirms TD diagnosis, research of rare mutations through sequential analysis of FGFR3 gene. (orig.)
Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis

Energy Technology Data Exchange (ETDEWEB)

Pazzaglia, Ugo E. [University of Brescia, Orthopaedic Clinic, Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, Brescia (Italy); Donzelli, Carla M. [Spedali Civili di Brescia, Morbid Anatomy Department, Brescia (Italy); Izzi, Claudia [University of Brescia, Prenatal Diagnosis Unit, Department of Obstetrics and Gynaecology, Brescia (Italy); Baldi, Maurizia [Hospital Galliera, Human Genetic Laboratory, Genova (Italy); Di Gaetano, Giuseppe; Bondioni, MariaPia [University of Brescia, Paediatric Radiology, Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, Brescia (Italy)

2014-09-15

Documentation through X-ray morphometry and histology of the steady phenotype expressed by FGFR3 gene mutation and interpolation of mechanical factors on spine and long bones dysmorphism. Long bones and spine of eight thanatophoric dysplasia and three age-matched controls without skeletal dysplasia were studied after pregnancy termination between the 18th and the 22nd week with X-ray morphometry, histology, and molecular analysis. Statistical analysis with comparison between TD cases and controls and intraobserver/interobserver variation were applied to X-ray morphometric data. Generalized shortening of long bones was observed in TD. A variable distribution of axial deformities was correlated with chondrocyte proliferation inhibition, defective seriate cell columns organization, and final formation of the primary metaphyseal trabeculae. The periosteal longitudinal growth was not equally inhibited, so that decoupling with the cartilage growth pattern produced the typical lateral spurs around the metaphyseal growth plates. In spine, platyspondyly was due to a reduced height of the vertebral body anterior ossification center, while its enlargement in the transversal plane was not restricted. The peculiar radiographic and histopathological features of TD bones support the hypothesis of interpolation of mechanical factors with FGFR3 gene mutations. The correlated observations of X-ray morphometry, histopathology, and gene analysis prompted the following diagnostic workup for TD: (1) prenatal sonography suspicion of skeletal dysplasia; (2) post-mortem X-ray morphometry for provisional diagnosis; (3) confirmation by genetic tests (hot-spot exons 7, 10, 15, and 19 analysis with 80-90 % sensibility); (4) in negative cases if histopathology confirms TD diagnosis, research of rare mutations through sequential analysis of FGFR3 gene. (orig.)
Bone dysplasia with optic atrophy, vascular malformation and seizures in a 14-year-old girl - a case report

International Nuclear Information System (INIS)

Kuleta-Bosak, E.; Kluczewska, E.; Gibinska, E.; Jamroz, E.; Augustyn, D.; Gluszkiewicz, E.

2007-01-01

The heritable skeletal dysplasias or osteochondrodysplasias are a large heterogeneous group of disorders associated with abnormal shape, growth, or integrity of bones. Osteopetrosis is a collective term for a range of sclerosing bone diseases with various degree of defective remodeling. Increased bone density is the predominant radiologic feature. The skull is often involved with basal sclerosis and the sinuses are obliterated. The most serious consequences of the osteopetroses are seen in the nervous system. Because of perturbed remodeling of the skull bones, many aspects of the brain and cranial nerve function are endangered. Cranial nerves, blood vessels and the spinal cord may be compressed by progressive occlusion of cranial foramina. Carious, misplaced teeth, dysplastic fingernails, tendency to pathologic fractures are the other clinical manifestations. The authors present a 14-year-old girl with dysmorphic features, optic atrophy, CNS vessel malformation, pathologic fractures and seizures. The girl had a wide range of clinical and radiographic symptoms of bone dysplasias together with a giant left internal carotid artery aneurysm and epilepsy. On the basis of clinical and radiological features, a disease belonging to the group of skeletal dysplasias was recognized in our patient. The configuration of the presented symptoms does not allow at the moment strict classification to hitherto determined forms of dysplasia. This leads to the necessity of extending diagnostics, especially by molecular tests, and further long-lasting observations, which perhaps would allow classification of the presented syndrome to one of the known groups, or determination of a new clinical entity. (author)
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).

NARCIS (Netherlands)

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

2008-01-01

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

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Miller, S.F. [Dept. of Radiology, Children' s Hospital of the King' s Daughters, Norfolk (United States); Proud, V.K. [Dept. of Genetics, Children' s Hospital of the King' s Daughters, Norfolk (United States); Werner, A.L. [Dept. of Pathology, Children' s Hospital of the King' s Daughters, Norfolk (United States); Field, F.M.; Wilcox, W.F.; Lachman, R.S.; Rimoin, D.L. [International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center, Los Angeles (United States)

2003-04-01

Background: Punctate or stippled cartilaginous calcifications are associated with many conditions, including chromosomal, infectious, endocrine, and teratogenic etiologies. Some of these conditions are clinically mild, while others are lethal. Accurate diagnosis can prove instrumental in clinical management and in genetic counseling. Objective: To describe the diagnostic radiographic features seen in Pacman dysplasia, a distinct autosomal recessive, lethal skeletal dysplasia. Materials and methods: We present the fourth reported case of Pacman dysplasia and compare the findings seen in our patient with the three previously described patients. Results: Invariable and variable radiographic findings were seen in all four cases of histologically proven Pacman dysplasia. Conclusion: Pacman dysplasia presents both constant and variable diagnostic radiographic features. (orig.)
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.
Bilateral multicystic renal dysplasia with potter sequence: A case with penile agenesis

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Dursun, Ahmet; Ermis, Bahri; Bahadir, Burak; Seckiner, Ilker

2006-01-01

Hereditary renal adysplasia (HRA) is rare autosomal dominant condition. Patients have several other anomalies including Potter facies, thoracic, cardiac, and extremity deformities. The case present dysmorphic facial features such as hypertelorism, prominent epicanthic folds, a flat and broad nose, choanal stenosis, low set ears and a receding chin. He had femoral bowing, hypoplastic right tibia and agenesis of the right foot. He had rich and thin skin. He had also a dysplastic empty scrotum, penile agenesis, and anal atresia. The autopsy revealed pulmonary hypoplasia, ventricular septal defect, bilateral multicystic renal dysplasia, agenesis of ureter and bladder, intraabdominal testicles, and a single umbilical artery. The penile agenesis was first reported, and including the consanguinity in the parents might further delineate the bilateral multicystic HRA. Vater/caudal regression anomalies, Mullerian duct/aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies association and Coloboma, heart anomaly, choanal atresia, retardation, retardation, genital and ear anomalies syndrome has been considered in differential diagnosis. (author)
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.
Asphyxiating thoracic dysplasia

International Nuclear Information System (INIS)

Franzcr, J.; Kozlowski, K.

2008-01-01

Asphyxiating Thoracic Dysplasia is the most frequent form of Small Thorax - Short Rib Syndromes. Asphyxiating Thoracic Dysplasia in two patients with different clinical course is reported. Radiographic examination is the only method to diagnose Asphyxiating Thoracic Dysplasia with certainty. The correct diagnosis is important for prognostication and genetic counseling. It also excludes the necessity of further, often expensive investigations. (author)
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.

Science.gov (United States)

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.
Epilepsy with dual pathology: surgical treatment of cortical dysplasia accompanied by hippocampal sclerosis.

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Kim, Dong W; Lee, Sang K; Nam, Hyunwoo; Chu, Kon; Chung, Chun K; Lee, Seo-Young; Choe, Geeyoung; Kim, Hyun K

2010-08-01

The presence of two or more epileptogenic pathologies in patients with epilepsy is often observed, and the coexistence of focal cortical dysplasia (FCD) with hippocampal sclerosis (HS) is one of the most frequent clinical presentations. Although surgical resection has been an important treatment for patients with refractory epilepsy associated with FCD, there are few studies on the surgical treatment of FCD accompanied by HS, and treatment by resection of both neocortical dysplastic tissue and hippocampus is still controversial. We retrospectively recruited epilepsy patients who had undergone surgical treatment for refractory epilepsy with the pathologic diagnosis of FCD and the radiologic evidence of HS. We evaluated the prognostic roles of clinical factors, various diagnostic modalities, surgical procedures, and the severity of pathology. A total of 40 patients were included, and only 35.0% of patients became seizure free. Complete resection of the epileptogenic area (p = 0.02), and the presence of dysmorphic neurons or balloon cells on histopathology (p = 0.01) were associated with favorable surgical outcomes. Patients who underwent hippocampal resection were more likely to have a favorable surgical outcome (p = 0.02). We show that patients with complete resection of epileptogenic area, the presence of dysmorphic neurons or balloon cells on histopathology, or resection of hippocampus have a higher chance of a favorable surgical outcome. We believe that this observation is useful in planning of surgical procedures and predicting the prognoses of individual patients with FCD patients accompanied by HS. Wiley Periodicals, Inc. © 2009 International League Against Epilepsy.
X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation.

Science.gov (United States)

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

2017-01-01

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

International Nuclear Information System (INIS)

Kozlowski, K.; Warren, P.S.; Fisher, C.C.; Royal Hospital for Women, Camperdown

1985-01-01

A case of cloverleaf skull with generalised bone dysplasia is reported. The authors believe that bone dysplasia associated with cloverleaf is neither identical with thanatophoric dysplasia nor achondroplasia. Until identity of thanatophoric dysplasia and cloverleaf skull with generalised bone dysplasia is proved the diseases should be looked upon as separate entities and the wording ''thanatophoric dysplasia with cloverleaf skull'' should be abolished. (orig.)
['Barbie Doll Syndrome'. A case report of body dysmorphic disorder].

Science.gov (United States)

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.

Cloverleaf skull with generalised bone dysplasia

Energy Technology Data Exchange (ETDEWEB)

Kozlowski, K.; Warren, P.S.; Fisher, C.C.

1985-09-01

A case of cloverleaf skull with generalised bone dysplasia is reported. The authors believe that bone dysplasia associated with cloverleaf is neither identical with thanatophoric dysplasia nor achondroplasia. Until identity of thanatophoric dysplasia and cloverleaf skull with generalised bone dysplasia is proved the diseases should be looked upon as separate entities and the wording ''thanatophoric dysplasia with cloverleaf skull'' should be abolished.
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...
Correlation of radiographic, necropsy and histologic findings in 8 dogs with elbow dysplasia

International Nuclear Information System (INIS)

Keller, G.G.; Kreeger, J.M.; Mann, F.A.; Lattimer, J.C.

1997-01-01

Elbow dysplasia is osteoarthrosis/degenerative joint disease due to abnormal development of the elbow joint. The abnormal development is the result of specific inherited etiologies alone or in combination. This paper attempts to clarify the diagnosis of elbow dysplasia based on the presence of degenerative joint disease by correlating radiographic, necropsy, and histopathologic results using elbows from 8 German Shepherd dogs. All elbows had radiographic changes consistent with osteoarthrosis/degenerative joint disease which were identified best on the flexed medial-lateral projection. Radiographically, a specific diagnosis was made in seven elbows; ununited anconeal process (6) and osteochondrosis (1). At necropsy these lesions were confirmed plus 14 elbows were identified that had fragmented medial coronoid process (6), abnormally shaped medial coronoid processes or fissures in the articular cartilage of the medial coronoid process (8). Additionally, histopathologically there was proliferative synovitis at the radial notch of the ulna and degenerative changes on the proximal, nonarticular surface of the anconeal process at the site of insertion of the olecranon ligament and joint capsule. Therefore, for screening the elbow joint to identify elbow dysplasia, the recognition of osteoarthrosis/degenerative joint disease on an extreme flexed mediolateral radiograph appears to be sufficient
Spondyloepiphyseal dysplasia congenita

International Nuclear Information System (INIS)

Macpherson, R.I.; Wood, B.P.

1980-01-01

Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed. (orig.) [de
Body dysmorphic disorder in the dermatology patient.

Science.gov (United States)

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.
Familial ectodermal dysplasia: a peers' agony.

Science.gov (United States)

Hegde, Karthik; Kashyap, Roopashri Rajesh; Nair, Gopakumar; Nair, Preeti P

2013-07-23

Ectodermal dysplasias include a various group of inherited disorders which share primary defect in the development of two or more tissues of embryonic ectodermal origin. Though there are many subtypes, ectodermal dysplasias are mainly hidrotic ectodermal dysplasia and hypohidrotic ectodermal dysplasia, among which the most common variety is X linked hypohidrotic ectodermal dysplasia. We report a rare case of X linked hypohidrotic ectodermal dysplasia occurring in a family with various skin, hair and oral abnormalities.
Genetics Home Reference: boomerang dysplasia

Science.gov (United States)

... Email Facebook Twitter Home Health Conditions Boomerang dysplasia Boomerang dysplasia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Boomerang dysplasia is a disorder that affects the development ...
Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature.

Science.gov (United States)

Tender, Jennifer A F; Ferreira, Carlos R

2018-04-13

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

African Journals Online (AJOL)

Progressive pseudorheumatoid dysplasia misdiagnosed as seronegative juvenile idiopathic arthritis. Ozgur Taspinar, Fatih Kelesoglu, Yasar Keskin, Murat Uludag. Abstract. Background: Progressive pseudorheumatoid dysplasia (PPD) is a rare spondylo- epi-metaphyseal dysplasia (SEMD). It can be confused with juvenile ...
Hysteroscopic outpatient metroplasty to expand dysmorphic uteri (HOME-DU technique): a pilot study.

Science.gov (United States)

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.
Prenatal diagnosis of boomerang dysplasia.

Science.gov (United States)

Wessels, Marja W; Den Hollander, Nicolette S; De Krijger, Ronald R; Bonifé, Luisa; Superti-Furga, Andrea; Nikkels, Peter G; Willems, Patrick J

2003-10-01

Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang-like aspect of the long tubular bones. We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound. Copyright 2003 Wiley-Liss, Inc.
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.

Science.gov (United States)

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.

Science.gov (United States)

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.
Complex orthopaedic management of patients with skeletal dysplasias

Directory of Open Access Journals (Sweden)

A. G. Baindurashvili

2014-01-01

Full Text Available Skeletal dysplasias are challenging for diagnostics and treatment. We present a series of fifteen patients with different forms of skeletal dysplasias with age ranged from 6 to 17 years with variable clinical presentations managed as a part of the project of scientific cooperation between Turner Paediatric Orthopaedic Institute and Orthopaedic Hospital Vienna-Speising. The spectrum of diagnoses included multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia congenita, diastrophic dysplasia, metaphyseal dysplasia, spondylometaphyseal dysplasia, Stickler syndrome, Kniest dysplasia, and anauxetic dysplasia. Complex treatment, which included axial correction and juxta-articular realignment, was performed as a single-stage, or consecutive surgery. Surgical techniques included corrective osteotomies with internal fixation, guided growth technique and external fixation devices. Best results (full axial correction, normal alignment of the joint were achieved in 8 patients, including 2 patients with metaphyseal dysplasia, 2 patients with multiple epyphyseal dysplasia, 2 patients with spondyloepyphyseal dysplasia, patient with Stickler syndrome and patient with spondylometaphyseal dysplasia. Good results (partial correction at the present time were seen in 4 patients (2 patients with Kniest dysplasia, 1 - with multiple epyphyseal dysplasia and 1 - with anauxetic dysplasia. Satisfactory results (non-progressive condition in previous progression were obtained in 2 patients with diastrophic dysplasia, and poor results (progression of the deformity - in 1 patient with diastrophic dysplasia. Positive results in most of the cases of our series make promising future for usage of complex approach for orthopedic management of children with skeletal dysplasias; advanced international cooperation is productive and helpful for diagnostics and management of rare diseases.
The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain

Directory of Open Access Journals (Sweden)

Groza Tudor

2012-03-01

Full Text Available Abstract Background Skeletal dysplasias are a rare and heterogeneous group of genetic disorders affecting skeletal development. Patients with skeletal dysplasias suffer from many complex medical issues including degenerative joint disease and neurological complications. Because the data and expertise associated with this field is both sparse and disparate, significant benefits will potentially accrue from the availability of an ontology that provides a shared conceptualisation of the domain knowledge and enables data integration, cross-referencing and advanced reasoning across the relevant but distributed data sources. Results We introduce the design considerations and implementation details of the Bone Dysplasia Ontology. We also describe the different components of the ontology, including a comprehensive and formal representation of the skeletal dysplasia domain as well as the related genotypes and phenotypes. We then briefly describe SKELETOME, a community-driven knowledge curation platform that is underpinned by the Bone Dysplasia Ontology. SKELETOME enables domain experts to use, refine and extend and apply the ontology without any prior ontology engineering experience--to advance the body of knowledge in the skeletal dysplasia field. Conclusions The Bone Dysplasia Ontology represents the most comprehensive structured knowledge source for the skeletal dysplasias domain. It provides the means for integrating and annotating clinical and research data, not only at the generic domain knowledge level, but also at the level of individual patient case studies. It enables links between individual cases and publicly available genotype and phenotype resources based on a community-driven curation process that ensures a shared conceptualisation of the domain knowledge and its continuous incremental evolution.
Osseous dysplasia (cemento-osseous dysplasia) of the jaw bones in western Pennsylvania patients: analysis of 35 cases.

Science.gov (United States)

Owosho, Adepitan A; Potluri, Anitha; Bilodeau, Elizabeth A

2013-01-01

The purpose of this study is to analyze the demographic, clinical, and radiographic presentations of osseous dysplasia of the jaws in western Pennsylvania patients and its associated complications. The clinical records and radiographs of patients diagnosed with osseous (cement-osseous) dysplasia were retrieved from the electronic health record of the University of Pittsburgh, School of Dental Medicine from 2007 to 2012. All cases were reviewed; the WHO criteria and classification for osseous dysplasia was used. Clinical and demographic data, radiographic findings, and final diagnoses were collected and analyzed. 35 cases of osseous dysplasia were retrieved over the six-year period.The majority (33) were females [94.3%], with ages ranging from 26 to 89 years, with a mean age of 53.9 years +/- standard deviation of 15.6 years, 32 [91.4%] were African Americans and 3 [8.6%] were Caucasians. 17 [48.6%] were florid osseous dysplasia, 13 [37.1%] periapical osseous dysplasia and 5 [14.3%] focal osseous dysplasia. Of the 35 patients only 8 [22.9%] patients were symptomatic. All florid osseous dysplasia patients were African American females, with 7 of the patients being symptomatic and the commonest symptom being pain. Also, all periapical osseous dysplasia patients were African Americans (12 females and 1 male), with 1 of the patients presenting with widening of the diastema. Of the focal osseous dysplasia patients, 3 were Caucasians and 2 African American (4 females and 1 male). The cases occurred mostly in African American females with a peak incidence in the fifth and sixth decades of life; most cases occurred in the mandible. The commonest form of osseous dysplasias was the florid osseous dysplasia which is most likely to present with symptoms.
Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

Science.gov (United States)

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

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

OpenAIRE

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

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

OpenAIRE

Iulian ICLEANU; Mariana CORDUN

2015-01-01

In this thesis, our purpose is to show that using physiotherapy on patients with hip dysplasia from the very beginning, in the first months of life, helps treating them faster. Common literature proposes to use physiotherapy on patients with hip dysplasia either after their recovery or in the terminal phase of recovery, claiming that any earlier intervention will prolong the hip recovery. The effects of hip dysplasia reflect over the whole musculoskeletal system, while it hinders the knees (g...

Spondylometaphyseal dysplasia with hypercalcemia

International Nuclear Information System (INIS)

Bagga, A.; Srivastava, R.N.; Gupta, S.; Gupta, A.

1989-01-01

Kozlowski's spondylometaphyseal dysplasia is characterised by short-trunk dwarfism, platyspondyly, metaphyseal dysplasia and retarded bone age. We report an association of this syndrome with asymptomatic, hypocalciuric hypercalcemia, a previously undocumented finding. (orig.)
[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.
Dental abnormalities and preventive oral care in Schimke immuno-osseous dysplasia.

Science.gov (United States)

Gendronneau, M; Kérourédan, O; Taque, S; Sixou, J L; Bonnaure-Mallet, M

2014-06-01

Schimke immuno-osseous dysplasia (SIOD) is a rare, severe, autosomal recessive disorder that results in spondyloepiphyseal dysplasia, renal dysfunction, immunodeficiency, facial dysmorphism and growth failure. Little is known about oral features associated with SIOD. Some of the dental anomalies encountered are specific to SIOD and have only been reported in individuals with SIOD. This paper describes the clinical and radiographic dental manifestations of SIOD in two Caucasian brothers. Both lived to be about 10 years old. After a variety of symptoms were reported, a diagnosis of SIOD was finally made when the brothers were, respectively, 5 and 8 years old. At that time, dental anomalies, such as dyschromia, bulbous crowns, short and thin roots, had not been taken into account to establish the diagnosis. However, knowledge of the dental features characteristic of this disease could have helped make the diagnosis. Although both were caries- and periodontal disease-free, special attention was focused on prevention, including dietary counselling, plaque control, oral hygiene instructions and the use of fluoridated toothpaste. The two patients were followed every 6 months, for over 2 years (until their death), by both a private dentist and a university hospital dentist, which helped them maintain good oral health. Oral hygiene was assessed at each appointment and fissure sealants were placed by the private practitioner on their first permanent molars. This report describes dental anomalies specific to SIOD that could facilitate diagnosis. Clinicians and dentists should work in collaboration to diagnose and treat children with SIOD. These patients require regular and specific dental management because of their fragile health and their characteristic dental anomalies. Ideally, preventive visits should be scheduled every 6 months in addition to curative visits as needed.
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.
Sponastrime dysplasia

International Nuclear Information System (INIS)

Lachman, R.S.; California Univ., Los Angeles, Torrance, CA; Stoss, H.; Spranger, J.

1989-01-01

The 2nd family with Sponastrime Dysplasia is described. The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an 'oriental look' with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). The morphological findings suggest a disturbance in the formation of cartilage, with a defect in collagen and proteoglycans synthesis in this rare autosomal recessive skeletal dysplasia. (orig.)
Mandibulo-acral dysplasia

Energy Technology Data Exchange (ETDEWEB)

Hoeffel, J.C.; Mainard, L. [Dept. of Radiology, Children' s Hospital, Vandoeuvre (France); Chastagner, P. [Dept. of Medicine, Children' s Hospital, Vandoeuvre (France); Hoeffel, C.C. [UFR Faculte de Medecine Cochin, Paris (France)

2000-11-01

We report on a 7 year-old-girl with mandibulo-acral dysplasia. When she was 3 years of age it mimicked scleroderma because of skin atrophy and later on a Hutchinson-Gilford progeria syndrome (HGP). Acro-mandibular dysplasia was diagnosed because of facial hypoplasia and mandibular hypoplasia. The bilateral proximal mid-humeral notch seen in this case is unusual. (orig.)
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…
Ectodermal Dysplasia: A Case Report

Science.gov (United States)

2011-01-01

Ectodermal dysplasia is a hereditary disease characterized by dysplasia of tissues of ectodermal origin. The incidence of ectodermal dysplasia is rare (1 in 100,000 birth). This case report discusses the features, classification and prosthetic treatment plan (upper partial denture and lower complete denture for upper partial and lower complete edentulous arches respectively). This treatment plan would be able to provide psychological and functional boost to the sufferer. PMID:27678241
Focal cortical dysplasia – review

International Nuclear Information System (INIS)

Kabat, Joanna; Król, Przemysław

2012-01-01

Focal cortical dysplasia is a malformation of cortical development, which is the most common cause of medically refractory epilepsy in the pediatric population and the second/third most common etiology of medically intractable seizures in adults. Both genetic and acquired factors are involved in the pathogenesis of cortical dysplasia. Numerous classifications of the complex structural abnormalities of focal cortical dysplasia have been proposed – from Taylor et al. in 1971 to the last modification of Palmini classification made by Blumcke in 2011. In general, three types of cortical dysplasia are recognized. Type I focal cortical dysplasia with mild symptomatic expression and late onset, is more often seen in adults, with changes present in the temporal lobe. Clinical symptoms are more severe in type II of cortical dysplasia usually seen in children. In this type, more extensive changes occur outside the temporal lobe with predilection for the frontal lobes. New type III is one of the above dysplasias with associated another principal lesion as hippocampal sclerosis, tumor, vascular malformation or acquired pathology during early life. Brain MRI imaging shows abnormalities in the majority of type II dysplasias and in only some of type I cortical dysplasias. The most common findings on MRI imaging include: focal cortical thickening or thinning, areas of focal brain atrophy, blurring of the gray-white junction, increased signal on T2- and FLAIR-weighted images in the gray and subcortical white matter often tapering toward the ventricle. On the basis of the MRI findings, it is possible to differentiate between type I and type II cortical dysplasia. A complete resection of the epileptogenic zone is required for seizure-free life. MRI imaging is very helpful to identify those patients who are likely to benefit from surgical treatment in a group of patients with drug-resistant epilepsy. However, in type I cortical dysplasia, MR imaging is often normal, and also in both
Genetics Home Reference: osteoglophonic dysplasia

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... 1 link) Genetic Testing Registry: Osteoglophonic dysplasia Other Diagnosis and Management Resources (1 link) Seattle Children's Hospital: Dwarfism and Bone Dysplasias General Information from MedlinePlus (5 ...
Presentation of hypohidrotic ectodermal dysplasia in two siblings

Directory of Open Access Journals (Sweden)

Uday Ginjupally

2015-01-01

Full Text Available Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive disorders and have a full expression in males, whereas females show little to no signs of the disorder. The two most common types of ectodermal dysplasias are hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome and hidrotic ectodermal dysplasia (Clouston syndrome. Hypohidrotic ectodermal dysplasia is characterized by hypodontia, hypotrichosis, and hypohidrosis. Here, we present two female sibling cases of hypohidrotic ectodermal dysplasia.
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

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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…
Oral epithelial dysplasia classification systems

DEFF Research Database (Denmark)

Warnakulasuriya, S; Reibel, J; Bouquot, J

2008-01-01

At a workshop coordinated by the WHO Collaborating Centre for Oral Cancer and Precancer in the United Kingdom issues related to potentially malignant disorders of the oral cavity were discussed by an expert group. The consensus views of the Working Group are presented in a series of papers....... In this report, we review the oral epithelial dysplasia classification systems. The three classification schemes [oral epithelial dysplasia scoring system, squamous intraepithelial neoplasia and Ljubljana classification] were presented and the Working Group recommended epithelial dysplasia grading for routine...... use. Although most oral pathologists possibly recognize and accept the criteria for grading epithelial dysplasia, firstly based on architectural features and then of cytology, there is great variability in their interpretation of the presence, degree and significance of the individual criteria...
[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.
Bone scintigraphy in polyostotic fibrous dysplasia

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Wadhwa, S.S.; Mansberg, R.; Fernandes, V.B. [Illawarra Regional Hospital, Wollongong, NSW, (Australia)

1998-03-01

Fibrous dysplasia is a benign skeletal disorder of unknown aetiology. Fibrous dysplasia characteristically involves the fibrous replacement of portions of the medullary cavities of a single bone (monostotic) or multiple bones (polyostotic). Bones typically involved include the femurs, tibiae, ribs and maxillae. The polyostotic form may be accompanied by skin pigmentation and endocrine abnormalities (McCune Allbright Syndrome). Radiological findings in fibrous dysplasia are variable, ranging from completely radiolucent to radio-opaque lesions, depending on the amount of fibrous or osseous tissue deposited in the medulla. The most common radiographic finding is that of a ground glass-like semi-opaque lesion. Case reports on scintigraphic manifestation of fibrous dysplasia are scanty. We present radiological and scintigraphic findings of polyostotic fibrous dysplasia in a young male. (authors). 3 refs., 1 fig.

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…
Jansen type of spondylometaphyseal dysplasia

International Nuclear Information System (INIS)

Campbell, J.B.; Kozlowski, K.; Lejman, T.; Sulko, J.

2000-01-01

Metaphyseal dysplasia, type Jansen (JMD), is a rare skeletal dysplasia with characteristic radiographic abnormalities. Of the various types of metaphyseal dysplasia, JMD shows the most severe alteration in metaphyseal architecture. All of the long tubular bones, including those of the hands and feet, show metaphyseal irregularity with a fragmented appearance and slight widening. The adjacent physes are abnormally widened, while the epiphyses tend to be slightly enlarged, rounded but otherwise normal. The spine in infancy and childhood usually appears normal. This report describes a young girl with metaphyseal changes typical of JMD except for the hands and feet, which appeared normal. She also showed very unusual abnormalities of the spine. This appears, therefore, to represent a unique osteochondrodysplasia for which we propose the term spondylometaphyseal dysplasia, type Jansen. (orig.)
Genetics Home Reference: thanatophoric dysplasia

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... thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 2010 Jan;152A( ... of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon ...
Gracile bone dysplasias

International Nuclear Information System (INIS)

Kozlowski, Kazimierz; Masel, John; Sillence, David O.; Arbuckle, Susan; Juttnerova, Vera

2002-01-01

Gracile bone dysplasias constitute a group of disorders characterised by extremely slender bones with or without fractures. We report four newborns, two of whom showed multiple fractures. Two babies had osteocraniostenosis and one had features of oligohydramnios sequence. The diagnosis in the fourth newborn, which showed thin long bones and clavicles and extremely thin, poorly ossified ribs, is uncertain. Exact diagnosis of a gracile bone dysplasia is important for genetic counselling and medico-legal reasons. (orig.)
Gracile bone dysplasias

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Kozlowski, Kazimierz [Department of Medical Imaging, The Children' s Hospital at Westmead, Locked Bag 4001, Westmead 2145, NSW (Australia); Masel, John [Department of Radiology, Royal Children' s Hospital, Brisbane (Australia); Sillence, David O. [Department of Paediatrics and Child Health, The University of Sydney (Australia); Arbuckle, Susan [Department of Anatomical Pathology, The Children' s Hospital at Westmead, NSW (Australia); Juttnerova, Vera [Oddeleni Lekarske Genetiky, Hradec Kralove (Czech Republic)

2002-09-01

Gracile bone dysplasias constitute a group of disorders characterised by extremely slender bones with or without fractures. We report four newborns, two of whom showed multiple fractures. Two babies had osteocraniostenosis and one had features of oligohydramnios sequence. The diagnosis in the fourth newborn, which showed thin long bones and clavicles and extremely thin, poorly ossified ribs, is uncertain. Exact diagnosis of a gracile bone dysplasia is important for genetic counselling and medico-legal reasons. (orig.)
Body Dysmorphic Disorder: Easing the Distress of Distortion.

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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…
DNA Fingerprinting Abnormalities Can Distinguish Ulcerative Colitis Patients with Dysplasia and Cancer from Those Who Are Dysplasia/Cancer-Free

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Chen, Ru; Rabinovitch, Peter S.; Crispin, David A.; Emond, Mary J.; Koprowicz, Kent M.; Bronner, Mary P.; Brentnall, Teresa A.

2003-01-01

Patients with extensive ulcerative colitis (UC) of longer than 8 years duration are at high risk for the development of colorectal cancer. The cancers in these patients appear to develop in a stepwise manner with progressive histological changes from negative for dysplasia → indefinite for dysplasia → dysplasia → cancer. The aim of this study was to determine the timing and extent of genomic instability in the progression of UC dysplasia and cancer. Using two polymerase chain reaction (PCR)-based DNA fingerprinting methods, arbitrarily primed PCR and intersimple sequence repeat PCR, we assessed DNA sequence variation in biopsies across the spectrum of cancerous, dysplastic, and nondysplastic mucosa. UC patients with dysplasia/cancer had substantial genomic instability in both their dysplastic and nondysplastic colonic mucosa, whereas instability was not present in the majority of UC patients without dysplasia/cancer. The degree of instability in nondysplastic tissue was similar to that of dysplastic/cancerous mucosa from the same patient, suggesting that this instability was widespread and reached the maximum level early in neoplastic progression. These results suggest that UC patients who develop dysplasia or cancer have an underlying process of genomic instability in their colonic mucosa whereas UC patients who are dysplasia-free do not. PMID:12547724
Expansive focal cemento-osseous dysplasia.

Science.gov (United States)

Bulut, Emel Uzun; Acikgoz, Aydan; Ozan, Bora; Zengin, Ayse Zeynep; Gunhan, Omer

2012-01-01

To present a case of expansive focal cemento-osseous dysplasia and emphasize the importance of differential diagnosis. Cemento-osseous dysplasia is categorized into three subtypes on the basis of the clinical and radiographic features: Periapical, focal and florid. The focal type exhibits a single site of involvement in any tooth-bearing or edentulous area of the jaws. These lesions are usually asymptomatic; therefore, they are frequently diagnosed incidentally during routine radiographic examinations. Lesions are usually benign, show limited growth, and do not require further surgical intervention, but periodic follow-up is recommended because occasionally, this type of dysplasia progresses into florid osseous dysplasia and simple bone cysts are formed. A 24-year-old female patient was referred to our clinic for swelling in the left edentulous mandibular premolarmolar region and felt discomfort when she wore her prosthetics. She had no pain, tenderness or paresthesia. Clinical examination showed that the swelling in the posterior mandible that was firm, nonfluctuant and covered by normal mucosa. On panoramic radiography and computed tomography, a well defined lesion of approximately 1.5 cm in diameter of mixed density was observed. The swelling increased slightly in size over 2 years making it difficult to use prosthetics and, therefore, the lesion was totally excised under local anesthesia, and surgical specimens were submitted for histopathological examination. The histopathological diagnosis was focal cemento-osseous dysplasia. In the present case, because of the increasing size of the swelling making it difficult to use prosthetics, young age of the patient and localization of the lesion, in the initial examination, cemento-ossifying fibroma was suspected, and the lesion was excised surgically; the histopathological diagnosis confirmed it as focal cemento-osseous dysplasia. We present a case of expansive focal cemento-osseous dysplasia. Differential diagnosis
Ectodermal dysplasia

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Sonia Saggoo

2009-01-01

Full Text Available Hereditary hypohidrotic ectodermal dysplasia, also called the Christ-Siemens-Touraine Syndrome is characterized by congenital dysplasia of one or more ectodermal structures and is manifested by hypohidrosis, hypotrichosis and hypodontia. It is usually an X-linked recessive mendelian character which is rarely seen in males. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Patients with this disorder exhibit smooth , thin and dry skin, fine and blond scanty hair. Intra-orally anodontia or hypodontia, with impaired development of alveolar process is seen. A case report of a rare case of this disorder in a female patient aged 18 years is hereby presented.
TREATMENT OF HIP DYSPLASIA

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Iulian ICLEANU

2015-11-01

Full Text Available In this thesis, our purpose is to show that using physiotherapy on patients with hip dysplasia from the very beginning, in the first months of life, helps treating them faster. Common literature proposes to use physiotherapy on patients with hip dysplasia either after their recovery or in the terminal phase of recovery, claiming that any earlier intervention will prolong the hip recovery. The effects of hip dysplasia reflect over the whole musculoskeletal system, while it hinders the knees (genu valgum, the ankles (ankle valgus, calcaneal valgus and the spine (scoliosis especially at the lumbar level. The most spectacular are at the hip level, that is why we made an analytical evaluation only for this joint. To show the importance of physiotherapy for children with hip dysplasia we started from the hypothesis: untimely treatment for children with hip dysplasia has improved results in functional recovery and in obtaining a better stability, without the necessity of orthopedics or surgical interventions. The research methods used in this study are: the observation method, the bibliographic study method, the experimental method, the graphics method and the statistical mathematical method to process the data and to represent the results graphically. In the end, the results obtained are significantly different from the initial evaluations and we came to the conclusion that starting an untimely analytical kinetic treatment and globally personalizing it to every patient improves stability and biomechanical parameters for the hip.
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.
Ectodermal dysplasia: a genetic review.

Science.gov (United States)

Deshmukh, Seema; Prashanth, S

2012-09-01

Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ectodermal dysplasia can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body. Each syndrome usually involves a different combination of symptoms, which can range from mild to severe. The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene can lead to different phenotypes and that mutations in the genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly. The aim of this paper is to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder. How to cite this article: Deshmukh S, Prashanth S. Ectodermal Dysplasia: A Genetic Review. Int J Clin Pediatr Dent 2012; 5(3):197-202.
Lower Lid Ectropion in Hypohidrotic Ectodermal Dysplasia

Directory of Open Access Journals (Sweden)

Xiaoyun Zhang

2015-01-01

Full Text Available We report a case of a lower lid ectropion with ectodermal dysplasia and ectropion blepharoplasty surgery experience. A 14-year-old Han nationality male patient with typical characteristics of hypohidrotic ectodermal dysplasia presented to our clinic for his right lower lid eversion. The patient was diagnosed as having hypohidrotic ectodermal dysplasia and underwent an uneventful blepharoplasty surgery. The lower lid maintained normal position during the 10-month follow-up period. Patients with ectodermal dysplasia could firstly visit ophthalmologist for their ectropion and blepharoplasty surgery could be useful for the disease.
Pelvic radiograph in skeletal dysplasias: An approach

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Manisha Jana

2017-01-01

Full Text Available The bony pelvis is constituted by the ilium, ischium, pubis, and sacrum. The pelvic radiograph is an important component of the skeletal survey performed in suspected skeletal dysplasia. Most of the common skeletal dysplasias have either minor or major radiological abnormalities; hence, knowledge of the normal radiological appearance of bony pelvis is vital for recognizing the early signs of various skeletal dysplasias. This article discusses many common and some uncommon radiological findings on pelvic radiographs along with the specific dysplasia in which they are seen; common differential diagnostic considerations are also discussed.
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)
Radiological features of bilateral hereditary micro-epiphyseal dysplasia - a distinct entity in the skeletal dysplasias

NARCIS (Netherlands)

Morstert, AK; Dijkstra, PF; van Horn, [No Value; Jansen, BRH; Heutink, P; Lindhout, D

Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959 [1], is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED). Material and Methods: We used the data of the revised pedigree with 84
Meyer's dysplasia epiphysealis

International Nuclear Information System (INIS)

Toro P, Alvaro de Jesus; Lopez C, Meisser A

2005-01-01

The skeletal dysplasias are a group of heterogeneous conditions since the clinical and genetic point of view, that to date they are about 200 different disorders. They have as common denominator an inconvenience of the normal process of growth and development of the bony weaving and their cartilaginous precursors. In this article the case of an adolescent of 16 years is presented with Meyer's dysplasia epiphysealis whose diagnostic was delayed and that as opposed to the cases reported in the literature required surgical treatment due to the persistent symptoms, and the literature is reviewed

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
Joint space width in dysplasia of the hip

DEFF Research Database (Denmark)

Jacobsen, Steffen; Sonne-Holm, Stig; Søballe, K

2005-01-01

In a longitudinal case-control study, we followed 81 subjects with dysplasia of the hip and 136 control subjects without dysplasia for ten years assessing radiological evidence of degeneration of the hip at admission and follow-up. There were no cases of subluxation in the group with dysplasia....... Neither subjects with dysplasia nor controls had radiological signs of ongoing degenerative disease at admission. The primary radiological discriminator of degeneration of the hip was a change in the minimum joint space width over time. There were no significant differences between these with dysplasia...... and controls in regard to age, body mass index or occupational exposure to daily repeated lifting at admission.We found no significant differences in the reduction of the joint space width at follow-up between subjects with dysplasia and the control subjects nor in self-reported pain in the hip...
Demographic Characteristics, Phenomenology, Comorbidity, and Family History in 200 Individuals With Body Dysmorphic Disorder

Science.gov (United States)

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.

