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Hutchinson-Gilford progeria syndrome in siblings. Report of three new cases
J U Monu1, L B Benka-Coker, Y Fatunde
1Department of Radiology, University of Wisconsin Hospital and Clinics, Madison.
Insights
Hutchinson-Gilford progeria syndrome (HGPS) is a rare pediatric condition causing accelerated aging. This report details three African siblings with HGPS, highlighting its occurrence in Black patients and comparing radiologic features with other progeroid syndromes.
Area of Science:
- Pediatrics
- Genetics
- Radiology
Background:
- Hutchinson-Gilford progeria syndrome (HGPS) is a rare, inherited disorder characterized by premature and accelerated aging in children.
- The inheritance pattern of HGPS remains uncertain, with proposed autosomal dominant and recessive modes.
- Patients typically present after one year of age with distinct skin and skeletal changes, leading to a characteristic appearance.
Abstract:
The Hutchinson-Gilford progeria syndrome is a rare, inherited, pediatric condition with features of premature and accelerated aging. The pattern of inheritance is uncertain though both autosomal dominant and autosomal recessive modes have been proposed. The patients usually present after the 1st year of life with progressive skin and skeletal changes that give rise to a characteristic physical appearance. Three siblings seen at the University of Benin Teaching Hospital are described in this report, the third documenting the occurrence of progeria in African black patients. The two older siblings show the classic physical and radiologic changes described in progeria whereas the third, a 2-year-old boy, manifests only the early physical and radiologic changes of the disease. We compare the radiologic features of progeria with those of other progeroid conditions: acrogeria, Werner's and Cockayne's syndromes.