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A 36 years old woman with Hutchinson-Gilford Progeria Syndrome: a case report

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Author(s): Akrami S M | Yousefzadeh G R

Journal: Tehran University Medical Journal
ISSN 1683-1764

Volume: 65;
Issue: 9;
Start page: 77;
Date: 2007;
Original page

Keywords: Hutchinson-Gilford progeria syndrome | premature atherosclerosis | aged appearance

ABSTRACT
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."nCase 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."nResults: 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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