Science.gov (United States)

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

2018-05-01

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

International Nuclear Information System (INIS)

Langer, R.; Langer, M.F.J.; Zwicker, C.

1987-01-01

Since January 1984 all newborns and infants with skeletal dysplasias and chromosomal aberrations were investigated by hip US, in addition to plain x-ray surveys. The authors observed one chondroectodermal dysplasia, one congenital spondyloepiphysial dysplasia, one cleidocranial dysplasia, one fibrochondrogenesis, two diastrophic dysplasias, and eight trisomies. The abnormalities of the hip joints could be demonstrated, and were compared with the findings on plain films. Especially skeletal dysplasias with abundant presence of cartilage were well visible. The newborn with trisomies showed normal hip joints. In the authors' opinion, all newborns with skeletal dysplasias should be investigated by hip sonography, in addition to skeletal radiography
Spondylometaphyseal dysplasia with hypercalcemia. [Radiological studies

Energy Technology Data Exchange (ETDEWEB)

Bagga, A.; Srivastava, R.N.; Gupta, S.; Gupta, A.

1989-08-01

Kozlowski's spondylometaphyseal dysplasia is characterised by short-trunk dwarfism, platyspondyly, metaphyseal dysplasia and retarded bone age. We report an association of this syndrome with asymptomatic, hypocalciuric hypercalcemia, a previously undocumented finding. (orig.).
A Cognitive-Behavioral Treatment Approach for Body Dysmorphic Disorder

Science.gov (United States)

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.

Science.gov (United States)

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
Hereditary onycho-osteo dysplasia syndrome

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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.
A case report of the fibrous dysplasia

International Nuclear Information System (INIS)

You, Dong Soo

1975-01-01

The author observed a rare case of fibrous dysplasia in 12 year old female who came to the Infirmary of Dental College, Seoul National University, complaining of facial asymmetry of 3 years' duration in right maxillofacial region. The serial radiograms has been taken, and the nature of the lesion established as a typical fibrous dysplasia according to the interpreted findings in their images. The author has obtained the results as follows: 1. Fibrous dysplasia occurred at 3 years of age in this case. 2. On familial tendency, traumatic history and endocrine disturbances were not noted in this patient. 3. The serial radiograms revealed a typical fibrous dysplasia encroaching right zygomatic bone.
A case report of the fibrous dysplasia

Energy Technology Data Exchange (ETDEWEB)

You, Dong Soo [Department of Radiology, College of Dentistry, Seoul National University, Seoul (Korea, Republic of)

1975-11-15

The author observed a rare case of fibrous dysplasia in 12 year old female who came to the Infirmary of Dental College, Seoul National University, complaining of facial asymmetry of 3 years' duration in right maxillofacial region. The serial radiograms has been taken, and the nature of the lesion established as a typical fibrous dysplasia according to the interpreted findings in their images. The author has obtained the results as follows: 1. Fibrous dysplasia occurred at 3 years of age in this case. 2. On familial tendency, traumatic history and endocrine disturbances were not noted in this patient. 3. The serial radiograms revealed a typical fibrous dysplasia encroaching right zygomatic bone.
Dentomaxillofacial characteristics of ectodermal dysplasia.

Science.gov (United States)

Nakayama, Yumiko; Baba, Yoshiyuki; Tsuji, Michiko; Fukuoka, Hiroki; Ogawa, Takuya; Ohkuma, Mizue; Moriyama, Keiji

2015-02-01

The aim of this retrospective hospital-based study was to elucidate the dentomaxillofacial characteristics of ectodermal dysplasia. Six Japanese individuals (one male and five female; age range, 12.7-27.2 years) underwent comprehensive examinations, including history recording, cephalometric analysis, panoramic radiography, and analysis of dental models. All the subjects had two or more major manifestations for clinical diagnosis of ectodermal dysplasia (e.g., defects of hair, teeth, nails, and sweat glands). They presented hypodontia (mean number of missing teeth, 9.5; range, 5-14), especially in the premolar region, and enamel dysplasia. Five subjects had bilateral molar occlusion, whereas one subject had unilateral molar occlusion. The common skeletal features were small facial height, maxillary hypoplasia, counterclockwise rotation of the mandible, and mandibular protrusion. Interestingly, the maxillary first molars were located in higher positions and the upper anterior facial height was smaller than the Japanese norm. The results suggest that vertical and anteroposterior maxillary growth retardation, rather than lack of occlusal support due to hypodontia, leads to reduced anterior facial height in individuals with ectodermal dysplasia. © 2014 Japanese Teratology Society.
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.
Chondroectodermal dysplasia: a rare syndrome.

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Dana Tahririan

2014-06-01

Full Text Available Chondroectodermal dysplasia (Ellis-Van Creveld syndrome is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.
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...
CT Imaging of Craniofacial Fibrous Dysplasia

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Zerrin Unal Erzurumlu

2015-01-01

Full Text Available Fibrous dysplasia is a benign fibroosseous bone dysplasia that can involve single (monostotic or multiple (polyostotic bones. Monostotic form is more frequent in the jaws. It is termed as craniofacial fibrous dysplasia, when it involves, though rarely, adjacent craniofacial bones. A 16-year-old girl consulted for a painless swelling in the right posterior mandible for two years. Panoramic radiography revealed ground-glass ill-defined lesions in the three different regions of the maxilla and mandible. Axial CT scan (bone window showed multiple lesions involving skull base and facial bones. Despite lesions in the skull base, the patient had no abnormal neurological findings. The lesion was diagnosed as fibrous dysplasia based on radiological and histopathological examination. In this paper, CT findings and differential diagnosis of CFD are discussed. CT is a useful imaging technique for CFD cases.
Ectodermal dysplasia: otolaryngologic evaluation of 23 cases.

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Yildirim, Muzeyyen; Yorgancilar, Ediz; Gun, Ramazan; Topcu, Ismail

2012-02-01

The aim of this prospective study was to improve the quality of life of and reduce morbidity for patients with ectodermal dysplasia by assessing their actual and potential ENT pathologies, and offering methods of prevention and treatment. The study was conducted between 2006 and 2008 and included 23 patients diagnosed with ectodermal dysplasia. The major symptoms of ectodermal dysplasia were evaluated. Patient histories were obtained in all cases, and a complete head and neck examination was carried out. Of the 23 patients (11 males and 12 females, aged 5 to 45 years) diagnosed with ectodermal dysplasia, 22 had hypohidrotic ectodermal dysplasia and 1 had ectrodactyly-ectodermal dysplasia-clefting syndrome. In all patients diagnosed with hypohidrotic ectodermal dysplasia, the salivary glands were examined by ultrasonography and, when necessary, by scintigraphy. Hearing defects in patients with otologic problems were determined by audiometric examination: 39.1% of the patients had hearing loss, 43.5% had otitis media, and 39.1% had impacted cerumen. The most common rhinologic findings were saddle nose deformity in 56.5%, nasal obstruction and nasal dryness (52.2% each), and chronic rhinitis/rhinosinusitis (34.8%). The most common oral and oropharyngeal findings were difficulty chewing in 82.6% and dry mouth in 78.3%. All 23 patients had required dental work. Because this disorder affects several aspects of the body, its treatment requires a multidisciplinary approach, with the otolaryngologist being a vital part of the management team.
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.

Cleidocranial Dysplasia: Report of Two Cases

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Avinash Kshar

2010-01-01

Full Text Available Cleidocranial dysplasia constitutes a congenital disorder manifested primarily in the development of facial and cranial bones, as well as partial development or complete absence of the clavicles and problems also arise on the number and eruption of teeth. It is a rare disease with autosomal dominant but 40% cases represented spontaneous mutations. This disease has no sex predilection. It is characterized by a generalized skeletal dysplasia. 1 In this article we are reporting two cases of cleidocranial dysplasia in son and father with characteristic clinical and radiographic features.
Enhancing the Detection of Dysmorphic Red Blood Cells and Renal Tubular Epithelial Cells with a Modified Urinalysis Protocol.

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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.

Science.gov (United States)

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.
Ectodermal dysplasia (ED) syndrome.

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Chee, Siew-Yin; Wanga, Chung-Hsing; Lina, Wei-De; Tsaia, Fuu-Jen

2014-01-01

Ectodermal dysplasia (ED) syndrome comprises a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from the embryonic ectoderm. The tissues primarily involved are the skin and its appendages (including hair follicles, eccrine glands, sebaceous glands, nails) and teeth. The clinical features include sparse hair, abnormal or missing teeth, and an inability to sweat due to lack of sweat glands. One such case report of ectodermal dysplasia is presented here.
Mondini Dysplasia Presenting as Otorrhea without Meningitis

OpenAIRE

Chien-Yu Lin; Hung-Ching Lin; Chun-Chih Peng; Kuo-Sheng Lee; Nan-Chang Chiu

2012-01-01

Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Surgical intervention is mandatory. This report highlights the case of a patient with Mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and treated before the occurrence of meningitis, thus preventing morbidity and neurologic sequelae. Hearing impairment may be the only manifestation of Mondini dysplasia, and the benefit of hearing screening is emp...
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.
Kidney Dysplasia

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... whose mothers used certain prescription medications or illegal drugs during pregnancy What are the signs of kidney dysplasia? Many ... the use of certain prescription medications or illegal drugs during pregnancy. Pregnant women should talk with their health care ...
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...
Knee radiography in the diagnosis of skeletal dysplasias

International Nuclear Information System (INIS)

Kwee, Thomas C.; Beek, Frederik J.A.; Nievelstein, Rutger A.J.; Beemer, Frits A.

2006-01-01

Flattening of the epiphyses of long bones is seen in several skeletal dysplasias and standardized measurements on a radiograph of the knee to detect skeletal dysplasias using this feature have been described. Since then only two other studies in which this method was used have been published, and both included only a small number of children and neither had a control group. In addition, the Dutch National Working Group on Skeletal Dysplasias began to have doubts about the reliability of the method. We therefore decided to re-evaluate its accuracy in a population of children with and without a skeletal dysplasia. To determine the diagnostic value of standardized measurements on conventional AP radiographs of the knee in children with a skeletal dysplasia. Subjects and methods: We measured the distal femoral metaphysis and epiphysis according to the published method on conventional AP radiographs of the knee in 45 healthy children and 52 children with a skeletal dysplasia. We compared graphically the height of the distal femoral epiphysis with its width and with the width of the femoral metaphysis. Receiver operating characteristic (ROC) curves were calculated for each group of children. All graphs showed a considerable overlap between children with a skeletal dysplasia and healthy children. The size of the area under the ROC curves for the different groups was small, varying between 0.567 and 0.653. This method does not discriminate between children with a skeletal dysplasia and healthy children. We therefore consider it to be of little diagnostic value. (orig.)
Prevalence of Body Dysmorphic Disorder in Plastic Surgery and Dermatology Patients: A Systematic Review with Meta-Analysis.

Science.gov (United States)

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 .
An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita

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Onur Elbasan

2017-12-01

Full Text Available Skeletal dysplasia is a complex and rare disease group that presents with clinical and radiological findings that differ from classical metabolic bone diseases in which bone and cartilage tissue are affected together. Spondyloepiphyseal dysplasia conjenita with involvement of the spine and long bone epiphyses is seen with short stature and short body from birth. Although bone deformities such as shortness of neck and vertebrae, kyphosis, scoliosis, pectus carinatum, genu varum or valgum are frequent, association with osteopenia/osteoporosis has been rarely reported. Although spondyloepiphyseal dysplasia tarda and osteopenia are coexisting in the literature, there is no evidence of the association of spondyloepiphyseal dysplasia tarda and conjunctiva with osteoporosis. In our case report, we presented a patient who was applied to our center with short stature, diagnosed with osteoporosis and spondyloepiphyseal dysplasia congenita by detecting femur head aplasia in radiological imaging.
[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.
[Florid cemento-osseous dysplasia of the jaws].

Science.gov (United States)

Benazzou, S; Boulaadas, M; El Ayoubi, A; Nazih, N; Essakalli, L; Kzadri, M

2011-06-01

Florid cemento-osseous dysplasia is a benign and rare tumor of the jaws. It is more commonly seen in middle-aged black women. Most cases are asymptomatic and are found during routine radiographic examination. We report two complicated cases of florid cemento-osseous dysplasia, one with facial deformity and the other with chronic osteitis. The diagnosis of florid cemento-osseous dysplasia is based on clinical and radiological features. The lesions are commonly bilateral and symmetrical. Copyright © 2011. Published by Elsevier Masson SAS.
Hypohidrotic and hidrotic ectodermal dysplasia: a report of two cases.

Science.gov (United States)

Vasconcelos Carvalho, Marianne; Romero Souto de Sousa, José; Paiva Correa de Melo, Filipe; Fonseca Faro, Tatiane; Nunes Santos, Ana Clara; Carvalho, Silvia; Veras Sobral, Ana Paula

2013-07-14

Ectodermal dysplasias are a large group of syndromes characterized by anomalies in the structures of ectodermal origin. There are 2 major types of this disorder, based on clinical findings: hypohidrotic ectodermal dysplasia and hidrotic ectodermal dysplasia. This clinical classification is very important because clinical professionals involved with this disease need first a clear and practical method of diagnosis. The main oral manifestation of ectodermal dysplasia may be expressed as hypodontia. Thus, dental professionals may be the first to diagnose ectodermal dysplasia. The present article reports one case of each of the main types (hypohidrotic and hidrotic) of ectodermal dysplasia and the authors review the literature regarding the pathogenesis, clinical features, and therapeutic management of this condition.
[Cochleovestibular dysplasia: a case report].

Science.gov (United States)

Darbi, A; Cenoui, F; Atmane, A; Amil, T; Hanine, A

2010-04-01

Cochleovestibular dysplasia or Mondini malformation is exceptional. Cochlear dysplasia is due to early cessation of the development of the inner ear during embryonic life. We report on the case of an infant who presented with perception deafness and repeated meningitis. CT allowed the diagnosis of Mondini malformation. We underline the importance of high-resolution CT in the diagnosis of Mondini malformation. Copyright 2010 Elsevier Masson SAS. All rights reserved.
Müllerian agenesis with hypohidrotic ectodermal dysplasia syndrome.

Science.gov (United States)

Whaley, Katie; Winter, Jordan; Eyster, Kathleen M; Hansen, Keith A

2012-04-01

To describe the association of müllerian agenesis with hypohidrotic ectodermal dysplasia. Case report. University medical center. A 17-year-old woman with hypohidrotic ectodermal dysplasia referred for evaluation of primary amenorrhea. History, physical examination, and ultrasound. Physical findings of these two syndromes. Physical examination and ultrasound demonstrated müllerian agenesis with findings of hypohidrotic ectodermal dysplasia. This is the first description of the association of müllerian agenesis with ectodermal dysplasia. This rare case might provide further insight into the development of the uterus and the ectoderm as well as its derivatives. Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
[Mondini dysplasia: traumatic cerebrospinal fluid otorrhea with meningitis].

Science.gov (United States)

Kaftan, H; Adamaszek, M; Hosemann, W

2006-08-01

Mondini dysplasia is a rare malformation of the inner ear commonly associated with loss of hearing and vestibular function. Children with Mondini dysplasia are predisposed to developing a spontaneous cerebrospinal fluid (CSF) leak and recurrent meningitis. If there is no CSF leak but a unilateral hearing loss, the condition may go undiagnosed for years. We describe a 65-year-old man with unrecognized unilateral Mondini dysplasia who presented with CSF leak and meningoencephalitis after minor head trauma. Two operative interventions were undertaken to close the defect properly. Patients with Mondini dysplasia or their parents should be cautioned about the potential hazards of any head trauma.
Focal cemento-osseous dysplasia: review and a case report.

Science.gov (United States)

Salem, Y M Y; Osman, Y I; Norval, E J G

2010-10-01

Focal cemento-osseous dysplasia is a benign fibro-osseous condition that can be seen in dentate and edentulous patients. It is an asymptomatic lesion and needs no treatment; however follow-up is essential due to the possibility that focal cemento-osseous dysplasia can progress to a condition called florid osseous dysplasia that involves multiple sites. A case report is presented here, along with a review of the differential diagnoses considered in order to reach a final diagnosis of focal cemento-osseous dysplasia.
Anhidrotic ectodermal dysplasia presenting as atrophic rhinitis.

Science.gov (United States)

Barman, Debasis; Mandal, Satadal; Nandi, Santanu; Banerjee, Pranabashish; Rashid, M A

2011-11-01

Ectodermal dysplasia is a complex group of familial disorders with numerous clinical characteristics, with an incidence of 7 in 10000 born alive children. Ectodermal dysplasia affects structures of ectodermal origin like the skin and its appendages as well as other non-ectodermal structures. The most common sites of involvement are the defects in the skin, hair, teeth, nails and sweat glands,which are of ectodermal origin. Though the dermatologists and paediatricians often manage such cases, we report one case of ectodermal dysplasia presenting with atrophic rhinitis.
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

Expanding the phenome and variome of skeletal dysplasia.

Science.gov (United States)

Maddirevula, Sateesh; Alsahli, Saud; Alhabeeb, Lamees; Patel, Nisha; Alzahrani, Fatema; Shamseldin, Hanan E; Anazi, Shams; Ewida, Nour; Alsaif, Hessa S; Mohamed, Jawahir Y; Alazami, Anas M; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Abouelhoda, Mohamed; Monies, Dorota; Al Tassan, Nada; Alshammari, Muneera; Alsagheir, Afaf; Seidahmed, Mohammed Zain; Sogati, Samira; Aglan, Mona S; Hamad, Muddathir H; Salih, Mustafa A; Hamed, Ahlam A; Alhashmi, Nadia; Nabil, Amira; Alfadli, Fatima; Abdel-Salam, Ghada M H; Alkuraya, Hisham; Peitee, Winnie Ong; Keng, W T; Qasem, Abdullah; Mushiba, Aziza M; Zaki, Maha S; Fassad, Mahmoud R; Alfadhel, Majid; Alexander, Saji; Sabr, Yasser; Temtamy, Samia; Ekbote, Alka V; Ismail, Samira; Hosny, Gamal Ahmed; Otaify, Ghada A; Amr, Khalda; Al Tala, Saeed; Khan, Arif O; Rizk, Tamer; Alaqeel, Aida; Alsiddiky, Abdulmonem; Singh, Ankur; Kapoor, Seema; Alhashem, Amal; Faqeih, Eissa; Shaheen, Ranad; Alkuraya, Fowzan S

2018-04-05

PurposeTo describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized.MethodsDetailed phenotyping and next-generation sequencing (panel and exome).ResultsOur analysis revealed 224 pathogenic/likely pathogenic variants (54 (24%) of which are novel) in 123 genes with established or tentative links to skeletal dysplasia. In addition, we propose 5 genes as candidate disease genes with suggestive biological links (WNT3A, SUCO, RIN1, DIP2C, and PAN2). Phenotypically, we note that our cohort spans 36 established phenotypic categories by the International Skeletal Dysplasia Nosology, as well as 18 novel skeletal dysplasia phenotypes that could not be classified under these categories, e.g., the novel C3orf17-related skeletal dysplasia. We also describe novel phenotypic aspects of well-known disease genes, e.g., PGAP3-related Toriello-Carey syndrome-like phenotype. We note a strong founder effect for many genes in our cohort, which allowed us to calculate a minimum disease burden for the autosomal recessive forms of skeletal dysplasia in our population (7.16E-04), which is much higher than the global average.ConclusionBy expanding the phenotypic, allelic, and locus heterogeneity of skeletal dysplasia in humans, we hope our study will improve the diagnostic rate of patients with these conditions.GENETICS in MEDICINE advance online publication, 5 April 2018; doi:10.1038/gim.2018.50.
Shadows of Beauty - Prevalence of Body Dysmorphic Concerns in Germany is Increasing: Data from Two Representative Samples from 2002 and 2013.

Science.gov (United States)

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.
Renal dysplasia and MRI: a clinician's perspective

Energy Technology Data Exchange (ETDEWEB)

Greenbaum, Larry A. [Emory University, Division of Pediatric Nephrology, Children' s Healthcare of Atlanta, Atlanta, GA (United States)

2008-01-15

Renal dysplasia is a common abnormality in children. The role of MRI in evaluating children with renal dysplasia is evolving. More information is clearly necessary before MRI replaces conventional imaging modalities. In order to appropriately use MRI, the radiologist must have an understanding of the clinical questions that are important in the management of children with renal dysplasia. This review provides background information on renal dysplasia for the pediatric radiologist. The focus is on unilateral disease, especially multicystic dysplastic kidneys, and bilateral dysplasia, which is the most common cause of kidney failure in children. The emphasis is on the important clinical issues, and the potential of MRI as a methodology for providing clinically useful information not otherwise available from other imaging modalities. (orig.)
Mondini Dysplasia Presenting as Otorrhea without Meningitis

Directory of Open Access Journals (Sweden)

Chien-Yu Lin

2012-12-01

Full Text Available Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Surgical intervention is mandatory. This report highlights the case of a patient with Mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and treated before the occurrence of meningitis, thus preventing morbidity and neurologic sequelae. Hearing impairment may be the only manifestation of Mondini dysplasia, and the benefit of hearing screening is emphasized. Temporal bone computed tomography should be considered in children with unilateral sensorineural or mixed-type hearing impairment.
Malignant transformation of fibrous dysplasia into chondroblastic osteosarcoma

International Nuclear Information System (INIS)

Kaushik, Shaifali; Smoker, Wendy R.K.; Frable, William J.

2002-01-01

A case of malignant transformation of polyostotic fibrous dysplasia into maxillary chondroblastic osteosarcoma is presented. The clinical, radiographic, CT, MR imaging features and pathological findings of polyostotic fibrous dysplasia and its malignant transformation are described. Malignant transformation of fibrous dysplasia is rare and has not previously been described in the English literature in this location in McCune-Albright syndrome and in the absence of radiation treatment. (orig.)
Frontofacionasal Dysplasia

African Journals Online (AJOL)

rme

226. Frontofacionasal Dysplasia: Another Observation eye. Other ocular features include small eyes, iris colobomas and cataracts. A frontally situated lipoma, causing a swelling at the nasion, was reported in one patient and an encephalocele has been described.3. Mental retardation has been reported in one patient with.
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.

Science.gov (United States)

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,
Fibrous dysplasia of the femoral neck

International Nuclear Information System (INIS)

Savage, P.E.; Stoker, D.J.

1984-01-01

Fibrous dysplasia of the femur is usually observed in the intertrochanteric region. It is rarely confined to the femoral neck. We present four cases illustrating the radiographic appearance and spectrum of this condition which all showed the relatively lucent variety of fibrous dysplasia with varying degrees of expansion and surrounding sclerosis. The natural history of this condition is discussed. (orig.)
Mondini dysplasia presenting as otorrhea without meningitis.

Science.gov (United States)

Lin, Chien-Yu; Lin, Hung-Ching; Peng, Chun-Chih; Lee, Kuo-Sheng; Chiu, Nan-Chang

2012-12-01

Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Surgical intervention is mandatory. This report highlights the case of a patient with Mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and treated before the occurrence of meningitis, thus preventing morbidity and neurologic sequelae. Hearing impairment may be the only manifestation of Mondini dysplasia, and the benefit of hearing screening is emphasized. Temporal bone computed tomography should be considered in children with unilateral sensorineural or mixed-type hearing impairment. Copyright © 2012. Published by Elsevier B.V.
Anomalies of tooth formation in hypohidrotic ectodermal dysplasia

DEFF Research Database (Denmark)

Lexner, Michala O; Bardow, Allan; Hertz, Jens Michael

2007-01-01

OBJECTIVE: The X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult because of the varying degrees of clinical signs caused by X-chromosome inactivation. This study is the fi......OBJECTIVE: The X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult because of the varying degrees of clinical signs caused by X-chromosome inactivation. This study...... affected males had multiple missing permanent teeth and tooth malformations. The heterozygous females had a significantly higher frequency of agenesis of permanent teeth compared to normative data. The heterozygous females had an increased prevalence of tooth malformations and reduced tooth size...
Spondylometaepiphyseal dysplasia in a mother and her child

Energy Technology Data Exchange (ETDEWEB)

Pettersson, H; Nilsson, K O [Section of Pediatric Radiology, Department of Diagnostic Radiology, and the Department of Pediatrics, Malmoe Allmaenna Sjukhus, Malmoe, Sweden

1979-01-01

Variant types of spondylometaepiphyseal dysplasia in a mother and her child is reported. Several stages of the disorder are presented, demonstrating the principal difficulties in distinguishing variant types of skeletal dysplasia.
The scapula as a window to the diagnosis of skeletal dysplasias

International Nuclear Information System (INIS)

Mortier, G.R.; Rimoin, D.L.; Lachman, R.S.

1997-01-01

Evaluation of the scapula can be useful in the diagnosis of skeletal dysplasias and helpful for the classification and delineation of new entities. A review of 2100 computerized cases of skeletal dysplasias in the International Skeletal Dysplasia Registry was performed. We found that the Luton type of platyspondylic lethal skeletal dysplasia differed radiographically from the San Diego type and Torrance type by the presence of two spikes at the inferior angle of the scapula. Hypoplasia of the body of the scapula, which is characteristic for campomelic dysplasia but not for kyphomelic dysplasia, is also present in Antley-Bixler syndrome. Radiographic and clinical similarities between campomelic dysplasia and Antley-Bixler syndrome suggest that they might be related disorders and that the latter condition should be included in the bent-bone dysplasia group. Similarity between the metaphyseal regions of the scapula and the metaphyses of the long tubular bones in the different types of short-rib polydactyly syndrome illustrates the importance of evaluation of the scapula in this group as well as in other well-defined or unknown osteochondrodysplasias. (orig.). With 8 figs
Fibrous dysplasia with cartilaginous differentiation (''fibrocartilaginous dysplasia''): a review, with an illustrative case followed for 18 years

International Nuclear Information System (INIS)

Kyriakos, Michael; McDonald, Douglas J.; Sundaram, Murali

2004-01-01

A 21-year-old man with an 18-year history of progressive, and deforming, monomelic fibrous dysplasia with massive cartilaginous differentiation (fibrocartilaginous dysplasia) is described. A review is made of all prior reported examples of this entity in the English language medical literature. The radiologic and histologic differential diagnoses are described, distinguishing the lesion from chondrosarcoma and from fibrocartilaginous mesenchymoma. (orig.)
Relationship between flexible flat foot and developmental hip dysplasia.

Science.gov (United States)

Ponce de León Samper, M C; Herrera Ortiz, G; Castellanos Mendoza, C

2015-01-01

To evaluate the possible relationship between flexible flat foot and developmental hip dysplasia in children between six and 15 years of age. Cross-sectional study including 65 patients that had undergone surgery due to residual hip dysplasia or hip dislocation and compared against 75 healthy patients. Flexible flat foot prevalence was measured in each group, with the results showing that 61% of the group with residual hip dysplasia or hip dislocation had this condition, vs. 12% in the healthy group. The statistical analysis shows that the chances of suffering from flexible flat foot, are five times greater in the hip dysplasia or hip dislocation group, than in the healthy group. There is no evidence in the literature showing a relationship between these two conditions, even though they have a common etiology. This study shows a potential measurable relation between this two conditions. Patients with hip dysplasia or dislocation may have a higher chance of presenting flexible flat foot during late childhood, adolescence and adulthood, a fact that suggests a relationship between these two pathologies. Also, patients who seek assistance for the first time because of a flexible flat foot condition without having been evaluated during the first year of life for hip dysplasia, would be better off if evaluated for residual hip dysplasia. Copyright © 2014 SECOT. Published by Elsevier Espana. All rights reserved.
Locally Aggressive Fibrous Dysplasia Mimicking Malign Calvarial Lesion.

Science.gov (United States)

Ogul, Hayri; Keskin, Emine

2018-05-01

Fibrous dysplasia is an unusual benign bone tumor. It is divided into 3 groups as monostotic, polyostotic, and craniofacial form. The authors reported an unusual patient with fibrous dysplasia with an aggressive radiologic appearance.
Gender similarities and differences in 200 individuals with body dysmorphic disorder⋆

Science.gov (United States)

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
The role of the acetabular labrum in hip dysplasia

DEFF Research Database (Denmark)

Hartig-Andreasen, Charlotte; Søballe, Kjeld; Troelsen, Anders

2013-01-01

A periacetabular osteotomy (PAO) is the preferred joint preserving treatment for young adults with symptomatic hip dysplasia and no osteoarthritis. In symptomatic dysplasia of the hip, there is labral pathology in up to 90% of cases. However, no consensus exists as to whether a labral tear should...... be treated before the periacetabular osteotomy (PAO), treated simultaneously with the PAO, or left alone and only treated if symptoms persist after the PAO. This review is an update of aspects of labral anatomy and function, the etiology of labral tears in hip dysplasia, and diagnostic assessment of labral...... tears, and we discuss treatment strategies for coexisting labral tears and hip dysplasia....
The association between cervical dysplasia, a short cervix, and preterm birth.

Science.gov (United States)

Miller, Emily S; Sakowicz, Allie; Grobman, William A

2015-10-01

We sought to determine whether cervical dysplasia in the absence of an excisional procedure is associated with an increased risk of preterm birth (PTB) and whether that risk is independent of the presence of a short cervix. This is a cohort study including women with a singleton pregnancy who underwent routine cervical length assessment between 18-23 6/7 weeks of gestation, stratified by cervical dysplasia (ie, no prior dysplasia, prior dysplasia but no excisional procedure, or prior excisional procedure). The frequency of a short cervix (≤2.5 cm) and PTB were compared between groups and multivariable analyses were performed to identify whether: (1) dysplasia alone or a prior excisional procedure was associated with PTB; and (2) whether these factors remained independently associated with PTB after adjusting for the presence of a short cervix. Of the 18,528 women who met inclusion criteria, 3023 (16.3%) had prior dysplasia alone and 1356 (7.3%) had a prior excisional procedure. The frequency of a short cervix for women without dysplasia, with prior dysplasia alone, or with a prior excisional procedure was 0.8%, 1.0%, and 2.2%, respectively (P cervix. Copyright © 2015 Elsevier Inc. All rights reserved.

The association between gender and familial prevalence of hip dysplasia in Danish patients

DEFF Research Database (Denmark)

El Jashi, Rima; Gustafson, Maria B; Jakobsen, Mette B

2017-01-01

BACKGROUND: The development of hip dysplasia is associated with several risk factors. 1 of these risk factors is gender, since 80% of patients with symptomatic hip dysplasia are females. Another risk factor for hip dysplasia is familial predisposition of hip dysplasia. Several studies indicate...... that the risk of hip dysplasia is increased with familial prevalence of hip dysplasia. However, little is known about the association between the familial prevalence and gender and the development of hip dysplasia. PURPOSE: The aim of the study was to estimate the prevalence of hip dysplasia among relatives...... to Danish patients with hip dysplasia operated with periacetabular osteotomy (PAO), and the degree of relationship of affected family members. Furthermore, to assess the association between gender and family predisposition in the same group of patients. METHOD: The study is a cross-sectional study...
Secondary influences and ectopic causes of canine hip dysplasia. Critical constructive thoughts to hip dysplasia diagnostics and to current breeding strategies

International Nuclear Information System (INIS)

Schawalder, P.; Spreng, D.; Dietschi, E.; Dolf, G.; Gaillard, C.

1996-01-01

This article questions the stagnation of breeding results by hip dysplasia screening and its current etiology. The ''Coxa Valga Antetorta'', anteversion of the hip joint and ''soft tissue displasia'' are discussed besides a multitude of primary diseases leading to growth deformities and other diseases in the hip. Ectopic primary causes like malformation of the spine leading to a secondary ''dysplatic'' osteoarthritis of the hip (functional secondary dysplasia) are also discussed in this article. Recent and very promising breeding strategies (estimation of the breeding value) in the battle against hip dysplasia are presented. Biochemical, immunological and structural aspects are presented as a not totally utopic perspecitive. Molecular genetic markers for hip dysplasia will offer in the near future a possibility to detect carriers ct the disease by a blood sample ion before clinical manifestation
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.

Science.gov (United States)

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.
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 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
Hip dysplasia and congenital hip dislocation

Energy Technology Data Exchange (ETDEWEB)

Lingg, G.; Nebel, G.; von Torklus, D.

1981-11-01

In human genetics and orthopedics quite different answers have been given to the question of hereditary transmission and frequency of hip dysplasia in families of children with congenital hip dislocation. We therefore have made roentgenometric measurements of 110 parents of children with congenital hip dislocation. In 25% we found abnormal flat acetabulae, whereas 12% had pathologic deep hips. This may propose a new concept of morphology of congenital hip dysplasia.
Genetics Home Reference: X-linked spondyloepiphyseal dysplasia tarda

Science.gov (United States)

... Educational Resources (6 links) Cincinnati Children's Hospital: Coxa Vera Disease InfoSearch: Spondyloepiphyseal dysplasia tarda X-linked Johns ... Free article on PubMed Central Savarirayan R, Thompson E, Gécz J. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). ...
Thanatophoric Dysplasia: A Rare Entity

Directory of Open Access Journals (Sweden)

N.S. Naveen

2011-05-01

Full Text Available Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. The child will be having a short neck, narrow thoracic cage and protuberant abdomen. Other anatomical features include a relatively enlarged head with frontal bossing, prominent eyes, hypertelorism and the depressed nasal bridge. The diagnosis is usually made with the ultrasonography in the second trimester. In this study we report a case of this rare entity with emphasis on its anatomical features, abnormalities and clinical profile with relevant review of literature.
Papillary bile duct dysplasia in primary sclerosing cholangitis.

Science.gov (United States)

Ludwig, J; Wahlstrom, H E; Batts, K P; Wiesner, R H

1992-06-01

A 62-year-old man with a 20-year history of chronic ulcerative colitis and a 9-year history of primary sclerosing cholangitis (PSC) underwent orthotopic liver transplantation because of symptoms related to PSC and cholangiographic features compatible with a biliary neoplasm. Study of the excised liver revealed papillary mucosal lesions in the common hepatic duct and the right and left hepatic ducts as well as cholangiectases and other features typically associated with PSC. The papillary lesions consisted of abundant fibrovascular stroma covered by biliary epithelium with low-grade and high-grade dysplasia. Some periductal glands were also dysplastic. These features distinguished papillary dysplasia from classic biliary papillomatosis. Only one focus of microinvasion was found; there were no metastases. Among 60 cases of PSC in whom the entire liver could be studied after orthotopic liver transplantation, this was the only instance of unequivocal dysplasia. However, in one specimen, papillary hyperplasia was found. Detailed macroscopic and microscopic rereview of 23 livers from our patients with the longest history of PSC (range, 5-24 years) failed to reveal any additional cases with dysplasia. It is concluded that (a) papillary mucosal lesions in PSC may represent papillary dysplasia without invasion; (b) these lesions may evolve from papillary hyperplasia; (c) the process may be largely, if not entirely, in situ; and (d) the prevalence of dysplasia and carcinoma of bile ducts may be less than the 7%-9% reported in the literature for malignancies associated with PSC.
Thanatophoric Dysplasia; a Rare Case Report on a Congenital Anomaly

Directory of Open Access Journals (Sweden)

Maria Francis Yuvaraj

2017-01-01

Full Text Available The rare form of skeletal dysplasia is thanatophoric dysplasia. The meaning for thanatophoric dysplasia is death bearing which is derived from Greek word. It occurs 1in 20,000 to 50,000. It is mainly due to mutations in the fibroblast growth factor receptor 3gene. Features of thanatophoric dysplasia are frontal bossing, prominent eyes, narrow thorax, protruded abdomen and bowed legs. The knowledge about this condition is useful in the fields of Anatomy, Paediatrics, Obstetrics and Gynaecology, Ultrasonagraphy and Genetics, for future research purpose.
The Ectodermal Dysplasias : Severe Palmoplantar Hyperkeratosis And Chronic Angular Cheilitis

Directory of Open Access Journals (Sweden)

Mahajan Vikram K

2003-01-01

Full Text Available The ectodermal dysplasias are congenital, non-progressive and diffuse disorders affecting primarily the tissues derived from ectoderm. Over a period, their classification has become confusing due to indiscriminate use of them â€ectodermal dysplasiaâ€ for numerous syndromes with a defect in one or more epidermal defect in each element of skin; their precise classification appears difficult as yet. Only X-linked recessive ectodermal dysplasia (Christ-Siemens-Touraine syndrome remains best defined. This paper describes three cases of ectodermal dysplasias highlighting their overlapping features.
Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome

Directory of Open Access Journals (Sweden)

Reema Sharma Dhar

2014-01-01

Full Text Available Ectrodactyly-ectodermal dysplasia-cleft (EEC syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.
Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.

