Disorders of the spine in diastrophic dwarfism

In this series of nine patients with diastrophic dwarfism, multiple problems with the spine were noted. Scoliosis was present in all patients and usually became rapidly progressive in the preadolescent years. The scoliosis had a strong tendency to become severe and rigid, with a large rotatory component. Early brace treatment appeared to have merit. Cervical kyphosis was noted in four patients; it resolved in three patients, but progressed in one to a 130-degree deformity, quadriplegia, and death. All patients in this series had spina bifida occulta in the cervical spine. Six of the nine patients demonstrated a narrowed interpedicular distance below the third lumbar vertebra, but none had spinal stenosis.