Volume 65, Issue 9 (3 2007)                   Tehran Univ Med J 2007, 65(9): 77-81 | Back to browse issues page

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Akrami S M, Yousefzadeh G R. A 36 years old woman with Hutchinson-Gilford Progeria Syndrome: a case report. Tehran Univ Med J. 2007; 65 (9) :77-81
URL: http://tumj.tums.ac.ir/article-1-735-en.html
Abstract:   (5635 Views)

Background: Hutchinson-Gilford Progeria Syndrome (HGPS) is a very rare genetic disorder with a frequency of 1 in 8 million live births. It is characterised by premature aging phenotype. The median age at death is 13.4 years. It is an autosomal dominat disease due to a de novo point mutation in the Lamin A gene exon 11 in the majority of cases. More than 100 cases have been reported world wide.
Case report: We describe here an exceptionally long-lived patient with HGPS, who is alive at age 36. She was referred by a cardiologist to our endocrinology clinic to be worked up for presence of a metabolic or genetic disorder before a heart surgery.
Results: Having more attention of clinicians about very rare diseases and referring the patients to geneticist are the main goals of this case report as well as describing the disease.

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