Titheradge, Hannah Togneri, Fiona McMullan, Dominic Brueton, Louise Lim, Derek Williams, DeniseĪxenfeld-Rieger syndrome ( ARS) is an autosomal dominant disorder with variable expressivity. Hence, it is believed prudent that patients with Axenfeld-Rieger syndrome should undergo echocardiographic screenings for valvular abnormalities.Īxenfeld-Rieger syndrome: further clinical and array delineation of four unrelated patients with a 4q25 microdeletion. The present case report adds to the body of literature which suggests a correlation between Axenfeld-Rieger syndrome and valvular abnormalities. An ophthalmology consultation was obtained and the patient diagnosed with Axenfeld-Rieger syndrome, a disorder of the anterior ocular chamber that has been associated with cardiac malformations. The mitral valve leaflet was myxomatous and calcified - an unusual find in such a patient. The patient underwent urgent mitral valve replacement and tolerated the procedure well. Echocardiography revealed a flail anterior mitral valve leaflet with ruptured chordae and severe mitral regurgitation. A physical examination revealed a holosystolic murmur and pupillary abnormalities. Idiopathic mitral valve disease in a patient presenting with Axenfeld-Rieger syndrome.Īntevil, Jared Umakanthan, Ramanan Leacche, Marzia Brewer, Zachary Solenkova, Natalia Byrne, John G Greelish, James PĪ 33-year-old, previously healthy male presented with respiratory distress and underwent intubation. As well, the known underlying genetic defects, clinical diagnostic possibilities, genetic counseling and treatments of ARS are discussed in detail. Here, an overview of the clinical spectrum of ARS is provided. ARS is inherited in an autosomal-dominant fashion the underlying defect in 40% of patients is mutations in PITX2 or FOXC1. Patients with ARS may also present with systemic changes, including dental defects, mild craniofacial dysmorphism, and umbilical anomalies.
©2010 Special Care Dentistry Association and Wiley Periodicals, Inc.Īxenfeld-Rieger syndrome ( ARS) is a clinically and genetically heterogeneous group of developmental disorders affecting primarily the anterior segment of the eye, often leading to secondary glaucoma.
Her dental condition is described, her immediate treatment is shown, and her long-term treatment needs are discussed. This is a case report of a 7-year-old Caucasian female with ARS who presented with significant ocular and dental anomalies. Relatively little information exists on this syndrome within the dental literature despite the fact that midface hypoplasia and maxillary hypodontia are classical presenting features of this syndrome. Waldron, Jennie M McNamara, Clare Hewson, Antonia R McNamara, C MĪxenfeld-Rieger syndrome ( ARS) is a rare, autosomal dominant condition characterized by ocular, craniofacial, dental, and periumbilical abnormalities. Axenfeld-Rieger syndrome ( ARS): A review and case report.
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