Progressive Scoliosis, Complete Transverse Upper Extremity Deficiencies and Hypoplastic Femur-A Case Report


Spinal deformities presenting in association with congenital limb deficiencies is well recognized. This is the report of such an occurrence and how orthotic, prosthetic, and ultimately surgical management was modified for the treatment of both in a child followed for 11 years.

The patient first presented at age 2 years with bilateral upper extremity transverse complete deficiencies, congenitally shortened right femur, and a malignant infantile idiopathic curve pattern.

Over the years, treatment of the spine has included spinal orthotics, electrical spinal stimulation, subcutaneous spinal instrumentation and finally, spinal arthrodesis. There have been periods of prosthetic use for the limb deficiencies at times incorporated with a spinal orthosis. There have been periods of using a heal and sole lift and ultimately a pangenu epiphysiodesis.

The form or forms of treatment reflected the needs of the patient, her pathological condition, and the needs of her parents at different ages. Now that she is near skeletal maturity, those treatments were evaluated. Prosthetics were rejected early, but needed to be tried. Spinal orthotics were compatible with lower extremity activities of daily living and perhaps slowed curve progression. Ultimately surgery was necessary and did not interfere with function. The leg equalization procedure was also planned to minimize potential loss of function as a result of the surgery.

The multiple treatment modalities experienced with this patient can be of assistance to others confronted with those associated anomalies.

SIU School of Medicine, Department of Surgery, PO Box 19230, Springfield, IL 627049230