نتایج جستجو برای: facial dysmorphism
تعداد نتایج: 60752 فیلتر نتایج به سال:
Objective Antiepileptic drugs (AED) have chronic teratogenic effects, the most common of which are congenital heart disease, cleft lip/palate, urogenital and neural tube defects. The aim of our study is to examine teratogenic effects of AED and the correlation between these malformations and AED in single or multiple pregnancies. Methods This is a retrospective study of malformations in child...
De novo heterozygous mutations in HRAS cause Costello syndrome (CS), a condition with high mortality and morbidity in infancy and early childhood due to cardiac, respiratory, and muscular complications. HRAS mutations predicting p.Gly12Val, p.Gly12Asp, and p.Gly12Cys substitutions have been associated with severe, lethal, CS. We report on molecular, clinical, and pathological findings in patien...
Sleep and Hypnosis A Journal of Clinical Neuroscience and Psychopathology Online Ahead of Print Copy
Hypnotic focused analgesia, comparable to chemical local anesthesia, has been widely documented in our Laboratory after hypnotic suggestions. This study is aimed at producing hypnotic local anesthesia suggesting that a hand does not belong to the body (body dysmorphism) without any direct suggestions of analgesia. Eight healthy, highly hypnotizable volunteers underwent a cold pressor test keepi...
Bone morphogenetic protein (BMP) receptor type 1A (BMPR1A) mutations are associated with facial dysmorphism, which is one of the main clinical signs in both juvenile polyposis and chromosome 10q23 deletion syndromes. Craniofacial development requires reciprocal epithelial/neural crest (NC)-derived mesenchymal interactions mediated by signaling factors, such as BMP, in both cell populations. To ...
Abstract Background Joubert syndrome (JS) is a rare autosomal recessive genetic heterogeneously inherited disorder characterized by neurological features that include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. Case presentation The main purposes of the case report are to highlight benefit multidisciplinary rehab...
Many pathogenic structural variants of the human genome are known to cause facial dysmorphism. During the past decade, pathogenic structural variants have also been found to be an important class of genetic risk factor for epilepsy. In other fields, face shape has been assessed objectively using 3D stereophotogrammetry and dense surface models. We hypothesized that computer-based analysis of 3D...
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