Bone dysplasia characterized deformity of extremities, limited joint movement, and ulnar deviation of the hands, excrescence at diaphyseal end of bones; ribs and scapula also involved, never the skull. Short stature is a variable feature. Neurologic complication from nerve or spinal cord compression. Onset of symptoms takes place during the first decade of life. Etiology unknown. The syndrome is transmitted as an autosomal dominant trait with complete penetrance in males and slightly reduced penetrance in females.
- R. Virchow:
Über multiple Exostosen. Berliner klinische Wochenschrift, 1891, 82: 1082.
- A. Ehrenfried:
Multiple cartilaginous exostoses hereditary deforming chondrodysplasia. A brief report on a little known disease.
Journal of the American Medical Association, Chicago, 1915, 64: 1642-1646.