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Статті в журналах з теми "Facial dysmorphy"
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Labrune, P., J. C. Lange, P. Bedossa, J. L. Chaussain, and M. Odievre. "Congenital Hepatic Fibrosis, Cystic Kidneys, Mental Retardation, and Facial Dysmorphy." Journal of Pediatric Gastroenterology and Nutrition 10, no. 4 (May 1990): 540–43. http://dx.doi.org/10.1097/00005176-199005000-00019.
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Labrune, P., J. C. Lange, P. Bedossa, J. L. Chaussain, and M. Odievre. "Congenital Hepatic Fibrosis, Cystic Kidneys, Mental Retardation, and Facial Dysmorphy." Journal of Pediatric Gastroenterology and Nutrition 10, no. 4 (May 1990): 540–43. http://dx.doi.org/10.1002/j.1536-4801.1990.tb10041.x.
Повний текст джерелаАнотація:
SummaryThis report concerns a boy with congenital hepatic fibrosis, cystic kidneys, mental retardation, and minor dysmorphic features. These symptoms have rarely been reported before and indicate that congenital hepatic fibrosis may not be a single clinical entity.
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Cuturilo, Goran, Igor Stefanovic, Ida Jovanovic, Slobodanka Miletic-Grkovic, and Ivana Novakovic. "Mowat-Wilson syndrome: A case report." Srpski arhiv za celokupno lekarstvo 137, no. 7-8 (2009): 426–29. http://dx.doi.org/10.2298/sarh0908426c.
Повний текст джерелаАнотація:
Introduction. Mowat-Wilson syndrome (MWS) is characterised by severe mental retardation and multiple congenital anomalies. Key features for diagnosis are specific facial dysmorphism with uplifted ear lobes and Hirschsprung's disease. Ganglionic disorders of the colon, both the number of ganglion cells and the length of the aganglionic segment vary significantly in these patients. The disease is caused by ZFHX1B gene mutation. The management of MWS is symptomatic. Case outline. We report a four-year old boy with mental retardation, specific facial dysmorphy and multiple anomalies. During prenatal follow-up intrauterine growth retardation was revealed. Karyotype was normal. Clinical findings showed that growth and mental retardation, gastrointestinal disturbance and heart defect were predominant. A gastrostoma was inserted. Hypoganglionosis of the colon caused severe obstipation. He had a severe stenosis of the pulmonary artery and was a candidate for cardiac surgery. There were several attempts to establish diagnosis, but so far, without results. Conclusion. Hirschsprung's disease/hypoganglionosis of the colon associated with other congenital anomalies or mental retardation require evaluation for dysmorphic syndromes. One of them is MWS, presented in this report.
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Labrune, Philippe. "Absence of specific facial dysmorphy in glycogen storage disease type III." Clinical Dysmorphology 12, no. 3 (July 2003): 213. http://dx.doi.org/10.1097/00019605-200307000-00017.
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Labrune, Philippe. "Absence of specific facial dysmorphy in glycogen storage disease type III." Clinical Dysmorphology 12, no. 3 (July 2003): 213. http://dx.doi.org/10.1097/01.mcd.0000052342.43310.35.
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Chabchoub, E., J. R. Vermeesch, T. de Ravel, P. de Cock, and J.-P. Fryns. "The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15." Journal of Medical Genetics 45, no. 3 (October 22, 2007): 189–92. http://dx.doi.org/10.1136/jmg.2007.056176.
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Joksic, I., G. Cuturilo, A. Jurisic, S. Djuricic, B. Peterlin, M. Mijovic, Orlic N. Karadzov, A. Egic, and Z. Milovanovic. "Otopalatodigital syndrome type I: novel characteristics and prenatal manifestations in two siblings." Balkan Journal of Medical Genetics 22, no. 2 (December 21, 2019): 83–88. http://dx.doi.org/10.2478/bjmg-2019-0024.
Повний текст джерелаАнотація:
AbstractOtopalatodigital spectrum disorder (OPDSD) is rare group of X-linked disorders caused by mutations in the filamin A (FLNA) gene. It is characterized by skeletal dysplasia of variable severity and different extra skeletal manifestations. Its presentation in the fetal period is quite unspecific, so diagnosis is usually made after birth. We present prenatal ultrasonography and postmortem findings that led us to a diagnosis of the mildest form of OPDSD (OPD type I) in two consecutive pregnancies. This is the first report on prenatal diagnosis (PND) of OPD type I. Affected fetuses showed facial dysmorphy (hypertelorism, micrognathia, cleft palate) and digital anomalies, features typical of OPD type I. In addition, microphtalmia and early neonatal death due to severe respiratory distress syndrome are described as a novel characteristics of the disorder. Clinical exome sequencing revealed a hemizygous missense pathogenic variant in the FLNA gene (NM_ 001110556.1: c.620C>T). We suggest that the presence of hypertelorism, micrognathia, digital anomalies on prenatal ultrasound examination should alert suspicion to OPDSD. Detailed clinical examination of mother and other female relatives is of great importance in establishing definitive diagnosis of OPD type I.
