The spondylometaphyseal dysplasias. Clinical, radiologic and pathologic correlation

The spondylometaphyseal dysplasias (SMD) are a recently defined group of chondrodystrophies, characterized radiographically by vertebral and metaphyseal involvement. The authors have studied the clinical, radiological and pathological findings in 11 patients with SMD, as well as reviewing all previously reported cases in an attempt to clarify the classification of this group of disorders. Seven of these patients were of the Kozlowski type, an autosomal dominant trait. This is the only well defined entity among the SMD's. Their clinical presentation in early childhood is either with an abnormal gait or kyphoscoliosis. They later develop moderate disproportionate short stature and degenerative joint disease. The radiological features consist of generalized platyspondyly, hypoplastic pelvis with narrow sacrosciatic notches, mild coxa vara, metaphyseal changes most prominent in the hips and decreased ossification of carpal and tarsal bones. Pathologic examination reveals nonspecific changes including a fibrillar appearance of the intercolumnar matrix. A small number of patients with dysplasia of spine and metaphyses differing from the Kozlowski type SMD have been described under varying names. The authors' remaining 4 patients, as well as the previously described cases, are clinically, radiologically, and pathologically a heterogeneous group of disorders.