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Dysspondylochondromatosis.

作者信息

Freisinger P, Finidori G, Maroteaux P

机构信息

U.R.A. 584 du C.N.R.S., Hôpital des Enfant-Malades, Paris, France.

出版信息

Am J Med Genet. 1993 Feb 15;45(4):460-4. doi: 10.1002/ajmg.1320450413.

Abstract

We report on 3 unrelated patients with an unusual form of neonatal dwarfism with unequal limb length. Radiographs show multiple enchondromatosis of the tubular and the flat bones and severe segmentation abnormalities of the vertebral column. These observations differ from the hitherto described forms of multiple enchondromatosis with growth disorders of the spine, spondyloenchondroplasia, and others. Therefore we propose to delineate this disorder as a new entity.

摘要

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