| Literature DB >> 8465851 |
P Freisinger1, G Finidori, P Maroteaux.
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.Entities:
Mesh:
Year: 1993 PMID: 8465851 DOI: 10.1002/ajmg.1320450413
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299