نتایج جستجو برای: hutchinson gilford syndrome

تعداد نتایج: 623259  

Journal: :Acta medica Iranica 2012
Ramin Espandar Amir Sobhani Eraghi Shirin Mardookhpour

Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature ageing disorder that is characterized by accelerated degenerative changes of the cutaneous, musculoskeletal and cardiovascular systems. Mean age at diagnosis is 2.9 years and generally leading to death at approximately 13 years of age due to myocardial infarction or stroke. Orthopedic manifestations of HGPS are multiple and shoulde...

Journal: :American journal of medical genetics. Part A 2006
Raoul C M Hennekam

Hutchinson-Gilford progeria syndrome (HGPS) is a rare but well known entity characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons. Cardiovascular compromise leads to early demise. Cognitive development is normal. Data on 10 of our own cases and 132 cases from l...

2013
Rajat G. Panigrahi Antarmayee Panigrahi Poornima Vijayakumar Priyadarshini Choudhury Sanat K. Bhuyan Ruchi Bhuyan G. Maragathavalli Abhishek Ranjan Pati

Hutchinson-Gilford progeria syndrome (HGPS) is a rare pediatric genetic syndrome with incidence of one per eight million live births. The disorder is characterised by premature aging, generally leading to death at approximately 13.4 years of age. This is a follow-up study of a 9-year-old male with clinical and radiographic features highly suggestive of HGPS and presented here with description o...

Journal: :The Journals of Gerontology Series A: Biological Sciences and Medical Sciences 2007

Journal: :Proceedings for Annual Meeting of The Japanese Pharmacological Society 2018

Journal: :Trends in molecular medicine 2002
Jouni Uitto

In the late 1800s, Hutchinson reported two young boys with ‘congenital absence of hair and its appendages’. They, and an additional patient, were described further by Gilford, who proposed the term ‘progeria’ for this condition [1]. Hutchinson–Gilford Progeria syndrome (HGPS) is a rare developmental disorder affecting most of the organ systems in a manner that mimics, to some extent, features o...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید