منابع مشابه
Hereditary multiple exostoses.
Hereditary multiple exostoses (HME) is a skeletal disorder which primarily affects enchondral bone during growth. It is characterised by multiple exostoses, usually arising in the juxtaepiphyseal region of the long bones. Exostoses that affect "almost every bone in the body" were first mentioned by John Hunter in his Lectures on the principles of surgery in 1786.1 The first family affected by H...
متن کاملManifestations of hereditary multiple exostoses.
The solitary osteochondroma, a common pediatric bone tumor, is a cartilage-capped exostosis. Hereditary multiple exostosis is an autosomal dominant disorder manifested by the presence of multiple osteochondromas. Linkage analysis has implicated mutations in the EXT gene family, resulting in an error in the regulation of normal chondrocyte proliferation and maturation that leads to abnormal bone...
متن کاملThe Genetics of Hereditary Multiple Exostoses
Sandra A. Darilek, MS and Jacqueline T. Hecht, Ph.D. It is suggested if you do not have a back round in genetic to read the link to The Genetics of Multiple Hereditary Exostoses A Simplified Explanation Wim Wuyts, Ph.D. Multiple Hereditary Exostoses ‐ General aspects Introduction Hereditary multiple exostosis (HME) is a skeletal disorder characterized by the presence of numerous bony outgrow...
متن کاملThe hip in hereditary multiple exostoses.
We defined the characteristics of dysplasia and coxa valga in hereditary multiple exostoses (HME) by radiological analysis of 24 hips in 12 patients. The degree and effect of the 'osteochondroma load' around the hip were quantified. We investigated the pathology of the labrum and the incidence of osteoarthritis and of malignant change in these patients. Coxa valga and dysplasia were common with...
متن کاملHereditary multiple exostoses and heparan sulfate polymerization.
Hereditary multiple exostoses (HME, OMIM 133700, 133701) results from mutations in EXT1 and EXT2, genes encoding the copolymerase responsible for heparan sulfate (HS) biosynthesis. Members of this multigene family share the ability to transfer N-acetylglucosamine to a variety of oligosaccharide acceptors. EXT1 and EXT2 encode the copolymerase, whereas the roles of the other EXT family members (...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1991
ISSN: 1468-6244
DOI: 10.1136/jmg.28.4.262