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Chafai Elalaoui, Siham, Wiam Smaili, Julien Van-Gils, Patricia Fergelot, Ilham Ratbi, Mariam Tajir, Benoit Arveiler, Didier Lacombe, and Abdelaziz Sefiani. "Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome." African Health Sciences 21, no. 2 (August 2, 2021): 960–67. http://dx.doi.org/10.4314/ahs.v21i2.58.
Повний текст джерелаАнотація:
Background: Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is a rare autosomal dominant developmental disorder with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical face, broad thumbs and halluces, short stature, and intellectual disability. Facial dysmorphy is characteristic with microcephaly, low frontal hairline, arched eyebrows, long eyelashes, convex profile of nose, narrow palate, and micrognathia. RSTS is mainly due to mutations or microdeletions of the CREBBP gene (about 60%) and more rarely of the EP300 gene (8%).
Objective: Clinical description and identification of mutations of patients with Rubinstein Taybi syndrome.
Methods: PCR and direct sequencing of CREBBP gene.
Results: We report here, the clinical and molecular data of a series of six Moroccan patients with a phenotype of RSTS. The molecular study of the major gene CREBBP (by Sanger Sequencing followed by CGH array, if sequence normal) revealed point mutations in five patients. For the sixth patient, CGH array revealed a microdeletion carrying the CREBBP gene. Through this work, we emphasize the importance of clinical expertise in the diagnosis, management and genetic counseling in Rubinstein Taybi syndrome.
Keywords: Rubinstein Taybi syndrome; CREBBP gene; mutation; Moroccan.
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Türk, Cemre Büşra, Fatima N. Mirza, and George Kroumpouzos. "A Screening Proposal for Zoom Dysmorphia in Virtual Settings." Life 13, no. 8 (August 2, 2023): 1678. http://dx.doi.org/10.3390/life13081678.
Повний текст джерелаАнотація:
Zoom dysmorphia (ZD) is a facial dysmorphia that is triggered or aggravated by frequent virtual meetings. The frequent use of videoconferencing platforms has been linked to a distorted perception of facial images as individuals have an increased awareness of their appearance, given constant video feedback. As a result, dysmorphic concerns can develop. It is crucial to identify ZD as this condition interferes with an individual’s life and can trigger or aggravate body dysmorphic disorder (BDD). A standardized approach for screening ZD in non-psychiatric settings has yet to be defined. We discuss the features of ZD and the challenges of screening for ZD in a virtual setting. To facilitate the recognition of ZD in telehealth consultations, we propose a comprehensive ZD screening questionnaire that includes questions related to typical ZD features and a BDD-focused question. The questionnaire is concise and allows the identification of individuals with a potential ZD. A BDD assessment in such individuals should follow.
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Boztug, Kaan, Philip S. Rosenberg, Marie Böhm, Thomas Moulton, Julie Curtin, Nima Rezaei, John Corns, et al. "Extended Molecular and Clinical Phenotype of Human G6PC3 Deficiency." Blood 116, no. 21 (November 19, 2010): 1495. http://dx.doi.org/10.1182/blood.v116.21.1495.1495.
Повний текст джерелаАнотація:
Abstract Abstract 1495 Severe congenital neutropenia (SCN) is a heterogenous group of disorders characterized by an increased susceptibility to bacterial infections. Recently, our discovery of G6PC3 deficiency in 12 patients with SCN and various developmental features highlighted the role of glucose metabolism in the viability of neutrophil granulocytes. To further delineate the molecular and clinical phenotype of this complex syndrome, we analyzed a second cohort of 23 SCN patients referred to us for molecular analysis of G6PC3 mutations. All patients had at least one syndromic feature in addition to congenital neutropenia such as such as congenital heart defects, urogenital malformations or increased venous marking. Among these 23 patients, we identified 14 patients with biallelic mutations in G6PC3. 10 patients had novel mutations in G6PC3. A comprehensive review of the clinical characteristics of these patients underlined the phenotypic variability of G6PC3 deficiency. In addition to known manifestations including cardiac (14/14) and urogenital malformations such as cryptorchidism (3/14), novel features such as facial dysmorphy (11/14) or malformation of the outer genitalia (4/14) were found. No obvious genotype-phenotype correlations could be established. All patients except one had a good response to treatment with G-CSF characterized by increased peripheral neutrophil counts and decreased frequency and severity of infections. To assess the risk of leukemogenesis, we performed a meta-analysis comparing the 14 G6PC3-deficient SCN patients combined with the 12 patients in the original publication with a cohort of 374 patients SCN patients bearing mutations in ELANE or HAX1, in which 61 developed MDS or AML. The rate of MDS/AML was found to be significantly lower in G6PC3-deficient patients (p=0.02). Our analysis suggests that the risk of transition to MDS/AML may be lower in G6PC3-deficient SCN compared with other genetically defined SCN subgroups. Disclosures: No relevant conflicts of interest to declare.
Дисертації з теми "Facial dysmorphy"
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Zanetti, Andrea. "Genetic deciphering of early onset and severe retinal dystrophies and establishment of genotype/phenotype correlations." Electronic Thesis or Diss., Université Paris Cité, 2024. https://wo.app.u-paris.fr/cgi-bin/WebObjects/TheseWeb.woa/wa/show?t=7893&f=78266.
