An autopsied case of 45-year-old man with Hutchinson-Gilford progeria syndrome.
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چکیده
منابع مشابه
Hutchinson-Gilford Progeria Syndrome
The Hutchinson-Gilford syndrome or progeria is a laminopathy generated by mutations that affect LMNA gene. This produces an abnormal protein named progerine which alters the formation of the cellular membrane inducing premature aging of all cells. In the present review aspects related to the pathophysiology and clinical characteristics of this syndrome are shown.
متن کاملLMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome.
H utchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder phenotypically characterised by many features of premature aging. The characteristic features include short stature, prominent eyes, micrognathia, craniofacial disproportion, loss of subcutaneous fat, alopecia, beaked nose, ‘‘plucked-bird’’ appearance, coax valga, pathologic bone fractures, atherosclerosis, and cardiovascul...
متن کاملHutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford Progeria Syndrome (HGPS) is a lethal congenital disorder, characterised by premature appearance of accelerated ageing in children. Although HGPS was first descri‐ bed by Jonathan Hutchinson [1] and then by Hastings Gilford [2] more than a century ago, it was not until 2003 that the genetic basis of HGPS was uncovered [3, 4]. Approximately 90% of HGPS patients have an identica...
متن کاملHutchinson-Gilford progeria syndrome.
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare, uniformly fatal, segmental "premature aging" disease in which children exhibit phenotypes that may give us insights into the aging process at both the cellular and organismal levels. Initial presentation in early childhood is primarily based on growth and dermatologic findings. Primary morbidity and mortality for children with HG...
متن کاملA Case Report of Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford Progeria Syndrome (HGPS), a rare genetic condition occurs one in every 8 million live births. HGPS is characterized by premature aging in various organs. The average survival rate of the affected patients is 13 years, and their most common causes of death are myocardial infarction and stroke. This disease occurs due to a gene mutation in the chromosomes of the patient. There ...
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ژورنال
عنوان ژورنال: Nihon Naika Gakkai Zasshi
سال: 1986
ISSN: 0021-5384,1883-2083
DOI: 10.2169/naika.75.746