Science.gov (United States)

Dhar, Reema Sharma; Bora, Amitava

2014-01-01

Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.
Progressive pseudorheumatoid dysplasia in North and West Africa ...

African Journals Online (AJOL)

Progressive pseudorheumatoid dysplasia is a rare autosomal recessive spondyloepiphyseal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Short stature, joint contractures, gait disturbance, and scoliosis and/or ...
Relative relationships of general shame and body shame with body dysmorphic phenomenology and psychosocial outcomes.

Science.gov (United States)

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.
Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism

Energy Technology Data Exchange (ETDEWEB)

Macpherson, R.I.; Wood, B.P.

1980-07-01

Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed.
A Case with Mental Retardation, Gynecomastia and Dysmorphic Features

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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…
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.)

Treatment of oral dysplasia with 5% imiquimod cream: short communication.

Science.gov (United States)

Mullins, R; Ansell, M; Laverick, S

2016-11-01

We report what we think is the first treatment of oral dysplasia with 5% imiquimod cream. A 60-year-old man presented with varying degrees of dysplasia on the soft palate. A cover plate was fabricated and the patient was prescribed 5% imiquimod cream, a topical imunomodulator, for six weeks. The lesion improved and histological examination of an incisional biopsy found no features of dysplasia. This case highlights the efficacy of imiquimod cream in the treatment of dysplasia, and the need for development of a preparation suitable for the oral mucosa. Copyright Â© 2016. Published by Elsevier Ltd.
Penile Dysmorphic Disorder: Development of a Screening Scale.

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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.
Pseudoachondroplastic dysplasia.

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Khungar A

1993-04-01

Full Text Available Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. We report here a case of a 7 year old girl misdiagnosed as rickets, who presented with short stature, lordosis, genu varum and flexion deformities at both the elbows. Skeletal survey revealed epiphyseal and metaphyseal irregularities. A review of literature is also presented.
Joint space width in dysplasia of the hip

DEFF Research Database (Denmark)

Jacobsen, Steffen; Sonne-Holm, Stig; Søballe, K

2005-01-01

. Neither subjects with dysplasia nor controls had radiological signs of ongoing degenerative disease at admission. The primary radiological discriminator of degeneration of the hip was a change in the minimum joint space width over time. There were no significant differences between these with dysplasia...
[Protein-energy malnutrition in patients with connective tissue dysplasia].

Science.gov (United States)

Lialiukova, E A

2013-01-01

In the conditions of the specialized Center of a dysplasia of a connecting tissue the assessment of an protein--energy malnutrition at 121 patients with signs of a dysplasia of a connecting tissue is carried out. High frequency of an oligotrophy at patients with a dysplasia of a connecting tissue is registered. The I degree of a gipotorofiya is taped at 26.21% of the patients, II degree--at 18.44%, the III degree--at 3.88% of patients.
Prosthodontic management of a patient with ectodermal dysplasia.

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Nandini, Yamini

2013-12-01

Ectodermal dysplasia is a rare congenital disease that affects the ectodermal structures. It is characterized by hypotrichosis, hypohidrosis and hypodontia. A 14-year-old boy with ectodermal dysplasia presenting with oligodontia and marked resorption of the maxillary and mandibular alveolar ridges is reported. Prosthetic rehabilitation in the form of a maxillary and mandibular partial denture was made with metal crowns on existing lower teeth to achieve appropriate vertical dimension. Significant improvement in speech, masticatory function and facial esthetics was achieved. Removable prosthodontics can provide an acceptable solution to esthetic, functional and psychological rehabilitation in patients with ectodermal dysplasia.
Immunohistochemical Expression of MCM-2 in Oral Epithelial Dysplasias.

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Zakaria, Samar H; Farag, Heba A; Khater, Dina S

2016-03-17

Oral cancer is one of the most frequent cancers in the world. It arises from epithelial dysplasia. Hence, identifying these lesions in an early stage could prevent their malignant transformation. The aim of the present work was to assess the cell proliferative activity of minichromosome maintenance protein (MCM-2) in oral epithelial dysplastic lesions and to correlate the results with different grades of epithelial dysplasia in an attempt to use MCM-2 in the early detection of malignancy. MCM-2 expression was determined by the nuclear count in a total of 30 oral epithelial dysplastic specimens roughly classified into 10 cases of mild, moderate, and severe dysplasia. Five cases of early invasive squamous-cell carcinomas and 5 cases of epithelial hyperplasia were also included. The MCM-2 immunostaining was found to increase gradually from mild to moderate to severe dysplasia and reached its maximum value in early invasive squamous cell carcinoma. MCM-2 is of prognostic value in cases of oral dysplasia that have a tendency to undergo malignant transformation.
Craniofacial fibrous dysplasia - A review of current management techniques

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Yadavalli Guruprasad

2012-01-01

Full Text Available Fibrous dysplasia is a pathologic condition of bone of unknown etiology with no apparent familial, hereditary or congenital basis. Lichtenstein first coined the term in 1938 and in 1942 he and Jaffe separated it from other fibro-osseous lesions. It is a bone tumor that, although benign, has the potential to cause significant cosmetic and functional disturbance, particularly in the craniofacial skeleton. Its management poses significant challenges to the surgeon. Craniofacial fibrous dysplasia is 1 of 3 types of fibrous dysplasia that can affect the bones of the craniofacial complex, including the mandible and maxilla. Fibrous dysplasia is a skeletal developmental disorder of the bone-forming mesenchyme that manifests as a defect in osteoblastic differentiation and maturation. It is a lesion of unknown etiology, uncertain pathogenesis, and diverse histopathology. Fibrous dysplasia represents about 2, 5% of all bone tumors and over 7% of all benign tumours. Over the years, we have gained a better understanding of its etiology, clinical behavior, and both surgical and non-surgical treatments.
Concurrent follicular dysplasia and interface dermatitis in Boxer dogs.

Science.gov (United States)

Rachid, Milene A; Demaula, Christopher D; Scott, Danny W; Miller, William H; Senter, David A; Myers, Sherry

2003-06-01

Recurrent or persistent follicular dysplasia and interface dermatitis are described in nine Boxers. Data on age, sex, seasonality of alopecia and histopathological features of the follicular dysplasia in these nine Boxers are comparable with those described in previous reports. The interface dermatitis was characterized by multifocal annular crusted lesions confined to the areas of follicular dysplasia. The inflammatory lesions were neither pruritic nor painful and affected dogs were otherwise healthy. Histopathologically the clinically inflammatory lesions were characterized as an interface dermatitis. Immunohistochemical studies failed to demonstrate immunoglobulins or complement at the basement membrane zone or within blood vessel walls. In dogs with recurrent or persistent disease, the follicular dysplasia and interface dermatitis ran identical, concurrent courses of spontaneous remission and recurrence, or persistence, respectively. One dog with persistent disease was treated successfully with tetracycline and niacinamide for the interface dermatitis, and melatonin for the follicular dysplasia. Although the aetiopathogenesis of this newly described condition and the relationship between the two histological reaction patterns are not known, photoperiod and genetic predisposition appear to play a role.
Suicidality in Body Dysmorphic Disorder

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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
Mondini dysplasia

International Nuclear Information System (INIS)

Takeda, Taizo; Kakigi, Akinobu; Takeuchi, Shunji; Saito, Haruo

1992-01-01

Recent advances in imaging technique, including high resolution thin section computed tomography scanning and magnetic resonance imaging (MRI), permit the easy diagnosis of congenital malformations of the osseous labyrinth, which have so far been lumped together as 'Mondini dysplasia'. In the present study, the anatomic patterns from the radiogrpahic appearance and the clinical manifestation were examined in 18 patients (23 ears) with radiographic abnormalities of the inner ear. The most common abnormal configuration was a large vestibule (20 of 23 ears). This anomaly of the vestibule often involved the lateral semicircular canal, revealed as a round high signal zone on T2-weighted MRI. However, a large vestibule was not always associated with an abnormal cochlea. Abnormal cochleas were found in 8 of the 20 ears with a large vestibule, and most of these 8 ears had total or profound deafness. But 4 of the 10 ears with residual hearing had low tone deafness and 6 had fluctuating hearing loss, which was frequently associated with attacks of dizziness. These clinical manifestations of Mondini dysplasia are similar to those of patients with endolymphatic hydrops. (author)
Sessile serrated adenomas with dysplasia: morphological patterns and correlations with MLH1 immunohistochemistry.

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Liu, Cheng; Walker, Neal I; Leggett, Barbara A; Whitehall, Vicki Lj; Bettington, Mark L; Rosty, Christophe

2017-12-01

Sessile serrated adenomas are the precursor polyp of approximately 20% of colorectal carcinomas. Sessile serrated adenomas with dysplasia are rarely encountered and represent an intermediate step to malignant progression, frequently associated with loss of MLH1 expression. Accurate diagnosis of these lesions is important to facilitate appropriate surveillance, particularly because progression from dysplasia to carcinoma can be rapid. The current World Health Organization classification describes two main patterns of dysplasia occurring in sessile serrated adenomas, namely, serrated and conventional. However, this may not adequately reflect the spectrum of changes seen by pathologists in routine practice. Furthermore, subtle patterns of dysplasia that are nevertheless associated with loss of MLH1 expression are not encompassed in this classification. We performed a morphological analysis of 266 sessile serrated adenomas with dysplasia with concurrent MLH1 immunohistochemistry with the aims of better defining the spectrum of dysplasia occurring in these lesions and correlating dysplasia patterns with MLH1 expression. We found that dysplasia can be divided morphologically into four major patterns, comprising minimal deviation (19%), serrated (12%), adenomatous (8%) and not otherwise specified (79%) groups. Minimal deviation dysplasia is defined by minor architectural and cytological changes that typically requires loss of MLH1 immunohistochemical expression to support the diagnosis. Serrated dysplasia and adenomatous dysplasia have distinctive histological features and are less frequently associated with loss of MLH1 expression (13 and 5%, respectively). Finally, dysplasia not otherwise specified encompasses most cases and shows a diverse range of morphological changes that do not fall into the other subgroups and are frequently associated with loss of MLH1 expression (83%). This morphological classification of sessile serrated adenomas with dysplasia may represent an
Bilateral anophthalmia with septo-optic dysplasia

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Manisha Jana

2010-01-01

Full Text Available Bilateral anophthalmia is a rare entity and association with septo-optic dysplasia is an even rare condition. The condition is characterized by absent eyeballs in the presence of eyelids, conjunctiva or lacrimal apparatus. Though anophthalmia can be diagnosed clinically, imaging plays a crucial role in delineating the associated anomalies. In addition, often clinical anophthalmia may prove to be severe microphthalmia on imaging. We describe the imaging findings in an infant with bilateral anophthalmia and septo-optic dysplasia.
Comparison of three methods to diagnose hip dysplasia in dogs

International Nuclear Information System (INIS)

Sharma, Vikas; Mohindroo, J.

2009-01-01

The present study was designed to compare the usefulness of goniometry, radiography and distraction index in diagnosis of hip dysplasia in dogs. During the study 25 clinical cases (50 joints) suspected for hip dysplasia were evaluated. Norberg angle was found to have a significant positive correlation with extension, flexion, abduction, and adduction angles and a significant negative correlation with distraction index (DI) measurements. It could be inferred that all the six parameters (NA, DI, extension, flexion, abduction, and adduction) were reliable indicators for early diagnosis of hip dysplasia.Goniometry could be used as a safe and easy method for preliminary suspicion of hip dysplasia
Urethral dysontogenic metaplasia in cat with bilateral renal dysplasia

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Carolina da Fonseca Sapin

2017-10-01

Full Text Available This paper to describe a case of dysontogenic urethral metaplasia in a one month old mongrel feline who also had bilateral renal dysplasia. Dysontogenic metaplasia in cats are scarce and this change may be associated with renal dysplasia and/or lower urinary tract. The animal had history of abdominal enlargement since birth and dysuria, eliminating urine only dropwise. Due to the poor prognosis we opted for euthanasia. At necropsy was observed enlarged and distended bladder, reduced kidneys and dilated and tortuous ureters. The urethra was thickened, hard to cut, and histologically, was replacing the connective tissue, cartilage and endochondral ossification areas, which features dysontogenic metaplasia. Both kidneys presented primitive appearance featuring dysplasia. Dysontogenic metaplasia in urinary tract feline with renal dysplasia, has not been described.
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...
Adamantinoma, osteofibrous dysplasia and differentiated adamantinoma

International Nuclear Information System (INIS)

Kahn, Leonard B.

2003-01-01

For just over 100 years, adamantinoma has been recognized as a primary bone tumor with epithelial characteristics and predominantly involving the tibia. Osteofibrous dysplasia is a fibro-osseous lesion also predominantly confined to the tibia with radiologic features similar to those of adamantinoma. This lesion has been shown by immunohistochemical studies to frequently contain cytokeratin-positive epithelial cells. More recently, a third group of cases with clinical and radiologic features similar to those of osteofibrous dysplasia have demonstrated more overt strands of epithelial cells within a fibro-osseous background and have been categorized as ''differentiated'', ''regressive'', ''juvenile intracortical'' or ''osteofibrous dysplasia-like'' adamantinoma. Cytokeratin subset immunohistochemical stains and cytogenetic studies performed in recent years suggest a common histogenesis for these three entities. This article reviews the clinical, radiologic and pathologic features of these entities as well as their prognostic significance. It also reviews the results of the immunohistochemical and cytogenetic studies which establish a common histogenetic relationship. (orig.)
Variable manifestations of dysplasia epiphysealis hemimelica

Energy Technology Data Exchange (ETDEWEB)

Azouz, E.M.; Slomic, A.M.; Marton, D.; Rigault, P.; Finidori, G.

1985-01-01

Dysplasia epiphysealis hemimelica (DEH) is an osteocartilaginous overgrowth involving one or multiple epiphyses or ossification centers, usually in a lower extremity on one side of the body. Characteristically the involvement is hemimelic, i.e., either the medial or lateral part of the ossification center is involved. The authors have studied 24 patients with DEH and are adding 15 new cases to the literature. Because of the variable manifestations of the dysplasia and its different degrees of involvement in the affected children, they have subdivided it into localized, classical and generalized. In the generalized form, there is involvement of a whole lower extremity from the pelvis to the foot, and some of these patients show megaepiphyses with enlargement of a whole epiphyseal center, not only its medial or lateral part. The authors have also described and illustrated other special features of the dysplasia especially the advanced bone age and the metaphyseal and growth plate involvement.
Congenital axis dysmorphism in a medieval skeleton : …secunda a vertendo epistropheus….

Science.gov (United States)

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.
Fibrous Dysplasia versus Juvenile Ossifying Fibroma: A Dilemma

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Sreelakshmi N. Nair

2016-01-01

Full Text Available Fibrous dysplasia (FD is a condition characterized by excessive proliferation of bone forming mesenchymal cells which can affect one bone (monostotic type or multiple bones (polyostotic type. It is predominantly noticed in adolescents and young adults. Fibrous dysplasia affecting the jaws is an uncommon condition. The most commonly affected facial bone is the maxilla, with facial asymmetry being the chief complaint. The lesion in many instances is confused with ossifying fibroma (OF. Diagnosis of these two lesions has to be done based on clinical, radiographic, and microscopic findings. Here, we present a case of fibrous dysplasia of maxilla in a nine-year-old boy mimicking juvenile ossifying fibroma.

The Possible Relationship Between Mammary Dysplasia and Breast ...

African Journals Online (AJOL)

Aim: There is need to resolve the continuing difficult question regarding the possible relationship between mammary dysplasia and breast cancer. Method: This is a 30-year study of the incidences of both mammary dysplasia and breast cancer occurring among the Igbos, a major ethnic group in Nigeria, West Africa. Results: ...
Subthreshold body dysmorphic disorder in adolescents: Prevalence and impact.

Science.gov (United States)

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.
Ectodermal dysplasia associated with sickle cell disease.

Science.gov (United States)

Volpato, Luiz Evaristo Ricci; Volpato, Maria Carmen Palma Faria; de Carvalhosa, Artur Aburad; Palma, Vinicius Canavarros; Borges, Alvaro Henrique

2014-01-01

Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses.
Ectodermal Dysplasia Associated with Sickle Cell Disease

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Luiz Evaristo Ricci Volpato

2014-01-01

Full Text Available Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses.
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
Cleidocranial dysplasia: a case report

International Nuclear Information System (INIS)

Han, Jin Won

2005-01-01

Cleidocranial dysplasia is a rare, autosomal dominant congenital disorder. A 12-year-old female visited with chief complaint of unerupted permanent teeth. Also her father showed severe class III malocclusion. The extraoral radiography and computed tomography showed delayed closure of the cranial sutures and underdevelopment of maxilla, maxillary sinuses, and frontal sinus. Both clavicles were underdeveloped and thoracic rib cage was bell-shaped. Both zygomatic process appeared as hypoplastic feature. There were many unerupted permanent and supernumerary teeth in the maxilla and mandible. We examined location and number of the unerupted teeth using 3D CT. Finally we could conclude this case was cleidocranial dysplasia based on the clinico-radiologic findings.
Managing Children with Bronchopulmonary Dysplasia

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A. A. Baranov

2016-01-01

Full Text Available Bronchopulmonary dysplasia is one of the most significant early childhood chronic respiratory diseases. The article features modern approaches to preventing, diagnosing and treating broncho-pulmonary dysplasia, as well as ways of preventing complications and undesirable disease outcomes in patients older than 3 years. Members of professional associations — Union of Pediatricians of Russia and Russian Association of Perinatal Medicine Specialists — have summarized the experience of managing this category of patients at leading Russian pediatric centers according to the principles of evidence-based medicine and have provided scientific and practical data corresponding to the world level of knowledge with regard to the present problem.
Sponastrime dysplasia. A radiologic-pathologic correlation

Energy Technology Data Exchange (ETDEWEB)

Lachman, R S; Stoss, H; Spranger, J

1989-07-01

The 2nd family with Sponastrime Dysplasia is described. The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an 'oriental look' with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). The morphological findings suggest a disturbance in the formation of cartilage, with a defect in collagen and proteoglycans synthesis in this rare autosomal recessive skeletal dysplasia. (orig.).
Sponastrime dysplasia. A radiologic-pathologic correlation

Energy Technology Data Exchange (ETDEWEB)

Lachman, R.S.; Stoss, H.; Spranger, J.

1989-07-01

The 2nd family with Sponastrime Dysplasia is described. The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an 'oriental look' with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). The morphological findings suggest a disturbance in the formation of cartilage, with a defect in collagen and proteoglycans synthesis in this rare autosomal recessive skeletal dysplasia. (orig.).
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.

Science.gov (United States)

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.
Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement

International Nuclear Information System (INIS)

Karam, Adib R.; Birjawi, Ghina A.; Khoury, Nabil J.; Saghieh, Said; Tawil, Ayman

2008-01-01

Dysplasia epiphysealis hemimelica (or Trevor's disease) is a rare developmental bone dysplasia characterized by benign osteocartilaginous overgrowth involving one or multiple epiphyses, usually of a single lower extremity. It is classified as localized form, classical form (most common), and generalized form. In this report we describe a case of generalized form of dysplasia epiphysealis hemimelica with involvement of the contralateral sacroiliac joint, which is an extremely rare presentation. (orig.)
Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement

Energy Technology Data Exchange (ETDEWEB)

Karam, Adib R.; Birjawi, Ghina A.; Khoury, Nabil J. [American University of Beirut Medical Center, Department of Diagnostic Radiology, Beirut (Lebanon); Saghieh, Said [American University of Beirut Medical Center, Department of Orthopedic Surgery, Beirut (Lebanon); Tawil, Ayman [American University of Beirut Medical Center, Department of Pathology, Beirut (Lebanon)

2008-12-15

Dysplasia epiphysealis hemimelica (or Trevor's disease) is a rare developmental bone dysplasia characterized by benign osteocartilaginous overgrowth involving one or multiple epiphyses, usually of a single lower extremity. It is classified as localized form, classical form (most common), and generalized form. In this report we describe a case of generalized form of dysplasia epiphysealis hemimelica with involvement of the contralateral sacroiliac joint, which is an extremely rare presentation. (orig.)
Inclination and anteversion of Collum femoris in hip dysplasia and coxarthritis

Energy Technology Data Exchange (ETDEWEB)

Madsen, J. S.; Svalastoga, E. [Kongelige Veterinaer- og Landbohoejskole, Copenhagen (Denmark)

1994-07-01

Femoral neck angles were measured radiographically in 41 dogs examined for hip dysplasia. Steep femoral neck inclination was found to be a phenomenon of hip dysplasia and coxofemoral joint laxity. The altered biomechanics of a steep femoral neck inclination may be a factor in the pathogenesis of hip dysplasia and secondary osteoarthritis.
Clinical Application of a Behavioral Model for the Treatment of Body Dysmorphic Disorder

Science.gov (United States)

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…
Assessment of adult hip dysplasia and the outcome of surgical treatment

DEFF Research Database (Denmark)

Troelsen, Anders

2012-01-01

Hip dysplasia and hip joint deformities in general are recognized as possible precursors of osteoarthritic development. Early and correct identification of hip dysplasia is important in order to offer timely joint preserving treatment. In the contemporary literature, several controversies exist......, and some of these were the focus of this doctoral thesis. Categorized into subjects, the major findings and their possible importance are listed below. DIAGNOSTIC ASSESSMENT OF HIP DYSPLASIA: A multi-observer study quantified the variability of different methods for diagnostic assessment of hip dysplasia...... and osteoarthritis and resulted in general recommendations regarding diagnostic assessment of hip dysplasia. Pelvic tilt was shown to differ significantly between the supine and weight-bearing positions in patients with dysplastic hip joints. This is a finding that adds controversy to the application of neutral...
Focal cemento-osseous dysplasia masquerading as a residual cyst.

Science.gov (United States)

Bhandari, Rajat; Sandhu, Simarpreet V; Bansal, Himanta; Behl, Rashi; Bhullar, Ramanpreet Kaur

2012-04-01

Focal cemento-osseous dysplasia (FCOD) is a benign fibroosseous condition that can be seen in dentulous and edentulous patients. It is an asymptomatic lesion and needs no treatment; however, follow-up is essential due to the possibility that it can progress to a condition called florid cemento-osseous dysplasia. We report a case of FCOD of mandible in a 25-year-old female. Clinically, the lesion resembled periapical pathosis of odontogenic origin. An attempt has been made to discuss the clinical and histopathologic features along with differential diagnosis of cemento-osseous dysplasia.
Focal cemento-osseous dysplasia masquerading as a residual cyst

Directory of Open Access Journals (Sweden)

Rajat Bhandari

2012-01-01

Full Text Available Focal cemento-osseous dysplasia (FCOD is a benign fibroosseous condition that can be seen in dentulous and edentulous patients. It is an asymptomatic lesion and needs no treatment; however, follow-up is essential due to the possibility that it can progress to a condition called florid cemento-osseous dysplasia. We report a case of FCOD of mandible in a 25-year-old female. Clinically, the lesion resembled periapical pathosis of odontogenic origin. An attempt has been made to discuss the clinical and histopathologic features along with differential diagnosis of cemento-osseous dysplasia.
A new type of spondylo-metaphyseal dysplasia - Algerian type

International Nuclear Information System (INIS)

Kozlowski, K.; Bacha, L.; Massen, R.; Ayati, M.; Sator, S.; Brahimi, L.

1988-01-01

A new, dominantly inherited, severe form of spondylometaphyseal dysplasia in five members of an Algerian family is reported. Another child, not investigated, was also probably affected. The disease is characterised by a unique clinical and radiological set of features: dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet. In view of the geographical localisation of the disorder and the anatomical distribution we propose the name Algerian type of spondylo-metaphyseal dysplasia. (orig.)
Familial florid Cemento-osseous dysplasia - case report and review of literature.

Science.gov (United States)

Thorawat, Amit; Kalkur, Chaitra; Naikmasur, Venkatesh G; Tarakji, Bassel

2015-12-01

Familial Florid cemento-osseous dysplasia is a very uncommon condition. Cemento-osseous dysplasia is totally asymptomatic in many cases, in those conditions, lesions are detected in a radiograph taken for other purposes. In this report, we describe a family in which mother and daughter exhibited clinical, radiographic, and histologic features of florid cemento-osseous dysplasia.

Is There a Relationship between Ovarian Epithelial Dysplasia and Infertility?

Directory of Open Access Journals (Sweden)

Gautier Chene

2012-01-01

Full Text Available Aim. Ovarian epithelial dysplasia was initially described in material from prophylactic oophorectomies performed in patients at genetic risk of ovarian cancer. Similar histopathological abnormalities have been revealed after ovulation stimulation. Since infertility is also a risk factor for ovarian neoplasia, the aim of this study was to study the relationship between infertility and ovarian dysplasia. Methods. We blindly reviewed 127 histopathological slides of adnexectomies or ovarian cystectomies according to three groups—an exposed group to ovulation induction (n = 30, an infertile group without stimulation (n = 35, and a spontaneously fertile control group (n = 62—in order to design an eleven histopathological criteria scoring system. Results. The ovarian dysplasia score was significantly higher in exposed group whereas dysplasia score was low in infertile and control groups (resp., 8.21 in exposed group, 3.69 for infertile patients, and 3.62 for the controls. In the subgroup with refractory infertility there was a trend towards a more severe dysplasia score (8.53 in ovulation induction group and 5.1 in infertile group. Conclusion. These results raise questions as to the responsibility of drugs used to induce ovulation and/or infertility itself in the genesis of ovarian epithelial dysplasia.
Assessment of hip dysplasia and osteoarthritis: Variability of different methods

International Nuclear Information System (INIS)

Troelsen, Anders; Elmengaard, Brian; Soeballe, Kjeld; Roemer, Lone; Kring, Soeren

2010-01-01

Background: Reliable assessment of hip dysplasia and osteoarthritis is crucial in young adults who may benefit from joint-preserving surgery. Purpose: To investigate the variability of different methods for diagnostic assessment of hip dysplasia and osteoarthritis. Material and Methods: By each of four observers, two assessments were done by vision and two by angle construction. For both methods, the intra- and interobserver variability of center-edge and acetabular index angle assessment were analyzed. The observers' ability to diagnose hip dysplasia and osteoarthritis were assessed. All measures were compared to those made on computed tomography scan. Results: Intra- and interobserver variability of angle assessment was less when angles were drawn compared with assessment by vision, and the observers' ability to diagnose hip dysplasia improved when angles were drawn. Assessment of osteoarthritis in general showed poor agreement with findings on computed tomography scan. Conclusion: We recommend that angles always should be drawn for assessment of hip dysplasia on pelvic radiographs. Given the inherent variability of diagnostic assessment of hip dysplasia, a computed tomography scan could be considered in patients with relevant hip symptoms and a center-edge angle between 20 deg and 30 deg. Osteoarthritis should be assessed by measuring the joint space width or by classifying the Toennis grade as either 0-1 or 2-3
Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy

NARCIS (Netherlands)

Sousa, Sérgio B.; Russell-Eggitt, Isabelle; Hall, Christine; Hall, Bryan D.; Hennekam, Raoul C. M.

2008-01-01

There are several entities that combine a skeletal dysplasia with a retinal dystrophy. Recently, another possibly autosomal recessive entity was added to this group characterized by a specific spondylometaphyseal dysplasia and a cone-rod dystrophy, without other significant impairments. The entity
Management of high-grade dysplasia in Barrett's esophagus.

Science.gov (United States)

Palley, S L; Sampliner, R E; Garewal, H S

1989-08-01

When Barrett's esophagus is complicated by adenocarcinoma, surgery is indicated in appropriate patients. Until now, high-grade dysplasia in Barrett's esophagus has been managed in a similar fashion. We explore this approach and review reported cases of high-grade dysplasia to suggest guidelines for collection of data to make future clinical decisions more rational.
Occipital projections in the skeletal dysplasias

International Nuclear Information System (INIS)

Takamine, Yuji; Field, Fiona M.; Lachman, Ralph S.; Rimoin, David L.

2004-01-01

Occipital projections of the cranium have been reported in a number of skeletal dysplasias and syndromes. We observed two cases of atelosteogenesis type I with a bony occipital projection. This finding has neither been noted nor reported in any form of atelosteogenesis. This led us to search the International Skeletal Dysplasia Registry for occipital projections, and we found them in four other syndromes in which they had not been reported. Thus occipital spurs are a non-diagnostic feature that can be found in at least ten distinct disorders as well as a normal variant. (orig.)
Canine hip dysplasia: significance of early bony spurring

International Nuclear Information System (INIS)

Morgan, J.P.

1987-01-01

It is the purpose of this study to call attention to new bone production that often occurs early in the sequence of pathological changes associated with canine hip dysplasia. New bone production extending to bony remodeling, as well as femoral head subluxation, both occur in the sequence of pathologic changes associated with canine hip dysplasia. Subluxation is considered primary, while osteoarthrosis is a secondary feature, and both are used in the diagnosis of canine hip dysplasia. This report concerns the significance of the presence of a solitary bony osteophyte, or spur, that is frequently evident on the caudal aspect of the femoral neck as viewed on the conventional ventrodorsal projection. This report utilizes findings from pelvic radiographs of 605 dogs (five breeds). There was a greater frequency (54%)of this bony change in cases diagnosed radiographically as dysplastic than in cases diagnosed as normal(15%).Thus, it is suggested that this minimal radiographic change can be used as an indicator of early canine hip dysplasia, especially in the absence of subluxation of the femoral head
Oculoauriculovertebral dysplasia (Goldenhar's syndrome).

Science.gov (United States)

Nkrumah, F K

1971-03-01

A case of Goldenhar's Syndrome or Oculoauriculovertebral dysplasia in a Ghanaian infant is described. Significant were the additional findings of congenital esophageal atresia and arthrogryposis which have so far not been reported in association with the syndrome.
The patellofemoral joint: from dysplasia to dislocation

Science.gov (United States)

Zaffagnini, Stefano; Grassi, Alberto; Zocco, Gianluca; Rosa, Michele Attilo; Signorelli, Cecilia; Muccioli, Giulio Maria Marcheggiani

2017-01-01

Patellofemoral dysplasia is a major predisposing factor for instability of the patellofemoral joint. However, there is no consensus as to whether patellofemoral dysplasia is genetic in origin, caused by imbalanced forces producing maltracking and remodelling of the trochlea during infancy and growth, or due to other unknown and unexplored factors. The biomechanical effects of patellofemoral dysplasia on patellar stability and on surgical procedures have not been fully investigated. Also, different anatomical and demographic risk factors have been suggested, in an attempt to identify the recurrent dislocators. Therefore, a comprehensive evaluation of all the radiographic, MRI and CT parameters can help the clinician to assess patients with primary and recurrent patellar dislocation and guide management. Patellofemoral dysplasia still represents an extremely challenging condition to manage. Its controversial aetiology and its complex biomechanical behaviour continue to pose more questions than answers to the research community, which reflects the lack of universally accepted guidelines for the correct treatment. However, due to the complexity of this condition, an extremely personalised approach should be reserved for each patient, in considering and addressing the anatomical abnormalities responsible for the symptoms. Cite this article: EFORT Open Rev 2017;2. DOI: 10.1302/2058-5241.2.160081. Originally published online at www.efortopenreviews.org PMID:28630757
The Relationship between Body Dysmorphic Disorder Behaviors and the Acquired Capability for Suicide

Science.gov (United States)

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…
Renal dysplasia in a Rhodesian Ridgeback dog

International Nuclear Information System (INIS)

Lobetti, R.G.; Pearson, J.; Jimenez, M.

1996-01-01

A six-month-old Rhodesian ridgeback dog was presented for evaluation of facial swelling. Chronic renal failure was clinically diagnosed based on urinalysis, biochemical changes and ultrasonography. The facial swelling was due to fibrous osteodystrophy, which was evident on survey radiographs of the skull. On post mortem examination, chronic renal failure as a result of renal dysplasia was confirmed. This is the first reported case of renal dysplasia in this breed of dog
Cemento-osseous dysplasia in Jamaica: review of six cases.

Science.gov (United States)

Ogunsalu, C; Miles, D

2005-09-01

Six cases of cemento-osseous dysplasia (COD) of the jaw bone in Jamaicans are reviewed. Five were documented over a 15-year period (1980-1995). These include a case of florid cemento-osseous dysplasia (previously called gigantiform cementoma). Three of the initial cases were histologically diagnosed as gigantiform cementoma. There was no indication in the patient's case file whether these were familial or non-familial. The other two cases were diagnosed histologically as periapical cemento-osseous dysplasia and cementoblastoma respectively. Based on the current understanding of the nature of florid-cemento-osseous dysplasia (FLCOD), a new case was diagnosed as such solely on radiological findings. This single case of FLCOD is reported and discussed against the background of other cemento-osseous lesions. Special emphasis is placed on the radiology of COD in this paper. The confirmative role of radiology without the need for histophathology and treatment for asymptomatic FLCOD is emphasized.
A new syndrome of 'spondylo-epi-metaphyseal dysplasia: mixed type''

International Nuclear Information System (INIS)

Sharma, B.G.

2003-01-01

A new type of rare bone dysplasia is described, which shares some common features with spondylo-meta-epiphyseal dysplasia: short limb-abnormal calcification type and lethal metatropic dysplasia. Besides these features, the present case has some additional unusual features. Facial malformation was very obvious and of a different type. The nose and nares were completely flattened. Hypertrophied acetabular bones, round densities on the ilia, premature ossification of many epiphyses and carpal bones, curvilinear calcifications in some joints, fusion of the ischiopubic rami, calcification of many costal cartilages and thick sclerotic base of the skull were a few of the significant findings. On the basis of the clinical and radiological features, the condition has been named ''spondylo-epi-metaphyseal dysplasia: mixed type''. (orig.)
Radiographic Differential Diagnosis Between The Fibrous Dysplasia And The Ossifying Fibroma

Energy Technology Data Exchange (ETDEWEB)

Choi, Karp Shik [Dept. of Dental Radiology, College of Dentistry, Kyungpook National University, Daegu (Korea, Republic of)

1999-02-15

The author observed and compared the radiographic features of 49 cases of the fibrous dysplasia and 14 cases of the ossifying fibroma in the osteoblastic or mature stage radiologically and histopathologically. The obtained results were as follows: 1. Fibrous dysplasia occurred most frequently in the 2nd decade, but ossifying fibroma in the 3rd and 4th decades, and both lesions occurred with slight predilection in females. 2. In most cases, chief complaints were painless facial swelling. And 61.1% of fibrous dysplasia occurred in the maxilla, 92.9% of ossifying fibroma in the mandible, and most of these lesions occurred in the premolar-molar region. 3. In the mandibular lesions, ossifying fibroma was shown more oval and round shape, but fibrous dysplasia was shown fusiform shape. 4. Fibrous dysplasia was shown homogeneously distributed, complete radiopaque shadow at 63%, and ossifying fibroma was shown concentric, mixed appearance of radiolucent and radiopaque shadow at 92.9%. 5. Fibrous dysplasia was entirely shown poorly outlined and blended to normal surrounding bone, but ossifying fibroma was shown well-defined border. 6. Cortical thinning and expansion were observed in these lesions, but degree of cortical expansion was more severe in ossifying fibroma than fibrous dysplasia. 7. Loss of lamina dura, tooth displacement, and displacement of mandibular canal were observed in both lesions, but root resorption was observed in ossifying fibroma only.
Influence of hip dysplasia on the development of osteoarthritis of the hip

NARCIS (Netherlands)

A.M. Lievense (Annet); S.M. Bierma-Zeinstra (Sita); A.P. Verhagen (Arianne); J.A.N. Verhaar (Jan); B.W. Koes (Bart)

2004-01-01

textabstractBackground: It has been suggested that in some patients with primary hip osteoarthritis (OA), the disease occurs as a consequence of acetabular dysplasia or hip dysplasia (HD). Objective: To carry out a systematic review to investigate the association between acetabular dysplasia and hip
Radiological features of bilateral hereditary micro-epiphyseal dysplasia - a distinct entity in the skeletal dysplasias

Energy Technology Data Exchange (ETDEWEB)

Mostert, A.K. [Isala Clinics, Location Weezenlanden, Dept. of Orthopaedic Surgery, Zwolle (Netherlands); Dijkstra, P.F. [Jan van Breemen Inst., Dept. of Radiology, Amsterdam (Netherlands); Horn, J.R. van [Univ. Hospital Groningen, Dept. of Orthopaedic Surgery, Groningen (Netherlands); Jansen, B.R.H. [Reinier de Graaf Hospital, Dept. of Orthopaedic Surgery, Delft (Netherlands); Heutink, P. [Erasmus MCRotterdam, Dept. of Clinical Genetics, Rotterdam (Netherlands); Lindhout, D. [Univ. Medical Centre Utrecht, Dept. of Medical Genetics, Utrecht (Netherlands)

2002-07-01

Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959, is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED). Material and Methods: We used the data of the revised pedigree with 84 family members, performed a medical history, physical examination and made a radiological evaluation for defining a clinical and radiological phenotype of BHMED family members. We used blood samples for genetic analysis. Results: Although there is a clear clinical picture of the dysplasia, the radiological signs are more reliable for making the diagnosis. Especially the typical deformity of the hip and knee joint are diagnostic for BHMED. By linkage analysis we excluded linkage with the three known MED-loci (EDM1, EDM2 and EDM3). Conclusion: BHMED is indeed an entity that is distinct from common multiple epiphyseal dysplasia (MED), clinically, as well as radiologically and genetically. (orig.) [German] Ziel: Es sollte dargelegt werden, dass sich eine vererbliche, laterale Mikro-Epiphysendysplasie (BHMED), Erstbeschreibung durch Elsbach 1959, klinisch, radiologisch und genetisch von einer mutiplen Epiphysendysplasie (MED) unterscheidet. Material und Methode: Anhand der Daten eines ueberarbeiteten Stammbaumes mit 84 Familienmitgliedern wurde der medizinische Werdegang rekonstruiert. Es erfolgte eine physische Untersuchung der Familienmitglieder. Schliesslich wurde eine radiologische Auswertung durchgefuehrt, um einen klinischen und radiologischen Phaenotyp der von BHMED betroffenen Familienmitglieder zu definieren. Fuer eine genetische Analyse wurden Blutproben entnommen. Ergebnisse: Obwohl es ein deutliches klinisches Bild einer Dysplasie gibt, sind die radiologischen Kennzeichen fuer die Diagnose zuverlaessiger. Insbesondere die typische Deformation der Huefte und des Kniegelenks ist diagnostisch fuer BHMED. Durch Linkage-Analyse konnte eine Verbindung zu den drei bekannten
Assessment of hip dysplasia and osteoarthritis: Variability of different methods

Energy Technology Data Exchange (ETDEWEB)

Troelsen, Anders; Elmengaard, Brian; Soeballe, Kjeld (Orthopedic Research Unit, Univ. Hospital of Aarhus, Aarhus (Denmark)), e-mail: a_troelsen@hotmail.com; Roemer, Lone (Dept. of Radiology, Univ. Hospital of Aarhus, Aarhus (Denmark)); Kring, Soeren (Dept. of Orthopedic Surgery, Aabenraa Hospital, Aabenraa (Denmark))

2010-03-15

Background: Reliable assessment of hip dysplasia and osteoarthritis is crucial in young adults who may benefit from joint-preserving surgery. Purpose: To investigate the variability of different methods for diagnostic assessment of hip dysplasia and osteoarthritis. Material and Methods: By each of four observers, two assessments were done by vision and two by angle construction. For both methods, the intra- and interobserver variability of center-edge and acetabular index angle assessment were analyzed. The observers' ability to diagnose hip dysplasia and osteoarthritis were assessed. All measures were compared to those made on computed tomography scan. Results: Intra- and interobserver variability of angle assessment was less when angles were drawn compared with assessment by vision, and the observers' ability to diagnose hip dysplasia improved when angles were drawn. Assessment of osteoarthritis in general showed poor agreement with findings on computed tomography scan. Conclusion: We recommend that angles always should be drawn for assessment of hip dysplasia on pelvic radiographs. Given the inherent variability of diagnostic assessment of hip dysplasia, a computed tomography scan could be considered in patients with relevant hip symptoms and a center-edge angle between 20 deg and 30 deg. Osteoarthritis should be assessed by measuring the joint space width or by classifying the Toennis grade as either 0-1 or 2-3
Hypohidrotic ectodermal dysplasia: a clinical case with a longitudinal approach.

Science.gov (United States)

Fraiz, Fabian Calixto; Gugisch, Renato Cordeiro; Cavalcante-Leão, Bianca Lopes; Macedo, Liliane Moreira

2014-11-01

This paper describes a clinical case of a male with hypohidrotic ectodermal dysplasia submitted to rehabilitation and occlusal dental interventions with follow-up from 3 to 14 years of age. Due to the severe effects on function and esthetics, the clinical manifestations of ectodermal dysplasia exert a negative impact on quality of life. However, oral rehabilitation in childhood poses a challenge due to growth and development. A male with hypohidrotic ectodermal dysplasia began dental intervention at the age of 3 years. The clinical and radiographic exams revealed the absence of several primary and permanent teeth and abnormal shape of the primary maxillary incisors. The facial characteristics were compatible with hypohidrotic ectodermal dysplasia, such as a prominent brow, everted lips, fattened bridge of the nose and small vertical facial height. The treatment proposed involved rehabilitation through successive temporary partial dentures, functional orthopedics of the jaws, esthetic reconstruction of the anterior teeth, timely occlusal intervention and preventive actions for the control of dental caries and plaque. The present case demonstrates that early care plays a fundamental role in minimizing the biopsychosocial consequences of hypohidrotic ectodermal dysplasia and preparing the patient for future oral rehabilitation. Although, the literature offers a number of papers describing dental treatment for ectodermal dysplasia, few cases include long-term follow-up and the use of a functional orthopedic appliance in combination with removable dentures in such patients.
Dysplasia epiphysealis hemimelica of the tibial tubercle

Energy Technology Data Exchange (ETDEWEB)

Thacker, M.M.; Scully, S.P.; Pitcher, J.D.; Temple, H. Thomas [University of Miami, Department of Orthopedics and Rehabilitation, FL (United States); Azouz, E.M. [University of Miami, Department of Radiology, FL (United States)

2006-03-15

Dysplasia epiphysealis hemimelica (DEH) is a rare skeletal dysplasia with epiphyseal involvement first described by Mouchet and Belot in 1926. Lower extremity involvement is common and might involve a single or multiple epiphyses in the affected extremity. We report an unusual case of involvement of the tibial tubercle in a girl aged 4 years 8 months, and we present the clinical, radiographic and pathologic findings. We discuss the role of MRI in the diagnosis and treatment plan. (orig.)
Hypohidrotic ectodermal dysplasia: a felicitous approach to esthetic and prosthetic management.

Science.gov (United States)

Singh, Tapan; Singh, Ronauk; Singh, Gurendra Pal; Singh, Jitender Pal

2013-05-01

Ectodermal dysplasia is a hereditary disease characterized by congenital dysplasia of one or more ectodermal structure and other accessory appendages. The oral manifestations are anodontia and poor bony foundation which impairs both esthetic as well as the masticatory function. The prosthodontic management of patients with such dysplastic condition necessitates a multidisciplinary approach. This case report describes the prosthodontic oral rehabilitation of a 16 years old female pediatric patient with ectodermal dysplasia. How to cite this article: Singh T, Singh R, Singh GP, Singh JP. Hypohidrotic Ectodermal Dysplasia: A Felicitous Approach to Esthetic and Prosthetic Management. Int J Clin Pediatr Dent 2013;6(2):140-145.
Polypoidal Intestinal Metaplasia and Dysplasia of the External Urethral Meatus

Directory of Open Access Journals (Sweden)

Mary Mathew

2012-01-01

Full Text Available Urethral mucosa with intestinal metaplasia and dysplasia is a rare occurrence. To date only a single case has been reported in a male with long-standing urethral stricture. We present a 33-year-old female with polypoid intestinal metaplasia and dysplasia of the external urethral meatus in the absence of an inciting factor. Intestinal metaplasia of the urethral mucosa may undergo dysplasia, emphasizing the necessity of a high degree of clinical suspicion and vigilant pathological examination of these lesions.

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

Science.gov (United States)

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.
Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation.

Science.gov (United States)

Krøigård, Anne Bruun; Clemmensen, Ole; Gjørup, Hans; Hertz, Jens Michael; Bygum, Anette

2016-03-10

Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles. The ectodermal dysplasias resulting from biallelic mutations in the WNT10A gene result in highly variable phenotypes, ranging from isolated tooth agenesis to OODD and Schöpf-Schulz-Passarge syndrome (SSPS). We identified a female patient, with consanguineous parents, who was clinically diagnosed with OODD. Genetic testing showed that she was homozygous for a previously reported pathogenic mutation in the WNT10A gene, c.321C > A, p.Cys107*. The skin and nail abnormalities were for many years interpreted as psoriasis and treated accordingly. A thorough clinical examination revealed hypotrichosis and hyperhidrosis of the soles and dental examination revealed agenesis of permanent teeth except the two maxillary central incisors. Skin biopsies from the hyperkeratotic palms and soles showed the characteristic changes of eccrine syringofibroadenomatosis, which has been described in patients with ectodermal dysplasias. Together with a family history of tooth anomalies, this lead to the clinical suspicion of a hereditary ectodermal dysplasia. This case illustrates the challenges of diagnosing ectodermal dysplasia like OODD and highlights the relevance of interdisciplinary cooperation in the diagnosis of rare conditions.
Fibrous dysplasia with cartilaginous differentiation (''fibrocartilaginous dysplasia''): a review, with an illustrative case followed for 18 years

Energy Technology Data Exchange (ETDEWEB)

Kyriakos, Michael [Division of Surgical Pathology, Washington University School of Medicine, St. Louis, Missouri (United States); Department of Pathology, Washington University School of Medicine, 660 S. Euclid Avenue, Campus Box 8118, MO 63110, St. Louis (United States); McDonald, Douglas J. [Department of Orthopaedic Surgery, Washington University School of Medicine, St. Louis, Missouri (United States); Sundaram, Murali [Department of Radiology, The Mayo Clinic, Rochester, Minnesota (United States)

2004-01-01

A 21-year-old man with an 18-year history of progressive, and deforming, monomelic fibrous dysplasia with massive cartilaginous differentiation (fibrocartilaginous dysplasia) is described. A review is made of all prior reported examples of this entity in the English language medical literature. The radiologic and histologic differential diagnoses are described, distinguishing the lesion from chondrosarcoma and from fibrocartilaginous mesenchymoma. (orig.)
Pathophysiology, diagnosis, and treatment of canine hip dysplasia

International Nuclear Information System (INIS)

Cook, J.L.; Tomlinson, J.L.; Constantinescu, G.M.

1996-01-01

Dogs with hip dysplasia are commonly presented to veterinarians for evaluation. Although many causes of the condition have been proposed, a definitive cause has not been established. The multifactorial nature of canine hip dysplasia can confuse client education and management ofthe disease. The basic concept involved is the biomechanical imbalance between the forces on the coxofemoral joint and the associated muscle mass; the result is joint laxity in young, growing dogs. This laxity leads to incongruity; the eventual result is degenerative joint disease. Canine hip dysplasia can affect any breed but is most often reported in large and giant breeds. Understanding the pathophysiology and biomechanics involved with this developmental disease is important in providing clients with diagnostic, therapeutic, and prognostic information. The selection of treatment is influenced by the following factors:the age, health, and intended use of the patient; clinical signs; diagnostic findings; the availability of treatment; and the financial constraints of the owner. This article discusses the current concepts concerning the pathophysiology and biomechanics of canine hip dysplasia and outlines diagnostic and therapeutic options. The objective of the article is to provide practitioners with a reference for decision making and client education
Cleidocranial dysplasia: a case report

International Nuclear Information System (INIS)

Kim, Jae Duk; Lee, Chang Yul; You, Choong Hyun

2004-01-01

Cleidocranial dysplasia is a rare and autosomal dominant disorder characterized by aplasia or hypoplasia of the clavicles, an open fontanelle, dental abnormalities, and short stature. A 17-year-old female who presented with short stature and subsequent delay in eruption of permanent teeth is described. she showed the abnormal hypermobility of the shoulder, ocular hypertelorism and concave nasal bridge. Radiographs revealed the underdeveloped maxilla, defect of the cranium in the fontanelle region, and aplasia of the clavicles. Characteristically, panoramic view revealed near parallel-sided borders of the ascending ramus and downward curvature of the zygomatic arch with hypoplasia. The prolonged retention of deciduous teeth with delayed eruption of permanent teeth and multiple embedded supernumerary teeth were striking. Radiographic and clinical investigations revealed Cleidocranial dysplasia.
Localised form of spondylo-epiphyseal dysplasia congenita

International Nuclear Information System (INIS)

Hoeffel, J.C.; Mohy, R.; Collignon, P.; Moog, G.

1988-01-01

We report an unusual case of spondylo-epiphyseal dysplasia congenita which affected only the hips and the thoraco-lumbar spine. The epiphysis of the long bones are normal apart from the hips. Our child has a bilateral epiphyseal dysplasia of both proximal femoral epiphysis discovered incidentally at 11 months and confirmed later on at 8 years, associated with abnormalities of the superior margin of the vertebral bodies from T11 to L2. Very few similar cases have been reported anteriorly. (orig.) [de
Cleidocranial dysplasia: Report of 4 cases and review

Directory of Open Access Journals (Sweden)

Virender Gombra

2008-01-01

Full Text Available Patients with cleidocranial dysplasia commonly present with significant dental problems such as retention of multiple deciduous teeth, impaction or delay in eruption of permanent teeth and often, the presence of supernumerary teeth. We report 4 cases of 2 families presenting with cleidocranial dysplasia disorder with their clinical and radiological diagnosis and illustrating its pathogenesis and various treatment modalities, review of literatures.
Marfan syndrome with multiseptate pneumothorax and mandibular fibrous dysplasia

Directory of Open Access Journals (Sweden)

Kate A

2009-01-01

Full Text Available We describe a rare case of pneumothorax due to Marfan syndrome associated with fibrous dysplasia of the mandible. Marfan syndrome and fibrous dysplasia were possibly due to a common etiological factor. The association between the two and other tumors described in literature related to Marfan syndrome is discussed.
Retinal tear presenting in a patient with ectrodactyly ectodermal dysplasia.

Science.gov (United States)

Grogg, Jane Ann; Port, Nicholas; Graham, Trevor

2014-04-01

This article aims to report a case of known ectrodactyly ectodermal dysplasia in a young male patient who subsequently was found to have a retinal tear and localized retinal detachment. This is a case report of a 22-year-old white male patient with a history of ectrodactyly ectodermal dysplasia. Our patient initially presented with an acute exacerbation of bilateral, red, irritated eyes. No recent changes in vision were reported. The patient's ocular surface disease was consistent with ectrodermal dysplasia syndrome. However, a dilated fundus examination revealed an asymptomatic retinal tear with a surrounding localized retinal detachment. In this case, the patient presented with longstanding ocular surface disease known to be associated with this patient's inherited ectoderm disorder. In addition, this patient revealed a retinal tear, raising the possibility that patients with inherited congenital ectodermal dysplasia could be at risk for damaged structures originating from the neural ectoderm. In this heterogeneous disease, we are contributing to the existing literature a case of ectodermal dysplasia syndrome with obvious ectodermal complications that also had retinal findings leading us to speculate question if neural ectoderm could also be involved in this inherited disease.
Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations.

Science.gov (United States)

Kantaputra, P; Kaewgahya, M; Jotikasthira, D; Kantaputra, W

2014-04-01

We report on three novel (IVS2+1G>A splice site, c.1066G>T, and c.1039G>T, and one previously reported (c.637G>A) WNT10A mutations in three patients affected with odonto-onycho-dermal dysplasia (OODD; OMIM 275980). OODD is a rare form of autosomal recessive ectodermal dysplasia involving hair, teeth, nails, and skin, characterized by hypodontia (tooth agenesis), smooth tongue with marked reduction of filiform and fungiform papillae, nail dysplasia, dry skin, palmoplantar keratoderma, and hyperhidrosis of palms and soles. The novel IVS+1G>A splice site mutation is predicted to cause significant protein alteration. The other novel mutations we found including c.1066G>T and c.1039G>T are predicted to cause p.Gly356Cys and p.Glu347X, respectively. Barrel-shaped mandibular incisors and severe hypodontia appear to be associated with homozygous or compound heterozygous mutations of WNT10A. The name "tricho-odonto-onycho-dermal dysplasia" is suggested to replace "odonto-onycho-dermal dysplasia" because hair anomalies including hypotrichosis and slow-growing hair have been reported in numerous reported patients with this syndrome. © 2014 Wiley Periodicals, Inc.
Polyostotic Fibrous Dysplasia of Cranio-Maxillofacial Area

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Han, Jin Woo; Kwon, Hyuk Rok; Lee, Jin Ho; Park, In Woo [Dept. of Oral and Maxillofacial Radiology, College of Dentistry, Kangnung National University, Kangnung (Korea, Republic of)

2000-06-15

Fibrous dysplasia is believed to be a hamartomatous developmental lesion of unknown origin. This disease is divided into monostotic and polyostotic fibrous dysplasia. Polyostotic type can be divided into craniofacial type, Lichtenstein-Jaffe type, and McCune-Albright syndrome. In this case, a 31-year-old female presented spontaneous loss of right mandibular teeth before 5 years and has shown continuous expansion of right mandibular alveolus. Through the radiographic view, the coarse pattern of the mixed radiopaque-lucent lesion was seen on the right mandibular body, and there was diffuse pattern of the mixed radiopaque-lucent lesion with ill-defined margin in the left mandibular body. In the right calvarium, the lesion had cotton-wool appearance. Partial excision for contouring, multiple extraction, and alveoloplasty were accomplished under general anesthesia for supportive treatment. Finally we could conclude this case was polyostotic fibrous dysplasia of cranio-maxillofacial area based on the clinical, radiologic finding, and histopathologic examination.
Polyostotic Fibrous Dysplasia of Cranio-Maxillofacial Area

International Nuclear Information System (INIS)

Han, Jin Woo; Kwon, Hyuk Rok; Lee, Jin Ho; Park, In Woo

2000-01-01

Fibrous dysplasia is believed to be a hamartomatous developmental lesion of unknown origin. This disease is divided into monostotic and polyostotic fibrous dysplasia. Polyostotic type can be divided into craniofacial type, Lichtenstein-Jaffe type, and McCune-Albright syndrome. In this case, a 31-year-old female presented spontaneous loss of right mandibular teeth before 5 years and has shown continuous expansion of right mandibular alveolus. Through the radiographic view, the coarse pattern of the mixed radiopaque-lucent lesion was seen on the right mandibular body, and there was diffuse pattern of the mixed radiopaque-lucent lesion with ill-defined margin in the left mandibular body. In the right calvarium, the lesion had cotton-wool appearance. Partial excision for contouring, multiple extraction, and alveoloplasty were accomplished under general anesthesia for supportive treatment. Finally we could conclude this case was polyostotic fibrous dysplasia of cranio-maxillofacial area based on the clinical, radiologic finding, and histopathologic examination.
A case report of arrhythmogenic right ventricular dysplasia

Directory of Open Access Journals (Sweden)

Henry Anselmo Mayala

2013-01-01

Full Text Available Background Arrhythmogenic right ventricular dysplasia is an autosomal dominant disorder affecting parts of myocardium known as desmosomes, areas on the surface of heart muscle cells which link the cells together. The hallmark feature is fibro-fatty replacement of the right ventricle myocardium characterized by hypokinetic areas with associated arrhythmias originating in the right ventricle. CasePresentation Inthisreporta42yearoldmanwasadmittedatWuhanunion Hospital with the presenting complaints of visual hallucination and difficulty in breathing on exertion, with a family history of sudden death. Clinical and imaging findings are suggestive of Arrhythmogenic right ventricular dysplasia. Conclusion Despitebeingamongtherarecardiacdisease,Arrhythmogenicright ventricular dysplasia is an important cause of ventricular arrhythmias in children and young adults, it is also responsible for sudden cardiac death in the young population, making it necessary for this case report.
Prevalence of Cervical Dysplasia among Women in Kano Municipal ...

African Journals Online (AJOL)

Fifty-seven women had cervical dysplasia giving a prevalence rate of 10.63%. Of the 57 women with cervical dysplasia, 21 (36.8%) had a low grade squamous intraepithelial lesions (LGSIL), while 36(63.2%) had a high grade squamous intraepithelial lesion (HGSIL). The disease was higher in grand multiparous clients ...
Prospective detection of cortical dysplasia on clinical MRI in pediatric intractable epilepsy

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Radhakrishnan, Rupa; Leach, James L.; Gelfand, Michael J. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Mangano, Francesco T. [Cincinnati Children' s Hospital Medical Center, Department of Neurosurgery, Cincinnati, OH (United States); Rozhkov, Leonid; Greiner, Hansel M. [Cincinnati Children' s Hospital Medical Center, Department of Neurology, Comprehensive Epilepsy Treatment Center, Cincinnati, OH (United States); Miles, Lili [Cincinnati Children' s Hospital Medical Center, Department of Pathology, Cincinnati, OH (United States)

2016-09-15

Cortical dysplasia is the most common cause of pediatric refractory epilepsy. MRI detection of epileptogenic lesion is associated with good postsurgical outcome. Additional electrophysiological information is suggested to be helpful in localization of cortical dysplasia. Educational measures were taken to increase the awareness of cortical dysplasia at our institution in the context of a recent International League Against Epilepsy (ILAE 2011) classification of cortical dysplasia. To determine changes in the rate of prospective identification of cortical dysplasia on an initial radiology report and also evaluate the benefit of MRI review as part of a multidisciplinary epilepsy conference in identifying previously overlooked MRI findings. We retrospectively evaluated surgically treated children with refractory epilepsy from 2007 to 2014 with cortical dysplasia on histopathology. We analyzed the initial radiology report, preoperative MRI interpretation at multidisciplinary epilepsy conference and subsequent retrospective MRI review with knowledge of the resection site. We recorded additional electrophysiological data and the presence of lobar concordance with the MRI findings. Of 78 children (44 MRI lesional) evaluated, 18 had initially overlooked MRI findings. Comparing 2007-2010 to 2011-2014, there was improvement in the rate of overlooked findings on the initial radiology report (54% vs. 13% of lesional cases, respectively; P = 0.008). The majority (72%) were identified at a multidisciplinary conference with lobar concordance of findings with at least one additional electrophysiological investigation in 89%. Awareness of current classification schemes of cortical dysplasia and image review in the context of a multidisciplinary conference can lead to improved MRI detection of cortical dysplasia in children. (orig.)
Prospective detection of cortical dysplasia on clinical MRI in pediatric intractable epilepsy

International Nuclear Information System (INIS)

Radhakrishnan, Rupa; Leach, James L.; Gelfand, Michael J.; Mangano, Francesco T.; Rozhkov, Leonid; Greiner, Hansel M.; Miles, Lili

2016-01-01

Cortical dysplasia is the most common cause of pediatric refractory epilepsy. MRI detection of epileptogenic lesion is associated with good postsurgical outcome. Additional electrophysiological information is suggested to be helpful in localization of cortical dysplasia. Educational measures were taken to increase the awareness of cortical dysplasia at our institution in the context of a recent International League Against Epilepsy (ILAE 2011) classification of cortical dysplasia. To determine changes in the rate of prospective identification of cortical dysplasia on an initial radiology report and also evaluate the benefit of MRI review as part of a multidisciplinary epilepsy conference in identifying previously overlooked MRI findings. We retrospectively evaluated surgically treated children with refractory epilepsy from 2007 to 2014 with cortical dysplasia on histopathology. We analyzed the initial radiology report, preoperative MRI interpretation at multidisciplinary epilepsy conference and subsequent retrospective MRI review with knowledge of the resection site. We recorded additional electrophysiological data and the presence of lobar concordance with the MRI findings. Of 78 children (44 MRI lesional) evaluated, 18 had initially overlooked MRI findings. Comparing 2007-2010 to 2011-2014, there was improvement in the rate of overlooked findings on the initial radiology report (54% vs. 13% of lesional cases, respectively; P = 0.008). The majority (72%) were identified at a multidisciplinary conference with lobar concordance of findings with at least one additional electrophysiological investigation in 89%. Awareness of current classification schemes of cortical dysplasia and image review in the context of a multidisciplinary conference can lead to improved MRI detection of cortical dysplasia in children. (orig.)
Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.

OpenAIRE

Woods, C G; Rogers, J G; Mayne, V

1994-01-01

We report a family in which two sibs have both achondroplasia and pseudoachondroplastic dysplasia. The mother has achondroplasia and the father has pseudoachondroplastic dysplasia, which he had inherited from his father. Both children appeared typical of achondroplasia at birth. By 1 1/2 years they had developed a fixed lumbar kyphosis with gibbus and had additional x ray changes unusual for just achondroplasia and suggestive of pseudoachondroplastic dysplasia. Subsequently both children have...
Florid osseous dysplasia of the jaws

International Nuclear Information System (INIS)

Cho, Su Beom; Koh, Kwang Joon

1995-01-01

Few cases of florid osseous dysplasia has been described as a condition that characteristically affects the jaws. It usually manifests as multiple radiopaque masses distributed throughout the jaws. Confusion exists about the relationship of florid osseous dysplasia, gigantiform cementoma, chronic sclerosing osteomyelitis, sclerosing osteitis or multiple enostosis. Authors experienced a case of florid osseous dysplasia of the jaws in 52-year-old female on the basis of clinical, radiographic and histopathologic findings. The characteristic features are as follows: 1. In clinical examination, there was no clinical sign and symptoms except extrated area. And there was no facial asymmetry. 2. Radiograms show round or lobular dense radiopaque masses surrounded by radiolucent bands in lower molar teeth area bilaterally. And slight increased radiopacities in maxillary molar teeth area bilaterllay. There was no expansion or thinning of buccal and lingual cortical bones. There is no displacement or resorption of involved teeth. In right side of mandible, mandibular canal is displaced inferiorly due to mass. 3. Photomicrograms show densely mineralized sclerotic acellular masses with empty lacunae. Pattern is suggestive of cementum, although it could be considered sclerotic bone. In the periphery, lesion consisting of moderately cellular fibrous tissue in calcified products are deposited.
Septooptic dysplasia : a case report

International Nuclear Information System (INIS)

Kim, Jung Hae; Choi, Dae Seob; Lee, Chang Wook; Kim, Soon; Kim, Seung Hyeon; Lee, Sung Woo; Ha, Jung Ho; Sakong, Jung Kyu; Lee, Hyeon Kyeong

2001-01-01

Septooptic dysplasia is a rare anterior midline anomaly considered to be a mild form of lobar holoprosencephaly. We describe a case with unilateral optic nerve hypoplasia and the absence of a septum pellucidum

Genetics Home Reference: metatropic dysplasia

Science.gov (United States)

... is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is ... my area? Other Names for This Condition metatropic dwarfism metatropic dysplasia type 1 Related Information How are ...
Fibromuscular dysplasia of renal arteries

International Nuclear Information System (INIS)

Akhtar, N.; Ahmed, T.M.

2007-01-01

This case reports a young child having uncontrolled hypertension, resulting from bilateral renal artery stenosis due to fibromuscular dysplasia presenting with abdominal pain, headache and visual disturbance. Diagnostic features and management is discussed. (author)
Infantile bilateral glaucoma in a child with ectodermal dysplasia.

Science.gov (United States)

Callea, Michele; Vinciguerra, Agatino; Willoughby, Colin E; Deroma, Laura; Clarich, Gabriella

2013-01-01

Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED.
Human papilloma virus infection and cervical dysplasia.

Science.gov (United States)

Melinte-Popescu, Alina; Costăchescu, Gh

2012-01-01

Pap testing is considered to be the best screening tool for cervical cancer but there is currently great interest in the possible application of human papilloma virus (HPV) testing to supplement Pap screening for cervical cancer. To determine the prevalence of high-risk HPV types in the studied population and to explore the association between high-risk HPV types and cervical dysplasia. Cross-sectional study conducted at the Iasi Cuza Voda Obstetrics-Gynecology Hospital and Suceava County Hospital. 332 women who underwent colposcopy for cervical lesions between 2006 and 2011 were included in this study. The overall prevalence of HPV was 57.23%. HPV prevalence differs significantly in the three age groups up to 50 years. It was highest in patients below the age of 40 and progressively lower with advancing age. The overall prevalence of cervical dysplasia was 56.62%. The prevalence of cervical dysplasia was highest in the age groups up to 40 years. The most important determinant of HPV infection is age. Persistence of HPV appears to be associated with progression to squamous intraepithelial lesion. Dysplasia is often missed in a cervical sample either because of human error in screening and interpretation, or because of suboptimal quality of Pap smear. Incorporation of HPV testing into the present Pap screening program has the potential of making screening for cervical cancer more effective, and a necessary prelude to assessing this is by determining the prevalence of the high-risk types.
[Bronchopulmonary dysplasia: definitions and classifications].

Science.gov (United States)

Sánchez Luna, M; Moreno Hernando, J; Botet Mussons, F; Fernández Lorenzo, J R; Herranz Carrillo, G; Rite Gracia, S; Salguero García, E; Echaniz Urcelay, I

2013-10-01

Bronchopulmonary dysplasia is the most common sequelae related to very low birth weight infants, mostly with those of extremely low birth weight. Even with advances in prevention and treatment of respiratory distress syndrome associated with prematurity, there is still no decrease in the incidence in this population, although a change in its clinical expression and severity has been observed. There are, however, differences in its frequency between health centres, probably due to a non-homogeneously used clinical definition. In this article, the Committee of Standards of the Spanish Society of Neonatology wishes to review the current diagnosis criteria of bronchopulmonary dysplasia to reduce, as much as possible, these inter-centre differences. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.
Curved planar reconstruction of MR images in focal cortical dysplasia of the brain

International Nuclear Information System (INIS)

Chung, Gyung Ho; Lee, Sang Yong; Kim, Chong So; Kim, Young Kon; Lee, Young Hwan; Jeong, Su Hyun

2002-01-01

To describe curved planar reconstruction imaging (CPR) and determine its usefulness in the evaluation of focal cortical dysplasia of the brain. In 17 cases of focal cortical dysplasia (cortical dysplasia (n=9), schizencephaly (n=5), and heterotopia (n=3), CPR images were created using a multiplanar reconstruction program and imaging data obtained during T1 magnetization prepared rapid acquisition gradient-echo MR imaging. We assessed the precise configuration of abnormalities and their relation to adjacent gyri and sulci. CPRI showed the brain cortex as a 2D panoramic image, demonstrating the precise configurations and locations of dysplasia-associated abnormalities and their relation to adjacent gyri and sulci, and the precise shape of the gray-white matter interface. CPRI can provide important radiological information about the extension and configuration of focal cortical dysplasia, and its relation to neighboring cortical structures. We believe that CPRI should form an essential part of the routine investigation os suspected cases of focal cortical dysplasia
Lung volume reduction surgery in bronchopulmonary dysplasia.

Science.gov (United States)

Siaplaouras, J; Heckmann, M; Reiss, I; Schaible, T; Waag, K L; Gortner, L

2003-06-01

We report on a female preterm infant of 29 wk gestational age, who developed acquired lobar emphysema after prolonged artificial ventilation secondary to respiratory disease syndrome and bronchopulmonary dysplasia. The infant underwent atypical segmentectomy at the age of 12 mo because of life-threatening hypoxaemia with pulmonary hypertension and failure of conservative treatment. Lung volume reduction surgery (LVRS) dramatically improved the respiratory function and resulted in adequate weight gain and psychomotor development. In selected cases LVRS can be an option for lobar emphysema in premature infants with severe bronchopulmonary dysplasia.
Rasmussen's encephalitis presenting as focal cortical dysplasia

Science.gov (United States)

O'Rourke, D.J.; Bergin, A.; Rotenberg, A.; Peters, J.; Gorman, M.; Poduri, A.; Cryan, J.; Lidov, H.; Madsen, J.; Harini, C.

2014-01-01

Rasmussen's encephalitis is a rare syndrome characterized by intractable seizures, often associated with epilepsia partialis continua and symptoms of progressive hemispheric dysfunction. Seizures are usually the hallmark of presentation, but antiepileptic drug treatment fails in most patients and is ineffective against epilepsia partialis continua, which often requires surgical intervention. Co-occurrence of focal cortical dysplasia has only rarely been described and may have implications regarding pathophysiology and management. We describe a rare case of dual pathology of Rasmussen's encephalitis presenting as a focal cortical dysplasia (FCD) and discuss the literature on this topic. PMID:25667877
Fibrous dysplasia of bone

International Nuclear Information System (INIS)

Kim, Kyung Soo; Lee, Sang Wook; Cho, Young Jun; Kim, Young Sook

1983-01-01

Fibrous dysplasia of bone is a skeletal development anomaly of unknown etiology characterized by single or multiple areas of fibrous tissue replacement of medullary cavity of one or more bones. The disease may be localized to single bone (monostotic form) or may affect multiple bones (polyostotic form). Eighteen cases of fibrous dysplasia diagnosed by roentgenlogic or histologic assessment at Chosun University Hospital, Chosun University Hospital and Kwangju Christian Hospital during recent ten tears were analyzed clinically and radiologically. The results were as follows: 1. 16 case of them had monostotic involvement, and 2 cases showed polyostotic disease, but none of our series presented Albright's syndrome. 2. The male to female ratio in this series was 10 : 8, but then 2 polyostotic forms of them were females. In age distribution, peak incidence at the time of diagnosis was in the age group of second decade (10 cases). 3. Maxilla (6 cases) and femur (4 case) were frequently involved sites in patients with monostotic lesion, whereas polyostotic lesions diffusely affected skull, pelvis, ribs and limb bones. 4. The clinical symptoms according to the extent and site of disease were very variable, which were localized painless or painful swelling, nasal obstruction, deformity of face or extremity and incidentally during routine roentgen study. 5. The chemical abnormality of blood serum was moderate degree of elevated serum alkaline phosphatase in only one patients with monostotic lesion. 6. The main radiologic findings of fibrous dysplasia were relatively well circumscribed single or multiloculated cystilike appearance, bone expansion, cortical thinning and/or erosion, bony deformity and pathologic fracture, but especially in maxilla, dense homogenous area with expanding lesion was observed in our series
Podoplanin expression as a predictive marker of dysplasia in oral leukoplakia.

Science.gov (United States)

Gissi, Davide Bartolomeo; Gabusi, Andrea; Tarsitano, Achille; Luccarini, Laura; Morandi, Luca; Montebugnoli, Lucio

2018-05-01

Recent studies have emphasized the role of podoplanin in oral lesions at risk of malignant transformation. We investigated a group of oral leukoplakias (OLs) to determine a possible relation between altered podoplanin expression and dysplasia, and to compare the results with those obtained by other, widely used biomarkers. The population consisted of 40 consecutive patients with a clinical and histological diagnosis of OL. Thirty-two OLs did not show dysplasia, whereas eight lesions presented with dysplasia. Immunohistochemical expression of podoplanin, p53 and Ki67 was analyzed in all samples. All three biomarkers were positive in seven of eight dysplastic OLs. Among the 32 OLs without dysplasia, Ki67 and p53 showed positive values in 21 and 10 samples respectively, whereas podoplanin was positive in only one case. Multiple logistic regression showed that podoplanin was the most powerful variable (Chi square 9.77; p < .01) statistically related to the presence of dysplasia. In addition, podoplanin showed a higher specificity value (96.87%) than Ki67 (34.37%) and p53 (68.75%). Podoplanin seems to be a reliable means of discriminating lesions with epithelial dysplasia and could be introduced in routine practice as a marker to discriminate OLs at risk of developing cancer. Copyright © 2018 European Association for Cranio-Maxillo-Facial Surgery. Published by Elsevier Ltd. All rights reserved.
Bilateral Cerebellar Cortical Dysplasia without Other Malformations: A Case Report

Energy Technology Data Exchange (ETDEWEB)

Oh, Jung Seok; Ahn Kook Jin; Kim, Jee Young; Lee, Sun Jin; Park, Jeong Mi [Catholic University Yeouido St. Mary' s Hospital, College of Medicine, Seoul (Korea, Republic of)

2010-06-15

Recent advances in MRI have revealed congenital brain malformations and subtle developmental abnormalities of the cerebral and cerebellar cortical architecture. Typical cerebellar cortical dysplasia as a newly categorized cerebellar malformation, has been seen in patients with Fukuyama congenital muscular dystrophy. Cerebellar cortical dysplasia occurs at the embryonic stage and is often observed in healthy newborns. It is also incidentally and initially detected in adults without symptoms. To the best of our knowledge, cerebellar dysplasia without any related disorders is very rare. We describe the MRI findings in one patient with disorganized foliation of both cerebellar hemispheres without a related disorder or syndrome
Perinatal Autopsy Findings in a Case of De Novo Hypohidrotic Ectodermal Dysplasia.

Science.gov (United States)

Chikkannaiah, Panduranga; Nagaraju, Smitha; Kangle, Rajit; Gosavi, Mansi

2015-01-01

Ectodermal dysplasia are group of inherited disorders involving the developmental defects of ectodermal structures like hair, teeth, nails, sweat glands, and others. X-linked recessive inheritance is most common. Here we describe perinatal autopsy findings in a case of de novo ectodermal dysplasia in a female fetus. To the best of our knowledge, this is the first fetal autopsy description in a case of ectodermal dysplasia.
Occipital dysplasia and associated cranial spinal cord abnormalities in two dogs

International Nuclear Information System (INIS)

Bagley, R.S.; Harrington, M.L.; Tucker, R.L.; Sande, R.D.; Root, C.R.; Kramer, R.W.

1996-01-01

Occipital dysplasia was found in association with cervical spinal cord abnormalities in two dogs. One dog presented for tetraparesis and cervical hyperesthesia, the other for historical cervical hyperesthesia and mild paraparesis. In dog 1, a midline cervical spinal cord defect consistent with a communicating syrinx was found. In the other dog, a presumptive syringo/hydromyelia of the cervical spinal cord was found on magnetic resonance imaging. While occipital dysplasia alone is not thought to cause any clinical abnormalities, the dogs of this report suggest that intramedullary central nervous system abnormalities may be present concurrently with occipital dysplasia and should be considered as a possible cause of the clinical signs. The relationship between occipital dysplasia and syringo/hydromyelia in these dogs remains unclear, however, similar associated abnormalities are occasionally found in humans with Chiari malformation
The clinical research of bone scan in patients with fibrous dysplasia of bone

International Nuclear Information System (INIS)

Yuan Zhibin; Yu Jianfang; Luo Quanyong; Lu Hankui; Zhu Jifang; Zhu Ruisen

2002-01-01

Objective: To study the characteristics of fibrous dysplasia of bone in bone imaging and evaluate the diagnostic value of radionuclide bone scan in fibrous dysplasia of bone. Methods: All 42 cases of fibrous dysplasia of bone patients had radionuclide bone scan performed and compared with other imaging modalities. A retrospective study method was used to analyze the imaging results. Results: Although fibrous dysplasia of bone showed uptake of 99m Tc-MDP in the images, its appearance characteristic was different from those metastatic bone tumors and other bone diseases. Combining with X rays and other imaging modalities can improve the diagnostic accuracy of this disease. Conclusion: Radionuclide bone scan has got certain value in the diagnosis of fibrous dysplasia of bone. Combining with other imaging modality can make up its disadvantage of low specificity
p63 in skin development and ectodermal dysplasias

Science.gov (United States)

Koster, Maranke I.

