Spondyloenchondrodysplasia. Enchondromatomosis with severe platyspondyly in two brothers

Abstract

Two brothers affected by enchondromatosis with marked involvement of the spine including platyspondyly were followed for 12 years. Both brothers were of short stature and normal intelligence. Vertebral involvement in multiple enchondromatosis is very rare. To our knowledge, marked generalized platyspondyly has not been described in the literature as part of this condition. At present, this form cannot be placed within any previously described category. A new term--spondyloenchondrodysplasia--is proposed for this condition which may either be a subform of multiple enchondromatosis or an entirely different and distinct entity.