Osteopetrosis and Erlenmeyer-Flask Deformity
نویسندگان
چکیده
منابع مشابه
The Erlenmeyer flask bone deformity in the skeletal dysplasias.
Erlenmeyer flask bone deformity (EFD) is a long-standing term used to describe a specific abnormality of the distal femora. The deformity consists of lack of modeling of the di-metaphysis with abnormal cortical thinning and lack of the concave di-metaphyseal curve resulting in an Erlenmeyer flask-like appearance. Utilizing a literature review and cohort study of 12 disorders we found 20 distinc...
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Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton caused by the absence or malfunction of osteoclasts. Three distinct forms of the disease have been recognized, autosomal dominant osteopetrosis being the most common. Autosomal dominant osteopetrosis exhibits a heterogeneous trait with milder symptoms, often at later childhood or adulthood. The aim of t...
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Autosomal dominant osteopetrosis (Albers-Schönberg disease) classically displays the radiographic signs of osteosclerosis. The main ADO complications involve the skeleton: low-impact bone fractures, scoliosis and hip osteoarthritis. Management of osteopetrosis-related orthopedic problems is a surgical challenge due to increased bone density. The healing process is very slow in these patients be...
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Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence o...
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Osteopetrosis is a hereditary disorder of bone characterized by sclerosis of bone and decreased marrow spaces. Due to depressed marrow function, this disorder can cause anemia, hepatosplenomegaly, recurrent infections and osteomyelitis of jaw. Excessive bone deposition in skull base leads to narrowing of foramina and cranial nerve compression. Bone marrow transplantation is the only curative tr...
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ژورنال
عنوان ژورنال: New England Journal of Medicine
سال: 2015
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejmicm1407743