2010-01-01

The transcription factor p63 is critically important for skin development and maintenance. Processes that require p63 include epidermal lineage commitment, epidermal differentiation, cell adhesion, and basement membrane formation. Not surprisingly, alterations in the p63 pathway underlie a subset of ectodermal dysplasias, developmental syndromes in which the skin and skin appendages do not develop normally. This review summarizes the current understanding of the role of p63 in normal development and ectodermal dysplasias. PMID:20445549
Death due to complications of anhidrotic ectodermal dysplasia.

Science.gov (United States)

Ogden, Emily; Schandl, Cynthia; Tormos, Lee Marie

2014-11-01

Ectodermal dysplasia comprises a group of disorders affecting ectodermal tissues. Severity depends on the genetic aberration; hyperpyrexia secondary to absence of sweat glands is a common complication. Treatment is supportive. This case report describes a 1-month, 27-day-old male infant with a diagnosis of X-linked recessive anhidrotic ectodermal dysplasia. On the day of his death, his mother swaddled him in a blanket and placed him on the couch at 5:30 am. When she picked him up at 8:00 am, he was unresponsive. At the emergency department, his rectal temperature was 40°C. Postmortem blood culture was positive for group B streptococcus, a possible etiology for fever. It is vital to teach parents that close monitoring of children with ectodermal dysplasia is necessary, as an increase in body temperature can become life threatening. © 2014 American Academy of Forensic Sciences.
A case report of arrhythmogenic right ventricular dysplasia

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Henry Anselmo Mayala

2013-07-01

Full Text Available Background Arrhythmogenic right ventricular dysplasia is an autosomal dominant disorder affecting parts of myocardium known as desmosomes, areas on the surface of heart muscle cells which link the cells together. The hallmark feature is fibro-fatty replacement of the right ventricle myocardium characterized by hypokinetic areas with associated arrhythmias originating in the right ventricle. Case Presentation In this report a 42 year old man was admitted at Wuhan union Hospital with the presenting complaints of visual hallucination and difficulty in breathing on exertion, with a family history of sudden death. Clinical and imaging findings are suggestive of Arrhythmogenic right ventricular dysplasia. Conclusion Despite being among the rare cardiac disease, Arrhythmogenic right ventricular dysplasia is an important cause of ventricular arrhythmias in children and young adults, it is also responsible for sudden cardiac death in the young population, making it necessary for this case report.
Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, keratoderma, abnormal teeth and deafness

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Akhyani Maryam

2007-01-01

Full Text Available The ectodermal dysplasias are a heterogeneous group of disorders with primary defect in hair, teeth, nail and sweat gland function. Numerous types have been described and several classifications exist. Here, we present a patient with ectodermal dysplasia with alopecia, dysplastic nails, hypohidrosis, sensorineural deafness, palmoplantar keratoderma, abnormal teeth and dry skin. To our knowledge, combination of all these features in ectodermal dysplasia has not been reported in the past. The etiology is unknown, but consanguinity of parents points to an autosomal recessive inheritance.
Genetics Home Reference: frontonasal dysplasia

Science.gov (United States)

... respective protein. As a result, the regulation of cell organization during development of the head and face is ... Craniofacial Association: A Guide to Understanding Frontonasal Dysplasia (PDF) Disease InfoSearch: ... Organization for Rare Disorders (NORD) Operation Smile Resource List ...
Clinical features of muscle dysmorphia among males with body dysmorphic disorder

OpenAIRE

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...

Rasmussen's encephalitis presenting as focal cortical dysplasia

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D.J. O'Rourke

2014-01-01

Full Text Available Rasmussen's encephalitis is a rare syndrome characterized by intractable seizures, often associated with epilepsia partialis continua and symptoms of progressive hemispheric dysfunction. Seizures are usually the hallmark of presentation, but antiepileptic drug treatment fails in most patients and is ineffective against epilepsia partialis continua, which often requires surgical intervention. Co-occurrence of focal cortical dysplasia has only rarely been described and may have implications regarding pathophysiology and management. We describe a rare case of dual pathology of Rasmussen's encephalitis presenting as a focal cortical dysplasia (FCD and discuss the literature on this topic.
The role of partial denture in management of hypohidrotic ectodermal dysplasia

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Tania Saskianti

2008-06-01

Full Text Available Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. The ectodermal dysplasia constitutes a group of hereditary disorders whose clinical manifestation can be defects in ectodermal structures. The case of a 11-year-old child with hypohidrotic ectodermal dysplasia and partial anodontia is presented. Affected children require extensive dental treatment to restore appearance and help the development of a positive self image. Partial denture was provided to encourage a normal psychological development and to improve the function of the stomatognatic system. It is important for the patient and the dentist to understand that continued monitoring for dental problems is necessary. This paper had an objective to relate and discuss a case of hypohidrotic ectodermal dysplasia, with the approach of the influence of an esthetic rehabilitation and functional alternative in the improvement of the quality of life.
Displasia broncopulmonar Bronchopulmonary dysplasia

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Luciana F. Velloso Monte

2005-04-01

Full Text Available OBJETIVO: Apresentar uma ampla revisão da literatura sobre displasia broncopulmonar, abordando novas definições, fisiopatologia, prevenção, tratamento, prognóstico e evolução. FONTE DOS DADOS: Foram selecionados os artigos mais relevantes sobre o tema, desde a sua descrição inicial, em 1967, pesquisados na MEDLINE. SÍNTESE DOS DADOS: A displasia broncopulmonar é considerada uma das principais causas de doença pulmonar crônica em lactentes. Está associada a hospitalizações freqüentes e prolongadas, especialmente por doenças pulmonares, altos índices de mortalidade e alterações no desenvolvimento neuropsicomotor e no crescimento pôndero-estatural. A patogênese é complexa e influenciada principalmente por prematuridade, infecção, oxigênio suplementar e ventilação mecânica. A prevenção envolve o acompanhamento pré-natal adequado, a prevenção do parto prematuro, o uso pré-natal do corticosteróide, a terapia de reposição de surfactante e o uso de estratégias ventilatórias "protetoras". O tratamento do paciente com displasia broncopulmonar demanda uma equipe multidisciplinar. Quando indicada, a suplementação de oxigênio é de extrema importância. Apesar de maior risco de morbimortalidade nos primeiros anos de vida, a evolução em longo prazo é favorável na maioria das vezes. CONCLUSÕES: A displasia broncopulmonar vem sendo profundamente estudada na tentativa de identificação das suas causas e possibilidades de prevenção e de tratamento. Ainda existem controvérsias quanto a esses assuntos e também em relação ao prognóstico desses pacientes, especialmente quando se trata da evolução tardia da "nova" displasia broncopulmonar.OBJECTIVE: To present a wide-ranging review of the literature on bronchopulmonary dysplasia, covering new definitions, pathophysiology, prevention, treatment, prognosis and progression. SOURCES OF DATA: The most relevant articles published on the subject since it was first
Progression of hip dysplasia in 40 police working dogs: a retrospective study

International Nuclear Information System (INIS)

Zorko, B.; Ivanusa, T.; Pelc, R.

2005-01-01

The aim of the study was to evaluate the effects of progression of CHD and degenerative joint disease on a working capability of population of police working dogs. In the first part of the study, we reviewed the whole health documentation of all dogs and gathered all necessary radiographs of hip joints that were taken at first initial procurement. In the second part, clinical examination and radiographs of all dogs were taken 60 months after first examination and the progression of hip dysplasia was evaluated by the FCI scheme. All dogs were male, 35 German shepherds and 5 Rottweilers. The Norberg-Olsson angle in the first set of radiographs was 105.54 +/- 3.22 deg in 37 dogs without hip dysplasia and 100.17 +/- 2.99 deg in 3 dogs with initial mild dysplasia. In the second set of radiographs taken after 60 months of service the Norberg- Olsson angle was 105.60 +/- 3.67 deg in 23 dogs with no signs of hip dysplasia and 101.62 +/- 4.49 deg in 17 dogs with hip dysplasia. On the first set of radiographs, secondary degenerative changes were found in 3 dogs with initial mild dysplasia (7.5 %) and in 14 dogs (35 %) on second radiographs. The position of the centre of the femoral head on first radiographs was outside of dorsal acetabular rim in 25 (31.25 %) of estimated hip joints (n = 80); at the level of the rim in 30 (37.5 %) and inside in 25 (31.25 %). On second radiographs it was outside in 41 (51.25 %); at the level of the rim in 26 (32.5 %); and inside in 13 (31.25 %) of estimated hip joints. The mean femoral angle of inclination for all 40 dogs was 132.50 +/- 4.39? deg . If it has occured, the increase in degree of hip dysplasia was generally more than one degree. In 57.5 % of cases hip dysplasia was not determined on second radiographs. All dogs with some degree of hip dysplasia were German shepherds, but only one of them had clinical symptoms connected to CHD. The progression of hip dysplasia did not correlate with work period of the dogs, and has no influence on
Cranioectodermal Dysplasia : A Probable Ciliopathy

NARCIS (Netherlands)

Konstantinidou, Anastasia E.; Fryssira, Helen; Sifakis, Stavros; Karadimas, Charalampos; Kaminopetros, Petros; Agrogiannis, Georgios; Velonis, Stylianos; Nikkels, Peter G. J.; Patsouris, Efstratios

2009-01-01

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive genetic disorder characterized by typical craniofacial, skeletal and ectodermal defects, and tubulointerstitial nephritis leading to early end-stage renal failure. We report on a new familial case
Chondrosarcoma occurring in a patient with polyostotic fibrous dysplasia

Energy Technology Data Exchange (ETDEWEB)

De Smet, A.A.; Travers, H.; Neff, J.R.

1981-12-01

A 36-year-old white man with polyostotic fibrous dysplasia was found to have a high-grade chondrosarcoma arising from the left ilium. Although a left hemipelvectomy was performed, the patient subsequently developed sacral and pulmonary metastases and succumbed to his disease. This patient represents the first documented example of an unequivocally high-grade chondrosarcoma arising in an area of fibrous dysplasia without prior irradiation.
Keratoprosthesis in Ectodermal Dysplasia.

Science.gov (United States)

Wozniak, Rachel A F; Gonzalez, Mithra; Aquavella, James V

2016-07-01

To describe the complex surgical management and novel medical approach for a keratoprosthesis (KPro Boston type I) in a monocular, 73-year-old patient with ectodermal dysplasia and chronic, noninfectious corneal necrosis. Best-corrected visual acuity (BCVA) was measured with Snellen letters. Surgical intervention included an amniotic membrane graft, complete replacement of the KPro, conjunctival flap graft, corneal donor tissue grafts combined with inferior rectus muscle advancement, periosteal tissue graft, tarso-conjunctival flap construction, and symblepharolysis. Infliximab was used as a medical adjunctive therapy. Initial KPro placement provided a BCVA of 20/25 and long-term stability. Subsequent chronic melting at the optic border necessitated numerous surgeries to prevent extrusion and failure. Ultimate fistulization was addressed with the formation of a surgical pocket. The addition of infliximab promoted ocular surface stability, and the patient has maintained a BCVA of 20/80. Ectodermal dysplasia can result in eyelid and corneal abnormalities, requiring a KPro for visual restoration. In the setting of chronic, sterile corneal melt, novel surgical approaches and the off-label use of infliximab allowed for visual rehabilitation.
A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms.

Science.gov (United States)

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.
Pelvic orientation and assessment of hip dysplasia in adults

DEFF Research Database (Denmark)

Jacobsen, S.; Holm, S.S.; Lund, B.

2004-01-01

on the measurements of radiographic indices of hip dysplasia. MATERIAL AND METHODS: We investigated the effect of varying pelvic orientation on radiographic measurements of acetabular dysplasia using a cadaver model. Results from the cadaver study were used to validate the radiographic assessments of acetabular...... radiograph was recorded at each 3 degrees increment. The most widely used radiographic parameters of hip dysplasia were assessed. 2) Critical limits of acceptable rotation and inclination/reclination of pelvises were determined on 4151 standing, standardised pelvic radiographs of the CCHS cohort. RESULTS......BACKGROUND: The study was performed to qualify the source material of 4151 pelvic radiographs for the research into the relationship between unrecognised childhood hip disorders and the development of hip osteoarthrosis, and to investigate the effect of varying degrees of pelvic tilt and rotation...
Populations of Radial Glial Cells Respond Differently to Reelin and Neuregulin1 in a Ferret Model of Cortical Dysplasia

Science.gov (United States)

2010-10-28

postnatally [11,12,13,14,15]. Ferrets are also the smallest mammals with a convoluted cortex [16]. Proliferation of intermediate progenitor cells in ferrets...24th day of development (E24) disrupts early cortical development, resulting in a thin and poorly laminated cortex, where neurons migrating radially and
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。
Ectodermal Dysplasia with Amastia: A Case of One-Step Reconstruction

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M. Klinger

2009-01-01

Full Text Available Background. Female patients presenting amastia associated with ectodermal dysplasia are not frequently encountered, but they are of great clinical interest and surgically demanding. Traditionally, skin alterations related to Ectodermal Dysplasia have addressed plastic surgeons to perform a two-stage approach in amastia associated with this congenital pathologic condition. This article describes an alternative method for correcting this deformity trough a mammary reconstruction in one surgical stage. Materials and Methods. We report a case of 26-year-old female patient with bilateral amastia associated with ectodermal dysplasia. Amastia in this patient was treated with implantation of subpectoral silicone gel prostheses, without previously breast tissue expansion. Results. At 18 months of follow-up after surgey, there were no complications and excellent cosmetic results were achieved. Patient and surgeon satisfaction was high and the patient underwent a bilateral areola-tattoo. Conclusions. One-stage mammary reconstruction have showed to be a reliable and effective technique also when amastia is associated with Ectodermal Dysplasia, suggesting a still satisfying biomechanical performance of the skin in this pathology.
Andhidrotic ectodermal dysplasia-autosomal recessive form

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Inamadar Arun

1994-01-01

Full Text Available Anhidrotic ectodermal dysplasia with classical features in 2 sisters is reported. The mode of inheritance in these seems to be autosomal recessive; which is a very rare occurrence.
Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia

International Nuclear Information System (INIS)

Hisaoka, Masanori; Hashimoto, Hiroshi; Ohguri, Takayuki; Aoki, Takatoshi; Okamoto, Sumika; Ishida, Tsuyoshi; Tanaka, Hidetoshi; Okimoto, Nobukazu; Nakamura, Toshitaka

2004-01-01

We describe a recently noted association of congenital (infantile) pseudarthrosis of the lower leg with osteofibrous dysplasia. The patient was a 2-year-old boy who presented with a deformed left ankle joint and three cutaneous cafe-au-lait spots. Radiography demonstrated pseudarthrosis of the left distal fibula and a round lucent lesion adjacent to the proximal part of the pseudarthrosis. Histologically, the surgically removed fibula with pseudarthrosis showed a fibromatosis-like fibrovascular proliferation and nonspecific reparative changes. The focal lucent area demonstrated a fibro-osseous lesion, which was histologically identical to osteofibrous dysplasia. This case provides further evidence that osteofibrous dysplasia may be associated with congenital (infantile) pseudarthrosis of the lower leg. (orig.)
Hereditary ectodermal dysplasia: Report of 11 patients from a family

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Seema Vaidya

2013-01-01

Full Text Available Hereditary Ectodermal Dysplasia is an inherited disorder commonly involving skin, teeth, hair, and nails. We have observed ectodermal dysplasia (EDs in 11 individuals over two generations in one family. Smooth, dry, thin skin was seen in most affected individuals. All had fine, slow-growing scalp hair and body hair and some had sparse eyebrows and short eyelashes. Nearly all showed decrease in sweating. Severe teeth abnormalities were seen in all patients and fingernail abnormalities were not so severe but toenail abnormalities were seen in all patients. No other abnormalities were seen in affected individuals in this family. It is very rare to find such a large family having ectodermal dysplasia.
Chronic renal failure due to unilateral renal agenesis and total renal dysplasia (=aplasia)

International Nuclear Information System (INIS)

Kroepelin, T.; Ziupa, J.; Wimmer, B.

1983-01-01

Three adult patients with unilateral renal agenesis/total dysplasia (= aplasia) and with an early chronic renal failure are presented. One patient had renal agenesis without ureter bud and ureteric ostium on one side, and reflux pyelonephritis on the other; one had small compact total renal dysplasia (= aplasia) on one side, while chronic uric acid nephropathy (chronic renal disease as a cause of gout) was diagnosed on the other; the third patient had a total large multicystic dysplasia on one side, and on the other a segmental large multicystic dysplasia. Radiological steps and radiodiagnostic criteria are discussed and the combination of urogenital and extraurogenital anomalies is referred to. (orig.)
Thalamic Massa Intermedia Duplication in a Dysmorphic 14 month-old Toddler.

Science.gov (United States)

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.
Respiratory Phenotypes for Preterm Infants, Children, and Adults: Bronchopulmonary Dysplasia and More.

Science.gov (United States)

Collaco, Joseph M; McGrath-Morrow, Sharon A

2018-05-01

Ongoing advancements in neonatal care since the late 1980s have led to increased numbers of premature infants surviving well beyond the neonatal period. As a result of increased survival, many individuals born preterm manifest chronic respiratory symptoms throughout infancy, childhood, and adult life. The archetypical respiratory disease of prematurity, bronchopulmonary dysplasia, is the second most common chronic pediatric respiratory disease after asthma. However, there are several commonly held misconceptions. These misconceptions include that bronchopulmonary dysplasia is rare, that bronchopulmonary dysplasia resolves within the first few years of life, and that bronchopulmonary dysplasia does not impact respiratory health in adult life. This focused review describes a spectrum of respiratory conditions that individuals born prematurely may experience throughout their lifespan. Specifically, this review provides quantitative estimates of the number of individuals with alveolar, airway, and vascular phenotypes associated with bronchopulmonary dysplasia, as well as non-bronchopulmonary dysplasia respiratory phenotypes such as airway malacia, obstructive sleep apnea, and control of breathing issues. Furthermore, this review illustrates what is known about the potential for progression and/or lack of resolution of these respiratory phenotypes in childhood and adult life. Recognizing the spectrum of respiratory phenotypes associated with individuals born preterm and providing comprehensive and personalized care to these individuals may help to modulate adverse respiratory outcomes in later life.
Acro-mesomelic dysplasia - a new type

International Nuclear Information System (INIS)

Brahimi, L.; Bacha, L.; Kozlowski, K.; Massen, R.; Zenati, M.

1988-01-01

Two siblings who represent a new type of acro-mesomelic dysplasia are reported. The unique pattern of the acro-mesomelic hypoplastic/dysplastic changes allows us to designate as a new syndrome. (orig.)
Radial nerve dysfunction

Science.gov (United States)

Neuropathy - radial nerve; Radial nerve palsy; Mononeuropathy ... Damage to one nerve group, such as the radial nerve, is called mononeuropathy . Mononeuropathy means there is damage to a single nerve. Both ...

Endoscopic Therapeutic Approach for Dysplasia in Inflammatory Bowel Disease

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Sung Noh Hong

2017-09-01

Full Text Available Long-standing intestinal inflammation in patients with inflammatory bowel disease (IBD induces dysplastic change in the intestinal mucosa and increases the risk of subsequent colorectal cancer. The evolving endoscopic techniques and technologies, including dye spraying methods and high-definition images, have been replacing random biopsies and have been revealed as more practical and efficient for detection of dysplasia in IBD patients. In addition, they have potential usefulness in detailed characterization of lesions and in the assessment of endoscopic resectability. Most dysplastic lesions without an unclear margin, definite ulceration, non-lifting sign, and high index of malignant change with suspicion for lymph node or distant metastases can be removed endoscopically. However, endoscopic resection of dysplasia in chronic IBD patients is usually difficult because it is often complicated by submucosal fibrosis. In patients with dysplasias that demonstrate submucosa fibrosis or a large size (≥20 mm, endoscopic submucosal dissection (ESD or ESD with snaring (simplified or hybrid ESD is an alternative option and may avoid a colectomy. However, a standardized endoscopic therapeutic approach for dysplasia in IBD has not been established yet, and dedicated specialized endoscopists with interest in IBD are needed to fully investigate recent emerging techniques and technologies.
Brachial artery aneurysm and thrombosis secondary to fibromuscular dysplasia

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Julia Louise Jones, MBBS

2016-09-01

Full Text Available Fibromuscular dysplasia is a pathologic process causing stenosis and dilation of medium-caliber arteries of unknown etiology. It most commonly affects the renal and carotid arteries; however, it has been described in virtually all anatomic areas, including, rarely, the brachial artery. We describe a case of brachial artery aneurysm and thrombosis in a 29-year-old man secondary to fibromuscular dysplasia, treated surgically with excision, embolectomy, interposed vein graft, and anticoagulation.
Hereditary hypohidrotic ectodermal dysplasia: report of a rare case.

Science.gov (United States)

Paramkusam, Geetha; Meduri, Venkateswarlu; Nadendla, Lakshmi Kavitha; Shetty, Namratha

2013-09-01

Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers. It is characterised by congenital dysplasia of one or more ectodermal structures and it is manifested by hypohidrosis, hypotrichosis and hypodontia. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Here, we are presenting a rare case of HHED in a 19 year female with classic features of this condition.
Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome

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Mohita Marwaha

2012-01-01

Full Text Available The ectodermal dysplasias (EDs are a large and complex group of diseases. More than 170 different clinical conditions have been recognized and defined as ectodermal dysplasias. Commonly involved ectodermal-derived structures are hair, teeth, nails, and sweat glands. In some conditions, it may be associated with mental retardation. We report a case of 10-year-old male child with ectrodactyly, syndactyly, ED, cleft lip/palate, hearing loss, and mental retardation.
Prevalence of body dysmorphic disorder and associated features in German adolescents: A self-report survey.

Science.gov (United States)

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.
Delayed ossification of the femoral head in dogs with hip dysplasia

International Nuclear Information System (INIS)

Madsen, J.S.; Reimann, I.; Svalastoga, E.

1991-01-01

In humans, delayed ossification of the caput femoris is often seen associated with hip dysplasia in babies. This phenomenon may possibly exist in dogs. In this study, the radiographic appearance of the caput femoris of 13 German shepherd dogs was examined. The dogs underwent pelvic radiography at the age of 14 to 15 days, six weeks, and 12 months. A significant relationship was shown between hip dysplasia and the late appearance of the epiphysis of the caput femoris (P=0–02). At the age of 14 to 15 days it was not possible to see both epiphyses in 54 per cent of the dogs. All of these dogs had hip dysplasia when they were 12 months old. This was in contrast to the six dogs which had both epiphyses visible when they were 14 to 15 days old. At 12 months of age, four of these dogs (67 per cent) did not show any sign of hip dysplasia
Remember the periroot sheet in orthodontic treatment of ectodermal dysplasia patients

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Izabella Vest Hansen

2014-01-01

Full Text Available Introduction: Root resorption has various etiologies. Recent studies have demonstrated a periroot sheet covering the root. The outermost layer of this sheet is the Malassez′ epithelial layer. Tooth malformations are seen in ectodermal dysplasia and it is believed that the ectodermal layer in the periroot sheet differs in cases of ectodermal dysplasia. Case reports: Three cases of unexpected severe root resorption are demonstrated. Two cases were diagnosed with ectodermal dysplasia and the third appeared with thin, curly hair and absence of eyebrows but no ectodermal diagnosis. In the ectodermal cases, there were severe orthodontically provoked resorptions on the teeth that appeared to be permanent but were possibly primary. In the third case, there was heavy resorption on permanent teeth due to orthodontic treatment. Discussion: The orthodontist should be aware that aggressive resorption can occur in cases not diagnosed with ectodermal dysplasia but with signs of ectodermal deviations, and that tooth morphology, hair, and skin are important to observe before proceeding with treatment.
The effect of trochlear dysplasia on patellofemoral biomechanics: a cadaveric study with simulated trochlear deformities.

Science.gov (United States)

Van Haver, Annemieke; De Roo, Karel; De Beule, Matthieu; Labey, Luc; De Baets, Patrick; Dejour, David; Claessens, Tom; Verdonk, Peter

2015-06-01

Trochlear dysplasia appears in different geometrical variations. The Dejour classification is widely used to grade the severity of trochlear dysplasia and to decide on treatment. To investigate the effect of trochlear dysplasia on patellofemoral biomechanics and to determine if different types of trochlear dysplasia have different effects on patellofemoral biomechanics. Controlled laboratory study. Trochlear dysplasia was simulated in 4 cadaveric knees by replacing the native cadaveric trochlea with different types of custom-made trochlear implants, manufactured with 3-dimensional printing. For each knee, 5 trochlear implants were designed: 1 implant simulated the native trochlea (control condition), and 4 implants simulated 4 types of trochlear dysplasia. The knees were subjected to 3 biomechanical tests: a squat simulation, an open chain extension simulation, and a patellar stability test. The patellofemoral kinematics, contact area, contact pressure, and stability were compared between the control condition (replica implants) and the trochlear dysplastic condition and among the subgroups of trochlear dysplasia. The patellofemoral joint in the trochlear dysplastic group showed increased internal rotation, lateral tilt, and lateral translation; increased contact pressures; decreased contact areas; and decreased stability when compared with the control group. Within the trochlear dysplastic group, the implants graded as Dejour type D showed the largest deviations for the kinematical parameters, and the implants graded as Dejour types B and D showed the largest deviations for the patellofemoral contact areas and pressures. Patellofemoral kinematics, contact area, contact pressure, and stability are significantly affected by trochlear dysplasia. Of all types of trochlear dysplasia, the models characterized with a pronounced trochlear bump showed the largest deviations in patellofemoral biomechanics. Investigating the relationship between the shape of the trochlea and
Expression of Bcl-2 and Bax in extrahepatic biliary tract carcinoma and dysplasia

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Li, Sheng-Mian; Yao, Shu-Kun; Yamamura, Nobuyoshi; Nakamura, Toshitsugu

2003-01-01

AIM: To compare the difference of expression of Bcl-2 and Bax in extrahepatic biliary tract carcinoma and dysplasia, and to analyze the role of Bcl-2 and Bax proteins in the progression from dysplasia to carcinoma and to evaluate the correlation of Bcl-2/Bax protein expression with the biological behaviors. METHODS: Expressions of Bcl-2 and Bax were examined immunohistochemically in 27 cases of extrahepatic biliary tract carcinomas (bile duct carcinoma: n = 21, carcinoma of ampulla of Vater: n = 6), and 10 cases of atypical dysplasia. Five cases of normal biliary epithelial tissues were used as controls. A semiquantitative scoring system was used to assess the Bcl-2 and Bax reactivity. RESULTS: The expression of Bcl-2 was observed in 10 out of 27 (37.0%) invasive carcinomas, 1 out of 10 dysplasias, none out of 5 normal epithelial tissues. Bax expression rate was 74.1% (20/27) in invasive carcinoma, 30% (3/10) in dysplasia, and 40% (2/5) in normal biliary epithelium. Bcl-2 and Bax activities were more intense in carcinoma than in dysplasia, with no significant difference in Bcl-2 expression (P = 0.110), and significant difference in Bax expression (P = 0.038). Level of Bax expression was higher in invasive carcinoma than in dysplasia and normal tissue (P = 0.012). Bcl-2 expression was correlated to Bax expression (P = 0.0059). However, Bcl-2/Bax expression had no correlation with histological subtype, grade of differentiation, or level of invasion. CONCLUSION: Increased Bcl-2/Bax expression from dysplasia to invasive tumors supports the view that this is the usual route for the development of extrahepatic biliary tract carcinoma. Bcl-2/Bax may be involved, at least in part, in the apoptotic activity in extrahepatic biliary carcinoma. PMID:14606101
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.

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Adaimy, Lynn; Chouery, Eliane; Megarbane, Hala; Mroueh, Salman; Delague, Valerie; Nicolas, Elsa; Belguith, Hanen; de Mazancourt, Philippe; Megarbane, Andre

2007-10-01

Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. We studied three consanguineous Lebanese Muslim Shiite families that included six individuals affected with odonto-onycho-dermal dysplasia. Using a homozygosity-mapping strategy, we assigned the disease locus to an ~9-cM region at chromosome 2q35-q36.2, located between markers rs16853834 and D2S353, with a maximum multipoint LOD score of 5.7. Screening of candidate genes in this region led us to identify the same c.697G-->T (p.Glu233X) homozygous nonsense mutation in exon 3 of the WNT10A gene in all patients. At the protein level, the mutation is predicted to result in a premature truncated protein of 232 aa instead of 417 aa. This is the first report to our knowledge of a human phenotype resulting from a mutation in WNT10A, and it is the first demonstration of an ectodermal dysplasia caused by an altered WNT signaling pathway, expanding the list of WNT-related diseases.
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.

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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.
Massive gastrointestinal bleeding:An unusual case of asymptomatic extrarenal,visceral,fibromuscular dysplasia

Institute of Scientific and Technical Information of China (English)

无

2007-01-01

Extrarenal fibromuscular dysplasia causing gastrointestinal bleeding without other manifestations and especially sparing renal vasculature is uncommon. The diagnosis of this entity is usually made by radiographic appearance and the treatment is controversial. To our knowledge only seven cases of visceral fibromuscular dysplasia as a primary manifestation of the disease have been described, symptoms range from abdominal pain to gangrene. This is the first case of visceral fibromuscular dysplasia presenting with otherwise asymptomatic gastrointestinal bleeding, without bowel necrosis or ischemic changes. We provide a review of the literature.
Craniofacial features of cleidocranial dysplasia

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Chin-Yun Pan

2017-12-01

Full Text Available Cleidocranial dysplasia (CCD is an autosomal-dominant malformation syndrome affecting bones and teeth. The most common skeletal and dental abnormalities in affected individuals are hypoplastic/aplastic clavicles, open fontanelles, short stature, retention of primary teeth, delayed eruption of permanent teeth, supernumerary teeth, and multiple impacted teeth. Treatment of CCD requires a multidisciplinary approach that may include dental corrections, orthognathic surgery and cranioplasty along with management of any complications of CCD. Early diagnosis of this condition enables application of the treatment strategy that provides the best quality of life to such patients. Notably, Runx2 gene mutations have been identified in CCD patients. Therefore, further elucidation of the molecular mechanism of supernumerary teeth formation related to Runx2 mutations may improve understanding of dental development in CCD. The insights into CCD pathogenesis may assist in the development of new treatments for CCD. Keywords: cleidocranial dysplasia, mutation, Runx2, supernumerary teeth
Septo-optic dysplasia with pachygyria

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Abhay A Lune

2014-01-01

Full Text Available Optic nerve hypoplasia can be associated with other central nervous system malformations. When associated with the absence of the septum pellucidum or thinning of corpus callosum and pituitary hypoplasia, it is termed septo-optic dysplasia. Pachygyria is a rare congenital disorder characterized by a defect in migration of cerebral neurons resulting in failure of cortical gyri to develop.We report a case of a young learning-disabled male presenting with decreased vision, nystagmus, esotropia,, and seizures since childhood. Fundoscopy revealed bilateral optic nerve hypoplasia. Growth hormone levels were reduced. Magnetic resonance imaging revealed thinned optic nerves, optic chiasma and pituitary infundibulum, absent septum pellucidum, box-shaped ventricles and right frontal cortical thickening with few and broad gyri.This case report highlights a rare case of septo-optic dysplasia with pachygyria. It also emphasizes that every patient with optic nerve hypoplasia should have an endocrinal and neurological evaluation and neuro-radiographic imaging for associated abnormalities.
Mutations in FLNB cause boomerang dysplasia.

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Bicknell, L S; Morgan, T; Bonafé, L; Wessels, M W; Bialer, M G; Willems, P J; Cohn, D H; Krakow, D; Robertson, S P

2005-07-01

Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia, characterised by absence or underossification of the limb bones and vertebrae. The BD phenotype is similar to a group of disorders including atelosteogenesis I, atelosteogenesis III, and dominantly inherited Larsen syndrome that we have recently shown to be associated with mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B. We report the identification of mutations in FLNB in two unrelated individuals with boomerang dysplasia. The resultant substitutions, L171R and S235P, lie within the calponin homology 2 region of the actin binding domain of filamin B and occur at sites that are evolutionarily well conserved. These findings expand the phenotypic spectrum resulting from mutations in FLNB and underline the central role this protein plays during skeletogenesis in humans.
Cone-beam computed tomography: An inevitable investigation in cleidocranial dysplasia

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Nandita S Gupta

2015-01-01

Full Text Available Cleidocranial dysplasia is a heritable skeletal dysplasia and one of the most common features of this syndrome is multiple impacted supernumerary teeth. Cone-beam computed tomography, the most recent advancement in maxillofacial imaging, provides the clinician to view the morphology of the skull and the dentition in all three dimensions and help in treatment planning for the patient.
REHABILITASI PASIEN GIGI TIRUAN PENUH DENGAN EKTODERMAL DYSPLASIA (LAPORAN KASUS

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Susi R. Puspita Dewi

2015-07-01

Full Text Available Ectodermal dysplasia is a rare congenital disease that affects several ectodermal structures. This disease is usually transmitted as an x-linked recessive trait in which the gene is carried by female and manifested in male. The orofacial characteristics of ectodermal dysplasia include anodontia or hypodontia, congenital teeth, underdevelopment of alveolar ridges and it is not uncommon for the face of an affected child to take on the appearance characteristic of old age, a prominent forehead, protuberant lips, a depressed nasal bridge, hypotricosis, and hypohidrosis. The treatment to manage orogacial disfigurement may afford the patient some measure of confidence, esthetics, function and speech. This case report describes the diagnosis and treatment of ectodermal dysplasia in an 18 year patient. The treatment included removable complete denture.
Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome.

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Hou, Yikang; Jin, Yunbo; Lin, Xiaoxi; Chai, Gang; Zhang, Yan; Qi, Zuoliang

2017-06-01

Ectodermal dysplasia syndrome is a hereditary disease of ectodermal origin. Appearances of nail dystrophy, alopecia or hypotrichosis, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well as partial or complete absence of teeth. These manifestations are usually corrected only with oral rehabilitation by mounting dentures. In this study, plastic rehabilitation was developed to correct the special features of patients with ectodermal dysplasia. Four men and 1 woman with ectodermal dysplasia syndrome were treated. Four patients showed dysostosis of the midface, and rhinoplasty with costal bone was performed, whereas cosmetic operation aiming to repair soft tissue defects was adopted for the last patient. After plastic corrections, all 5 patients were satisfied with the results and had no social embarrassment.
Medical and endoscopic management of high-grade dysplasia in Barrett's esophagus

NARCIS (Netherlands)

Wang, K. K.; Tian, J. M.; Gorospe, E.; Penfield, J.; Prasad, G.; Goddard, T.; WongKeeSong, M.; Buttar, N. S.; Lutzke, L.; Krishnadath, S.

2012-01-01

The management of high-grade dysplasia in Barrett's esophagus has clearly changed over recent years. The risk of cancer development is still substantial, with about one in three patients developing cancer, but a number of patients do not develop cancer. The nature of high-grade dysplasia has also

Radiographic Prevalence of Dysplasia, Cam, and Pincer Deformities in Elite Ballet.

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Harris, Joshua D; Gerrie, Brayden J; Varner, Kevin E; Lintner, David M; McCulloch, Patrick C

2016-01-01

The demands of hip strength and motion in ballet are high. Hip disorders, such as cam and pincer deformities or dysplasia, may affect dance performance. However, the prevalence of these radiographic findings is unknown. To determine the prevalence of radiographic cam and pincer deformities, borderline dysplasia, and dysplasia in a professional ballet company. Cross-sectional study; Level of evidence, 3. An institutional review board-approved cross-sectional investigation of a professional ballet company was undertaken. Male and female adult dancers were eligible for inclusion. Four plain radiographs were obtained (standing anteroposterior pelvis, bilateral false profile, and supine Dunn 45°) and verified for adequacy. Cam and pincer deformities, dysplasia, borderline dysplasia, and osteoarthritis were defined. All plain radiographic parameters were measured and analyzed on available radiographs. Student t test, chi-square test (and Fisher exact test), and Spearman correlation analyses were performed to compare sexes, groups, and the effect of select radiographic criteria. A total of 47 dancers were analyzed (21 males, 26 females; mean age (±SD), 23.8 ± 5.4 years). Cam deformity was identified in 25.5% (24/94) of hips and 31.9% (15/47) of subjects, with a significantly greater prevalence in male dancers than females (48% hips and 57% subjects vs 8% hips and 12% subjects; P ballet company, a high prevalence of radiographic abnormalities was found, including cam and pincer deformity and dysplasia. The results also revealed several sex-related differences of these abnormalities in this unique population. The long-term implications of these findings in this group of elite athletes remain unknown, and this issue warrants future investigation. © 2015 The Author(s).
Immunohistochemical Analysis of Oral Dysplasia: Diagnostic Assessment by Fascin and Podoplanin Expression

International Nuclear Information System (INIS)

Shimamura, Yumiko; Abe, Takahiro; Nakahira, Mitsuhiko; Yoda, Tetsuya; Murata, Shin-ichi; Sugasawa, Masashi

2011-01-01

The aim of this study was to investigate fascin and podoplanin expression in oral dysplasia and carcinoma in situ (CIS) immunohistochemically, and to evaluate their relationship to histopathological diagnosis based on architectural and cytological features. Fascin and podoplanin expression patterns were analyzed immunohistologically in 26 specimens of oral lesions, including benign disease (hyperplasia, papilloma, and others), intraepithelial neoplasia/borderline disease (dysplasia), and malignant disease (CIS, invasive squamous cell carcinoma). Fascin expression was scored into four original categories, and podoplanin expression was scored into five previously established categories. The relationship between the immunohistochemically determined scores of fascin and podoplanin expression and the architectural and cytological features in the hematoxylin-eosin-stained slides was analyzed statistically. The immunostaining scores for fascin and podoplanin were significantly higher in dysplasia and CIS than in benign disease (p=0.0011, p=0.00036), and they were significantly higher in dysplasia than in benign disease (p=0.0087, p=0.0032). In all cases of invasive SCC, fascin was expressed mainly in the cytoplasm of the tumor cells and fascin expression extended from the destruction of the basal layer of the epithelium to the upper layer of the epithelium and podoplanin was expressed in the cytoplasm and membrane of the tumor cells. This was the first report of up-regulation of fascin in oral dysplasia. Our results suggest that it would be helpful for improving the diagnostic accuracy of oral dysplasia and CIS to assess the expression of fascin and podoplanin immunohistochemically
Adult-onset Rasmussen encephalitis associated with focal cortical dysplasia.

