Sacral agenesis: a clinical evaluation of its management, heredity, and associated anomalies.

In the child born with sacral agenesis, the management of arthrogrypotic-like deformities, spinal and multisystem abnormalities poses several problems to the orthopedist. A clinical evaluation was undertaken on 17 patients and available parents in an effort to define better the heredity and proper management of this disorder. Flexion contractures of the hips and knees adversely affect ambulation potential and are rather resistant to standard treatment. The presence of protective sensation and proprioception, though, warrants aggressive attempts at correction, Subtrochanteric amputations are not necessary to achieve a functional ambulator. Spinal-pelvic instability does not preclude functional ambulation. In fact, there may be some benefit in maintaining motion in this region. Abolishment of spinal-pelvic motion by surgical fusion in the presence of hip contractures could impair sitting ability and the ability to walk upright. Congenital vertebral anomalies in the remainder of the spine, including the neck, occurred in 12 patients. Four patients had idiopathic-like curves. Only one patient had a normal spin above the level of agenesis. From an analysis of families, there was no obvious genetic association. Finally, the high frequency of multisystem associated congential abnormalities will necessitate a team approach to these patients.