Повний текст джерелаАнотація:
Les dystrophies rétiniennes sévères et précoces (EOSRD) et l'amaurose congénitale de Leber (ACL - MIM204000) sont les principales causes de cécité incurable chez les enfants. Ces maladies, variables sur le plan clinique, génétique et physiopathologique, peuvent être le signe de syndromes multisystémiques, tels que les ciliopathies. Elles se transmettent le plus souvent de manière autosomique récessive et l'implication de plusieurs gènes a été confirmée. Cependant, l'histoire et l'expression clinique de l'ACL sont imparfaitement comprises et de nombreuses mutations restent inconnues. Il est nécessaire de continuer à déchiffrer ces aspects pour affiner la compréhension de la physiopathologie. L'identification de nouveaux gènes responsables et les corrélations génotype-phénotype sont essentiels à la prise en charge des patients. Grâce au séquençage à haut débit des gènes connus de l'ACL/EOSRD et aux investigations dans les centres de référence cliniques, le Laboratoire de génétique ophtalmologique (LGO) a identifié les causes moléculaires de la maladie dans plus de 80 % des cas dans une cohorte de plus de 700 familles. À ce jour, 40 familles de ACL/EOSRD non résolues ont été soumises au séquençage de l'exome entier (WES), ce qui a permis d'identifier des gènes candidats, sélectionnés en vue d'une validation fonctionnelle. Des variants délétères de GPATCH11 ont été identifiés dans six familles comprenant 12 individus atteints de dystrophie rétinienne, présentant des troubles neurologiques et des anomalies squelettiques, fournissant des arguments forts que des mutations récessives dans le gène GPATCH11 sont responsables de la maladie. GPATCH11 est l'une des protéines contenant le domaine G-patch la moins étudiée, connues pour contribuer au spliceosome. Quatre mutations récessives ont été identifiées, avec la mutation du site d'épissage NM_174931.4 : c.328+1G>T commune à quatre familles sur six et affectant le site d'épissage consensus de l'intron 4, ce qui entraîne l'exclusion de l'exon 4 du transcrit sans rupture du cadre de lecture, produisant ainsi une protéine plus courte. La protéine GPATCH11, dans sa forme sauvage ou mutée, est localisée à la fois, de façon diffuse dans le nucléoplasme et dans le centrosome des cils primaires des fibroblastes, suggérant des rôles dans le métabolisme de l'ARN et des cils. Le modèle de souris (Gpatch11delta5/delta5) généré à l'Institut Imagine, portant la délétion de l'exon 5 équivalent à l'exon 4 de GPATCH11 humain, reproduit les défauts phénotypiques des patients, avec la présence d'une dystrophie rétinienne et des anomalies comportementales. Le transcriptome de la rétine a identifié des voies dérégulées dans l'expression et l'épissage des gènes, impactant des processus clés tels que les réponses à la lumière des photorécepteurs, la régulation de l'ARN et le métabolisme associé aux cils primaires. L'analyse par spectrométrie de masse a trouvé des protéines régulées à la baisse impliquées dans la perception visuelle, la fonction synaptique et les mécanismes de liaison et d'épissage de l'ARN, et des protéines régulées à la hausse impliquées principalement dans le métabolisme et l'épissage de l'ARN (Publication 1). En outre, l'implication de GPATCH11 dans le cerveau est en cours d'exploration par immunomarquage et analyse transcriptomique/protéomique, en se concentrant sur l'hippocampe, structure cérébrale responsable de la mémoire. Les souris Gpatch11delta5/delta5 sont viables et se développent normalement, toutefois les mâles sont complètement infertiles et présentent des testicules plus petits que la normale et vides, dont la cause est en cours d'étude en collaboration avec un laboratoire externe (Part 2A, B)Early onset retinal dystrophies (EOSRD) and Leber congenital amaurosis (LCA - MIM204000) are the leading cause of incurable blindness in children. These diseases, clinically, genetically, and pathophysiologically variable, can be the sign of multisystemic syndromes, such as ciliopathies. They are mostly inherited in autosomal recessive manner, and several genes have been confirmed to be involved. However, the history and clinical expression of LCA are imperfectly understood and many mutations remain unknown. There is a need to continue deciphering these aspects to refine the understanding of pathophysiology. The identification of new responsible genes and the genotype-phenotype correlations are essential for disease management. Thanks to high-throughput gene panel-based sequencing of known LCA/EOSRD genes and investigation in clinical reference centres, the Laboratory of Genetics in Ophthalmology (LGO) has identified the molecular causes of the disease in more than 80% of cases in a cohort of over 700 families. To date, 40 unresolved LCA/EOSRD families have been submitted to whole exome sequencing (WES), leading to the identification of candidate genes, which have been selected for functional validation. Deleterious GPATCH11 variants have been identified in six families comprising 12 affected individuals with retinal dystrophy, exhibiting neurological disorders and skeletal anomalies, providing compelling evidence that recessive mutations in the GPATCH11 gene are responsible for the disease. GPATCH11 is one of the lesser-explored G-patch domain containing proteins, which are known to contribute to the spliceosome. Four recessive mutations were identified, with the splice-site NM_174931.4: c.328+1G>T being common to four out of six families and affecting the consensus splice site of intron 4, causing exon 4 to be excluded from the transcript without breaking the reading frame and producing a shorter protein. Both wild-type and mutated GPATCH11 proteins are localised in