Proximal Femoral Focal Deficiency Research Articles

Proximal focal femoral deficiency—A rare entity in the sonographic differential diagnosis of developmental dysplasia of the hip

In the present study, we will describe the differential diagnosis of the rare hip anomaly of proximal focal femoral deficiency (PFFD), based on an analysis of 12,488 ultrasound images of the hips of 6244 neonates, examined in our orthopaedic clinics between 1988 and 1998. The clinical manifestations and ultrasound features of PFFD will be characterised and compared with those of the normal, the mildly dysplastic, and the severely dysplastic hip. Two cases of PFFD (0.032 %) were detected during the investigation period. Both neonates had been referred to the orthopaedic clinic for further evaluation after the initial ultrasound findings suggested an anomaly in the coxal-femoral region. Correct identification of anatomical structures in the acetabular region (acetabular labrum and lower edge of the ilium) was not possible, but the iliac line, femoral head, and greater trochanter could be reliably visualised. Because of these findings, a deformity in the coxal-femoral region was suspected, and further diagnosis was recommended. PFFD was subsequently diagnosed, and specific treatment was initiated. PFFD should be suspected in any neonate with suspicious clinical findings and failure of ultrasound to clearly visualise anatomical landmarks in the region of the acetabulum (acetabular labrum, lower edge of the ilium, cartilage-bone interface) despite the use of a sufficient imaging technique. Radiographs should then be obtained to confirm or refute the tentative diagnosis. Infants with PFFD can then receive proper treatment without unnecessary therapeutic trial and error.

Bifurcation of the femur with tibial agenesis and additional anomalies

Bifurcation of the femur and tibial agenesis are rare anomalies and have been described in both the Gollop-Wolfgang Complex and the tibial agenesis-ectrodactyly syndrome. We report on two patients with bifurcation of the femur and tibial agenesis. Hand ectrodactyly was seen in one of these patients. Both patients had unusual additional anomalies. The first patient had in addition proximal focal femoral deficiency, the other patient had a tracheo-esophageal fistula and pyloric stenosis. Clinical and genetic aspects are discussed.

Proximal femoral focal deficiency in a newborn

Proximal femoral focal deficiency in a newborn

Syndromes With Focal Femoral Deficiency

To further characterize the prenatal diagnosis of proximal focal femoral deficiency and to contrast this entity with a variety of other "syndromes" in which the femur may be deficient. We report 2 cases of proximal focal femoral deficiency and a case of femoral-facial syndrome. A series of 3 women whose fetuses had deficiency of 1 or both femurs were carefully analyzed for severity and for similarities and differences with other syndromes in which the femur may be deficient, as well as syndromes showing global skeletal abnormalities. Prenatal sonography is a valuable tool both for detecting cases of proximal focal femoral deficiency, separating them from syndromes showing global skeletal abnormalities, and for stratifying them according to severity.

Morphologic characteristics of acetabular dysplasia in proximal femoral focal deficiency.

A retrospective radiographic analysis of the acetabulum of 13 patients (14 hips) with proximal femoral focal deficiency (PFFD), clinically classified into Gillespie and Torode type 1, was performed to better understand its morphologic features at maturity. The version of the proximal part of the acetabulum was determined quantitatively and qualitatively. All 14 hips showed residual or borderline acetabular dysplasia with a mean lateral centre-edge angle of -1.5degrees and an acetabular index of 30degrees. The acetabular dome was retroverted in all hips and averaged -24degrees. Acetabular deficiency compared with the opposite side, while not present with respect to the anterior wall, averaged 12% with respect to the posterior wall. Dysplasia associated with type 1 PFFD is therefore fundamentally different from that seen in developmental residual hip dysplasia. Clinically, despite radiographic evidence of dysplasia, 57% were without clinical manifestations of hip pathology. This may be due to a number of factors including age of last radiograph, severity of dysplasia, and the decreased functional demand placed on the hip in some individuals with associated malformations. For the symptomatic hip, the posterior insufficiency and relative retroversion of the acetabular dome should be taken into consideration in planning reorientation procedures. This can help to prevent problems of persistent subluxation or acetabulo-femoral impingement following reconstruction.

