| Literature DB >> 28540519 |
Gurnihal Singh Chawla1, Purva Mahesh Agrawal2, Avinash Dhok2.
Abstract
Hutchinson-Gilford progeria syndrome, also known as progeria, is an extremely rare disorder with an incidence rate of 1 in 8 million. It occurs sporadically, and patients suffering from this syndrome usually exhibit premature ageing. It has an autosomal recessive inheritance with a slight male predominance. The affected children usually die early with an average life span of 13.4 years. The most common cause of death in such patients is a cardio-vascular abnormality such as myocardial infarction. We present a rare case of progeria in an 8-year-old boy who was diagnosed clinically and was referred to our department for a skeletal survey. Almost all of the typical radiological findings were present in this case, which further confirmed the clinical diagnosis of progeria.Entities:
Keywords: Global alopecia; Premature ageing; Progeria
Mesh:
Year: 2017 PMID: 28540519 DOI: 10.1007/s00256-017-2673-y
Source DB: PubMed Journal: Skeletal Radiol ISSN: 0364-2348 Impact factor: 2.199