the nucleoplasm with a diffuse pattern and in the centrosome of the primary cilia of fibroblasts, suggesting roles in RNA and cilia metabolism. The mouse model (Gpatch11delta5/delta5) generated at the Institute Imagine, carrying the deletion of exon 5 equivalent to exon 4 of human GPATCH11, replicates the patients' phenotypic defects, such as retinal dystrophy and behavioural abnormalities. Retina transcriptome analysis identified deregulated pathways in gene expression and splicing, impacting key processes, such as photoreceptor light responses, RNA regulation, and primary cilia-associated metabolism. Mass-spectrometry analysis found downregulated proteins involved in vision perception, synaptic function and RNA binding and splicing pathways, and upregulated proteins mostly involved in RNA processing and splicing (Publication 1). Furthermore, the involvement of GPATCH11 in the brain is currently being explored through immunostaining and transcriptome/proteome analysis, focusing on the hippocampus, a brain structure responsible for memory. Gpatch11delta5/delta5 mice are viable and develop normally, except that males are completely infertile and exhibit smaller than normal and empty testis. The cause of this infertility is under investigation in collaboration with an external laboratory (Part 2A, B)
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SPITALIER, PHILIPPE. "Chirurgie plastique de la dysmorphie cranio-faciale de l'acromegalie." Lyon 1, 1992. http://www.theses.fr/1992LYO1M248.
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Oueiss, Arlette. "Les rapports tridimensionnels de la base du crâne et du massif maxillo-facial : intérêts en orthodontie et anthropobiologie." Toulouse 3, 2010. http://thesesups.ups-tlse.fr/1295/.
Повний текст джерелаАнотація:
La littérature accorde un intérêt soutenu à l'étude des relations entre la morphologie basi-crânienne et les dysmorphies maxillo-faciales ou les malocclusions. Le but de ce travail est double : d'abord nous voulions analyser la forme basi-crânienne et ses rapports avec les schémas maxillo-faciaux ou les malocclusions. Ensuite nous voulions analyser la morphologie maxillo-faciale et ses relations avec les malocclusions. Nous avons utilisé les données scanner de 312 patients sélectionnés comme ayant des pathologies importantes " limite chirurgicale " et analysé ces donnée par deux méthodes : les procédés de la morphométrie géométrique et une analyse maxillo-faciale spécifique élaborée à Toulouse. Nous pouvons conclure à propos des deux principales questions : * La configuration basi-crânienne n'est pas significativement corrélée avec les différents types de malocclusion, elle reste très stable et elle ne joue aucun rôle étiologique dans le développement des malocclusions. * Au contraire, des schémas maxillo-faciaux spécifiques correspondant aux différentes malocclusions peuvent être décrits avec précisionThere is an interest in the recent literature about the relationship between cranial base configuration and facial disharmonies or malocclusions, the conclusions of which are contradictory, due to small sample size and very poor methodology to appreciate cranial base shape. The aims of this work are double, the analyze of the cranial base configuration and its relationships with maxillo-facial schemes or malocclusion and the analyze of the maxillo-facial shape and its relationships with malocclusions. 312 patients selected with great pathologies "border line surgery" were used in this study and 3D method was applied, the morphometric geometry processes and a specific 3D maxillo-facial analysis elaborated in Toulouse. The results revealed two interesting finding, the basicranial configuration is not significantly correlated with types of malocclusion, it is remarkably stable, and it does not play any etiologic role in malocclusion appearance, and on the contrary, maxillofacial specific configurations, corresponding to different types of malocclusion, can be described precisely
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Wagner, Felipe Rocha. "Análise antropométrica semiautomática em imersão para pesquisa e diagnóstico clínico de síndromes dismórficas." Universidade do Vale do Rio dos Sinos, 2017. http://www.repositorio.jesuita.org.br/handle/UNISINOS/6287.
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PROSUP - Programa de Suporte à Pós-Gradução de Instituições de Ensino Particulares
A compreensão da morfologia facial, seja pela visualização ou pela antropometria, é uma questão importante para o diagnóstico clínico e estudo de síndromes dismórficas. Quando não é possível ter acesso ao paciente, fotografias 2D podem ser utilizadas como um meio de visualização e análise antropométrica, ainda que limitada a um único ponto de vista por imagem e pela perda da dimensão de profundidade, o que não ocorre em imagens 3D. Este trabalho propõe um modelo de antropometria digital e análise imersiva de modelos 3D visando auxiliar a pesquisa e o diagnóstico clínico de síndromes dismórficas. Um total de 59 crianças afetadas por Zika Congênita foram analisadas. Foram coletados modelos 3D da cabeça e 13 medidas antropométricas craniofaciais de cada paciente. Para obtenção das medidas antropométricas foram utilizadas duas abordagens, o método manual tradicional com uso do paquímetro e o método computacional proposto neste trabalho. A diferença média das medidas do método proposto em relação com o método tradicional ficou abaixo de 1mm para a maioria das medidas consideradas, sendo a maior diferença média próxima de 3mm. Na comparação de ambos, o método proposto apresentou resultados compatíveis com o tradicional além de apresentar algumas vantagens em relação à antropometria manual.
