600 Section - Functional Adaptation and Rehabilitation in Bilateral Proximal Femoral Focal Deficiency with Trans-Humeral Amelia: A Case-Based Approach to Mobility and Prosthetic Planning

A 4-year 3-month-old male presented to the multidisciplinary limb difference clinic after recently immigrating from Africa. Initial evaluation and radiographic images demonstrated severe bilateral PFFD (absent femurs), fibular hemimelia, and bilateral upper limb amelia (transhumeral level). A calcaneus was present in the left foot; however, all other tarsal bones bilaterally are absent. The lower limbs present with severe bilateral pes planovalgus with 90-degree external foot progression angles and tibias are dislocated at the pelvis articulation. Manual muscle testing demonstrated functional strength at shoulders and hips (at least 4+/5). Qualitative ultrasound evaluation of the lower extremities suggested preserved muscle architecture and presence of major muscle groups with atypical tendinous attachments. Gait analysis demonstrated reciprocal pattern with primary weightbearing through his heel, significant compensation with circumduction and pelvic rotation. When running, his speed significantly increases but he does not achieve a double float. 

Discussions: Complex quadrilateral limb deficiencies present unique challenges in pediatric rehabilitation, requiring multidisciplinary assessment and individualized treatment planning. Despite these anatomical limitations, the patient has achieved independent ambulation by 18 months. He demonstrated exceptional adaptive upper extremity function and can throw a ball, open a backpack, manipulate a camera, and self-feed. He uses chin and mouth for object manipulation with his upper limbs and Functional Mobility Scale scores were 5-5-1. Current management includes custom solid AFOs to provide a more stable lever for gait and foot protection during ambulation and physical therapy for brace integration and proximal muscle strengthening. The multidisciplinary team continues to follow closely for future surgical and prosthetic interventions.


Conclusions: Children with complex congenital limb deficiencies can achieve remarkable functional independence through adaptive strategies. This case emphasizes the value of multidisciplinary collaboration, gait analysis, and ultrasound to influence treatment decisions.