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Hutchinson-Gilford progeria syndrome

The Hutchinson-Gilford progeria syndrome is rare but it may provide some understanding of the mechanisms of normal ageing. A paper from the USA (Melissa A Meredith and colleagues. New England Journal of Medicine 2008;358:592–604; see also Perspective, ibid: 552–5) has provided detailed information about 15 children (almost half of all known patients worldwide).

The patients were unrelated, white children aged 1 year 6 months to 17 years 8 months; eight were girls. All had sclerotic skin, joint contractures, bone abnormalities, alopecia and growth impairment. Cardiovascular investigations showed worsening vascular function with age, with raised blood pressure, reduced vascular compliance, decreased ankle-brachial index and adventitial thickening. Many had dental and visual abnormalities. Previously undescribed features included raised platelet counts, prolonged prothrombin times, raised serum phosphorus concentrations, low frequency conductive hearing loss, and functional oral deficits.

Progeria results when a mutation of the lamin A gene (LMNA) results . . . [Full text of this article]