![]() A second magnetic resonance imaging, performed when he was 3 years old, revealed diffuse involvement of the substantia nigra and hyperintense lesions of the central tegmental tract in addition to previous lesions. In the second child, at the age of 2 the first magnetic resonance imaging documented heavy brainstem and subthalamic nuclei involvement. His second magnetic resonance imaging at 2 years old revealed a symmetric T2 prolongation involving the subthalamic nuclei, substantia nigra, and medulla lesions. The first patient's magnetic resonance imaging at 15 months of age indicated mild symmetric T2 prolongation involving the subthalamic nuclei. One of them was a 2(1/2)-year-old male, and the other was a 3-year-old male with a mutation in SURF-1 gene and facial dysmorphism including frontal bossing, brachycephaly, hypertrichosis, lateral displacement of inner canthi, esotropia, maxillary hypoplasia, hypertrophic gums, irregularly placed teeth, upturned nostril, low-set big ears, and retrognathi. This report describes two patients with similar facial features. Mutations in the nuclear SURF-1 gene are specifically associated with cytochrome C oxidase-deficient Leigh syndrome. Leigh syndrome is an inherited, progressive neurodegenerative disorder of infancy and childhood. Yüksel, Adnan Seven, Mehmet Cetincelik, Umran YeÅŸil, Gözde Köksal, Vedat All rights reserved.įacial dysmorphism in Leigh syndrome with SURF-1 mutation and COX deficiency. Our findings do not support the hypothesis of enhanced general aesthetic perceptual sensitivity in individuals with (vs. Overall, groups did not differ with respect to their ability to correctly identify facial aberrations when presented with other people's faces. The experiment was administered in individuals with BDD, social anxiety disorder, obsessive-compulsive disorder, and mentally healthy controls (32 per group, respectively). We administered a facial discrimination paradigm, which allows to assess the ability to identify slight to strong facial changes (e.g., hair loss, acne) when presented with an original (unmodified) facial image, relative to a changed (modified) facial image. Thus, the purpose of this study was to further examine facial discrimination in BDD. Although research on facial discrimination is limited so far, the few existing studies have produced mixed results. Several risk factors such as aesthetic perceptual sensitivity have been proposed to explain BDD's unique symptomatology. Hübner, Claudia Wiesendahl, Wiebke Kleinstäuber, Maria Stangier, Ulrich Kathmann, Norbert Buhlmann, Ulrikeīody dysmorphic disorder (BDD) is characterized by preoccupation with perceived flaws in one's own appearance. 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.įacial discrimination in body dysmorphic, obsessive-compulsive and social anxiety disorders. There is a significant variability in the range of clinical features. Typical clinical features include facial dysmorphism, mild-to-moderate psychomotor retardation, trigonocephaly, cardiac defects, and thrombocytopenia. ÅžimÅŸek-Kiper, Pelin Özlem Bayram, Yavuz Ãœtine, Gülen Eda Alanay, Yasemin BoduroÄŸlu, Korayĭistal 11q deletion, previously known as Jacobsen syndrome, is caused by segmental aneusomy for the distal end of the long arm of chromosome 11. A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism. ![]()
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