نتایج جستجو برای: spondylo

تعداد نتایج: 77  

Journal: :International journal of clinical and experimental medicine 2010
Mallikarjun Badadani K Taranath Shetty Ss Agarwal

Handigodu Disease (HD) is a disorder of the osteoarticular system which is highly prevalent in several villages of two districts viz, Shimoga and Chikmaglur of the state of Karnataka, southern India. The scientific name of the disease is Spondylo-epi-(meta) physeal Dysplasia, Autosomal Dominant variety, Handigodu syndrome. The same has been listed in the International Classification of Skeletal...

2016
Ozgur Taspinar Fatih Kelesoglu Yasar Keskin Murat Uludag

BACKGROUND Progressive pseudorheumatoid dysplasia (PPD) is a rare spondylo-epi-metaphyseal dysplasia (SEMD). It can be confused with juvenile idiopathic arthritis (JIA), both clinically and radiologically. Early detection and diagnosis of PPD are important in helping to relieve the pain and disability associated with this disease and in avoiding unnecessary investigations and anti-rheumatic int...

Journal: :Annals of the rheumatic diseases 1981
H Sonozaki H Mitsui Y Miyanaga K Okitsu M Igarashi Y Hayashi M Matsuura A Azuma K Okai M Kawashima

We have described clinical features of 53 cases with pustulotic arthro-osteitis. Anterior chest wall symptoms such as intersterno-costoclavicular or manubriosternal lesions were observed in all of 53 cases. Spondylitis or spondylodiscitis was found in 18 cases. Sacroiliitis resembling ankylosing spondylitis was seen in 7 cases. Peripheral inflammatory arthritis was seen in 14 cases, which were ...

Journal: :Human mutation 2015
Ginevra Zanni Vera M Kalscheuer Andreas Friedrich Sabina Barresi Paolo Alfieri Matteo Di Capua Stefan A Haas Giorgia Piccini Thomas Karl Sabine M Klauck Emanuele Bellacchio Francesco Emma Marco Cappa Enrico Bertini Lore Breitenbach-Koller

RPL10 encodes ribosomal protein L10 (uL16), a highly conserved multifunctional component of the large ribosomal subunit, involved in ribosome biogenesis and function. Using X-exome resequencing, we identified a novel missense mutation (c.191C>T; p.(A64V)) in the N-terminal domain of the protein, in a family with two affected cousins presenting with X-linked intellectual disability, cerebellar h...

Journal: :Journal of medical genetics 2003
V Cormier-Daire A L Delezoide N Philip P Marcorelles K Casas Y Hillion L Faivre D L Rimoin A Munnich P Maroteaux M Le Merrer

Opsismodysplasia (opsismos in Greek = late) is a rare chondrodysplasia, first described in 1977 by Zonana et al as a unique chondrodysplasia and designated “opsismodysplasia” only in 1984. The disorder is characterised clinically by micromelia with extremely short hands and feet and respiratory distress responsible for death in the first few years of life. The main radiological features include...

Journal: :The Journal of small animal practice 2007
J Arnbjerg A L Jensen A B Olesen

In two litters from the same parents, three out of four males had an abnormally short leg and body length. Affected dogs showed signs of pain when moving, which could be eliminated by analgesia. On radiography, these animals had widened, radiolucent, irregularly bordered intervertebral disc spaces. When examined at seven months of age, the epiphyses appeared widened and irregular in shape and o...

نمودار تعداد نتایج جستجو در هر سال

با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید