Hutchinson-Gilford progeria syndrome (HGPS) is an ultrarare autosomal dominant genetic disorder, with an incidence of 1 in 4 million live births, for which there is no known cure. Children with HGPS appear normal at birth but present in infancy with severe failure to thrive, accompanied by a prematurely aged appearance, alopecia, and progressive lipoatrophy, joint contractures, skeletal dysplasia, and atherosclerosis, although intellectual development is normal.1 Accelerated cardiovascular disease results in death due to myocardial infarction or stroke at an average age of 14.6 years.2
Hisama FM, Oshima J. Precision Medicine and Progress in the Treatment of Hutchinson-Gilford Progeria Syndrome. JAMA. 2018;319(16):1663–1664. doi:10.1001/jama.2018.2199
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