Dysspondylochondromatosis.
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.
Freisinger
P
P
U.R.A. 584 du C.N.R.S., Hôpital des Enfant-Malades, Paris, France.
Finidori
G
G
Maroteaux
P
P
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D002675:Child, Preschool; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics; D004687:Enchondromatosis / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D006132:Growth Plate / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging; D013577:Syndrome