The understanding of facial morphology, either by visualization or by anthropometry, is an important issue for the clinical diagnosis and the study of dysmorphic syndromes. When it is not possible to have access to the patient, 2D photographs can be used as a means of visualization and anthropometric analysis, although limited to a single point of view per image and the loss of the depth dimension, which does not occur in 3D images. This work proposes a model of digital anthropometry and immersive analysis of 3D models aiming to aid the research and clinical diagnosis of dysmorphic syndromes. A total of 59 children affected by Congenital Zika were analyzed. 3D models of the head and 13 craniofacial anthropometric measurements of each patient were collected using two approaches, the traditional manual method with the use of the caliper and the computational method proposed in this study. The average difference of the measurements of the proposed method in relation to the traditional method was below 1mm for most of the measures considered, with the largest average difference being close to 3mm. When comparing both, the proposed method presented results compatible with the traditional one also presenting some advantages over manual anthropometry.
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Uguen, Arnaud. "Bilan des lésions foetales et placentaires rencontrées au cours de l'exposition à l'alcool in utero." Brest, 2009. http://www.theses.fr/2009BRES3027.
Повний текст джерелаАнотація:
Les effets de l'alcoolisation maternelle sur le foetus sont un véritable problème de santé publique. Leur prévention passe par une identification des patientes à risque de consommation excessive, ce dépistage difficile, avant tout clinique, pouvant s'aider de paramètres biologiques mais aussi des apports de l'anatomie pathologique en terme d'examen placentaire et parfois foetopathologique. Cette étude basée sur 67 examens placentaires et 15 examens foetaux décrit les lésions placentaires parfois évocatrices d'un tableau d'exposition foetal à l'alcool et les différents syndromes liés à l'alcoolisation foetale dont le syndrome d'alcoolisation foetale et les anomalies congénitales liées à l'alcool sont des diagnostic possible en foetopathologie dès les premières semaines de la vie, selon des critères proches de ceux utilisés en pédiatrie. En dehors d'une synthèse concernant la tératogénicité de l'alcool sur un plan descriptif mais aussi physiopathologique, cette étude conclut sur la nécessité de diagnostiquer ce trouble addictif maternel afin d'assurer un prise en charge adaptée du couple mère-enfant et de prévenir les récidives d'une pathologie fréquente, grave, souvent méconnue et pourtant curable.
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Buhlmann, Ulrike [Verfasser]. "Cognitive biases in body dysmorphic disorder : studies on interpretation and facial recognition / vorgelegt von Ulrike Buhlmann." 2003. http://d-nb.info/972799621/34.
Повний текст джерелаКниги з теми "Facial dysmorphy"
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Buhlmann, Ulrike, and Andrea S. Hartmann. Cognitive and Emotional Processing in Body Dysmorphic Disorder. Edited by Katharine A. Phillips. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780190254131.003.0022.
Повний текст джерелаАнотація:
According to current cognitive-behavioral models, body dysmorphic disorder (BDD) is characterized by a vicious cycle between maladaptive appearance-related thoughts and information-processing biases, as well as maladaptive behaviors and negative emotions such as feelings of shame, disgust, anxiety, and depression. This chapter provides an overview of findings on cognitive characteristics such as dysfunctional beliefs, information-processing biases for threat (e.g., selective attention, interpretation), and implicit associations (e.g., low self-esteem, strong physical attractiveness stereotype, and high importance of attractiveness). The chapter also reviews face recognition abnormalities and emotion recognition deficits and biases (e.g., misinterpreting neutral faces as angry) as well as facial discrimination ability. These studies suggest that BDD is associated with dysfunctional beliefs about one’s own appearance, information-processing biases, emotion recognition deficits and biases, and selective processing of appearance-related information. Future steps to stimulate more research and clinical implications are discussed.
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Johnston, Michael V. Coffin-Lowry Syndrome. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0057.
Повний текст джерелаАнотація:
Coffin-Lowry syndrome (CLS) is a relatively rare (1:50,000-100,000 incidence) sex-linked neurodevelopmental disorder that includes severe intellectual disability, dysmorphic features including facial and digital abnormalities, growth retardation, and skeletal changes. Most cases are sporadic with only 20% to 30% of cases having an additional family member. CLS is caused by variable loss of function mutations in the RPS6KA3 gene that maps to Xp22.2 and codes for the hRSK2 S6 kinase that phosphorylates the transcription factor CREB (cAMP response element binding protein) as well as other nuclear transcription factors. Phosphorylated CREB (pCREB) plays a major role in memory formation in fruit flies and mammals by activating specific genes through epigenetic histone acetylation.
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Lopez-Arvizu, Carmen, Carmel Bogle, and Harolyn M. E. Belcher. Neurobiology of Fetal Alcohol Spectrum Disorders. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0179.
