Singleton-Merten Syndrome (SGMRT): Types 1 and 2
摘要
Singleton-Merten syndrome (SGMRT) is an exceedingly rare autosomal dominant disorder characterized by dental dysplasia, blood vessel abnormalities, progressive calcification of the aorta, and specific heart valves leading to stenosis, osteoporosis, and the expansion of marrow cavities in the bones of hands. Dental abnormalities typically manifest early in life, while symptoms related to calcium accumulation and bone defects may not appear until late infancy or early childhood (Singleton and Merten 1973). The syndrome was first described in 1973 by Singleton and Merten, who reported two females exhibiting abnormal dental development, distinctive radiographic changes, and significant calcification of the aortic valve (Singleton and Merten 1973). Subsequently, Gay and Kuhn in 1976, identified two additional cases with similar diagnoses and symptoms (Gay and Kuhn 1976). Among the four patients, two experienced generalized muscle weakness and progressive atrophy. Follow-up studies on families affected by this syndrome indicate considerable variability in phenotypic expression, even among family members. The primary manifestations include aortic calcification, dental anomalies, osteopenia, glaucoma, psoriasis, and muscle weakness, with onset typically occurring between 4 and 24 months of age (Feigenbaum et al. 2013). The prevalence of SGMRT is estimated to be less than 1 in 1,000,000 individuals.