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Hohenbichler, Katharina; Lelotte, Julie; Lhommel, Renaud; Tahry, Riëm El; Vrielynck, Pascal; Santos, Susana Ferrao

2017-12-01

Rasmussen encephalitis is a rare, devastating condition, typically presenting in childhood. Cases of adult-onset Rasmussen have also been described, but the clinical picture is less defined, rendering final diagnosis difficult. We present a case of adult-onset Rasmussen encephalitis with dual pathology, associated with focal cortical dysplasia and encephalitis. We interpreted the Rasmussen encephalitis to be caused by severe and continuous epileptic activity due to focal cortical dysplasia. The best therapeutic approach for such cases remains unclear.
Radiological analysis of polyostotic fibrous dysplasia in skeletal system

International Nuclear Information System (INIS)

Shin, Ma Rie; Kim, Jin Sik; Kim, Han Suk; Park, Soo Soung

1984-01-01

Over a period of recent 3 years, the 5 cases of polyostotic fibrous dysplasia were proven histologically at National Medical Center, and they were evaluated and analyzed radiologically and clinically. The results were as follows: 1. The age of 5 patients ranged from 12 to 21. 2. In general, clinical symptoms of these patients were pain of affected sites and swelling , fracture, walking disturbance of lower extremities. 3. The order of frequent site of polyostotic fibrous dysplasia was skull (4 cases), femur (3 cases), maxilla (2 case), humerus, tibia, rib, radius, metacarpal bone and phalanx. 4. The characteristic radiological findings of polyostotic fibrous dysplasia were multicystic lesions with ground glass appearance, osteosclerosis, cortical thinning and pathologic fracture and deformity of long bones. Particularly, in the extremities, multicystic radiolucencies, groud glass appearance, shepherd's crook and coxa vara deformities were noticed, and in the skull and maxilla, sclerotic changes were principally demonstrated.
KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia

KAUST Repository

Shamseldin, Hanan E.; Khalifa, Ola; Binamer, Yousef M.; Almutawa, Abdulmonem; Arold, Stefan T.; Zaidan, Hamad; Alkuraya, Fowzan S.

2016-01-01

Ectodermal dysplasia is a highly heterogeneous group of disorders that variably affect the derivatives of the ectoderm, primarily skin, hair, nails and teeth. TP63, itself mutated in ectodermal dysplasia, links many other ectodermal dysplasia
Radial head button holing: a cause of irreducible anterior radial head dislocation

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Shin, Su-Mi; Chai, Jee Won; You, Ja Yeon; Park, Jina [Seoul National University Seoul Metropolitan Government Boramae Medical Center, Department of Radiology, Seoul (Korea, Republic of); Bae, Kee Jeong [Seoul National University Seoul Metropolitan Government Boramae Medical Center, Department of Orthopedic Surgery, Seoul (Korea, Republic of)

2016-10-15

''Buttonholing'' of the radial head through the anterior joint capsule is a known cause of irreducible anterior radial head dislocation associated with Monteggia injuries in pediatric patients. To the best of our knowledge, no report has described an injury consisting of buttonholing of the radial head through the annular ligament and a simultaneous radial head fracture in an adolescent. In the present case, the radiographic findings were a radial head fracture with anterior dislocation and lack of the anterior fat pad sign. Magnetic resonance imaging (MRI) clearly demonstrated anterior dislocation of the fractured radial head through the torn annular ligament. The anterior joint capsule and proximal portion of the annular ligament were interposed between the radial head and capitellum, preventing closed reduction of the radial head. Familiarity with this condition and imaging findings will aid clinicians to make a proper diagnosis and fast decision to perform an open reduction. (orig.)
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.
Recurring fibrous dysplasia of anthro maxillary with cranial base invasion

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Sousa, Kátia Maria Marabuco de

2009-09-01

Full Text Available Introduction: Fibrous dysplasia is an osseous lesion with an unknown etiology. It is characterized by the osseous maturation insufficiency. It may affect any bone, but the affection of craniofacial bones is the most critical for otorhinolaryngology. Maxilla is the most affected facial bone and the orbitary invasion is an uncommon event. The symptoms are unspecific and for its low suspicion and uncommonness, the diagnosis is generally late. The monostotic form presents a slow growth and asymptomatic course and needs to be followed up. The polyostotic type has a progressive behavior and is associated to recurrence and complications. Objective: To present two cases of patients with fibrous dysplasia diagnosis and describe the clinical presentation, radiological findings and the treatment of this pathology. Cases Report: Two cases of fibrous dysplasia are reported, which initially presented unspecific symptomatology, but with characteristic radiologic signs. They were submitted to surgical treatment for resection of the lesions and evolved with frequent recurrences with extensive affection of the facial sinuses, one patient had cranial base invasion and frontal craniotomy was needed for tumoral excision. Final Comments: Fibrous dysplasia is an uncommon osteopathy. The tomography is the choice method for characterization of the tumoral expansion, and helps in the surgical planning. The surgical strategy is indicated for symptomatic lesions, functions alterations or anatomic disorders. This article describes two uncommon manifestations of recurrent fibrous dysplasia with an extensive affection of anthro maxillary, ethmoidal and sphenoid sinuses, in addition to orbitary and cranial base invasion.
Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development.

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Wahlbuhl-Becker, Mandy; Faschingbauer, Florian; Beckmann, Matthias W; Schneider, Holm

2017-04-01

Background X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia, is caused by mutations in the gene EDA. While only affected men develop the full-blown clinical picture, females who are heterozygous for an EDA mutation often also show symptoms such as hypodontia, hypotrichosis and hypohidrosis. These women may also suffer from malformations of the mammary gland which represent not just a cosmetic problem but can limit their breastfeeding capability. This paper summarizes the findings of the first systematic study on the impact of hypohidrotic ectodermal dysplasia on breastfeeding. Patients Thirty-eight adult female members of the German-Swiss-Austrian ectodermal dysplasia patient support group participated in a structured interview; most of them also agreed to a photodocumentation of their mammary region. Thirty-one women carried mutations in EDA (Group A) and seven were affected by other forms of hypohidrotic ectodermal dysplasia (Group B). Results 39 % of the women of Group A reported that their breasts were of different size or entirely absent on one side. In Group B, 86 % of the women reported differently sized or even absent breasts; two of these women lacked both breasts entirely. Most women described their nipples as exceptionally flat. 10 % of the women of Group A had more than two nipples. The high percentage of deviations from the norm was confirmed in the photodocumentation. Both groups had few or no sebaceous glands of Montgomery in the areolar region. Around 80 % of interviewed women had children and had attempted to breastfeed their first child. 67 % of the mothers in Group A had had difficulty in breastfeeding their infants and generally attributed this difficulty to their flat nipples. All of the mothers in Group B reported difficulties in breastfeeding; 60 % had not been able to breastfeed their first child. Conclusion Mothers with hypohidrotic ectodermal dysplasia very often have difficulty
Bizarre cell dysplasia of the cervix.

Science.gov (United States)

Ondič, Ondrej; Ferko, Radoslav; Kašpírková, Jana; Švajdler, Marián; Rýchly, Boris; Talarčík, Peter; Bouda, Jiří; Michal, Michal

2017-02-01

The aim of this study was the characterization of a new subtype of high-grade cervical squamous intraepithelial lesion (HSIL) with enlarged cells containing bizarre nuclei: so-called bizarre cell dysplasia (BCD). A total of 29 cervical cone biopsy samples of this type of dysplasia were studied. Multi-target polymerase chain reaction and in situ hybridization human papillomavirus (HPV) detection was performed in all cases. BCD was defined as a subtype of HSIL characterized by the presence of large dysplastic cells with abnormal, large pleomorphic nuclei or multinucleation causing nucleomegaly. This results in bizarre nuclear shapes. Bizarre cells are scattered throughout the whole thickness of the dysplastic squamous epithelium. The BCD lesions arise within the conventional/classic high grade or "bland" type squamous dysplasia HSIL. Statistically they were significantly associated with HVP type 16. A significant association with other studied viruses (Herpes simplex virus [HSV]1, HSV2, Varicella zoster virus, Epstein-Barr virus, cytomegalovirus, human herpesvirus 6, and human polyomaviruses BK and JC) was not confirmed. BCD involves cytologically characteristic morphologic changes that are recognizable, but which may pose some risk of misdiagnosis as low-grade squamous intraepithelial lesion due to the enlargement of dysplastic cells and multinucleation. Based on the unique histological, cytological and biological features of BCD including strong association with HPV 16 infection, we believe that this is a specific, and so far unrecognized variant of HSIL. © 2017 Japan Society of Obstetrics and Gynecology.
Poly-epiphyseal overgrowth: description of a previously unreported skeletal dysplasia

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Pazzaglia, Ugo E.; Bonaspetti, Giovanni [University of Brescia, Orthopaedic Clinic, Brescia (Italy); Beluffi, Giampiero [Fondazione IRCCS Policlinico San Matteo, Department of Paediatric Radiology, Pavia (Italy); Marchi, Antonietta; Bozzola, Mauro; Savasta, Salvatore [Fondazione IRCCS Policlinico San Matteo, Paediatric Clinic, University of Pavia, Pavia (Italy)

2007-10-15

A skeletal dysplasia with previously unreported features is presented. Its evolution was characterized by growth abnormalities of bones without involvement of other organs. Advanced bone age, increased stature and irregular epiphyseal ossification with stippling of the main long bones were documented. Physeal overgrowth was massive in the left proximal humerus and femur. Furthermore, the hip joint appeared fused with an abundant mass of pathological calcific tissue extending from the femur to the ilium. Pathological epiphyses were characterized by anarchic cartilaginous proliferation with multiple ossification centres, while lamellar bone apposition and remodelling were normal. The observed bone changes were different from those in any previously reported syndrome, metabolic defect or bone dysplasia. However, they clearly indicated a defect of endochondral ossification with some resemblance to phenotypes observed in dysplasia epiphysealis hemimelica. (orig.)
Poly-epiphyseal overgrowth: description of a previously unreported skeletal dysplasia

International Nuclear Information System (INIS)

Pazzaglia, Ugo E.; Bonaspetti, Giovanni; Beluffi, Giampiero; Marchi, Antonietta; Bozzola, Mauro; Savasta, Salvatore

2007-01-01

A skeletal dysplasia with previously unreported features is presented. Its evolution was characterized by growth abnormalities of bones without involvement of other organs. Advanced bone age, increased stature and irregular epiphyseal ossification with stippling of the main long bones were documented. Physeal overgrowth was massive in the left proximal humerus and femur. Furthermore, the hip joint appeared fused with an abundant mass of pathological calcific tissue extending from the femur to the ilium. Pathological epiphyses were characterized by anarchic cartilaginous proliferation with multiple ossification centres, while lamellar bone apposition and remodelling were normal. The observed bone changes were different from those in any previously reported syndrome, metabolic defect or bone dysplasia. However, they clearly indicated a defect of endochondral ossification with some resemblance to phenotypes observed in dysplasia epiphysealis hemimelica. (orig.)
Autosomal recessive anhidrotic ectodermal dysplasia: A rare entity

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Sangita Ghosh

2014-01-01

Full Text Available We describe a case of anhidrotic ectodermal dysplasia (AED with an autosomal recessive mode of inheritance, a very rare entity, in a 2-year-old female child of two asymptomatic, consanguineous parents. Their previous child also had a similar condition. Autosomal recessive AED (AR-AED can have its full expression both in males and females and it is clinically indistinguishable from the x-linked recessive AED (XL-AED, which is the most common type of ectodermal dysplasia. Unlike the partially symptomatic carriers of XL-AED, the heterozygotes of AR-AED are phenotypically asymptomatic.
Hip Dysplasia: Clinical Signs and Physical Examination Findings.

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Syrcle, Jason

2017-07-01

Hip dysplasia is a common developmental disorder of the dog, consisting of varying degrees of hip laxity, progressive remodeling of the structures of the hip, and subsequent development of osteoarthritis. It is a juvenile-onset condition, with clinical signs often first evident at 4 to 12 months of age. A tentative diagnosis of hip dysplasia can be made based on signalment, history, and physical examination findings. The Ortolani test is a valuable tool for identifying juvenile dogs affected with this condition. Further diagnostics can then be prioritized, contributing to prompt diagnosis and appropriate treatment. Copyright © 2017 Elsevier Inc. All rights reserved.
The Diagnostic importance of clinical and radiologic features of the Multiple Cemento-osseous dysplasia

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Han, M. R.; Kim, Y. H.; Kang, B. C.

1998-01-01

This case was diagnosed as multiple cementoosseous dysplasia on the basis of clinical and radiological features but was diagnosed as ossifying fibroma on the basis of histopathological feature. The histopathologic features of the multiple cementoosseous dysplasia and cementoossifying fibroma have common features of cementum, fibrous network and bone. Multiple cementoosseous dysplasia is reactive lesion and shows restricted lesion size, occurred on anterior and posterior tooth of the mandible and needs no treatment except periodic follow up. But Cementoossifying fibroma is the true neoplasm and grows continuously and needs surgical removal. The final diagnosis of the multiple cementoosseous dysplasia requires good correlation of the clinical histopathological, and radiological features.
Dental Management of Ectodermal Dysplasia: Two Clinical Case Reports

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Somayeh Hekmatfar

2012-06-01

Full Text Available Ectodermal dysplasia is a hereditary disorder associated with abnormal development of embryonic ectodermally-derived organs including teeth, nails, hair and sweat glands. Hypodontia of the primary and permanent dentition is the most common oral finding. Therefore, affected patients need dental prosthetic treatments during their developmental years. This report presents two cases of children affected by ectodermal dysplasia with anodontia. Oral rehabilitation was accomplished with removable acrylic prostheses. Treatment had major impacts on self-esteem, masticatory function, speech and facial esthetic.
FUNCTIONAL ASSESSMENT OF RESPIRATORY DISORDERS IN CHILDREN WITH BRONCHOPULMONARY DYSPLASIA DURING FOLLOW-UP

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I. V. Davydova

2014-01-01

Full Text Available Background. Capabilities of assessing functional condition of the respiratory system in young children, including patients with bronchopulmonary dysplasia, are extremely limited, as little children do not cooperate with doctors in the course of diagnostic procedures. Results of use of a modern instrumental diagnostic method in this group of patients is of doubtless interest. The study was aimed at tracking changes in functional condition of the respiratory system in children with bronchopulmonary dysplasia during follow-up. Methods. Quite breathing flowmetry during natural sleep. Results. The article presents the authors’ data obtained by means of analyzing external respiratory function in children with bronchopulmonary dysplasia using a modern method of quiet breathing flowmetry; it is also reasonable to use relative parameters of the external respiratory function as diagnostic criteria of bronchoobstructive syndrome at bronchopulmonary dysplasia and criteria of effectiveness of N-acetylcysteine mucolytic therapy. Conclusion. Quiet breathing flowmetry may be used to diagnose bronchoobstructive syndrome and assess effectiveness of the treatment thereof in children with bronchopulmonary dysplasia.
Prosthodontic management of anhidrotic ectodermal dysplasia

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Shilpy Gupta

2011-01-01

Full Text Available Ectodermal dysplasia is characterized by the absence or defects of two or more ectodermally derived structures. Anodontia or hypodontia is the most striking dental manifestation. In severe hypodontia, there is lack of alveolar development with consequent protrusion and eversion of the lips. Patients with anhidrotic forms suffer from heat intolerance due to lack of sweat glands and mild infections may lead to death in infancy from hyperthermia. A case of a 4-year-old child with anhidrotic ectodermal dysplasia with partial anodontia is presented. Dental, oral, and physical features were taken into consideration in diagnosis and treatment planning for this patient. Clinical management consisted of removable partial prosthesis in maxillary arch and complete denture prosthesis in mandibular arch. The main aim of the treatment was to improve psychological development and to promote better functioning of the stomatognathic system.
Stability of radial and non-radial pulsation modes of massive ZAMS models

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Odell, A.P.; Pausenwein, A.; Weiss, W.W.; Hajek, A.

1987-01-01

The authors have computed non-adiabatic eigenvalues for radial and non-radial pulsation modes of star models between 80 and 120 M solar with composition of chi=0.70 and Z=0.02. The radial fundamental mode is unstable in models with mass greater than 95 M solar , but the first overtone mode is always stable. The non-radial modes are all stable for all models, but the iota=2 f-mode is the closest to being driven. The non-radial modes are progressively more stable with higher iota and with higher n (for both rho- and g-modes). Thus, their results indicate that radial pulsation limits the upper mass of a star
Simplified Classification of Focal Cortical Dysplasia

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J Gordon Millichap

2002-09-01

Full Text Available Sections of cortex from 52 of 224 (23% patients with cortical dysplasia, operated on for drug-resistant partial epilepsy, were retrospectively re-examined histologically at Niguarda Hospital, and Istituto Nazionale Neurologico ‘C. Besta’, Milan, Italy.

Elbow dysplasia in the dog : pathophysiology, diagnosis and control : review article

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R.M. Kirberger

1998-07-01

Full Text Available Elbow dysplasia is a non-specific term denoting abnormal development of the elbow. Elbow dysplasia encompasses the clinical and radiographic manifestation of ununited anconeal process, fragmented medial coronoid process, osteochondritis dissecans, erosive cartilage lesions and elbow incongruity. The net result is elbow arthrosis, which may be clinically inapparent or result in marked lameness. These conditions may be diagnosed by means of routine or special radiographic views and other imaging modalities, or the precise cause of the arthrosis or lameness may remain undetermined. Breeds most commonly affected are the rottweiler, Bernese mountain dog, Labrador and golden retriever and the German shepherd dog. Certain breeds are more susceptible to a particular form of elbow dysplasia and more than 1 component may occur simultaneously. The various conditions are thought to result from osteochondrosis of the articular or physeal cartilage that results in disparate growth of the radius and ulna. Heritability has been proven for this polygenic condition and screening programmes to select suitable breeding stock have been initiated in several countries and have decreased the incidence of elbow dysplasia.
FOXI2: a possible gene contributing to ectodermal dysplasia.

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Kurban, Mazen; Zeineddine, Savo Bou; Hamie, Lamiaa; Safi, Remi; Abbas, Ossama; Kibbi, Abdul Ghani; Bitar, Fadi; Nemer, Georges

2017-12-01

Cardio-facio-cutaneous syndrome (CFC), Noonan syndrome (NS), and Costello syndrome are a group of diseases that belong to the RASopathies. The syndromes share clinical features making diagnosis a challenge. To investigate the phenotype and genotype of a 10-year-old Iraqi girl with overlapping features of CFC, NS, and Costello syndromes, with additional features of ectodermal dysplasia. DNA was examined by exome sequencing and protein expression by immunohistochemistry. Exome sequencing identified a mutation in the SOS1 gene and a de novo deletion in the FOXI2 gene which was neither present in the international databases, nor in 400 chromosomes from the same population. Based on immunohistochemical staining, FOXI2 was identified in the basal cell layer of the skin and overlapped with the expression of P63, a major player in ectodermal dysplasia. We therefore suggest screening for FOXI2 mutation in the setting of ectodermal features that are not associated with genes known to contribute to ectodermal dysplasia.
Prosthodontic management of hypohidrotic ectodermal dysplasia: a case report

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Emilija Bajraktarova Valjakova

2015-09-01

Full Text Available Introduction: Ectodermal dysplasia (ED is a hereditary disorder associated with developmental disorders of two or more structures of ectodermal embryonic origin. Hypodontia or anodontia of the primary and permanent dentition, poorly developed alveolar ridges and improper maxillo – mandibular relations, are the most common oral manifestations. Management of patients with ectodermal dysplasia requires a multidisciplinary team approach. Case presentation: A 6.5 year-old boy with hypohidrotic ectodermal dysplasia (HED presented in this article, had typical features of HED: hypohidrosis, hypotrichosis, severe hypodontia, atrophic alveolar ridges, old-looking facial expression. According to the patient’s age and clinical findings, removable complete over-denture prosthesis in both arches was the treatment of choice. Conclusion: In patients with ED, it is important to establish correct maxillo – mandibular relations and normal function of the dento-facial system (chewing, swallowing, and speaking. Prosthodontic treatment has a major impact on aesthetics and functions,facilitates psychological development and improves emotional condition and social life of the patient.
Maxillectomy for Cementifying Osseous Dysplasia of the Maxilla: A Case Report.

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Akbulut, Sevtap; Demir, Mehmet Gokhan; Basak, Kayhan; Paksoy, Mustafa

2015-01-01

Osseous dysplasias are the most common subtype of fibro-osseous lesions of the maxillofacial bones. They are benign and often present as incidental asymptomatic lesions. Diagnosis can be made with clinical and radiographic examination. This article reports the case of a 47-year-old man with a huge cementifying osseous dysplasia of the maxilla that presented with secondary infection after teeth extraction and repair of oroantral fistula. A subtotal maxillectomy had to be done after conservative treatment failed to resolve the infection. Biopsy, tooth extraction or surgical trauma to the affected bones of osseous dysplasia could easily lead to severe secondary infection, the treatment of which may be very difficult, and thus should be avoided if possible.
Fibrous dysplasia: rapid malignant transformation into osteogenic sarcoma - A rare occurance

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S Gon

2012-09-01

Full Text Available Malignant transformation of fibrous dysplasia is rare, occurring in less than 1% of cases with a mean lag period of 13.5 years. We report a case of Osteogenic Sarcoma with chondroid differentiation in a pre-existing Fibrous Dysplasia occurring within one year of surgical resection and without any history of exposure to radiation. To the best of our knowledge and extensive search of literature, malignant transformation of Fibrous Dysplasia in such a short period of time, and without history of radiation exposure has never been reported from India.Journal of Pathology of Nepal (2012 Vol. 2, 335-337DOI: http://dx.doi.org/10.3126/jpn.v2i4.6891
A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

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Tiedemann Svendsen, Mathias; Henningsen, Emil; Hertz, Jens Michael; Vestergaard Grejsen, Dorthe; Bygum, Anette

2014-09-01

Ectodermal dysplasias form a complex, nosologic group of diseases with defects in at least 2 ectodermal structures. A retrospective study of patients with ectodermal dysplasia seen at our department over a period of 19 years (1994-2013) was performed. The study population consisted of 67 patients covering 17 different diagnoses. Forty-five families were identified of which 26 were sporadic cases with no affected family members. In 27 tested families a disease-causing mutation was identified in 23 families. Eleven mutations were novel mutations. To our knowledge, we present the first large ectodermal dysplasia cohort focusing on clinical manifestations in combination with mutational analysis. We recommend a nationwide study to estimate the prevalence of the ectodermal dysplasia and to ensure relevant molecular genetic testing which may form the basis of a national ectodermal dysplasia database.
Maxillo-nasal dysplasia (Binder syndrome) and associated malformations of the cervical spine

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Olow-Nordenram, M.A.K.; Raadberg, C.T.

1984-01-01

Forty-three patients with maxillo-nasal dysplasia have been subjected to a radiographic examination of the cervical spine. In 44.2 per cent malformations of the cervical vertebrae of a minor or major type were revealed. Dysplasia of the vertebral bodies related to persistence of the chorda dorsalis, a very rare malformation, was found in six cases. No correlation between the incidence or serverity of the malformations and the degree of malocclusion of the jaws and facial deformity, characteristic of Binder syndrome, were noted. The maxillo-nasal dysplasia and the spinal malformations probably have a common cause during the embryologic stage. (orig.)
Maxillo-nasal dysplasia (Binder syndrome) and associated malformations of the cervical spine

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Olow-Nordenram, M.A.K.; Raadberg, C.T.

1984-01-01

Forty-three patients with maxillo-nasal dysplasia have been subjected to a radiographic examination of the cervical spine. In 44.2 per cent malformations of the cervical vertebrae of a minor or major type were revealed. Dysplasia of the vertebral bodies related to persistence of the chorda dorsalis, a very rare malformation, was found in six cases. No correlation between the incidence or serverity of the malformations and the degree of malocclusion of the jaws and facial deformity, characteristic of Binder syndrome, were noted. The maxillo-nasal dysplasia and the spinal malformations probably have a common cause during the embryologic stage.
Prevalence and clinical characteristics of body dysmorphic disorder in an adult inpatient setting†

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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

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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.
Congenital heart defects in oculodentodigital dysplasia: Report of two cases.

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Izumi, Kosuke; Lippa, Andrew M; Wilkens, Alisha; Feret, Holly A; McDonald-McGinn, Donna M; Zackai, Elaine H

2013-12-01

Oculodentodigital dysplasia is caused by mutations in the GJA1 gene. Oculodentodigital dysplasia presents with a spectrum of clinical features including craniofacial, ocular, dental, and limb anomalies. Although recent findings implicate the major role of GJA1 during cardiac organogenesis, congenital heart defects are infrequently reported in oculodentodigital dysplasia. Here we report on two patients with GJA1 mutations presenting with cardiac malformations and type III syndactyly. Patient 1 presented with pulmonary atresia, an intact septum, right ventricular hypoplasia and tricuspid stenosis. The infant had a small nose, thin columella and bilateral 4-5 syndactyly of the fingers. A de novo c.226C>T (p.Arg76Cys) mutation was identified. Patient 2 presented at 6 months with a ventricular septal defect. The child had hypoplastic alae nasi with a thin columella and bilateral 4-5 syndactyly of the digits. A de novo missense mutation, c.145C>G (p.Gln49Glu) was found. Our two patients underscore the importance of cardiac evaluations as part of the initial workup for patients with findings of oculodentodigital dysplasia. Conversely, those patients with type III syndactyly and congenital heart defect should be screened for GJA1 mutations. © 2013 Wiley Periodicals, Inc.
MRA of fibromuscular dysplasia in cervical vessels

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Link, J.; Steffens, J.C.; Mueller-Huelsbeck, S.; Brossmann, J.; Heller, M.

1996-01-01

In 386 selective angiograms of cervical vessels fibromuscular dysplasia was revealed in 4 female patients in the age of 30-54 years. FMD was located in the carotid artery (n=5) and in the vertebral artery (n=2) with a total of 8 lesions. 6/8 of the lesions of the seven cervical vessels were located typically in the mid cervical portion of the vessels and 2/6 lesions were located in the atlas loop of the vertebral artery. 4 lesions showed moderate stenosis and 4 vessels showed only mild stenosis. These patterns which demonstrated the typical morphology of fibromuscular dysplasia with alternating irregular zones of widening and narrowing were evaluated well with MR angiography, the others were missed. (orig./MG) [de
Identification of quantitative trait loci (QTL for canine hip dysplasia and canine elbow dysplasia in Bernese mountain dogs.

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Sophia Pfahler

Full Text Available A genome-wide association study for canine hip dysplasia (CHD and canine elbow dysplasia (CED using the Illumina canine high density bead chip had been performed for 174 Bernese mountain dogs. General and mixed linear model analysis identified two different regions with single nucleotide polymorphisms (SNPs on dog chromosome (CFA 14 significantly associated with CHD and a further significantly CHD-associated region on CFA37. For CED, four SNPs on CFA11 and 27 were significantly associated. The identified SNPs of four associated regions included nearby candidate genes. These possible positional candidates were the genes PON2 on CFA14 and FN1 on CFA37 for CHD and the genes LMNB1 on CFA11 and WNT10B on CFA27 for CED.
Osseous Dysplasia Accompanied by a Complex Odontoma in the Mandible

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N Jafari

2017-05-01

Full Text Available Introduction: Cement osseous dysplasia is the most common lesion of the family fibrous dysplasia which normal bone is replaced with fibrous tissue and several mineralized material. These lesions may be seen in association with various lesions. Companionship of this lesion with odontoma has been reported rarely. Case report: A 44-year-old female in one year ago has admitted to Shahid Sadoughi Faculty of Dentistry Yazd for treatment of mandibular left third molar. In panoramic radiography in the mandibular left first molar region, a mixed lesion of radiolucent-radiopaque with a corticated borderwas seen. Small swelling was observed in this area. Microscopically, the diagnosis of osseous dysplasia with odontoma for the lesion was confirmed. Conclusion: The reason of companionship of cement osseous lesions whit other lesions is not completely clear and it requires further evaluation.
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
Co-occurence of florid cemento-osseous dysplasia and simple bone cyst: a case report.

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Rao, Kumuda Arvind; Shetty, Shishir Ram; Babu, Subhas G; Castelino, Renita Lorina

2011-01-01

The purpose of this report is to present a rare case of co-occurrence of florid cemento-osseous dysplasia with simple bone cyst in a middle aged Asian woman. Most of the reported cases are isolated cases of simple bone cyst or florid cemento-osseous dysplasia, but co-occurrence of these two entities is extremely rare. The authors report a 41 year old female patient with co-occurrence of mandibular florid cemento-osseous dysplasia with simple bone cyst. A thorough clinical and radiological examination was carried out. It was diagnosed mandibular cyst with possible co-occurrence of florid cemento-osseous dysplasia. Surgical exploration of the multilocular lesion was applied. Since, the patient was symptomatic at the time of presentation utmost caution was taken during the surgical procedure as florid cemento-osseous dysplasia is associated with hypo-vascularity of the affected bone. Based on histopathological, as well as supporting clinico-radiological findings a confirmative diagnosis of florid cemento-osseous dysplasia co-occurring with simple bone cyst was made. Patient was followed-up for a period of six months and was reported to be asymptomatic. Timely diagnosis and well planned treatment is important to obtain a good prognosis when a rare co-occurrence of two or more bone lesions affects the jaws.
Ceramide profile in hypohidrotic ectodermal dysplasia

DEFF Research Database (Denmark)

Jungersted, J. M.; Høgh, Julie Kaae; Hellgren, Lars

2012-01-01

Background. Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disease. The clinical presentation includes lack of sweating ability, and an often widely spread dermatitis resembling atopic dermatitis (AD). In AD, the skin‐barrier defect is partly ascribed to the altered lipid profile...
p53 expression and mutation analysis of odontogenic cysts with and without dysplasia.

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Cox, Darren P

2012-01-01

Overexpression of p53 protein is well described in odontogenic cystic lesions (OCLs), including those with epithelial dysplasia; however, most p53 antibodies stain both wild-type and mutated p53 protein and may not reflect genotype. Direct sequencing of the p53 gene has not identified mutations in OCLs with dysplasia. The purpose of this study was to determine the molecular basis of p53 expression in several types of OCLs with and without dysplasia. The study material comprised 13 OCLs: odontogenic keratocyst (n = 5), orthokeratinized odontogenic cyst (n = 5), dentigerous cyst (n = 2), lateral periodontal cyst (n = 1), and unspecified developmental odontogenic cyst (UDOC) (n = 1). Five of these had features of mild or moderate epithelial dysplasia. One intraosseous squamous cell carcinoma (SCC) that was believed to have arisen from an antecedent dysplastic orthokeratinized OC was also included. Immunohistochemistry was performed using the DO7 monoclonal antibody that recognizes wild-type and mutated p53. DNA was extracted from microdissected tissue for all samples and exons 4 to 8 of the p53 gene direct sequenced. In 4 of 5 OCLs with dysplasia there was strong nuclear staining of basal and suprabasal cells. In all cases without dysplasia, nuclear expression in basal cells was either negative or weak and was absent in suprabasal cell nuclei. A mutation in exon 6 of the p53 gene (E224D) was identified in both the dysplastic orthokeratinized OC and the subsequent intraosseous SCC. OCLs with features of dysplasia show increased expression of p53 protein that does not reflect p53 mutational status. One dysplastic OC shared the same p53 mutation with a subsequent intraosseous SCC, indicating that p53 mutation may be associated with malignant transformation in this case. Copyright © 2012 Elsevier Inc. All rights reserved.
Maxillectomy for Cementifying Osseous Dysplasia of the Maxilla: A Case Report

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Sevtap Akbulut

2015-07-01

Full Text Available Objectives: Osseous dysplasias are the most common subtype of fibro-osseous lesions of the maxillofacial bones. They are benign and often present as incidental asymptomatic lesions. Diagnosis can be made with clinical and radiographic examination. Case report: This article reports the case of a 47-year-old man with a huge cementifying osseous dysplasia of the maxilla that presented with secondary infection after teeth extraction and repair of oroantral fistula. A subtotal maxillectomy had to be done after conservative treatment failed to resolve the infection. Discussion/Conclusion: Biopsy, tooth extraction or surgical trauma to the affected bones of osseous dysplasia could easily lead to severe secondary infection, the treatment of which may be very difficult, and thus should be avoided if possible.
Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.

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Woods, C G; Rogers, J G; Mayne, V

1994-01-01

We report a family in which two sibs have both achondroplasia and pseudoachondroplastic dysplasia. The mother has achondroplasia and the father has pseudoachondroplastic dysplasia, which he had inherited from his father. Both children appeared typical of achondroplasia at birth. By 1 1/2 years they had developed a fixed lumbar kyphosis with gibbus and had additional x ray changes unusual for just achondroplasia and suggestive of pseudoachondroplastic dysplasia. Subsequently both children have shown characteristic features of both conditions and have grown less well than expected for achondroplasia. Radiographs show the striking synergistic effects of the two conditions. MRI in both sibs confirmed brain stem compression at the foramen magnum. This may be an important complication and should be actively sought in any double heterozygote. Images PMID:7966194

Radiographic signs of acetabular dysplasia of the adult hip

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Lingg, G.; von Torklus, D.

1981-06-01

Many papers have been published about the different types of measurements used in the evaluation of hip dysplasia in the pediatric age group. However, there are no publications that deal with this topic regarding adults. The authors present an initial series of measurements of the angle of the roof of the acetabulum in 100 randomized asymptomatic adult males. The normal value ranged from -10/sup 0/ to +10/sup 0/. These measurements were correlated with those described by Wiberg. The combination of both methods yields highly reliable information in the evaluation of hip dysplasia.
Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population

OpenAIRE

Woo, Eun Jin; Lee, Won-Joon; Hu, Kyung-Seok; Hwang, Jae Joon

2015-01-01

Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and l...
Quality-of-Life Outcomes of Patients following Patellofemoral Stabilization Surgery: The Influence of Trochlear Dysplasia.

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Hiemstra, Laurie Anne; Kerslake, Sarah; Lafave, Mark R

2017-11-01

Trochlear dysplasia is a well-described risk factor for recurrent patellofemoral instability. Despite its clear association with the incidence of patellofemoral instability, it is unclear whether the presence of high-grade trochlear dysplasia influences clinical outcome after patellofemoral stabilization. The purpose of this study was to assess whether trochlear dysplasia influenced patient-reported, disease-specific outcomes in surgically treated patellar instability patients, when risk factors were addressed in accordance with the à la carte surgical approach to the treatment of patellofemoral instability. The study design is of a case series. A total of 318 patellar stabilization procedures were performed during the study period. Of these procedures, 260 had adequate lateral radiographs and complete Banff Patellar Instability Instrument (BPII) scores available for assessment. A Pearson r correlation was calculated between four characteristics of trochlear dysplasia, the BPII total and the BPII symptoms, and physical complaints scores, a mean of 24 months following patellofemoral stabilization. Independent t -tests were performed between stratified trochlear dysplasia groups (no/low grade and high grade) and all BPII measures. There was a statistically significant correlation between measures of trochlear dysplasia and quality-of-life physical symptoms scores, an average of 2 years following patellofemoral stabilization surgery. The BPII symptoms and physical complaints domain score, as well as the individual weakness and stiffness questions, correlated with the classification of trochlear dysplasia as well as the presence of a trochlear bump ( p patellofemoral stabilization surgery. There was a significant correlation between patient-reported physical symptoms after surgery and high-grade trochlear dysplasia. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
Therapist guided internet based cognitive behavioural therapy for body dysmorphic disorder: single blind randomised controlled trial.