Повний текст джерелаАнотація:
Prenatal exposure to ethanol can result in a wide range of clinical presentations that are grouped under the term “Fetal Alcohol Spectrum Disorders” (FASD). The direct cellular teratogenic effects of ethanol on fetal neurodevelopment include damage to cell survival, proliferation, and migration mechanisms. Dysregulation of neurotransmission and alteration of genetic transcription have also been implicated in the neurotoxic effects of prenatal ethanol exposure. These deleterious events lead to brain volume reduction, corpus callosum dysgenesis, cerebellar, and other neuroanatomical anomalies that have been observed in individuals with FASD. Beyond direct ethanol-induced insults, the impact that ethanol has on maternal nutrition, metabolism, hormonal regulation, and placental physiology also adversely effects fetal development. The complex interactions between numerous neurobiological and psychosocial mechanisms that hinder optimal fetal neurodevelopment are reflected by the heterogeneous clinical presentation of FASD, including impaired growth, dysmorphic facial features, and cognitive and behavioral disorders.
Частини книг з теми "Facial dysmorphy"
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Shiffman, Melvin A. "Body Dysmorphic Disorder." In Advanced Surgical Facial Rejuvenation, 123–25. Berlin, Heidelberg: Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/978-3-642-17838-2_12.
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El-Darouti, Mohammad Ali. "Dysmorphic Facies, Tight Skin and Early Death." In Challenging Cases in Dermatology, 441–46. London: Springer London, 2012. http://dx.doi.org/10.1007/978-1-4471-4249-2_62.
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Brzezinski, Piotr, and Katarzyna Borowska. "Low-Birthweight Dwarfism with Features Include Cranio-Facial Disproportion, Facial Dysmorphia, Lateral Asymmetry and Clinodactyly." In Clinical Cases in Dermatology, 85–88. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-91526-1_20.
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Guran, Tulay. "Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, and Myopathy (GDRM)." In Genetic Syndromes, 1–4. Cham: Springer International Publishing, 2024. http://dx.doi.org/10.1007/978-3-319-66816-1_1321-1.
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Eymard, Bruno, and I. Dobon. "Missed diagnosis in myotonic dystrophy: frequency, characteristics, consequences, and how to prevent it." In Myotonic dystrophy: present management, future therapy, 49–57. Oxford University PressOxford, 2004. http://dx.doi.org/10.1093/oso/9780198527824.003.0004.
Повний текст джерелаАнотація:
Abstract Myotonic dystrophy is one of the most frequent muscular dystrophies in adults, with a prevalence of around of 5 per I 00 000 (Harper and Rudel 1994). The clinical features include myotonia, distal weakness and systemic symptoms (cataract, atrio-ventricular block, dysrhythmias, endocrine dysfunction, mainly diabetes, and central nervous dysfunction). The diagnosis is theoretically easy for physicians if considered in the context of autosomal dominant inheritance, with a characteristic combination of muscular and extramuscular signs (Harper 2001 ). However, the diagnosis of myotonic dystrophy can be problematic for the following reasons: (I) difficulty in identifying specific symptoms as myotonia; (2) prominent systemic manifestations requiring initial advice from specialists other than neurologists; and (3) the occurrence of neonatal and infantile forms of myotonic dystrophy that may have a very atypical clinical presentation, with mental retardation and facial dysmorphy, whereas classical signs such as myotonia and distal weakness are absent before adolescence or early adulthood. In this chapter, our objective is to describe the features of misdiagnosis in myotonic dystrophy: the frequency of misdiagnosis, the nature of unrecognized symptoms, the categories of physicians involved, and the consequences of ignored diagnosis. First we present the French experience concerning a series of myotonic dystrophy patients assessed for missed diagnosis. Principles of a strategy for a proper and early diagnosis are proposed in the second section. Unless stated otherwise, all information given here refers to patients with the CTG expansion mutation.
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Amiel-Tison, Claudine, and Julie Gosselin. "Une Dysmorphie Crânio-Faciale." In Démarche clinique en neurologie du développement, 237–46. Elsevier, 2009. http://dx.doi.org/10.1016/b978-2-294-70270-9.50024-4.
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Phillips, Katharine A. "Cosmetic Treatments: Surgery, Dermatologic, Dental, and Other Treatments." In Understanding Body Dysmorphic Disorder, 233–42. Oxford University PressNew York, NY, 2009. http://dx.doi.org/10.1093/oso/9780195379402.003.0013.
Повний текст джерелаАнотація:
Abstract Even though there are effective treatments for body dysmorphic disorder (BDD), most people seek and receive treatments that don’t seem to work. These treatments include surgery, dermatologic treatment, and other cosmetic treatments, such as dental treatment to fix “ugly” teeth. Other people get electrolysis to remove unwanted facial or body hair, join hair clubs, and try other remedies. This can waste lots of time and money. Even more concerning, people with BDD often end up bitterly disappointed when these procedures don’t give them the relief they’re so desperately seeking.
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Herpers R., Rodax H., and Sommer G. "A Neural Network Identifies Faces with Morphological Syndromes." In Studies in Health Technology and Informatics. IOS Press, 1993. https://doi.org/10.3233/978-1-60750-854-0-481.