Morphologic characteristics of acetabular dysplasia in proximal femoral focal deficiency

A retrospective radiographic analysis of the acetabulum of 13 patients (14 hips) with proximal femoral focal deficiency (PFFD), clinically classified into Gillespie and Torode type 1, was performed to better understand its morphologic features at maturity. The version of the proximal part of the acetabulum was determined quantitatively and qualitatively. All 14 hips showed residual or borderline acetabular dysplasia with a mean lateral centre–edge angle of −1.5° and an acetabular index of 30°. The acetabular dome was retroverted in all hips and averaged −24°. Acetabular deficiency compared with the opposite side, while not present with respect to the anterior wall, averaged 12% with respect to the posterior wall. Dysplasia associated with type 1 PFFD is therefore fundamentally different from that seen in developmental residual hip dysplasia. Clinically, despite radiographic evidence of dysplasia, 57% were without clinical manifestations of hip pathology. This may be due to a number of factors including age of last radiograph, severity of dysplasia, and the decreased functional demand placed on the hip in some individuals with associated malformations. For the symptomatic hip, the posterior insufficiency and relative retroversion of the acetabular dome should be taken into consideration in planning reorientation procedures. This can help to prevent problems of persistent subluxation or acetabulo-femoral impingement following reconstruction.

Patellofemoral Arthritis in a Fused Knee With Proximal Femoral Focal Deficiency

A patient with proximal femoral focal deficiency (PFFD) who underwent knee fusion without patella resection and Boyd amputation at age 2.5 years developed severe symptomatic patellofemoral arthritis 10 years later that required excision of her patella. A survey among the 780 members of the Pediatric Orthopaedic Society of North America with a 58% response rate showed that 8 of the 355 pediatric orthopaedists who perform knee fusion without patellar removal in PFFD have experienced problems with patellofemoral degeneration, whereas 57 surgeons excise the patella either routinely or occasionally. Nine respondents reported they use the patella as graft to enhance knee arthrodesis. Twenty-eight surgeons reported no experience in management of patients with PFFD, 3 prefer leg-lengthening procedures as the treatment of choice, and 16 encountered problems related to prosthetic fitting. Patellar resection may be considered when knee fusion and foot amputation are performed in children with PFFD to anticipate for late patellofemoral arthritis.

Treatment of Longitudinal Deficiency Affecting the Femur: Comparing Patient Mobility and Satisfaction Outcomes of Syme Amputation Against Extension Prosthesis

Patients with proximal focal femoral deficiency or longitudinal deficiency affecting the femur were selected from a large regional center. Twenty-eight such patients were identified and were divided into two groups depending on how their condition was managed. Group 1 had opted for the surgical approach of ankle disarticulation (Syme amputation) and the fitting of an above-the-knee prosthesis. The patients in group 2 had been managed in a nonsurgical fashion using an extension prosthesis. They were asked about their level of mobility using the recognized Locomotor Index and their overall satisfaction using self-designed questions. The two groups' scores were similar for mobility whether using their prosthesis or not, but group 1 had lower satisfaction scores than group 2. Current opinion advocates the use of surgery in the management of proximal focal femoral deficiency because it is believed to have better cosmetic and functional results, but in the authors' comparison similar scores for mobility were shown. The nonsurgical extension prosthesis was associated with fewer musculoskeletal and residual limb problems, fewer problems with public transport, and greater satisfaction than Syme amputation. Overall, this small study suggests that the nonsurgical approach is preferable.

