singleton merten syndrome: a rare cause of early onset aortic stenosis
;Harshavardhan Ghadiam;Sudhir Mungee
gastroenterology research and practice2017Vol. 2017pp. -
135
ghadiam2017casesingleton
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.