Повний текст джерелаАнотація:
The diagnosis of craniofacial dysmorphic signs hasa high medical importance. Physicians specialized on human genetics need to get quick reliable information about dysmorphic syndromes characterized by facial abnormalities to give a prognosis about the risk of incidence for following children. In numerous cases of dysmorphic syndromes no chromosomal aberration can be found. Therefore the dysmorphic diagnosis is based on an extensive phenotyp analysis of craniofacial signs. In this study we investigate an artificial neural network approach to identify face images with morphological abnormalities. Different full-connected multi-layer perceptrons (MLP) are trained only with a small set of observations using back-propagation as learning algorithm. The gray level images are sampled, preprocessed and scaled to a size of 55 x 72 pixel. The best results are achieved with a network architecture of 4 hidden and 2 output units. The individual classification error of each investigated network architecture is calculated by the leaving-one-out method. The average classification error was 5 %, the best percentage of correct identifications of one network architecture reached 100 %. The presented results show that classifications generated by aritificial neural networks based on small sets of training examples are able to support a dysmorphic diagnosis.
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Mccandless, Shawn E., and Suzanne B. Cassidy. "DNMT3B and the Immunodeficiency–Centromeric Instability–Facial Anomalies Syndrome." In Inborn Errors Of Development, 974–77. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0106.
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Abstract ICF syndrome (OMIM 242860) is a rare recessive autosomal disease characterized by variable combined immunodeficiency (I), centromeric instability (C) and facial anomalies (F) (Hultn, 1978; Tiepolo et al., 1978, 1979). The dysmorphic facial features include hypertelorism, low-set ears, micrognathia, a 8at nasal bridge, and an epicanthus. The unusually decondensed and juxtacentromeric heterochromatin of chromosomes 1 and 16 and, less frequently, chromosome 9 is abnormally hypomethylated in all ICF tissues. The hypomethylated classical satellite 2 is the preferential breakpoint for the deletions and duplications of chromosome arms observed in the lymphocyte cells of patients with ICF. This syndrome can be diagnosed on the basis of these characteristic chromosome abnormalities and the variable immunodeficiency associated with life-threatening infections. The ICF locus has been mapped to 20q11-13, and mutations have been observed in the DNMT3B gene in several patients. The DNMT3B (ICF) gene is required for de novo methylation and normal development.
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Hämäläinen, Riikka, Niklas Karlberg, Jukka Kallijärvi, Marita Lipsanen-Nyman,, and Anna-Elina Lehesjoki. "TRIM37 and Mulibrey Nanism." In Inborn Errors Of Development, 1540–43. Oxford University PressNew York, NY, 2008. http://dx.doi.org/10.1093/oso/9780195306910.003.0180.
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Abstract Mulibrey nanism (muscle-liver-brain-eye nanism; OMIM 253250) is a rare prenatal-onset growth restriction disorder with progressive cardiopathy and dysmorphic facial features. It was first described in Finland in the early 1970s (Perheentupa et al., 1970, 1973). The first suspected mulibrey nanism patients from outside of Finland were described in 1976 (Cumming et al., 1976; Voorhess et al., 1976). Molecular genetic studies on mulibrey nanism were initiated in the mid 1990s and resulted in the identification of the underlying TRIM37 gene in 2000 (Avela et al., 2000). At present, a total of 90 Finnish and 14 nonFinnish patients with a molecularly confirmed diagnosis of mulibrey nanism are known.
Тези доповідей конференцій з теми "Facial dysmorphy"
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Sánchez-Albisua, Iciar, Nuria Brämswig, Adela Marina, Heike Kölbel, Katrin Rupprich, Alma Küchler, Tim Strom, Hermann Luedecke, Dagmar Wieczorek, and Ulrike Schara. "P 308. Autosomal Recessive Mutations in the NALCN Gene: A Rare Cause of a Severe Developmental Disorder with Facial Dysmorphia, Epilepsy and Cheyne–Stokes/Biot’s Respiration with Central Apneas." In Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1675994.
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Elias, Stefany, and Maria Luiza Benevides. "Verheij syndrome: a rare cause of intellectual disability." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.560.
Повний текст джерелаАнотація:
Case presentation: A 4-year-old boy was born to non-consanguineous parents at 38 weeks. Neonatal anthropometric measurements were normal. Since birth, he presented with global developmental delay, and muscular hypotonia. At present, he shows adequate psychosocial interaction. He has a healthy 3-year-old sister. On physical examination, there are dysmorphisms, such as prominent and pointed ears, long eyelashes, elongated face, flat occipital region, supernumerary teeth, and maxillary hypoplasia. His anthropometric measurements are normal for his age (p50). On neurological examination, he presents with apraxia of speech, axial and appendicular hypotonia, and reduced deep tendon reflexes. Brain magnetic resonance imaging showed a slight thinning of the corpus callosum and mild ectasia of the lateral ventricles. Transthoracic echocardiography and ultrasound of the kidneys and urinary tract were normal. On genetic investigation, no abnormalities were found in karyotype and CGH-Array. Whole exome sequencing showed a pathogenic variant in the PUF60 gene (c.24+1G>C) in heterozygosis. Thus, the patient was diagnosed with Verheij syndrome. The patient is accompanied by physiotherapy, speech therapy, occupational therapy, and a psychopedagogy group. Discussion: Verheij syndrome is a rare condition caused by variants in the PUF60 gene, which encodes a component of the spliceosome. This syndrome is characterized by intellectual disability, delayed growth and neuropsychomotor development, facial dysmorphic features, and osteoarticular abnormalities. Also, there may be heart and kidney disorders. The spectrum of this disease’s manifestations and severity still need to be further explored in future studies, as well as the treatment and prognosis of this condition. Multidisciplinary support is essential for managing the consequences of the disease. This case report reinforces the leveraged importance that genetics has had in the diagnosis of intellectual disabilities.
