Bilateral patellar tendon-bearing Symes-type prostheses in a severe case of Freeman-Sheldon syndrome in a 21-year-old woman presenting with uncorrectable equinovarus

Abstract

Described is the use of bilateral patellar tendon-bearing Symes-type prostheses in a severe case of Freeman-Sheldon syndrome (FSS) in a 21-year-old woman presenting with uncorrectable equinovarus and multiple surgical sequela of the lower extremities. FSS is considered a type of myopathic distal arthrogryposis; diagnosis requires the following: microstomia, whistling-face appearance, H-shaped chin dimpling, nasolabial folds, and multiple contractures of the hands and feet. Spinal deformities, metabolic and gastroenterological problems, other dysmorphic craniofacial characteristics, and visual and auditory impairments, are frequent findings. We highlight what we believe to be a unique approach to enhancing the patient's ability to ambulate and engage in physical activity, particularly critical determinates of wellness and long-term functional outcome in FSS, when the feet are non-correctable but not amputated. Important implications exist for physiatrists, other rehabilitation providers and surgeons regarding this likely under-diagnosed syndrome.

2015 BMJ Publishing Group Ltd.

Figures

Figure 1

Patient standing with early trial patellar tendon-bearing (PTB) Symes-type sockets. Notice that while the patient is able to stand pain-free, she does not appear confident due to the bi-valved fabrication of the sockets.

Figure 2

Craniofacial (A) and hand deformities (B). Notice typical FSS characteristics, including: h-shaped chin dimple, microstomia, nasolabial folds, lack of facial musculature, blepharophimosis, small nose with hypoplastic nasi alae, micrognathia, supraorbital ridge, ulnar deviation, cortical thumbs and camptodactyly.

Figure 3

Lower extremity photographs (A) and CT (B). In the ankle-foot complex, there is ankylosis of the talocrural joint (left 160°; right 100°) and metatarsals 2–4; weight bearing is on the anterolateral foot (proximal interphalangeal joints). The angle from the origin of the quadriceps to patellar tendon insertion on the tibial tuberosity has approximately a 30° lateral deviation.

Figure 4

Plain radiographic sunrise views of right (A) and left (B) patella.

Figure 5

Lower extremity photographs showing lateral deviation of right (A) and left (B) leg. Notice bilateral patellar subluxation with extension and tibiofemoral joint flexion contracture.

Figure 6

Photographs showing passive manual midline bracing of right (A) and left (B) patellae through passive range of motion. Notice that patellae are difficult to hold in midline position, even without joint motion.

Figure 7

Later patellar tendon-bearing (PTB) Symes-type trial sockets, with patient seated in her wheelchair during fitting, showing (A) left and (B) right sockets and (C) standing. Notice these feature typical medial windows and doors, giving the patient good distal weight support.

Figure 8

Final prostheses showing internal padding modifications. Notice various pad types required to accommodate difficult anatomy.

Figure 9

Patient standing during initial training with final prostheses. Notice patient’s confidence and comfort after relatively brief training.

Figure 10

Standing with prostheses from front, 8-year follow-up.

Figure 11

Standing with prostheses from right, 8-year follow-up. Prostheses are angled to maintain tibiofemoral joint flexion, preventing patellar subluxation that habitually occurred beyond 120°. Subluxation could also spontaneously occur at any angle.