Rieger syndrome is not associated withPAX6deletion: a correction toActa Ophthalmol Scand2001: 79: 201â203
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چکیده
منابع مشابه
Axenfeld-Rieger syndrome associated with truncus arteriosus: a case report.
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 کاملRieger syndrome: case report.
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...
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.
متن کاملbrief 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.
متن کاملCCL22 16C/A Genetic Variation is not Associated with Breast Carcinoma in Southern Iranian Population
Background: CCL22/MDC is a CC chemokine with a critical role in regulation of the immune balance in physiological condition. CCL22/CCR-4 ligation has been documented to participate in the migration of regulatory T (Treg) cells and Th2 lymphocytes to the site of breast tumors; circumstances that are known to be associated with poor prognosis. Objective: To investigate the association of a single...
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ژورنال
عنوان ژورنال: Acta Ophthalmologica
سال: 2009
ISSN: 1755-375X,1755-3768
DOI: 10.1111/j.1755-3768.2009.01696.x