Femoral, Hip, and Pelvic Anomalies in Tibial Deficiency and Their Impact on Treatment

Tibial deficiency (TD) is a rare congenital condition with an incidence of 5 to 21/million live births. While femoral and fibular deficiencies are more commonly recognized and frequently co-occur, associated femoral, hip, and pelvic (FHP) anomalies in TD remain under-characterized. Treatment options for TD include the use of orthotics, amputation with prosthetic management, and limb reconstruction. The presence of additional ipsilateral lower extremity anomalies and their impact on management are unknown. This study aims to characterize FHP anomalies in TD patients and assess their impact on treatment decisions.

A retrospective review was conducted on TD patients seen at seven tertiary surgical facilities between 2004 and 2022. Demographic data, radiographic findings, anomalies, and treatment details were collected and analyzed. TD was classified using the Jones classification when possible.

A total of 492 patients with 650 tibial-deficient limbs were included. FHP anomalies were identified in 19% of limbs, with femoral anomalies most common (13%), followed by hip anomalies (8%) and pelvic anomalies (1%). The majority (72%) of FHP anomalies occurred with Jones type 1 TD. Treatment modifications for limbs with these anomalies were required in 50%, primarily additional procedures, treatment/surgery for the additional leg length loss, or a change in the level of prosthesis.

FHP anomalies occur in 19% of limbs with TD. They necessitate additional treatment or a change in treatment plan for 9% of all TD limbs, and 50% of TD limbs with FHP anomalies. Further studies are needed to explore the functional outcomes for these patients with femoral, hip, and pelvic anomalies seen in conjunction with ipsilateral tibial deficiency and the impact on factors such as mobility and prosthesis selection.

Level III.