Proximal femoral focal deficiency. Results of conservative and surgical treatment, critical analysis and indications

The treatment of proximal focal femoral deficiency (PFFD) has always been a challenge for the pediatric orthopaedic surgeon. Multiple conservative and surgical approaches have been recommended with frequently unsatisfactory results. We reviewed the medical records of 22 patients seen between 1981 and 1990, and evaluated the results and complications of 3 different treatments administered according to the extent of leg length discrepancy. Of the 22 patients, 5 with the greatest leg length discrepancy were treated with hip stabilization (group A), 14 patients had leg lengthening (group B) and 3 patients had conservative treatment and orthosis (group C). The average follow-up period was16.8 years (range, 10–22 years). Mean age of the patients at treatment was 5.8 years (range, 1–12 years) in group A, 8.4 years (range, 4–16 years) in group B and 3.3 years (range, 1-6 years) in group C. Roentgenograms showed stable hips (Fixsen and Lloyd-Robert's type I) in only 2 of 5 patients from group A and 7 of 14 patients of group B. The remaining were unstable hips (Fixsen and Lloyd-Robert's types II and III). In group B the Wagner apparatus was used in 12 cases, Orthofix in 1 case and Lazo-Canadell in 1 case. 6 patients in group B underwent more that one lengthening. The mean residual shortenings in groups A, B and C were, respectively, 12.2 cm (range, 2–27), 11.5 cm (range, 1–20) and 18.1 cm (range, 4–27). The patients were evaluated in reference to gait, range of motion at knee and hip levels, stability of the hip and knee and residual shortening on an original scoring scale. Group A showed 60.0% of good results (3 of 5 cases), group B 64.3% (9 of 14 cases) and group C 66.6% (2 of 3 cases). Among patients who sustained to femoral lengthening (group B), complications were osteitis (6 cases), angular deformity (3 cases), pseudoarthrosis (1 case), and fracture (1 case); group A presented 2 cases of pseudoarthrosis while group C had no complications. This experience confirms that the treatment of the patient must be individualized with reference to age, presence or absence of stable hip and other anomalies of the limb. The contribution we make for further evaluations is a proposed new scoring system.

Contrasts in gait mechanics of individuals with proximal femoral focal deficiency: Syme amputation versus Van Nes rotational osteotomy.

Lower-limb kinematics and kinetics during preferred and fast speeds of walking were measured in persons with proximal femoral focal deficiency to compare outcomes after Syme amputation (nine subjects) with those after Van Nes rotational osteotomy (10 subjects). Subjects with a Van Nes rotational osteotomy and full tibial rotation (seven subjects) demonstrated prosthetic knee function during stance as they were able to support a flexed-knee posture at both speeds and produced greater knee-extensor moments at preferred speeds as compared with the Syme group (p < 0.05). Nonprosthetic limb compensatory mechanics were significantly exacerbated in subjects with a Syme amputation compared with the Van Nes group: (a) stance-phase vaulting, resulting in greater inappropriate ankle-power generation at both walking speeds, (b) excessive hip-extensor moments at fast speeds, (c) excessive hip-power absorption and generation at both speeds, and (d) excessive knee-joint power generation at both speeds (p < 0.05). The improved gait after Van Nes rotational osteotomy is one factor that should be considered when making clinical decisions for children with proximal femoral focal deficiency.

Contrasts in Gait Mechanics of Individuals with Proximal Femoral Focal Deficiency: Syme Amputation Versus Van Nes Rotational Osteotomy

Contrasts in Gait Mechanics of Individuals with Proximal Femoral Focal Deficiency: Syme Amputation Versus Van Nes Rotational Osteotomy

Proximal Femoral Focal Deficiency(PFFD): More Than An Abnormal Hip.

As the name implies, proximal femoral focal deficiency (PFFD) is a failure in development of the proximal femur and acetabulum of varying degrees. This article reviews the classification schemes with illustrated examples. Clinical findings, associated anomalies, imaging, and treatment are discussed. Patients are classified by radiographs, often changing classes as the patientÕs skeleton matures. Magnetic resonance imaging (MRI) can aid in earlier and more accurate classification. The classification scheme exists to predict future function and the role of surgical intervention.

