Literature DB >> 28540519

Progeria: an extremely unusual disorder.

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


  7 in total

1.  LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.

Authors:  K Fukuchi; T Katsuya; K Sugimoto; M Kuremura; H D Kim; L Li; T Ogihara
Journal:  J Med Genet       Date:  2004-05       Impact factor: 6.318

2.  Congenital Absence of Hair and Mammary Glands with Atrophic Condition of the Skin and its Appendages, in a Boy whose Mother had been almost wholly Bald from Alopecia Areata from the age of Six.

Authors:  J Hutchinson
Journal:  Med Chir Trans       Date:  1886

Review 3.  The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature.

Authors:  F L DeBusk
Journal:  J Pediatr       Date:  1972-04       Impact factor: 4.406

4.  Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome.

Authors:  N J Ullrich; V M Silvera; S E Campbell; L B Gordon
Journal:  AJNR Am J Neuroradiol       Date:  2012-03-29       Impact factor: 3.825

5.  The Hutchinson-Gilford Progeria Syndrome: a case report.

Authors:  I Russo-Menna; C Arancibias
Journal:  Minerva Anestesiol       Date:  2009-11-11       Impact factor: 3.051

Review 6.  Aging and nuclear organization: lamins and progeria.

Authors:  Leslie C Mounkes; Colin L Stewart
Journal:  Curr Opin Cell Biol       Date:  2004-06       Impact factor: 8.382

7.  Progeria syndrome: a case report.

Authors:  Rajul Rastogi; S M Chander Mohan
Journal:  Indian J Orthop       Date:  2008-01       Impact factor: 1.251

  7 in total

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