Centrifugal osteopetrosis: appendicular sclerosis with relative sparing of the vertebrae

A previously unreported pattern of bone involvement in autosomal dominant osteopetrosis is described in three affected members of a Vietnamese kindred. The hands, feet, distal bones, and skull were markedly osteosclerotic on radiologic examination. The vertebrae displayed very minimal thickening of...

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Bibliographic Details
Published in:Skeletal radiology 1995-01, Vol.24 (1), p.27-29
Main Authors: Kovacs, C S, Lambert, R G, Lavoie, G J, Siminoski, K
Format: Article
Language:English
Subjects:
Adolescent
Adult
Bone Density
Female
Fibula - diagnostic imaging
Fibula - injuries
Foot - diagnostic imaging
Fractures, Ununited - diagnostic imaging
Hand - diagnostic imaging
Humans
Male
Osteopetrosis - diagnostic imaging
Osteopetrosis - genetics
Osteosclerosis - diagnostic imaging
Osteosclerosis - genetics
Pelvic Bones - diagnostic imaging
Radiography
Skull - diagnostic imaging
Spinal Diseases - diagnostic imaging
Spinal Diseases - genetics
Tibial Fractures - diagnostic imaging
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Summary:A previously unreported pattern of bone involvement in autosomal dominant osteopetrosis is described in three affected members of a Vietnamese kindred. The hands, feet, distal bones, and skull were markedly osteosclerotic on radiologic examination. The vertebrae displayed very minimal thickening of the endplates in two of the cases, and no visible involvement in the third. The vertebral bone density (assessed by dual-energy X-ray absorptiometry) was markedly elevated, suggesting that the spine was not completely spared. This pattern contrasts with the predominantly axial distribution of the recognized variants of osteopetrosis.
ISSN:0364-2348
1432-2161
DOI:10.1007/BF02425942