werner’s syndrome: a case report and review of literature

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ID: 202555
2018
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Abstract
Werner’s Syndrome also known as Pangeria is an autosomal recessive disorder characterized by premature aging, increased risk of malignancies and atherosclerosis. The Global incidence rate is less than 1 in 100,000 live births. The incidence is higher in Japan and Sardinia affecting 1 in 20,000 – 40,000 live births and 1 in 50,000 live births respectively. Individuals with this disorder typically grow and develop normally until they reach puberty. Affected individual usually do not have a growth spurt, resulting in short stature. The characteristic aged appearance typically begins to develop when they are in their twenties and includes graying and loss of hair, a hoarse voice, and thin, hardened skin. They may also have a facial appearance described as “bird-like facies.” Werner’s Syndrome has been described as “Caricature of ageing” by Epstein et al. 1996. An OMIM number # has been assigned to Werner’s Syndrome with phenotype MIM number 277700 (OMIM#277700).
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Authors ;Farhana Tahseen Taj; Divya Vupperla;Sridevi Raichur;Jolika Ardeshana
Journal european journal of integrative medicine
Year 2018
DOI
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URL
http://www.odermatol.com/issue-in-html/2018-2-10-werner/
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