Spinal disorders of dwarfism. Review of the literature and report of eighty cases

In a retrospective review of eighty patients with disproportionate short stature secondary to a dwarfing condition, we found that all had some manifestation of a spinal disorder. The most common abnormality was kyphosis, which was seen in fifty-seven patients (71 per cent). A scoliosis measuring more than 30 degrees was present in twenty-one patients (26 per cent). Atlanto-axial instability was documented in ten patients (13 per cent) and absence of the odontoid process, in five patients (6 per cent). Neural symptoms occurred in thirteen patients (16 per cent): paraparesis in ten and quadriparesis in three. Kyphosis was found to be a particular problem in patients with achondroplasia, spondyloepiphyseal dysplasia, the mucopolysaccharidoses, diastrophic dwarfism, and metatropic dwarfism. The thoracic kyphosis of spondyloepiphyseal dysplasia as well as the mild thoracolumbar kyphosis of other disorders responded well to treatment with a Milwaukee brace and kyphosis pads. Kyphosis of the cervical spine occurred only in patients with diastrophic dwarfism; three patients had resolution of the deformity while in one quadriplegia developed. Scoliosis requiring treatment were prevalent in patients with spondyloepiphyseal dysplasia, diastrophic dwarfism, chondrodystrophia calcificans congenita, and metatropic dwarfism. Early treatment of the scoliosis with a Milwaukee brace was beneficial in patients with spondyloepiphyseal dysplasia and diastrophic dwarfism, while it proved to be ineffective for the congenital scoliosis found in patients with chondrodystrophia calcificans congenita. Atlanto-axial instability or odontoid hypoplasia was found in patients with spondyloepiphyseal dysplasia, the mucopolysaccharidoses, metaphyseal dysostosis, and metatropic dwarfish, and may require surgical stabilization of the atlanto-axial spine. Neural complications associated with cord compression could be directly treated to atlanto-axial instability, cervical kyphosis, or thoracolumbar kyphosis. Cauda equina compression occurred only in patients with achondroplasia and was due to lumbar spinal stenosis. A decrease in the distance between the lumbar pedicles was common in diastrophic dwarfs also but cauda equina syndrome was not found in these patients.