Axenfeld-Rieger Syndrome in Monozygotic Twin Brothers: Case Report
نویسندگان
چکیده
منابع مشابه
Missed case of Axenfeld-Rieger syndrome: a case report
BACKGROUND Anterior segment dysgenesis is a failure of normal development of the anterior segment of the eye. The structural anomalies are associated with glaucoma and corneal opacity which may lead to blindness. CASE PRESENTATION A Caucasian male was noted to have 'funny pupils' at the age of seven years but not followed up. He was diagnosed to have Axenfeld-Rieger syndrome at the age of thi...
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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...
متن کاملThe Axenfeld syndrome and the Rieger syndrome.
A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of the same gene. We also review the associated anomalies already reported, emphasise their high incidence, suggest that these are not accidental associations, and propose some possible explanations for the high incidence.
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Fragile X syndrome (FXS) is the main cause of inherited mental retardation and is the result of transcriptional silencing of the fragile X mental retardation gene FMR1. An absence of the associated protein FMRP leads to the deregulation of many genes, which results in phenotypes of Attention-Deficit Hyperactivity Disorder (ADHD), anxiety, epilepsy and autism. The aim of this article is to repor...
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Three cases of the association between the Axenfeld-Rieger syndrome and retinal detachment in one family are described. Serious damage to the posterior segment of the eye in the Axenfeld-Rieger syndrome has not previously been reported.
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ژورنال
عنوان ژورنال: Northern Clinics of Istanbul
سال: 2021
ISSN: 2148-4902
DOI: 10.14744/nci.2021.89577