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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
We can Diagnose it if we Consider it. Diagnostic Pitfall for Placenta: Placental Mesenchymal Dysplasia

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Havva Serap TORU

2018-01-01

Full Text Available Placental mesenchymal dysplasia is an increasingly recognizable abnormality. Early cases have been confused with partial hydatidiform mole. Placental mesenchymal dysplasia is probably under-diagnosed because of being an unfamiliar clinical entity and also mistaken for gestational trophoblastic disease due to the similar sonographic findings of two entities. In this report, we describe the clinical, gross, and histopathological findings of placental mesenchymal dysplasia in two cases. The 33-week-preterm baby of a 26-year-old woman with cardiovascular disease and 342 gram placenta and the 19-week fetus with trisomy 21 of a 40 year-old woman were terminated. Macroscopically thick-walled vessels and microscopically hydropic villous with peripherally localized thick-walled vessels without trophoblastic cell proliferation were observed in both cases. These two cases represent a rare placental anomaly that is benign but it is challenging to distinguish placental mesenchymal dysplasia from an incomplete mole. Placental mesenchymal dysplasia should be included in the differential diagnosis of sonographic findings that show a normal appearing fetus and a placenta with cystic lesions. Placental mesenchymal dysplasia is associated with pregnancy-related hypertension. In conclusion, the most important point is “you can diagnose it if you consider it”.
Narrowband image and the p53 protein immunoexpression in patients with ulcerative colitis and dysplasia

International Nuclear Information System (INIS)

Chao González, Lissette

2012-01-01

Patients with pancolitis and long-standing ulcerative colitis are at increased risk of developing colorectal cancer, so it is advisable to colonoscopic surveillance. The objective of this study was to identify the endoscopic visualization system of imaging with narrowband and overexpression of the p53 protein as procedures useful for the research of Dysplasia in patients with ulcerative colitis and pancolitis, of eight or more years of evolution. A prospective, descriptive study was performed on 50 patients. The Fisher exact probability test was used for the statistical study and of square Chi, with a level of significance α = 0.05. Shown with narrow-band image increases the likelihood of finding suggestive areas of Dysplasia, reduces the amount of biopsy and gets a higher proportion of diagnoses of Dysplasia in fewer samples (70.4%). The overexpression of the p53 protein was associated with the presence of dysplasia (80.0%) p < 0.001 and is immunoexpress in samples with a high degree of severity of dysplasia and the low grade. Concluded that imaging with narrowband system and overexpression of the p53 protein are procedures useful for the research of Dysplasia in these patients. (author)
Can understanding the neurobiology of body dysmorphic disorder (BDD) inform treatment?

Science.gov (United States)

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.
CBCT findings of periapical cemento-osseous dysplasia: A case report

OpenAIRE

Eskandarloo, Amir; Yousefi, Faezeh

2013-01-01

Periapical cemento-osseous dysplasia (PCOD) is a subtype of cemento-osseous dysplasia that usually occurs in middle-aged black women. This report described a case of a 45-year-old Iranian woman who was diagnosed with PCOD on the basis of cone beam computed tomographic (CBCT) findings. CBCT enabled detailed visualization of the bone changes. This report described the special radiographic characteristics of PCOD, including discontinuity of the lingual cortex on the CBCT sectional and three-dime...
CBCT findings of periapical cemento-osseous dysplasia: A case report

International Nuclear Information System (INIS)

Eskandarloo, Amir; Yousefi, Faezeh

2013-01-01

Periapical cemento-osseous dysplasia (PCOD) is a subtype of cemento-osseous dysplasia that usually occurs in middle-aged black women. This report described a case of a 45-year-old Iranian woman who was diagnosed with PCOD on the basis of cone beam computed tomographic (CBCT) findings. CBCT enabled detailed visualization of the bone changes. This report described the special radiographic characteristics of PCOD, including discontinuity of the lingual cortex on the CBCT sectional and three-dimensional images.
CBCT findings of periapical cemento-osseous dysplasia: A case report

Energy Technology Data Exchange (ETDEWEB)

Eskandarloo, Amir; Yousefi, Faezeh [Dept. of Oral and Maxillofacial Radiology, Faculty of Dentistry, Hamadan University of Medical Science, Hamadan(Korea, Republic of)

2013-09-15

Periapical cemento-osseous dysplasia (PCOD) is a subtype of cemento-osseous dysplasia that usually occurs in middle-aged black women. This report described a case of a 45-year-old Iranian woman who was diagnosed with PCOD on the basis of cone beam computed tomographic (CBCT) findings. CBCT enabled detailed visualization of the bone changes. This report described the special radiographic characteristics of PCOD, including discontinuity of the lingual cortex on the CBCT sectional and three-dimensional images.
CBCT findings of periapical cemento-osseous dysplasia: A case report.

Science.gov (United States)

Eskandarloo, Amir; Yousefi, Faezeh

2013-09-01

Periapical cemento-osseous dysplasia (PCOD) is a subtype of cemento-osseous dysplasia that usually occurs in middle-aged black women. This report described a case of a 45-year-old Iranian woman who was diagnosed with PCOD on the basis of cone beam computed tomographic (CBCT) findings. CBCT enabled detailed visualization of the bone changes. This report described the special radiographic characteristics of PCOD, including discontinuity of the lingual cortex on the CBCT sectional and three-dimensional images.
Ehlers-Danlos syndrome with monostotic fibrous dysplasia

Directory of Open Access Journals (Sweden)

Rao A

1979-01-01

Full Text Available An unusual case of Ehlers-Danlos syndrome with monostotic fibrous dysplasia of the humorus is presented. The other orthopae-dic manifestations, its complications and associated features are re-viewed and summarised.
Anhidrotic Ectodermal Dysplasia with Palmo-plantar Keratoderma

Directory of Open Access Journals (Sweden)

Kamlesh Kumar

1982-01-01

Full Text Available A patient with anhidrotic ectodermal dysplasia and palmo-plantar keratoderma is presented. Palmo-planta keratoderma is an unusual association with this disease. Atopic dermatitis was another associated condition in this patient.
Arrhythmogenic right ventricular dysplasia: A case report

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Tessa Negrín Valdés

2015-10-01

Full Text Available Arrhythmogenic right ventricular dysplasia is a heart muscle disease that predominantly affects the right ventricle, bringing about the replacement of normal myocardium with fatty or fibrofatty tissue and causing sudden death in young individuals. Ventricular tachycardia is an important clinical manifestation, although there are reports of right or global heart failure. The diagnosis is confirmed by echocardiography and magnetic resonance imaging. The case of a 65-year-old former smoker, with hypertension and ischemic heart disease, a history of effort syncope symptoms and proven non-sustained ventricular tachycardia, with morphology of left bundle branch block, is reported. Relevant diagnostic studies were performed, and echocardiographic elements which were compatible with arrhythmogenic right ventricular dysplasia were found. Therefore, an implantable cardioverter defibrillator was implanted, after which the patient has had a favorable outcome.
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.…
Total hip reconstruction in acetabular dysplasia.

NARCIS (Netherlands)

Schller, H.M.; Dalstra, M.; Huiskes, R.; Marti, R.K.

1993-01-01

In acetabular dysplasia, fixation of the acetabular component of a cemented total hip prosthesis may be insecure and superolateral bone grafts are often used to augment the acetabular roof. We used finite element analysis to study the mechanical importance of the lateral acetabular roof and found
A new lethal sclerosing bone dysplasia

International Nuclear Information System (INIS)

Kingston, H.M.; Freeman, J.S.; Hall, C.M.

1991-01-01

A neonate is described with a lethal sclerosing bone dysplasia associated with prenatal fractures and craniofacial abnormalities including microcephaly, exophthalmos, hypoplastic nose and mid-face, small jaw and nodular hyperplasia of the gums. Parental consanguinity suggests that an autosomal recessive mutation is the likely aetiology. (orig.)
Anorexia nervosa and body dysmorphic disorder: A comparison of body image concerns and explicit and implicit attractiveness beliefs.

Science.gov (United States)

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.
Corrections of lower limb deformities in patients with diastrophic dysplasia.

Science.gov (United States)

Al Kaissi, Ali; Kenis, Vladimir; Melchenko, Eugeniy; Chehida, Farid Ben; Ganger, Rudolf; Klaushofer, Klaus; Grill, Franz

2014-11-01

Accurate understanding of the cause of the underlying pathology in children with diastrophic dysplasia would help in designing targeted management of their locomotion. Diastrophic dysplasia was diagnosed in twelve patients (nine girls and three boys; age range 1-14 years), all of whom presented with small stature and apparent short extremities. Club foot (mostly talipes equinovarus) was the most frequent and consistent abnormality. Concomitant abnormalities such as hip flexion contracture, flexion contractures of the knees with excessive valgus deformity and lateral patellar subluxation, were also encountered. Muscle ultrasound and muscle magnetic resonance imaging imaging showed no myopathic changes and muscle biopsies and the respiratory chain were normal. Serum choline kinase and plasma lactate concentrations were normal. Surgical correction of the foot and ankle in patients with diastrophic dysplasia is extremely difficult because of the markedly distorted anatomy. In all of these children, plantigrade foot was achieved along with the improved function of the locomotor system. Mutations of the diastrophic dysplasia sulfate transporter (also known as solute carrier family 26 member 2) were encountered. Arthrogryposis multiplex is the usual terminology used to describe the abnormality in infants with multiple contractures. Diligent orthopaedic care should be provided based on an accurate understanding of the associated syndromes in such children. © 2014 Chinese Orthopaedic Association and Wiley Publishing Asia Pty Ltd.
Population differences in dysmorphic features among children with fetal alcohol spectrum disorders.

Science.gov (United States)

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.

Science.gov (United States)

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)
Primary cellular meningeal defects cause neocortical dysplasia and dyslamination

Science.gov (United States)

Hecht, Jonathan H.; Siegenthaler, Julie A.; Patterson, Katelin P.; Pleasure, Samuel J.

2010-01-01

Objective Cortical malformations are important causes of neurological morbidity, but in many cases their etiology is poorly understood. Mice with Foxc1 mutations have cellular defects in meningeal development. We use hypomorphic and null alleles of Foxc1 to study the effect of meningeal defects on neocortical organization. Methods Embryos with loss of Foxc1 activity were generated using the hypomorphic Foxc1hith allele and the null Foxc1lacZ allele. Immunohistologic analysis was used to assess cerebral basement membrane integrity, marginal zone heterotopia formation, neuronal overmigration, meningeal defects, and changes in basement membrane composition. Dysplasia severity was quantified using two measures. Results Cortical dysplasia resembling cobblestone cortex, with basement membrane breakdown and lamination defects, is seen in Foxc1 mutants. As Foxc1 activity was reduced, abnormalities in basement membrane integrity, heterotopia formation, neuronal overmigration, and meningeal development appeared earlier in gestation and were more severe. Surprisingly, the basement membrane appeared intact at early stages of development in the face of severe deficits in meningeal development. Prominent defects in basement membrane integrity appeared as development proceeded. Molecular analysis of basement membrane laminin subunits demonstrated that loss of the meninges led to changes in basement membrane composition. Interpretation Cortical dysplasia can be caused by cellular defects in the meninges. The meninges are not required for basement membrane establishment but are needed for remodeling as the brain expands. Specific changes in basement membrane composition may contribute to subsequent breakdown. Our study raises the possibility that primary meningeal defects may cortical dysplasia in some cases. PMID:20976766
Bilateral hereditary micro-epiphyseal dysplasia : clinical and genetic analysis of a Dutch family

NARCIS (Netherlands)

Mostert, Adrianus Klazinus

2003-01-01

This thesis is based upon a study of a Dutch family with a unique skeletal dysplasia first described by Elsbach in 1959. Because of the presence of microepiphyses, he called this disorder bilateral hereditary micro-epiphyseal dysplasia (BHMED) and distinguished it from more common multiple
Dysmorphic disorders: clinical and nosological heterogeneity

Directory of Open Access Journals (Sweden)

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.
Pregnancy and mesenchimal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia).

Science.gov (United States)

Radetskaya, L S; Makatsariya, A D; Bitsadze, V O; Khizroeva, J K

2018-07-01

The objective of this article is to attract the attention of clinical physicians to the rare but extremely relevant clinical pathology of mesenchymal dysplasias (Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia) and especially specific characteristics of such diseases during pregnancy. Connective tissue pathology can cover different organs and systems, symptoms of the same disease can vary in different patients thus making diagnostics significantly difficult. Here clinical diagnostic criteria and methods of molecular diagnostics of diseases are described. The pathogenesis of mesenchymal dysplasias is not currently well understood. For the patients with mesenchymal dysplasias pregnancy is fraught with high risk of life-threatening complications. The preferred delivery method for such patients is caesarean section.
New perspectives in the treatment of body dysmorphic disorder

Science.gov (United States)

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

Directory of Open Access Journals (Sweden)

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.
Overdenture restoration in a growing patient with hypohidrotic ectodermal dysplasia: a clinical report.

Science.gov (United States)

Pae, Ahran; Kim, Kyu; Kim, Hyeong-Seob; Kwon, Kung-Rock

2011-03-01

Ectodermal dysplasia is a hereditary disorder of ectodermal origin. A 12-year-old boy was referred for management of the oral manifestations of his ectodermal dysplasia. An overdenture retained by natural teeth for the maxilla and a double-crown-retained denture for the mandible were made. Double-crown-retained dentures may be modified into complete dentures if the abutment teeth are lost. The patient was instructed to maintain oral hygiene and return periodically for follow-up visits. This report describes a potential routine approach to restoring the appearance, function, and psyche of a growing boy with ectodermal dysplasia.
The Body Dysmorphic Disorder Symptom Scale: Development and preliminary validation of a self-report scale of symptom specific dysfunction.

Science.gov (United States)

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.
CT features of fibrous dysplasia of the temporal bone

International Nuclear Information System (INIS)

Charrada-Ben Farhat, L.; Bourkhis, S.; Ben Yaacoub, I.; Dali, N.; Askri, A.; Hendaoui, L.

2006-01-01

Fibrous dysplasia is characterized by a progressive replacement of normal bone elements by fibrous tissue. The temporal bone is rarely involved. In this location, complications such as facial deformity, conductive hearing loss and facial peripheral neural involvement can occur. Positive diagnosis can be established with computerized tomography which also enables assessment of extension and detection of complications. We report a case of a 27-year-old man with extensive fibrous dysplasia of the right temporal bone presenting with conductive hearing loss secondary to progressive stenosis of the external auditory canal. Computerized tomography of the temporal region was performed. (authors)
Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.

Science.gov (United States)

Knaudt, Björn; Volz, Thomas; Krug, Markus; Burgdorf, Walter; Röcken, Martin; Berneburg, Mark

2012-01-01

The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes.
Bilateral fibrous dysplasia of the mandible in a 7-year-old male patient-A rare case

Directory of Open Access Journals (Sweden)

Chandar V

2010-06-01

Full Text Available Fibrous dysplasia is a disturbance of bone metabolism that is classified as a benign fibro-osseous lesion. Fibrous connective tissue, containing abnormal bone, replaces normal bone. The etiology of fibrous dysplasia is unknown. The radiographic appearance of the irregularly shaped trabeculae aids in the differential diagnosis. Occurring most commonly in the second decade of life, the lesions of fibrous dysplasia can be surgically recontoured for esthetic or functional purposes once they become dormant. Here, we report a case of bilateral fibrous dysplasia in a 7 year old male patient and its diagnostic work-up.
Prevalence and heritability of body dysmorphic symptoms in adolescents and young adults: a population-based nationwide twin study.

Science.gov (United States)

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.
Inherited retinal dysplasia and persistent hyperplastic primary vitreous in Miniature Schnauzer dogs.

Science.gov (United States)

Grahn, Bruce H; Storey, Eric S; McMillan, Catherine

2004-01-01

The objectives of this study were to define the clinical syndrome of retinal dysplasia and persistent primary vitreous in Miniature Schnauzer dogs and determine the etiology. We examined 106 Miniature Schnauzers using a biomicroscope and indirect ophthalmoscope. The anterior and posterior segments of affected dogs were photographed. Four enucleated eyes were examined using routine light microscopy and scanning electron microscopy. A pedigree was constructed and related dogs were test-bred to define the mode of inheritance of this syndrome. Congenital retinal dysplasia was confirmed in 24 of 106 related Miniature Schnauzer dogs. Physical and postmortem examinations revealed that congenital abnormalities were limited to the eyes. Biomicroscopic, indirect ophthalmoscopic, and neuro-ophthalmic examinations confirmed that some of these dogs were blind secondary to bilateral retinal dysplasia and detachment (nonattachment) (n = 13), and the remainder had generalized retinal dysplasia (n = 11). Fifteen of these dogs were also diagnosed with unilateral (n = 9) or bilateral (n = 6) persistent hyperplastic primary vitreous. Nutritional, infectious, or toxic etiologies were not evident on physical, postmortem, light microscopic, or transmitting and scanning electron microscopic examination of four affected Miniature Schnauzers. We examined the pedigree and determined that an autosomal recessive mode of inheritance was most likely. Three test-bred litters including those from affected parents, carrier and affected parents, and carrier parents confirmed this mode of inheritance. This study confirms that retinal dysplasia and persistent hyperplastic primary vitreous is a congenital abnormality that is inherited as an autosomal recessive condition in Miniature Schnauzers.
Abnormal development of the lesser wing of the sphenoid with microphthalmos and microcephaly

International Nuclear Information System (INIS)

Jacquemin, C.; Bosley, T.M.

2001-01-01

We report two patients with abnormal development of the lesser wing of the sphenoid bone, globe, optic nerve and cerebral hemisphere without stigmata of neurofibromatosis type 1. The lesser wing of the sphenoid bone was abnormally formed and was not ossified ipsilateral to the dysmorphic eye and underdeveloped cerebral hemisphere. Maldevelopment of the sphenoid wing may interfere with the normal closure of the optic vesicle and normal growth of encephalic structures, possibly by disturbing developmental tissue interactions. These patients may exhibit a type of restricted primary sphenoid dysplasia, while the sphenoid dysplasia of neurofibromatosis type 1 may be secondary to orbital or ocular neurofibromas and other factors associated with that disease. (orig.)
Abnormal development of the lesser wing of the sphenoid with microphthalmos and microcephaly

Energy Technology Data Exchange (ETDEWEB)

Jacquemin, C. [King Khaled Eye Specialist Hospital, Riyadh (Saudi Arabia). Radiology Dept.; Mullaney, P. [Paediatric Ophthalmology Div., King Khaled Eye Specialist Hospital, Riyadh (Saudi Arabia); Bosley, T.M. [Neuro-Ophthalmology Div., King Khaled Eye Specialist Hospital, Riyadh (Saudi Arabia)

2001-02-01

We report two patients with abnormal development of the lesser wing of the sphenoid bone, globe, optic nerve and cerebral hemisphere without stigmata of neurofibromatosis type 1. The lesser wing of the sphenoid bone was abnormally formed and was not ossified ipsilateral to the dysmorphic eye and underdeveloped cerebral hemisphere. Maldevelopment of the sphenoid wing may interfere with the normal closure of the optic vesicle and normal growth of encephalic structures, possibly by disturbing developmental tissue interactions. These patients may exhibit a type of restricted primary sphenoid dysplasia, while the sphenoid dysplasia of neurofibromatosis type 1 may be secondary to orbital or ocular neurofibromas and other factors associated with that disease. (orig.)
Can a more detailed evaluation of excision margins refine cytologic follow-up of women post-LLETZ for high-grade dysplasia?

LENUS (Irish Health Repository)

Treacy, Ann

2010-09-01

The relationship between dysplastic changes in the cervical epithelium and progression to in situ carcinoma and invasive carcinoma has been extensively studied. The removal of dysplastic epithelium through the long loop excision of the transformation zone (LLETZ) in 95% of the cases is curative. About 18% to 37% of LLETZ specimens with dysplasia at the margins have recurrent\\/residual disease. Earlier small studies suggest that the degree of dysplasia at the margins could predict for recurrence and allow a risk-based stratification of follow-up. We tested this hypothesis in a large group of women post-LLETZ for high-grade dysplasia with follow-up histology and cytology over a 12-year period. The cases were divided according to the excision margin status for dysplasia and if positive, low-grade or high-grade dysplasia. The groups were compared to assess whether the LLETZ specimens\\' margin status had an impact on the subsequent cytology or histology results. Positive follow-up results were defined as any grade of dysplasia in cytology or histology. Two thousand three hundred twenty-one women had LLETZs containing high-grade dysplasia over the 12-year period. One thousand five hundred thirty-four (66.1%) women had full histology and cytology follow-up available. Eight hundred twenty (53.4%) LLETZ specimens had positive margins and 714 (46.6%) had negative margins. The grade of dysplasia at the margins was available in 796 cases (97%) with 115 (15%) showing low-grade dysplasia and 680 (85%) high-grade dysplasia. One hundred seventy (20.7%) of the specimens with positive margins had positive follow-up results compared with 105 (14.7%) of the specimens with negative margins. The presence of dysplasia at an LLETZ margin is associated with dysplasia on follow-up cytology and histology (P=0.0021); however, the grade of dysplasia at the excision margin is not predictive of recurrent\\/residual dysplasia.
Cleidocranial Dysplasia Case Report: Remodeling of Teeth as Aesthetic Restorative Treatment

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Leonardo Fernandes da Cunha

2014-01-01

Full Text Available Cleidocranial dysplasia (CCD, is an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals. It is generally characterized by orofacial manifestations, including enamel hypoplasia, retained primary teeth, and impacted permanent and supernumerary teeth. The successful treatment involving a timing intervention (orthodontic-maxillofacial surgeons-restorative is already described. However, the restorative treatment might improve the aesthetic final result in dentistry management for patients with cleidocranial dysplasia. Objective. Therefore, this clinical report presents a conservative restorative management (enamel microabrasion, dental bleaching, and direct composite resin for aesthetic solution for a patient with CCD. Clinical Considerations. The cosmetic remodeling is a conservative, secure, and low cost therapy that can be associated with other procedures such as enamel microabrasion and dental bleaching to achieve optimal outcome. Additionally, the Golden Proportion can be used to guide dental remodeling to improve the harmony of the smile and the facial composition. Conclusions. Thus, dentists must know and be able to treat dental aesthetic problems in cleidocranial dysplasia patients. The intention of this paper is to describe a restorative approach with the cosmetic remodeling teeth (by grinding or addicting material associated with enamel microabrasion and dental bleaching to reestablish the form, shape, and color of smile for patients with cleidocranial dysplasia.
Best practices in peri-operative management of patients with skeletal dysplasias.

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White, Klane K; Bompadre, Viviana; Goldberg, Michael J; Bober, Michael B; Cho, Tae-Joon; Hoover-Fong, Julie E; Irving, Melita; Mackenzie, William G; Kamps, Shawn E; Raggio, Cathleen; Redding, Gregory J; Spencer, Samantha S; Savarirayan, Ravi; Theroux, Mary C

2017-10-01

Patients with skeletal dysplasia frequently require surgery. This patient population has an increased risk for peri-operative complications related to the anatomy of their upper airway, abnormalities of tracheal-bronchial morphology and function; deformity of their chest wall; abnormal mobility of their upper cervical spine; and associated issues with general health and body habitus. Utilizing evidence analysis and expert opinion, this study aims to describe best practices regarding the peri-operative management of patients with skeletal dysplasia. A panel of 13 multidisciplinary international experts participated in a Delphi process that included a thorough literature review; a list of 22 possible care recommendations; two rounds of anonymous voting; and a face to face meeting. Those recommendations with more than 80% agreement were considered as consensual. Consensus was reached to support 19 recommendations for best pre-operative management of patients with skeletal dysplasia. These recommendations include pre-operative pulmonary, polysomnography; cardiac, and neurological evaluations; imaging of the cervical spine; and anesthetic management of patients with a difficult airway for intubation and extubation. The goals of this consensus based best practice guideline are to provide a minimum of standardized care, reduce perioperative complications, and improve clinical outcomes for patients with skeletal dysplasia. © 2017 Wiley Periodicals, Inc.

The development of auditory skills in young children with Mondini dysplasia after cochlear implantation.

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Xueqing Chen

Full Text Available The aim of this study is to survey and compare the development of auditory skills in young children with Mondini dysplasia and profoundly-deaf young children with radiologically normal inner ears over a period of 3 years after cochlear implantation. A total of 545 young children (age 7 to 36 months with prelingual, severe to profound hearing loss participated in this study. All children received cochlear implantation. Based on whether or not there was a Mondini dysplasia as diagnosed with CT scanning, the subjects were divided into 2 groups: (A 514 young children with radiologically normal inner ears and (B 31 young children with Mondini dysplasia. The Infant-Toddler Meaningful Auditory Integration Scale (IT-MAIS was used to assess the children's auditory skills that include vocalization changes, spontaneous alerting to sounds in everyday living environments, and the ability to derive meaning from sounds. The assessment was performed prior to surgery and at 1, 3, 6, 9, 12, 24, and 36 months after implant device switch-on. The mean scores for overall auditory skills were not significantly different between groups A and B at pre-surgery, 1, 12, 24, and 36 months post-surgery, but were significantly different at 3, 6, and 9 months post-surgery. The mean scores for all auditory skills in children with Mondini dysplasia showed significant improvement over time. The mean scores for the three subcategories of auditory skills in children with Mondini dysplasia also showed significant differences at pre-surgery, 1, 3, 6, and 9 months, however, there were no significant differences at 12, 24, and 36 months. Overall, the auditory skills of young children with Mondini dysplasia developed rapidly after cochlear implantation, in a similar manner to that of young children with radiologically normal inner ears. Cochlear implantation is an effective intervention for young children with Mondini dysplasia.
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.
Management of symptomatic florid cemento-osseous dysplasia: Literature review and a case report.

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Aiuto, Riccardo; Gucciardino, Federico; Rapetti, Roberta; Siervo, Sandro; Bianch, Andrea-Edoardo

2018-03-01

Cemento-osseous dysplasia is a jaw disorder characterized by a reactive process in which normal bone is replaced by connective tissue matrix. There are different Cemento-osseous dysplasia entities. The treatment of these lesions, once diagnosed by radiology, is not required because generally they are asymptomatic. The localization is in the tooth-bearing areas of the jaws and its distribution is symmetric. In this case report, a 57-year-old Caucasian female patient was referred to our attention complaining of painful inflammatory events localized in the right angle of the jaw. The radiographic appearance, the distribution of several lesions and the positive vitality test of the involved teeth, supported the diagnosis of Florid Cemento-osseous dysplasia. Because of the symptomatology, the patient was submitted to surgery and the lesion and the second inferior right molar were removed. The histological examination of the specimens confirmed the diagnosis. Many lesions that may exhibit a similar sclerotic appearance on conventional radiographs have to be differentiated and dental imaging can be used to discriminate between Florid COD and other lesions. Diagnosis of Florid Cemento-osseous dysplasia can be made with accurate clinical and radiographic assessment. In asymptomatic cases no treatment is required and the patient should have regular follow-up, but in this symptomatic case it was necessary to proceed with surgical intervention. The surgery treatment in the symptomatic case had a favourable prognosis and the two years follow-up has shown a complete healing. Given the abow, it is concluded that the choice of treatment must be selective according to the disease sites. Key words: Cemento-ossifying dysplasia, fibro-osseous lesions, florid cemento-osseous dysplasia, cementoma.
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

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P K Shivaprakash

2012-01-01

Full Text Available Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature noted is the syndactyly of toes which is reported rarely in this syndrome. A multidisciplinary approach for treatment is needed which is co-ordinated by pedodontist or pediatrician.
Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia

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Odent, S.; Loget, P.; Le Marec, B.; Delezoide, A.; Maroteaux, P.

1999-01-01

We report on a female fetus of 24 weeks whose clinical and radiological findings were compatible with boomerang dysplasia (BD). However, histopathology was unusual with a lateral fan shaped diaphyseal ossification. This has never been described either in typical atelosteogenesis I (AT-I) or in BD. The purpose of this report is to find out if this condition is a separate lethal bone dysplasia or another histological feature of the nosological group of AT-I and BD.    Keywords: boomerang dysplasia; atelosteogenesis; lethal chondrodysplasia; lethal dwarfism PMID:10227404
Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population.

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Woo, Eun Jin; Lee, Won-Joon; Hu, Kyung-Seok; Hwang, Jae Joon

2015-01-01

Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease. The diffused deformities in the upper-limb bones and several coarsened features of the craniofacial bones indicate the most likely diagnosis to have been a certain type of lysosomal storage disease. The skeletal remains of EP-III-4-No.107 from the Eunpyeong site, although incomplete and fragmented, provide important clues to the paleopathological diagnosis of skeletal dysplasias.
Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean Population.

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Eun Jin Woo

Full Text Available Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and lysosomal storage disease. The diffused deformities in the upper-limb bones and several coarsened features of the craniofacial bones indicate the most likely diagnosis to have been a certain type of lysosomal storage disease. The skeletal remains of EP-III-4-No.107 from the Eunpyeong site, although incomplete and fragmented, provide important clues to the paleopathological diagnosis of skeletal dysplasias.
Selfie use: The implications for psychopathology expression of body dysmorphic disorder

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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.
Clinical, radiographic, and histological findings of florid cemento-osseous dysplasia: a case report

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Kim, Jeong Hee; Song, Byeong Chul; Kimn, Sun Ho; Park, Yang Soon

2011-01-01

Cemento-osseous dysplasias are a group of disorders known to originate from periodontal ligament tissue and involve, essentially, the same pathological process. They are usually classified into three main groups: periapical, florid, and focal cemental dysplasias depending on their extent and radiographic appearances. Radiographically, florid cementoosseous dysplasia (FCOD) appears as dense, lobulated masses, often symmetrically located in various regions of the jaws. The best management for the asymptomatic FCOD patient consists of regular recall examinations with prophylaxis. The management of the symptomatic patient is more difficult. A case of FCOD occurring in a 52-year-old edentulous Korean female is reported which is rare with regard to race and sex.
Clinical, radiographic, and histological findings of florid cemento-osseous dysplasia: a case report.

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Kim, Jeong-Hee; Song, Byeong-Chul; Kim, Sun-Ho; Park, Yang-Soon

2011-09-01

Cemento-osseous dysplasias are a group of disorders known to originate from periodontal ligament tissue and involve, essentially, the same pathological process. They are usually classified into three main groups: periapical, florid, and focal cemental dysplasias depending on their extent and radiographic appearances. Radiographically, florid cementoosseous dysplasia (FCOD) appears as dense, lobulated masses, often symmetrically located in various regions of the jaws. The best management for the asymptomatic FCOD patient consists of regular recall examinations with prophylaxis. The management of the symptomatic patient is more difficult. A case of FCOD occurring in a 52-year-old edentulous Korean female is reported which is rare with regard to race and sex.
[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].

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Callea, Michele; Yavuz, Izzet; Clarich, Gabriella; Cammarata-Scalisi, Francisco

2015-12-01

Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplasin-A. It occurs in less than 1 in 100 000 individuals and is clinically characterized by hypodontia, hypohidrosis, hypotrichosis, and eye dis orders. We present a child evaluated in a multidisciplinary manner with clinical and molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia with type missense mutation c.1133C> T; p.T378M in EDA gene.
Clinical, radiographic, and histological findings of florid cemento-osseous dysplasia: a case report

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Kim, Jeong Hee; Song, Byeong Chul; Kimn, Sun Ho; Park, Yang Soon [Seoul Veterans Hospital, Seoul (Korea, Republic of)

2011-09-15

Cemento-osseous dysplasias are a group of disorders known to originate from periodontal ligament tissue and involve, essentially, the same pathological process. They are usually classified into three main groups: periapical, florid, and focal cemental dysplasias depending on their extent and radiographic appearances. Radiographically, florid cementoosseous dysplasia (FCOD) appears as dense, lobulated masses, often symmetrically located in various regions of the jaws. The best management for the asymptomatic FCOD patient consists of regular recall examinations with prophylaxis. The management of the symptomatic patient is more difficult. A case of FCOD occurring in a 52-year-old edentulous Korean female is reported which is rare with regard to race and sex.
HPV prevalence and HPV-related dysplasia in elderly women.

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Ruth S Hermansson

Full Text Available In Sweden, where screening ends at the age of 60, about 30% of the cervical cancer cases occur in women older than 60. The aim of the present study was to investigate the prevalence of HPV and cervical dysplasia in women of 60 years and above.From September 2013 until June 2015, 1051 women aged 60-89 years (mean 68 years were sampled for an HPV test when attending an outpatient gynecology clinic. Women with positive results had a second HPV test and liquid based cytology (LBC, after 3.5 months on average. Those with a positive second HPV test were examined by colposcopy, and biopsy and a sample for LBC was obtained.The prevalence of HPV was 4.1%, (95%CI 3.0-5.5, n = 43 at the first test, and at the second test 2.6% remained positive (95%CI 1.7-3.8, n = 27. The majority of women positive in both HPV tests, had dysplasia in histology, 81.5% (22/27 (4 CIN 2-0.4%, 18 CIN 1-1.7%. HPV-related dysplasia was found in 2.1%, (95%CI 1.3-3.2, n = 22 of the 1051 women. Four of the 22 women with positive HPV tests also had abnormal cytology, one ASCUS and three CIN 1. No cancer or glandular dysplasia was detected.A significant proportion of elderly women were found to have a persistent cervical HPV infection. Among them there was a high prevalence of CIN diagnosed by histology. The HPV test showed high sensitivity and specificity in detecting CIN in elderly women, while cytology showed extremely low sensitivity.
A standardized imaging protocol for the endoscopic prediction of dysplasia within sessile serrated polyps (with video).

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Tate, David J; Jayanna, Mahesh; Awadie, Halim; Desomer, Lobke; Lee, Ralph; Heitman, Steven J; Sidhu, Mayenaaz; Goodrick, Kathleen; Burgess, Nicholas G; Mahajan, Hema; McLeod, Duncan; Bourke, Michael J

2018-01-01

Dysplasia within sessile serrated polyps (SSPs) is difficult to detect and may be mistaken for an adenoma, risking incomplete resection of the background serrated tissue, and is strongly implicated in interval cancer after colonoscopy. The use of endoscopic imaging to detect dysplasia within SSPs has not been systematically studied. Consecutively detected SSPs ≥8 mm in size were evaluated by using a standardized imaging protocol at a tertiary-care endoscopy center over 3 years. Lesions suspected as SSPs were analyzed with high-definition white light then narrow-band imaging. A demarcated area with a neoplastic pit pattern (Kudo type III/IV, NICE type II) was sought among the serrated tissue. If this was detected, the lesion was labeled dysplastic (sessile serrated polyp with dysplasia); if not, it was labeled non-dysplastic (sessile serrated polyp without dysplasia). Histopathology was reviewed by 2 blinded specialist GI pathologists. A total of 141 SSPs were assessed in 83 patients. Median lesion size was 15.0 mm (interquartile range 10-20), and 54.6% were in the right side of the colon. Endoscopic evidence of dysplasia was detected in 36 of 141 (25.5%) SSPs; of these, 5 of 36 (13.9%) lacked dysplasia at histopathology. Two of 105 (1.9%) endoscopically designated non-dysplastic SSPs had dysplasia at histopathology. Endoscopic imaging, therefore, had an accuracy of 95.0% (95% confidence interval [CI], 90.1%-97.6%) and a negative predictive value of 98.1% (95% CI, 92.6%-99.7%) for detection of dysplasia within SSPs. Dysplasia within SSPs can be detected accurately by using a simple, broadly applicable endoscopic imaging protocol that allows complete resection. Independent validation of this protocol and its dissemination to the wider endoscopic community may have a significant impact on rates of interval cancer. (Clinical trial registration number: NCT03100552.). Copyright © 2018 American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc. All
Epileptogenicity of cortical dysplasia in temporal lobe dual pathology: an electrophysiological study with invasive recordings.

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Fauser, Susanne; Schulze-Bonhage, Andreas

2006-01-01

Hippocampal sclerosis is often associated with macroscopic or microscopic dysplasia in the temporal neocortex (TN). The relevance of such a dual pathology with regard to epileptogenesis is unclear. This study investigates the role of both pathologies in the generation of ictal and interictal activity. Ictal (113 seizures) and interictal data from invasive EEG recordings with simultaneous depth electrodes in the hippocampus and subdural electrodes over the TN were analysed retrospectively in 12 patients with variable degrees of hippocampal sclerosis and different types of histologically confirmed temporal cortical dysplasia [all male, age at epilepsy onset 25 Hz) and repetitive sharp waves. The interictal patterns over the TN were similar to those seen over extratemporal focal cortical dysplasias. Simultaneous recordings from the hippocampus and the TN strongly suggest that dysplastic tissue in the TN is often epileptogenic. The quantitative contribution of the hippocampus to seizure generation corresponded with the degree of hippocampal pathology, whereas different subtypes of cortical dysplasia did not affect its relative contribution to seizure generation and even mild forms of dysplasia were epileptogenic.
Anesthetic management during a cesarean section in a patient with cleidocranial dysplasia: a case report.

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Nishio, Yumiko; Hiraki, Teruyuki; Taniguchi, Hiroko; Ushijima, Kazuo

2018-01-01

Cleidocranial dysplasia is a type of skeletal dysplasia, which is primarily characterized by delayed ossification of skeletal structures. It causes facial and oral abnormalities, resulting in difficult airway management and neuraxial anesthesia. The patient was a 24-year-old primipara (height 138 cm, weight 42 kg) with a hypoplastic right clavicle, patent fontanelles, dental malalignment, and a high palate. She was diagnosed with cleidocranial dysplasia at birth, although gene examination has not been performed. The fetus was confirmed to have short limbs and large fontanelles during an examination performed at 28 weeks gestation, suspected to have cleidocranial dysplasia. The mother was scheduled for a cesarean section at 37 weeks and 1 day due to cephalopelvic disproportion. Preoperative radiography and magnetic resonance imaging revealed no vertebral and spinal abnormalities, which allowed combined spinal-epidural analgesia (CSEA) to be performed. The surgery was safely concluded under CSEA with no intraoperative respiratory or circulatory problems. Patients with cleidocranial dysplasia exhibit facial, oral abnormalities, and often vertebral abnormalities. Imaging assessments before neuraxial anesthesia and careful preparation for airway management are required.
Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.

