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Singleton Merten Syndrome: A Rare Cause of Early Onset Aortic Stenosis.
Case Rep Cardiol. 2017; 2017:8197954.CR

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.

Authors+Show Affiliations

Department of Medicine, University of Illinois College of Medicine at Peoria, Peoria, IL, USA.Division of Cardiology, University of Illinois College of Medicine at Peoria, Peoria, IL, USA.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

28321341

Citation

Ghadiam, Harshavardhan, and Sudhir Mungee. "Singleton Merten Syndrome: a Rare Cause of Early Onset Aortic Stenosis." Case Reports in Cardiology, vol. 2017, 2017, p. 8197954.
Ghadiam H, Mungee S. Singleton Merten Syndrome: A Rare Cause of Early Onset Aortic Stenosis. Case Rep Cardiol. 2017;2017:8197954.
Ghadiam, H., & Mungee, S. (2017). Singleton Merten Syndrome: A Rare Cause of Early Onset Aortic Stenosis. Case Reports in Cardiology, 2017, 8197954. https://doi.org/10.1155/2017/8197954
Ghadiam H, Mungee S. Singleton Merten Syndrome: a Rare Cause of Early Onset Aortic Stenosis. Case Rep Cardiol. 2017;2017:8197954. PubMed PMID: 28321341.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Singleton Merten Syndrome: A Rare Cause of Early Onset Aortic Stenosis. AU - Ghadiam,Harshavardhan, AU - Mungee,Sudhir, Y1 - 2017/02/21/ PY - 2016/11/14/received PY - 2017/01/31/revised PY - 2017/02/01/accepted PY - 2017/3/22/entrez PY - 2017/3/23/pubmed PY - 2017/3/23/medline SP - 8197954 EP - 8197954 JF - Case reports in cardiology JO - Case Rep Cardiol VL - 2017 N2 - 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. SN - 2090-6404 UR - https://www.unboundmedicine.com/medline/citation/28321341/Singleton_Merten_Syndrome:_A_Rare_Cause_of_Early_Onset_Aortic_Stenosis. L2 - https://doi.org/10.1155/2017/8197954 DB - PRIME DP - Unbound Medicine ER -
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