نتایج جستجو برای: استیوپتروز osteopetrosis

تعداد نتایج: 909  

Journal: :Archives of disease in childhood 1988
R Kumar P K Misra R Singhal

A 6 year old boy with clinical and radiological features of pycnodysostosis is described. In addition to pycnodysostosis he had a myelophthisic type of anaemia suggesting an overlap with osteopetrosis.

2012
Giovanni Manzi Delia Romanò Laura Moneghini Carlo L Romanò

BACKGROUND Osteopetrosis is a rare, inherited, bone disorder, characterized by osteosclerosis, obliteration of the medullary cavity and calcified cartilage. The autosomal dominant form is compatible with a normal life span, although fractures often result from minimal trauma, due to the pathologic nature of bone. Osteomyelitis is common in patients with osteopetrosis because of a reduced resist...

Journal: :Journal of medical genetics 2012
Memet Aker Alex Rouvinski Saar Hashavia Asaf Ta-Shma Avraham Shaag Shamir Zenvirt Shoshana Israel Michael Weintraub Albert Taraboulos Zvi Bar-Shavit Orly Elpeleg

BACKGROUND Osteopetrosis is a life-threatening, rare disorder typically resulting from osteoclast dysfunction and infrequently from failure to commitment to osteoclast lineage. Patients commonly present in infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, and bone marrow failure. In ∼70% of the patients there is a molecularly defined failure to maintain an acid p...

2013
Ban Mousa Rashid Nawshirwan Gafoor Rashid Ansgar Schulz Georgia Lahr Beston Faiek Nore

UNLABELLED INTRODUCTION Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton. The absence or malfunction of osteoclasts is found to be strongly associated with the disease evolution. Currently, four clinically distinct forms of the disease have been recognized: the infantile autosomal recessive osteopetrosis, the malignant and the intermediate forms, a...

Journal: :Arthritis & Rheumatism 1982

Journal: :Japanese Journal of Oral & Maxillofacial Surgery 1995

Journal: :Journal of Evolution of Medical and Dental Sciences 2014

Journal: :Turkish Journal of Hematology 2014

Journal: :Modern Rheumatology Journal 2014

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