Axenfeld-Rieger syndrome associated with severe maxillofacial and skeletal anomalies
نویسندگان
چکیده
منابع مشابه
The rare Axenfeld–Rieger syndrome with systemic anomalies
RATIONALE Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. PATIENT CONCERNS A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month. DIAGNOSES The patient was diagnosed as ARS with retinal detachment based on...
متن کاملDental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation
Axenfeld-Rieger syndrome (ARS) (OMIM Nr.: 180500) is a rare autosomal dominant disorder (1 : 200000) with genetic and morphologic variability. Glaucoma is associated in 50% of the patients. Craniofacial and dental anomalies are frequently reported with ARS. The present study was designed as a multidisciplinary analysis of orthodontic, ophthalmologic, and genotypical features. A three-generation...
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 کاملAxenfeld-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 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.
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ژورنال
عنوان ژورنال: Journal of Oral and Maxillofacial Pathology
سال: 2015
ISSN: 0973-029X
DOI: 10.4103/0973-029x.157219