singleton merten syndrome: a rare cause of early onset aortic stenosis

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ID: 234796
2017
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Ranked #29 of 73 articles by views in gastroenterology research and practice

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Abstract
Singleton Merten syndrome (SMS) is a rare autosomal dominant genetic disorder with variable expression. Its characteristic features include abnormal aortic calcification, abnormal ossification of extremities, and dental anomalies. We present a young man with dyspnea who was noted to have aortic stenosis in the background of glaucoma, psoriasis, dental anomalies, hand and foot deformities, Achilles tendinitis, osteopenia, and nephrolithiasis. The conglomeration of features led to the diagnosis of SMS. His mother had a very similar phenotype.
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ghadiam2017casesingleton Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Harshavardhan Ghadiam;Sudhir Mungee
Journal gastroenterology research and practice
Year 2017
DOI
10.1155/2017/8197954
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