Rieger syndrome is associated with PAX6 deletion
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چکیده
منابع مشابه
brief report: axenfeld-rieger syndrome associated with subdural hematoma
purpose: in this report a patient with concomitant axenfeld-rieger syndrome and glaucoma is presented. results: new symptoms of a recent traumatic subdural hematoma were being attributed to his previously diagnosed conditions for several months. conclusion: appropriate imaging saved the patient from more dangerous complications.
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The aim of this presentation was to report a case with Axenfeld-Rieger syndrome (ARS) associated with truncus arteriosus (TA). We present a 14-year-old boy with ARS in whom the diagnosis was confirmed by ophthalmologic examination and developmental defects of the teeth and facial bones. Echocardiography revealed TA. With this case demonstrating the association between ARS and TA, the range of r...
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Rieger syndrome is a dysembryogenetic disease in which labyrinthic damage can be associated with other genetic anomalies. The case presented here is of a patient who has bilateral dysgenesis of the iris, with bulbar atrophy and dyscoria. The patient does not present any malformation of the craniofacial structures, of the periumbilical skin, or of the skeletal bones. The case is, therefore, a va...
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Background and Objectives: There is convincing evidence that subjects concomitantly affected by type 2 diabetes (T2D) and metabolic syndrome (MeS) are at greater risk for cardiovascular disease (CVD). Many metabolic derangements in T2D might be attributed to poor vitamin D status. The purpose of this study was to investigate the associations among vitamin D status, MeS and glycemic status in su...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica Scandinavica
سال: 2001
ISSN: 1395-3907
DOI: 10.1034/j.1600-0420.2001.079002201.x