advertisement
Abstract #72683 Published in IGR 18-4
Singleton Merten Syndrome: A Rare Cause of Early Onset Aortic Stenosis
Ghadiam H; Mungee SCase reports in cardiology 2017; 2017: 8197954
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.
Department of Medicine, University of Illinois College of Medicine at Peoria, Peoria, IL, USA.
Full articleClassification:
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