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Oliveira, Jefferson Borges de, Caroline Berthier Zanin, Gustavo Carreira Henriques, Maiévi Liston, Rafael Glória Zatta, Rodrigo de Faria Martins, and Tatiana Pizzolotto Bruch. "Pallister-Hall Syndrome - case report." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.575.
Повний текст джерелаАнотація:
In 1980, Hall et all described a syndrome characterized by “hamartoblastoma”, hypopituitarism, unperfurated anus, polydactyly postaxial and numerous visceral anomalies, today known as Pallister-Hall Syndrome. On the study, Hall et all reported six cases of children with that malformation syndrome - lethal on neonatal period. None of the newborns had anterior hypophysis and the hypothalamic tumor was apparent in the inferior part of the brain, going from the optic chiasm to the interpeduncular fossa. Besides, other anomalies were found, such as: laryngeal split, abnormal pulmonary lobation, renal agenesis or dysplasia, shorts fourth metacarpals, nail dysplasia, multiple mouth frenulum, hypoadrenalism, congenital cardiomyopathy and intrauterine growth retardation. Every case was sporadic, the chromosome were apparently normal, without consaguinity relations. Several similar, milder and even asymptomatic cases were described later on. Kletter and Biesecker (1992), Topf et all (1993) and Penman Splitt et all (1994), define the disease as dominant autosomal inheritance. Kettler and Biesecker (1992) stated that most cases as sporadic as a result of a gene mutation with variable expressiveness. According to Biesecker et al (1996), an international workshop determined diagnostic criteria to the Syndrome: Hypothalamic Hamartroma and Central Polydactyly; First degree relative with hypothalamic hamartroma and polydactyly; Dominant autosomal parrent inheritance or in a consistent form with germaine mosaicism. The radiological changes are important for differential diagnosis between Pallister-Hall Syndrome and other hamartroma-present diseases. The hypothalamic hamartroma isolated has phenotypical features and causes hormonal disorders such as early puberty. On the MRI (Magnetic resonance imaging) it shows hyperintese sign on attenuated fluid. On the other hand, the Pallister-Hall Syndrome the hamartroma shows itself as a isointense signs along with other deformities as polydactyly, for example. According to Kuo et al (1999), on MRI, the classic hypothalamic hamartroma isn’t calcified, is homogenous and isointense to the grey matter on weight images in T1, and isointense and often hyperintense on weight images in T2. Those findings are pretty distinctive and help distinguish the hypothalamic hamartroma from ordinary lesions, as craniopharyngioma and hypothalamic/opticalchiasmic glioma, observed in children. Case report: The patient ALDV, male, born in 30/12/1995, was referred to evaluation on the Medical Genetic Service from HCPA. At the time, aged one year and 8 months, he was the only son of a young, healthy couple with no consanguinity. The family history of similar cases or other genetic pathologies are unknown. The prenatal happened with no intercurrences, unless the smoking mother. It was a natural birth; Birth Weight: 2kg; High: 42cm; PC: 32cm. APGAR 9. At 8 months, starts an investigation for precocious puberty, and a karyotype was performed in her hometown: 46, XY (normal). He presents convulsive crises since one year old. DNPM: cephalic support when he had 8 months, sat without support at the age of one. Physical examination: Head circumference in the 97th percentile, length above the 97th percentile. Good general condition, dysmorphic, facies with fusion of eyebrows (sinofre), epicanthus, small nose, dysplastic ears with a broad shield, three café-au-lait spots on the body. Presence of pubic hair. Increase in length and diameter of the penis, as well as of the testicles, in relation to chronological age. In the hands, significant brachydactyly with bitateral hexadactyly. In the feet, bilateral hexadactyly. Proximal cutaneous syndactyly between the 2nd and 3rd bilateral arthroids, mainly on the right. Additional exams: Rx of hands and wrists for bone age: 7 years; Chronological Age: 1 year and 10 months. Normal abdominal ultrasound; Computed Tomography of Skull/Magnetic Resonance of Skull: hypothalamic expansive lesion (3 cm), compatible with hamartoma; triventricular hydrocephalus; Cavum septum pellucidum. Endocrinological Evaluation: compatible with precocious puberty of central cause. High resolution karyotype: 46, XY (normal). Computed tomography of the brain: Examination for neurological control, performed on 10/12/2014, 18-year-old patient. It was observed solid nodular formation in the hypothalamic region, hypodense, with well-defined limits, in close contact with the mesencephalon, without impregnation by contrast medium administered intravenously, measuring about 2.9 X 2.4 X 3.0 cm, in the respective laterolateral, anteroposterior and craniocaudal planes, which in correlation with the patient’s clinical history may be related to hypothalamic Hamartoma.