Chief Medical Officer Elizabeth Seton Children's White Plains, New York, United States
Case Diagnosis: We present two cases of Proximal femoral focal deficiency (PFFD). One 7-year-old girl and 12-month-old girl with PFFD with leg length discrepancy and inability to walk.
Case Description: The 7-year-old girl had tibia hemimelia, congenital deformities of the hips, and contractures of the ankles and underwent left lower extremity (LLE) lengthening. The 12-month old girl had torticollis and plagiocephaly. Both patients were seen by a pediatric physiatrist in regular bases and received twice weekly physical therapy. In order to support their ambulation and weight bearing, unique personalized prosthetic devices were developed with a hinged ankle-foot orthosis (AFO) based on their measurements. Foot orthosis lifts were individualized to alleviate the discrepancies in leg lengths in order to help weight bearing on the affected limb. Both patients' functional ambulation improved with placement of orthosis and ongoing physical therapy. Patients were able to ambulate without any limping and pain, and subsequently demonstrated markedly improved mobilization.
Discussions: PFFD is an uncommon, complex congenital anomaly with an unknown etiology that affects approximately one in every 50,000 to 200,000 children worldwide. The characteristics of PFFD include malformed or incompletely developed upper portion of the femur bone which causes the affected leg to be shorter in length than the unaffected leg. In most cases, current management strategies of PFFD aim to improve functional ambulation and are mostly dependent on the degree of femoral shortening and the status of the hip and knee joint.
Conclusions: PFFD is a disorder that could result in functional improvement with adequate rehabilitation strategies with individualized management and tailored orthotic devices. The ultimate goal of rehabilitation strategies is achieving leg length equality and maximizing patients’ potential for ambulation. Pediatric physiatrists can offer effective treatment and maximize functional ability of pediatric patients with PFFD by individualizing AFOs.