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KMID : 0857220060100020216
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Journal of the Korean Pediatric Cardiology Society
2006 Volume.10 No. 2 p.216 ~ p.219
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A Case of Axenfeld-Rieger Syndrome with Severe Mitral Regurgitation
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Lee Jung-Hyun
Chae Soo-Ho
Huh June
Kang I-Seok
Lee Heung-Jae
Yang Ji-Hyuk
Jun Tae-Gook
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Abstract
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Axenfeld-Rieger syndrome is a rare autosomal dominant inherited developmental disorder characterized by ocular and systemic abnormalities. In ocular anomaly, it includes a prominent and anteriorly displaced Schwalbe line and an iridocorneal synechiae, iris hypoplasia, corectopia and secondary glaucoma. Extraocular developmental abnormalities of the syndrome are hearing loss, congenital heart disease, dental anomalies, developmental delay, and a characteristic facial appearance. We herein reported a familial case of Axenfeld-Rieger syndrome that had a mitral valve prolapse with severe mitral regurgitation finally requiring mitral valve replacement.
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KEYWORD
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Axenfeld-Rieger syndrome, Glaucoma, Mitral regurgitation
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