Fibular Hemimelia: More Than Just An Absent Bone.

Fibular hemimelia is a congenital deficiency or absence of the fibula. There is a spectrum of disease from mild fibular hypoplasia to fibular aplasia. The ipsilateral tibia may be hypoplastic, bowed or normal. Fibular hemimelia can be an isolated deformity of the lower leg but frequently it is associated with proximal focal femoral deficiency, deficiencies of the lateral aspect of the foot, or is part of a malformation syndrome. In this article, we review the embryology of the extremities, discuss proposed etiologies for fibular hemimelia, highlight associated abnormalities, and present the radiographic and imaging findings. Surgical treatment options and long-term outcomes are discussed.

Treatment of Proximal Femoral Focal Deficiency by Using a Hybrid Orthotic and Prosthetic Design

Treatment of Proximal Femoral Focal Deficiency by Using a Hybrid Orthotic and Prosthetic Design

Treatment of Proximal Femoral Focal Deficiency by Using a Hybrid Orthotic and Prosthetic Design

Treatment of Proximal Femoral Focal Deficiency by Using a Hybrid Orthotic and Prosthetic Design

Total hip arthroplasty in an adult with proximal femoral focal deficiency

A 40-year-old woman with isolated unilateral proximal femoral focal deficiency presented with 2 years of gradually increasing left hip pain that interfered with her activities of daily living. A total hip arthroplasty was performed through a posterior approach. At 12 months, she had minimal discomfort about the hip, a markedly increased level of activity, and improved gait, and she required no ambulatory aids. This procedure is cautiously recommended for use in selected patients with proximal femoral focal deficiency.

Proximal Femoral Focal Deficiency

Proximal femoral focal deficiency (PFFD) is an uncommon congenital defect that involves the femur and acetabulum in varying degrees. It may occur with or without fibular hemimelia and can be unilateral or bilateral in presentation. Children with PFFD and their families are faced with many treatment decisions, both nonsurgical and surgical. Nursing care is central in the care of these children and their families both for psychosocial support and teaching during the decision-making process and for being a patient advocate to help meet postoperative and rehabilitation goals.

A further case of vertical transmission of proximal femoral focal deficiency?

We report on a newborn boy with congenital asymmetrically hypoplastic fibulae, lateral oligodactyly, and mild left ectrodactyly. The patient's grandfather had a short femoral shaft with a slightly smaller collodiaphyseal angle on the left as compared to the right side, probably a proximal focal femoral deficiency (PFFD). The upper limbs were not affected in either patient. PFFD in the grandfather and hypoplastic fibulae with lateral ray defects in the grandson raise the possibility of genetic transmission, specifically autosomal-dominant inheritance with variable penetrance and expressivity. This case gives further support to the fibular developmental field concept postulated by Lewin und Opitz [1986: Am J Med Genet (Suppl) 2:215-238].

A further case of vertical transmission of proximal femoral focal deficiency?

A further case of vertical transmission of proximal femoral focal deficiency?

Radiological Study of Severe Proximal Femoral Focal Deficiency

Twenty-two hips in 20 children, all classified as Amstutz type 3 proximal femoral focal deficiency, were studied by means of plain radiographs, arthrograms (30), ultrasound examination (six), computed tomography (CT) scans (including five arthrographies with CT) and magnetic resonance imaging (MRI; nine). These investigations demonstrated that in 15 hips, the superior femoral epiphysis was mobile in the acetabulum, whereas in six others, it was fixed and fused to the acetabulum. In one case, it was impossible to prove whether the epiphysis was mobile or fixed. The key radiologic and other image features that allow these conclusions to be drawn are described. The therapeutic implications are important, as it would be pointless or harmful to attempt to consolidate the femoral neck or put it into valgus when the epiphysis is spontaneously fixed to the acetabulum.