Abstract

The clinical and roentgenographic findings in diastrophic (twisted) dwarfs are presented. The clinical findings of dwarfism, abnormal spinal curvatures, deformed hands and feet, micromelia, deformed ears and cleft palate with the distinctive radiographic findings, establish the diagnosis. Most of the clinical abnormalities are detectable in the neonate. Diastrophic dwarfism may simulate achondroplasia in some respects, but it is a separate syndrome since the mode of inheritance, structural skeletal pattern, and clinical manifestations are all different.

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