Hutchinson-Gilford Progeria Syndrome
نویسندگان
چکیده مقاله:
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.
منابع مشابه
Hutchinson-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 کاملCraniofacial abnormalities in Hutchinson-Gilford progeria syndrome.
HGPS is a rare syndrome of segmental premature aging. Our goal was to expand the scope of structural bone and soft-tissue craniofacial abnormalities in HGPS through CT or MR imaging. Using The Progeria Research Foundation Medical and Research Database, 98 imaging studies on 25 patients, birth to 14.1 years of age, were comprehensively reviewed. Eight newly identified abnormalities involving the...
متن کاملResearch on Hutchinson-Gilford progeria syndrome.
IN this issue of the Journal, I have included a summary of a workshop held in November 2007 on the topic of Hutchinson-Gilford Progeria Syndrome (HGPS) (1). This syndrome was first described over 120 years ago by Hutchinson (2), and although the phenotype does include some aging-like changes, biogerontologists have questioned whether it is a viable model for studying accelerated aging (3). The ...
متن کاملHutchinson-gilford Syndrome (progeria): a Review
Progeria, also known as the Hutchinson-Gilford syndrome, is an extremely rare condition that was initially reported by Jonathan Hutchinson in 1886 and further described by Hastings Gilford in 1904. Hutchinson Gilford progeria syndrome is a disorder characterized by premature aging of postnatal onset. The main clinical and radiological features include alopecia, thin skin hypoplasia of nails, lo...
متن کاملHutchinson– Gilford Progeria Syndrome: A Review
Hutchinson– Gilford Progeria Syndrome is a very rare disorder characterized by premature ageing caused due to mutation in LMNA gene. The child born with this disorder shows features of old age from first year of birth and generally dies in teenage. The clinical symptoms include alopecia, thin skin, stiffness of joints etc. All of the children suffering from this disease appear identical. The pa...
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عنوان ژورنال
دوره 7 شماره 10
صفحات 10283- 10289
تاریخ انتشار 2019-10-01
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