Cervical cord compression and femoral neuropathy in hereditary multiple exostoses.
نویسندگان
چکیده
منابع مشابه
Hereditary multiple exostoses causing cord compression.
Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the presence of multiple osseous prominences. It can occur sporadically or within families (22 - 56%). Two genes, EXT1 and EXT2 located respectively at 8q24 and 11p11-p12, have been isolated to cause HME. It can cause gross deformity of limbs and growth disturbance which is quite a common complicatio...
متن کاملHereditary 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 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 Neurology, Neurosurgery & Psychiatry
سال: 1990
ISSN: 0022-3050
DOI: 10.1136/jnnp.53.5.439