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Bibi, Nosheen; Ahmad, Saeed; Ahmad, Wasim; Naeem, Muhammad

2011-02-01

Hypohidrotic ectodermal dysplasia is an inherited disorder characterized by defective development of teeth, hairs and sweat glands. X-linked hypohidrotic ectodermal dysplasia is caused by mutations in the EDA gene, and autosomal forms of hypohidrotic ectodermal dysplasia are caused by mutations in either the EDAR or the EDARADD genes. To study the molecular genetic cause of autosomal recessive hypohidrotic ectodermal dysplasia in three consanguineous Pakistani families (A, B and C), genotyping of 13 individuals was carried out by using polymorphic microsatellite markers that are closely linked to the EDAR gene on chromosome 2q11-q13 and the EDARADD gene on chromosome 1q42.2-q43. The results revealed linkage in the three families to the EDAR locus. Sequence analysis of the coding exons and splice junctions of the EDAR gene revealed two mutations: a novel non-sense mutation (p.E124X) in the probands of families A and B and a missense mutation (p.G382S) in the proband of family C. In addition, two synonymous single-nucleotide polymorphisms were also identified. The finding of mutations in Pakistani families extends the body of evidence that supports the importance of EDAR for the development of hypohidrotic ectodermal dysplasia. © 2010 The Authors. Australasian Journal of Dermatology © 2010 The Australasian College of Dermatologists.
A case of Mondini dysplasia with recurrent Streptococcus pneumoniae meningitis.

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Yilmaz Ciftdoğan, Dilek; Bayram, Nuri; Ozdemir, Yasemin; Bayraktaroğlu, Selen; Vardar, Fadil

2009-12-01

Mondini's dysplasia is a developmental anomaly of the middle ear characterized by cochlear malformation with dilation of the vestibular aquaduct, vestibule, and ampullar ends of the semicircular canals. These deformities may result in a connection between subarachnoid space and the middle ear resulting in recurrent episodes of meningitis. Additionally, it is commonly associated with hearing impairment. We describe here a boy with recurrent meningitis and unilateral sensorineural hearing loss. Mondini dysplasia was demonstrated with computed tomographic scans of the temporal bones in the search for pathogenesis of recurrent meningitis.
Ectodermal Dysplasia with Anodontia: A Report of Two Cases

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Bani, Mehmet; Tezkirecioglu, Ali Melih; Akal, Nese; Tuzuner, Tamer

2010-01-01

Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/or permanent dentition. Two case reports illustrating the prosthetic rehabilitation of 2 young boys with anhidrotic ectodermal dysplasia associated with severe anodontia are presented. Since the oral rehabilitation of these cases is often difficult; particularly in pediatric patients, treatment should be administered by a multidisciplinary team involving pediatric dentistry, orthodontics, prosthodontics and oral-maxillofacial surgery. PMID:20396456

Ectodermal Dysplasia: A Clinical Overview for the Dental Practitioner.

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Halai, Tina; Stevens, Claire

2015-10-01

The term ectodermal dysplasia (ED) is used to describe a group of rare congenital disorders characterized by abnormalities of two or more ectodermal structures such as the skin, hair, nails, teeth and sweat glands. This paper will give an overview of the aetiology of ED and describe the manifestations and dental management of this condition. In particular, the important role of the dental practitioner in the identification and management of patients with ED will be highlighted. CPD/Clinical Relevance: Dental practitioners should be aware of the oral features of ectodermal dysplasia and be able to make timely referrals and provide appropriate continuing care for these patients.
Case report 486: Spondyloepiphyseal dysplasia tarda (SDT) (presumptively proved)

International Nuclear Information System (INIS)

Brown, D.D.; Childress, M.H.

1988-01-01

A 51 year old man with severe degenerative joint disease, short stature, barrel chest deformity, platyspondyly, a narrow pelvis, small iliac bones, dysplastic femoral heads and necks, notching of the patellae and flattening of the femoral intercondylar notches has been described as an example of Spondyloepiphyseal dysplasia tarda SDT. The entity was discussed in detail. The notching of the patellae has not been reported in association with SDT to the authors' knowledge. Characteristic features of SDT allow it to be differentiated from other arthropathies and dysplasias and these distinctions have been emphasized in the discussion. The diagnosis in this case can only be considered presumptively proved. (orig./MG)
An unusual form of spondyloepiphyseal dysplasia, with advanced carpal and spinal end-plate ossification mimicking COMP-mutation-like multiple epiphyseal dysplasia

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Pazzaglia, Ugo E.; Zarattini, Guido [University of Brescia Medical School, Department of Orthopaedics and Traumatology, Brescia (Italy); Beluffi, Giampiero [Fondazione IRCCS Policlinico S. Matteo, Section of Paediatric Radiology, Department of Radiodiagnosis, Pavia (Italy)

2008-07-15

We present a child with irregular ossification of tubular bone epiphyses, short bones, and spine. The radiographic evolution of bones undergoing endochondral ossification was followed from the age of 1 year 9 months to 6 years. The unusual features demonstrated in this child made classification difficult: pseudoachondroplasia was excluded because no mutations of the COMP gene were found. Considering the evolution of the radiographic appearances, the most likely diagnosis would seem to be an unusual form of spondyloepiphyseal dysplasia, mimicking some aspects of multiple epiphyseal dysplasia. Endochondral ossification was diffusely altered with a mixture of epiphyseal ossification delay associated with acceleration and early fusion. This case was a unique presentation within the family, suggesting a mutation in the affected child. (orig.)
An unusual form of spondyloepiphyseal dysplasia, with advanced carpal and spinal end-plate ossification mimicking COMP-mutation-like multiple epiphyseal dysplasia

International Nuclear Information System (INIS)

Pazzaglia, Ugo E.; Zarattini, Guido; Beluffi, Giampiero

2008-01-01

We present a child with irregular ossification of tubular bone epiphyses, short bones, and spine. The radiographic evolution of bones undergoing endochondral ossification was followed from the age of 1 year 9 months to 6 years. The unusual features demonstrated in this child made classification difficult: pseudoachondroplasia was excluded because no mutations of the COMP gene were found. Considering the evolution of the radiographic appearances, the most likely diagnosis would seem to be an unusual form of spondyloepiphyseal dysplasia, mimicking some aspects of multiple epiphyseal dysplasia. Endochondral ossification was diffusely altered with a mixture of epiphyseal ossification delay associated with acceleration and early fusion. This case was a unique presentation within the family, suggesting a mutation in the affected child. (orig.)
Concurrent cemento-osseous dysplasia and osteogenic sarcoma: report of two cases.

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Olusanya, A A; Adeyemi, B F; Adisa, A O

2012-01-01

Aim. Cemento-osseous dysplasia (COD) represents a rare group of benign fibroosseous disorders, while osteogenic sarcoma (OS) on the hand, is a malignant tumour of ominous prognosis. A combination of COD and OS is rare and sparsely reported in literature. There are only four reported cases known to the authors. The aim of this paper is to report additional cases of COD occurring concurrently with OS. Materials and Methods. The clinicoradiologic findings and histological analysis of mandibular lesions in two patients who reported at the Dental Centre of the University College Hospital, Ibadan, Nigeria, are presented. Results. The two patients were diagnosed of mandible osteosarcoma occurring concurrently with bilateral mandibular focal cemento-osseous dysplasia. Conclusion. The simultaneous occurrence of osteosarcoma and cemento-osseous dysplasia raises the question of whether COD has transformed into OS or a collision tumour has occurred and their simultaneous occurrence is just a coincidence.
Periacetabular Osteotomy in patients with Hip Dysplasia investigated with Imaging Modalities

DEFF Research Database (Denmark)

Mechlenburg, Inger

2016-01-01

, cartilage and blood perfusion after PAO in patients with hip dysplasia. Furthermore, to investigate the relationship between the acetabular angles and health-related quality of life (QoL) after PAO. And finally, to study the level of radiation to the surgeon during PAO. Chapters 3 to 7 investigate the first......The minimal invasive periacetabular osteotomy (PAO) is a joint-preserving procedure that effectively corrects hip dysplasia, provides pain relief, improved radiographic results and a low rate of complications. The aim of this doctoral dissertation was to examine biological changes in bone...... is applied on 26 patients scheduled for PAO. In chapter 4, a cohort of patients with hip dysplasia are followed with Dual-energy X-ray absorptiometry (DXA) prior to and 1 and 2½ years after PAO to investigate changes in acetabular bone mineral density after PAO. Moreover, to examine whether bone mineral...
Reconstruction of the Acetabulum in Developmental Dysplasia of the Hip in Total Hip Replacement

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Vasileios Sakellariou

2014-09-01

Full Text Available Developmental dysplasia of the hip (DDH or congenital hip dysplasia (CDH is the most prevalent developmental childhood hip disorder. It includes a wide spectrum of hip abnormalities ranging from dysplasia to subluxation and complete dislocation of the hip joint. The natural history of neglected DDH in adults is highly variable. The mean age of onset of symptoms is 34.5 years for dysplastic DDH, 32.5 years for low dislocation, 31.2 years for high dislocation with a false acetabulum, and 46.4 years for high dislocation without a false acetabulum. Thorough understanding of the bony and soft tissue deformities induced by dysplasia is crucial for the success of total hip arthroplasty. It is important to evaluate the existing acetabular deformity three-dimensionally, and customize the correction in accordance with the quantity and location of ace tabular deficiencies. Acetabular reconstruction in patients with DDH is hallenging. Interpretation of published data is difficult and should be done with caution because most series include patients with different types of hip disease. In general, the complication rate associated with THA is higher in patients with hip dysplasia than it is in patients with osteoarthritis. Overall, clinical and functional outcomes following THA in patients hip dysplasia (DDH differ from those treated for primary hip osteoarthritis, possibly due to the lower age and level of activity. Although function scores decline with age, the scores for pain and range of motion presented with a statistically significant improvement in the long-term.
Dental and maxillofacial characteristics of six Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome.

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Okamura, Erika; Suda, Naoto; Baba, Yoshiyuki; Fukuoka, Hiroki; Ogawa, Takuya; Ohkuma, Mizue; Ahiko, Nozomi; Yasue, Akihiro; Tengan, Toshimoto; Shiga, Momotoshi; Tsuji, Michiko; Moriyama, Keiji

2013-03-01

Objective : Ectrodactyly-ectodermal dysplasia-clefting syndrome is a congenital anomaly characterized by ectodermal dysplasia, ectrodactyly, cleft lip and palate, and lacrimal duct anomalies. Because this syndrome is frequently accompanied by a congenital lack of teeth, narrow palate, and malocclusion, comprehensive orthodontic intervention is required. Design : To highlight the specific dental and maxillofacial characteristics of ectrodactyly-ectodermal dysplasia-clefting syndrome, six Japanese individuals diagnosed with the syndrome are described here. Patients : The subjects consisted of two boys and four girls (age range, 6.0 to 13.9 years) diagnosed with ectrodactyly-ectodermal dysplasia-clefting syndrome by medical and dental specialists. Their conditions included ectodermal dysplasia (hypodontia, microdontia, enamel hypoplasia, and abnormalities in hair and nails), cleft lip and/or palate, and ectrodactyly. Cephalograms, panoramic x-rays, and dental casts were taken; systemic complications were recorded at the first visit to our dental hospital. Results : All individuals had severe oligodontia with 9 to 18 missing teeth. The missing teeth were mainly maxillary and mandibular incisors and second bicuspids, arranged in a symmetrical manner. Cephalometric analysis showed retruded and short maxilla due to cleft lip and/or palate. It is interesting that all individuals showed a characteristically shaped mandibular symphysis with a retruded point B. It is likely that this unusual symphyseal morphology is due to the lack of mandibular incisors. Conclusions : This study demonstrates the presence of severe oligodontia in the incisal and premolar regions and describes a characteristic maxillary and mandibular structure in Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting syndrome.
Placental Mesenchymal Dysplasia: A Case Report

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Rachna Agarwal

2012-01-01

Full Text Available Introduction. A rare case of histologically proven placental mesenchymal dysplasia (PMD with fetal omphalocele in a 22-year-old patient is reported. Material and Methods. Antenatal ultrasound of this patient showed hydropic placenta with a live fetus of 17 weeks period of gestation associated with omphalocele. Cordocentesis detected the diploid karyotype of the fetus. Patient, when prognosticated, choose to terminate the pregnancy in view of high incidence of fetal and placental anomalies. Subsequent histopathological examination of placenta established the diagnosis to be placental mesenchymal dysplasia. Conclusion. On clinical and ultrasonic grounds, suspicion of P.M.D. arises when hydropic placenta with a live fetus presents in second trimester of pregnancy. Cordocentesis can detect the diploid karyotype of the fetus in such cases. As this condition is prognostically better than triploid partial mole, continuation of pregnancy can sometimes be considered after through antenatal screening and patient counseling. However, a definite diagnosis of P.M.D. is made only on placental histology by absence of trophoblast hyperplasia and trophoblastic inclusions.
The importance of conventional radiography in the mutational analysis of skeletal dysplasias (the TRPV4 mutational family)

Energy Technology Data Exchange (ETDEWEB)

Nemec, Stefan F.; Cohn, Daniel H.; Krakow, Deborah; Funari, Vincent A.; Rimoin, David L.; Lachman, Ralph S. [Medical Genetics Institute, Cedars Sinai Medical Center, International Skeletal Dysplasia Registry, Los Angeles, CA (United States)

2012-01-15

The spondylo and spondylometaphyseal dysplasias (SMDs) are characterized by vertebral changes and metaphyseal abnormalities of the tubular bones, which produce a phenotypic spectrum of disorders from the mild autosomal-dominant brachyolmia to SMD Kozlowski to autosomal-dominant metatropic dysplasia. Investigations have recently drawn on the similar radiographic features of those conditions to define a new family of skeletal dysplasias caused by mutations in the transient receptor potential cation channel vanilloid 4 (TRPV4). This review demonstrates the significance of radiography in the discovery of a new bone dysplasia family due to mutations in a single gene. (orig.)
Ureaplasma urealyticum colonization, prematurity and bronchopulmonary dysplasia

NARCIS (Netherlands)

vanWaarde, WM; Brus, F; Okken, A; Kimpen, JLL

The aim of the present study was to determine the association between the presence of Ureaplasma urealyticum in endotracheal aspirates and bronchopulmonary dysplasia (BPD). In addition, a review of similar studies from the English literature is presented. During the period February 1990 until March
[From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor

NARCIS (Netherlands)

Ravenswaaij-Arts, C.M.A. van; Losekoot, M.

2001-01-01

Achondroplasia, the most common and best known skeletal dysplasia, is inherited in an autosomal dominant fashion. Like a number of other skeletal dysplasias, among which hypochondroplasia and thanatophoric dysplasia, achondroplasia is caused by mutations in the fibroblast growth factor receptor 3
Walking pattern in adults with congenital hip dysplasia: 14 women examined by inverse dynamics

DEFF Research Database (Denmark)

Pedersen, Eva Natalia G.; Simonsen, Erik B; Alkjaer, T

2004-01-01

Knowledge of the gait dynamics in patients with hip dysplasia may help to understand the consequences of the mechanical changes in the hip.......Knowledge of the gait dynamics in patients with hip dysplasia may help to understand the consequences of the mechanical changes in the hip....
Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.

Science.gov (United States)

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.
Longitudinal outcomes of radiofrequency ablation versus surveillance endoscopy for Barrett's esophagus with low-grade dysplasia.

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Kahn, A; Al-Qaisi, M; Kommineni, V T; Callaway, J K; Boroff, E S; Burdick, G E; Lam-Himlin, D M; Temkit, M; Vela, M F; Ramirez, F C

2018-04-01

Radiofrequency ablation of Barrett's esophagus with low-grade dysplasia is recommended in recent American College of Gastroenterology guidelines, with endoscopic surveillance considered a reasonable alternative. Few studies have directly compared outcomes of radiofrequency ablation to surveillance and those that have are limited by short duration of follow-up. This study aims to compare the long-term effectiveness of radiofrequency ablation versus endoscopic surveillance in a large, longitudinal cohort of patients with Barrett's esophagus, and low-grade dysplasia.We conducted a retrospective analysis of patients with confirmed low-grade dysplasia at a single academic medical center from 1991 to 2014. Patients progressing to high-grade dysplasia or esophageal adenocarcinoma within one year of index LGD endoscopy were defined as missed dysplasia and excluded. Risk factors for progression were assessed via Cox proportional hazards model. Comparison of progression risk was conducted using a Kaplan-Meier analysis. Subset analyses were conducted to examine the effect of reintroducing early progressors and excluding patients diagnosed prior to the advent of ablative therapy. Of 173 total patients, 79 (45.7%) underwent radiofrequency ablation while 94 (54.3%) were untreated, with median follow up of 90 months. Seven (8.9%) patients progressed to high-grade dysplasia or adenocarcinoma despite ablation, compared with 14 (14.9%) undergoing surveillance (P = 0.44). This effect was preserved when patients diagnosed prior to the introduction of radiofrequency ablation were excluded (8.9% vs 13%, P = 0.68). Reintroduction of patients progressing within the first year of follow-up resulted in a trend toward significance for ablation versus surveillance (11.1% vs 23.8%, P = 0.053).In conclusion, progression to high-grade dysplasia or adenocarcinoma was not significantly reduced in the radiofrequency ablation cohort when compared to surveillance. Despite recent studies
Immunolocalization of osteopontin in dysplasias and squamous cell carcinomas arising from oral epithelium.

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Aravind, Thara; Janardhanan, Mahija; Rakesh, S; Savithri, Vindhya; Unnikrishnan, U G

2017-01-01

Early detection of oral squamous cell carcinoma (OSCC) remains one of the most efficient ways to ensure patient survival and improved quality of life. Although specific biomarkers related to OSCC have been investigated, a useful biomarker that assesses the transition potential of potentially malignant lesion to OSCC remains to be found. Osteopontin (OPN) has been recognized as an important factor in tumorigenesis and their expression in OSCC have been investigated earlier. In the present study, evaluation of OPN expression in premalignant and malignant lesions has been carried out to assess their possible role as a biomarker in the early diagnosis and prognosis of OSCC. The objective of this study is to evaluate the role of OPN as a biomarker in the diagnosis and prognosis of OSCC. The study group consisted of archival paraffin-embedded blocks of ten cases each of varying grades of OSCC, oral epithelial dysplasias and epithelial hyperplasias. Sections were subjected to immunohistochemical staining for the biomarker OPN. A positive OPN expression was noticed in epithelial dysplasias and SCC arising from the oral epithelium. A progressive increase in the intensity of staining was seen with increasing grades of dysplasias and a decrease in OPN expression with an increase in grades was observed in OSCC. The expression of OPN in full thickness of epithelium in severe dysplasias, carcinoma in situ, and in the superficial epithelium of OSCC suggest the possibility of considering OPN expression in full epithelial thickness in dysplasias as an indicator for malignant transformation.
Central ossifying fibroma, periapical cemento-osseous dysplasia and complex odontoma occurring in the same jaw

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Farzaneh Agha Hosseini

2011-05-01

Full Text Available Central ossifying fibroma is a rare, benign fibro-osseous lesion that arises from the periodontal ligament. Periapical cemento-osseous dysplasia is another variant of fibro-osseous lesion which occurs in the anterior region of the mandible of females. Odontoma is a benign odontogenic tumor that contains enamel, dentine cement and pulp tissue. A 46-year-old woman was referred to the Department of Oral Medicine, School of Dentistry, Tehran University of Medical Sciences, with two nonpainful swellings on both sides of the mandible, which had been slowly growing over a period of one year. Our differential diagnosis was florid cemento-osseous dysplasia, focal cemento-osseous dysplasia for the right side, complex odontoma for the left side and periapical cement-osseous dysplasia for the anterior side. The historical feature revealed ossifying fibroma, complex odontoma and periapical cemento-osseous dysplasia. The occurrence of these three lesions in the same jaw has been rarely reported in the literature. The relationship between the occurrence of these three lesions is not obvious it could be coincidental. It seems that more case reports are needed to establish the relationship between them.
Skeletal Dysplasias Associated with Mild Myopathy—A Clinical and Molecular Review

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Katarzyna A. Piróg

2010-01-01

Full Text Available Musculoskeletal system is a complex assembly of tissues which acts as scaffold for the body and enables locomotion. It is often overlooked that different components of this system may biomechanically interact and affect each other. Skeletal dysplasias are diseases predominantly affecting the development of the osseous skeleton. However, in some cases skeletal dysplasia patients are referred to neuromuscular clinics prior to the correct skeletal diagnosis. The muscular complications seen in these cases are usually mild and may stem directly from the muscle defect and/or from the altered interactions between the individual components of the musculoskeletal system. A correct early diagnosis may enable better management of the patients and a better quality of life. This paper attempts to summarise the different components of the musculoskeletal system which are affected in skeletal dysplasias and lists several interesting examples of such diseases in order to enable better understanding of the complexity of human musculoskeletal system.
An atypical case of craniometaphyseal dysplasia. Case report and surgical treatment.

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Novelli, Giorgio; Ardito, Emanuela; Mazzoleni, Fabio; Bozzetti, Alberto; Sozzi, Davide

2017-01-01

Craniometaphyseal dysplasia is a rare hereditary bone disease presenting metaphyseal widening of the tubular bones, sclerosis of craniofacial bones and bony overgrowth of the facial and skull bones. Craniometaphyseal dysplasia occurs in an autosomal dominant (AD) and an autosomal recessive (AR) form. We present a 32-year-old patient arrived at our unit in May 2009. His main discomfort was a major limitation of the mouth opening, in the context of a craniofacial deformity. Relying on patient's medical history and the performed diagnostic tests, the diagnosis of craniometaphyseal dysplasia was made. After careful evaluation of the clinical case, in accordance with the requirements of the patient, we opted for a surgical treatment aimed at correction of functional limitation of temporomandibular joint and aesthetic improvement of the facial bones. The stability of the clinical results led us to suggest and to undertake the surgical path, also due to the lack of safe and consolidated non-surgical treatments for the specific case.
Foetal radiography for suspected skeletal dysplasia: technique, normal appearances, diagnostic approach

Energy Technology Data Exchange (ETDEWEB)

Calder, Alistair D. [Great Ormond Street Hospital for Children NHS Foundation Trust, Radiology Department, London (United Kingdom); Offiah, Amaka C. [Sheffield Children' s NHS Foundation Trust, Academic Unit of Child Health, Sheffield (United Kingdom)

2015-04-01

Despite advances in antenatal imaging and genetic techniques, post-delivery post-mortem foetal radiography remains the key investigation in accurate diagnosis of skeletal dysplasia manifesting in the foetus. Foetal radiography is best performed using pathology-specimen radiography equipment and is often carried out in the pathology department without involvement of the radiology unit. However, paediatric radiologists may be asked to interpret post-mortem foetal radiographs when an abnormality is suspected. Many foetal radiographs are carried out before 20 weeks' gestation, and the interpreting radiologist needs to be familiar with the range of normal post-mortem foetal appearances at different gestational ages, as well as the appearances of some of the more commonly presenting skeletal dysplasias, and will benefit from a systematic approach when assessing more challenging cases. In this pictorial essay, we illustrate various normal post-mortem foetal radiographic appearances, give examples of commonly occurring skeletal dysplasias, and describe an approach to establishing more difficult diagnoses. (orig.)

Foetal radiography for suspected skeletal dysplasia: technique, normal appearances, diagnostic approach

International Nuclear Information System (INIS)

Calder, Alistair D.; Offiah, Amaka C.

2015-01-01

Despite advances in antenatal imaging and genetic techniques, post-delivery post-mortem foetal radiography remains the key investigation in accurate diagnosis of skeletal dysplasia manifesting in the foetus. Foetal radiography is best performed using pathology-specimen radiography equipment and is often carried out in the pathology department without involvement of the radiology unit. However, paediatric radiologists may be asked to interpret post-mortem foetal radiographs when an abnormality is suspected. Many foetal radiographs are carried out before 20 weeks' gestation, and the interpreting radiologist needs to be familiar with the range of normal post-mortem foetal appearances at different gestational ages, as well as the appearances of some of the more commonly presenting skeletal dysplasias, and will benefit from a systematic approach when assessing more challenging cases. In this pictorial essay, we illustrate various normal post-mortem foetal radiographic appearances, give examples of commonly occurring skeletal dysplasias, and describe an approach to establishing more difficult diagnoses. (orig.)
Body dysmorphic disorder in patients undergoing septorhinoplasty surgery: should we be performing routine screening?

Science.gov (United States)

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.
Angiographic diagnosis of fibromuscular dysplasia of the renal arteries

Energy Technology Data Exchange (ETDEWEB)

Petkov, B.; Grigorov, G.; Nedelkov, G. (Meditsinska Akademiya, Sofia (Bulgaria). Nauchen Inst. po Rentgenologiya i Radiobiologiya)

1982-01-01

In the nosological structure of renovascular hypertensions fibromuscular dysplasia of the renal arteries by incidence ranks second after atherosclerosis. The illness affects mainly women, more frequently young and having borne a child. Hypertension in such patients is usually characterized by high values of the diastolic pressure, and leads to early neurologic complaints such as headache, sight impairment, vertigo and Meniere-like syndromes. Morphological and functional changes are likewise described. Some of the literature statements concerning the etiopathogenesis and classification of fibromuscular dysplasia are critically assayed. The success of the surgical management depends on the timely established exact diagnosis, and angiography appears to be the only method of primary importance in this respect.
Angiographic diagnosis of fibromuscular dysplasia of the renal arteries

International Nuclear Information System (INIS)

Petkov, B.; Grigorov, G.; Nedelkov, G.

1982-01-01

In the nosological structure of renovascular hypertensions fibromuscular dysplasia of the renal arteries by incidence ranks second after atherosclerosis. The illness affects mainly women, more frequently young and having borne a child. Hypertension in such patients is usually characterized by high values of the diastolic pressure, and leads to early neurologic complaints such as headache, sight impairment, vertigo and Meniere-like syndromes. Morphological and functional changes are likewise described. Some of the literature statements concerning the etiopathogenesis and classification of fibromuscular dysplasia are critically assayed. The success of the surgical management depends on the timely established exact diagnosis, and angiography appears to be the only method of primary importance in this respect. (author)
Recurrent bacterial meningitis in a child with mondini dysplasia.

Science.gov (United States)

Kepenekli-Kadayifci, Eda; Karaaslan, Ayşe; Atıcı, Serkan; Binnetoğlu, Adem; Sarı, Murat; Soysal, Ahmet; Altınkanat, Gülşen; Bakır, Mustafa

2014-01-01

Mondini dysplasia, also known as Mondini malformation, is a developmental abnormality of the inner and middle ears that can cause hearing loss, cerebrospinal fluid (CSF) leakage, and recurrent bacterial meningitis (RBM), which is defined as two or more episodes of meningitis separated by a period of convalescence and the complete resolution of all signs and symptoms. An accurate diagnosis of the underlying pathology is crucial to prevent further episodes from occurring. Herein, we present a three-year-old boy with RBM and unilateral sensorineural hearing loss. During the evaluation to determine the etiology of the RBM, cystic malformation in the cochlea and vestibular dilatation consistent with Mondini dysplasia were detected via computerized tomography (CT) of the temporal bone.
Mechanical Ventilation and Bronchopulmonary Dysplasia.

Science.gov (United States)

Keszler, Martin; Sant'Anna, Guilherme

2015-12-01

Mechanical ventilation is an important potentially modifiable risk factor for the development of bronchopulmonary dysplasia. Effective use of noninvasive respiratory support reduces the risk of lung injury. Lung volume recruitment and avoidance of excessive tidal volume are key elements of lung-protective ventilation strategies. Avoidance of oxidative stress, less invasive methods of surfactant administration, and high-frequency ventilation are also important factors in lung injury prevention. Copyright © 2015 Elsevier Inc. All rights reserved.
Ectodermal dysplasia in identical twins

OpenAIRE

Puttaraju, Gurkar Haraswarupa; Visveswariah, Paranjyothi Magadi

2013-01-01

Hereditary hypohidrotic ectodermal dysplasia (HED) is typically inherited as an X-linked recessive trait, characterized by deformity of at least two or more of the ectodermal structures - hair, teeth, nails and sweat glands. Two cases of hereditary HED involving identical male twins, is being documented for the rarity of its occurrence with special attention given to genetics, pathophysiology, clinical, intraoral manifestations and to the methods to improve the masticatory function, the facia...
mRNA expression of the DNA replication-initiation proteins in epithelial dysplasia and squamous cell carcinoma of the tongue

International Nuclear Information System (INIS)

Li, Jian-na; Feng, Chong-jin; Lu, Yong-jun; Li, Hui-jun; Tu, Zheng; Liao, Gui-qing; Liang, Chun

2008-01-01

The tongue squamous cell carcinomas (SCCs) are characterized by high mitotic activity, and early detection is desirable. Overexpression of the DNA replication-initiation proteins has been associated with dysplasia and malignancy. Our aim was to determine whether these proteins are useful biomarkers for assessing the development of tongue SCC. We analyzed the mRNA expression of CDC6, CDT1, MCM2 and CDC45 in formalin-fixed, paraffin-embedded benign and malignant tongue tissues using quantitative real-time PCR followed by statistical analysis. We found that the expression levels are significantly higher in malignant SCC than mild precancerous epithelial dysplasia, and the expression levels in general increase with increasing grade of precancerous lesions from mild, moderate to severe epithelial dysplasia. CDC6 and CDC45 expression is dependent of the dysplasia grade and lymph node status. CDT1 expression is higher in severe dysplasia than in mild and moderate dysplasia. MCM2 expression is dependent of the dysplasia grade, lymph node status and clinical stage. The expression of the four genes is independent of tumor size or histological grade. A simple linear regression analysis revealed a linear increase in the mRNA levels of the four genes from the mild to severe dysplasia and SCC. A strong association was established between CDC6 and CDT1, and between MCM2 and CDC45 expression. The nonparametric receiver operating characteristic analysis suggested that MCM2 and CDC45 had a higher accuracy than CDC6 and CDT1 for distinguishing dysplasia from tongue SCC. These proteins can be used as biomarkers to distinguish precancerous dysplasia from SCC and are useful for early detection and diagnosis of SCC as an adjunct to clinicopathological parameters
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.
Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsens mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation

DEFF Research Database (Denmark)

Bruun Krøigård, Anne; Clemmensen, Ole; Gjørup, Hans

2016-01-01

was homozygous for a previously reported pathogenic mutation in the WNT10A gene, c.321C > A, p.Cys107*. The skin and nail abnormalities were for many years interpreted as psoriasis and treated accordingly. A thorough clinical examination revealed hypotrichosis and hyperhidrosis of the soles and dental...... history of tooth anomalies, this lead to the clinical suspicion of a hereditary ectodermal dysplasia. CONCLUSION: This case illustrates the challenges of diagnosing ectodermal dysplasia like OODD and highlights the relevance of interdisciplinary cooperation in the diagnosis of rare conditions....
Double trisomy 48,XXX,+18 with multiple dysmorphic features.

Science.gov (United States)

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

Science.gov (United States)

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
Analysis of cause-effect relationship of hip dysplasia in pre-school children

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Anna Rudenko

2015-12-01

Full Text Available Purpose: to analyze and scientifically substantiate peculiarities of cause-effect relationship of hip dysplasia in pre-school children. Material and Methods: analysis and systematization of scientific and methodological literature, medical histories, anamneses, interviews and questionings. Results: it is specified that failure to timely identify and eliminate the symptoms of hip dysplasia in pre-school children leads to negative consequences, namely limited amplitude of hip joint movements; lower limp muscle weakness; valgus and varus deformations of lower limp; increasing of L-lordosis; skewness of hip bones; scoliosis; claudication. Conclusions: the modern state of the problem of hip dysplasia in pre-school children is analyzed. The cause-effect relationship is defined, their mutual transition is projected. All cause-effect relationships are in direct proportion and in constant interaction: the cause the forms effect and the effect influences the cause
Mini-implants: alternative for oral rehabilitation of a child with ectodermal dysplasia.

Science.gov (United States)

Mello, Bianca Zeponi Fernandes; Silva, Thiago Cruvinel; Rios, Daniela; Machado, Maria Aparecida Andrade Moreira; Valarelli, Fabrício Pinelli; Oliveira, Thais Marchini

2015-01-01

Ectodermal dysplasia is a rare congenital disease that affects several structures of ectodermal origin. The most commonly related oral characteristics are hypodontia, malformed teeth and underdeveloped alveolar ridges. New alternative treatments are needed due to the failure of the conventional prosthesis retention. This case report outlines the oral rehabilitation treatment of a 9-year-old girl with ectodermal dysplasia. The treatment was performed with conventional prosthesis upon mini-implants. The mini-implants provided prosthetic retention. The patient reported a good adaptation of the dental prosthesis and satisfaction with the treatment. The increased self-esteem improved the socialization skills of the girl. In this case report, use of prosthesis with mini-implants was satisfactory for prosthetic retention. However, clinical studies with long-term follow-up are needed to test the mini-implants as an alternative for oral rehabilitation of children with ectodermal dysplasia.
Sex. Dev.

OpenAIRE

Jakubiczka, S.; Schröder, C.; Ullmann, R.; Volleth, M.; Ledig, S.; Gilberg, E.; Kroisel, P.; P. Wieacker, P.

2010-01-01

Campomelic dysplasia (MIM 114290) is a severe malformation syndrome frequently accompanied by male-to-female sex reversal. Causative are mutations within the SOX9 gene on 17q24.3 as well as chromosomal aberrations (translocations, inversions or deletions) in the vicinity of SOX9 . Here, we report on a patient with muscular hypotonia, craniofacial dysmorphism, cleft palate, brachydactyly, malformations of thoracic spine, and gonadal dysgenesis with female external genitalia and müllerian duct ...
Anesthetic management of a pediatric patient with hypohidrotic ectodermal dysplasia undergoing emergency surgery

Directory of Open Access Journals (Sweden)

Elif Oral Ahiskalioglu

2015-11-01

Full Text Available Ectodermal dysplasias are rare conditions with a triad of hypotrichosis, anodontia and anhidrosis. In literature review there have been only a few reports of anesthetic management of patients with ectodermal dysplasias. Hyperthermia is a very serious risk which may occur due to the defect of sweat glands. The present case involves a 10-year-old child with ectodermal dysplasia who presented with an acute abdomen and was considered for an emergency surgery. Our aim was to demonstrate the successful management of this case using a combination of general and epidural anesthesia. It is important for anesthesiologist to have information about this syndrome in case of emergency operations, since it can prevent serious complications and even save lives.
Anesthetic management of a pediatric patient with hypohidrotic ectodermal dysplasia undergoing emergency surgery

Directory of Open Access Journals (Sweden)

Elif Oral Ahiskalioglu

2015-12-01

Full Text Available ABSTRACT Ectodermal dysplasias are rare conditions with a triad of hypotrichosis, anodontia and anhidrosis. In literature review there have been only a few reports of anesthetic management of patients with ectodermal dysplasias. Hyperthermia is a very serious risk which may occur due to the defect of sweat glands. The present case involves a 10-year-old child with ectodermal dysplasia who presented with an acute abdomen and was considered for an emergency surgery. Our aim was to demonstrate the successful management of this case using a combination of general and epidural anesthesia. It is important for anesthesiologist to have information about this syndrome in case of emergency operations, since it can prevent serious complications and even save lives.
Case report of imaging analysis of the dysplasia epiphysealis hemimelic (Trevor's disease)

International Nuclear Information System (INIS)

Shu, Jang Ho; Cho, Kil Ho

2013-01-01

Trevor's disease, also known as dysplasia epiphysealis hemimelica, is a rare developmental disorder presented with epiphyseal overgrowth involving one or multiple epiphyses. Here we report the radiologic findings of two cases of dysplasia epiphysealis hemimelica in a 4-year-old boy in the knee without symptom and a 10-year-old boy in the ankle with pain. The former was observed for eight years and the latter was treated with surgical resection.
Screening for Developmental Dysplasia of the Hip

NARCIS (Netherlands)

Boere-Boonekamp, Magdalena M.; Verkerk, Paul H.

1998-01-01

The success rates of screening programmes for Developmental Dysplasia of the Hip (DDH) vary widely. Studies on screening programmes for DDH based on a Medline search for the years 1966–1997 are reviewed. The percentage treated in most studies, especially those using ultrasound, are high and suggest
Differential approach to planning of training loads in person with connective tissue dysplasia symptoms

Directory of Open Access Journals (Sweden)

Олег Борисович Неханевич

2015-05-01

Full Text Available Introduction. When dealing with issues of access and planning of training and competitive pressures special interest cause the person with signs of connective tissue dysplasia.Aim. Improvement of medical support of training process of athletes with signs of connective tissue dysplasia.Materials and methods. 188 athletes are examined, including 59 with signs of connective tissue dysplasia. There are made the basic group. Signs of systemic involvement of connective tissue are determined using anthropometry and somatoscopy. An echocardiographic examination is conducted for all athletes at rest and during bicycle ergometry in regenerative period conducted.Results. Underweight body, acromacria, hypermobility of joints and flat feet are often observed with signs of systemic involvement of connective tissue.During veloergometry it was established deterioration of myocardial relaxation during diastole core group of athletes while performing load average power, which led to a drop in ejection fraction at submaximal levels of exertion.Conclusions. Existence of connective tissue dysplasia in athletes with different prognosis states requires sports physicians an in-depth analysis and differential diagnosis of clinical forms in order to prevent complications during training and competitive pressures. Early signs of cardiac strain while performing physical activity in athletes with signs of connective tissue dysplasia were symptoms of myocardial relaxation on indicators of diastolic heart function. Ejection fraction at rest remained at normal levels

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