Classification of proximal femoral focal deficiency pf openi. Van nes rotationplasty in two patients with congenital. Proximal femoral focal deficiency pffd is a spectrum of congenital osseous anomalies characterized by a deficiency in the structure of the proximal femur. Classification of proximal femoral focal deficiency pf. From 1986 to 2018, 26 patients 18 males, eight females met study inclusion criteria mean followup. This disorder of the femurs has been called pffd proximal focal femoral deficiency in this country aitken, 1969 and is probably heterogeneous.
Some other skeletal anomalies, especially fibular hemimelia, usually accompany the disorder. Reconstructive surgery to stabilise the hip joint in proximal. This in conjunction with articular incongruence, due to deformity of the femoral head, resulted in mixed type femoroacetabular impingement when she was 10 years old. To illustrate the imaging modalities to used and spectrum of imaging findings in this disorder.
The deficiency results from failure in the development of the subtrochanteric portion of femoral shaft 1. This method does not permit definite classification during the first year of life. Since bilateral pffd and unusual facies have been reported before, we suggest an association between the robin anomalad and pffd. Proximal focal femoral deficiency pffd congenital short femur is a rare congenital anomaly occurs due to failure of normal development of the proximal femur resulting in limb shortening and pelvic abnormalities. Limb deficiency, including proximal femoral focal deficiency, tibial and fibular hemimelia, amputation % foot, including club foot, congenital vertical talus, flatfoot, coalitions, accessory navicular, bunions, cavus, polydactyly 36% torsional and angular deformity, including blounts disease. The disorder may affect one side or both, with the hip being deformed and the leg shortened. Proximal femoral focal deficiency pffd is a subset of a broader group called congenital femoral deficiency. Proximal focal femoral deficiency pffd is a rare congenital anomaly characterised by a developmental defect of the proximal part of the femur and hip joint. Fibular hemimelia is the aplasia or hypoplasia of the fibula. Proximal femoral focal deficiency pffd steps charity. Lowery has been involved in both competitive skiing and swimming. In proximal focal femoral deficiency, both the femur and the hip are affected.
This anomaly ranges between from mild femoral shortening with varus deformity to the absence of both acetabulum and proximal femur. Mental disorders and chromosomal abnormalities are not usually present with proximal focal femoral deficiency pffd. It is a dysplastic phenomenon with predilections for the. The condition may be unilateral or bilateral and is often associated with other congenital anomalies. Case report unilateral isolated proximal femoral focal deficiency. Surgical hip dislocation and femoral neck osteochondroplasty successfully relieved. To learn more about congenital femoral deficiency, download dr. The clinical spectrum and associated abnormalities is described and the diagnosis and management of this entity is discussed. Proximal femoral focal deficiency is a complex deformity which can affect one or both lower extremities in varying degrees. For a discussion of the condition refer to the article proximal focal femoral deficiency one of the simplest and most widely used is that proposed by aitken 1 which is based on the anatomic relationship between the acetabulum and the proximal end of the femur and. Proximal femoral focal deficiency a rare congenital. Often children with pffd have other bone and muscle disorders such as malrotation, limblength discrepancies, fibular hemimelia, joint instability and muscle weakness that also must be addressed. A technique for fitting converted proximal femoral focal. The term proximal focal femoral deficiency pffd is used to describe congenital femoral deficiency and deformity of the proximal femur to be distinguished from the congenital short femur.
It is a rare condition with the inci dence ranging between 0. Pdf proximal femoral focal deficiency pffd researchgate. Congenital abnormalities of the femur with or without involvement of the hip joint are numerous and have been widely reported in the literature. Findings are consistent with proximal focal femoral deficiency pffd type a. Proximal means closest to the area of attachment to the body and focal refers to the point of growth, the long bone in the thigh is called the femur. Proximal femoral focal deficiency of the fetus early 3d.
Prenatal diagnosis of proximal femoral focal deficiency. The disorder characteristically presents as a shortened thigh. Pdf a 1yearold child with proximal femoral focal deficiency pffd is presented. May 17, 2018 the childrens hospital of philadelphia offers information on congenital femoral deficiency. Management including termination depends on the severity of the malformation. Also commonly seen is ipsilateral tibial shortening, equinovarus deformity and anomalies of the lateral digits. Proximal femoral focal deficiency pffd is an uncommon condition that affects about 1 in every 200,000 children, and can vary in severity from child to child. It is very uncommon condition that affects 1 in 200000 populations.
Nov 26, 2018 proximal femoral focal deficiency pffd is an uncommon problem, with an incidence ranging from 1 case per 50,000 population to 1 case per 200,000 population. Proximal femoral focal deficiency pffd rsna publications. Reconstructive surgery to stabilise the hip joint in. The first clue to most skeletal dysplasias is the identification of a short femur. Proximal femoral focal deficiency pediatrics orthobullets. In the past, pffd was commonly grouped with other disorders, such as coxa vara and short bowed femurs, which led to confusion and misunderstanding. Feb 05, 2020 proximal femoral focal deficiency is an extremely rare congenital anomaly with an incidence of 1. Congenital femoral deficiency cfd is a rare birth defect that is characterized by a short femur, associated with hip and knee deformity, deficiency, or instability. A symposium on proximal femoral focal deficiencya congenital anomaly.
Proximal femoral focal deficiency, a distinct clinical and radiographic entity that results in leg length discrepancy, has received little attention in the radiographic literature. The pediatric orthopaedic society of north america posna provides information about this condition. Proximal femoral focal deficiency clinical presentation. Significant variability in the clinical presentation and degree of deficiency is common. Classification of proximal focal femoral deficiency. When she was eight years old, because of a congenital bone defect, proximal focal femoral. Proximal femoral focal deficiency pffd is a rare congenital syndrome of unknown etiology. Proximal femoral focal deficiency, pffd, is a congenital anomaly of the pelvis and proximal femur which causes hip deformity and shortening and altered function of the involved lower extremity. Soft tissue anatomy of proximal femoral focal deficiency. Proximal focal femoral deficiency pffd and congenital short femur, are congenital present at birth conditions. Proximal focal femoral deficiency pffd is a heterogeneous disorder characterized by various degrees of femoral deficiencies and associated anomalies of the pelvis and lower limbs.
Proximal nearest the point of attachment or centre of the body. Twentyseven patients had two fully functional arms and hands, despite the fact that 8% of shoulders, 26% of elbowsforearms and 70% of hands were malformed. Lowery was born in russia and was adopted when she was four years old. Bilateral proximal femoral focal deficiency occurred twice as frequently among males, and function at maturity was primarily dependent upon leg. The more severe the case, the shallower the angle between the top and shaft of the femur. It typically presents as a shortened thigh, which is flexed, externally rotated and abducted. Proximal femoral focal deficiency pffd is an uncommon congenital defect that involves the femur and acetabulum in varying degrees.
Often children with pffd have other bone and muscle disorders such as malrotation, limblength discrepancies, fibular hemimelia, joint instability and muscle weakness that also. It is a rare congenital anomaly with an incidence of 1. Pffd, proximal focal femoral deficiency renatal sonography has become the most useful diagnostic tool for the detection and characterization of fetal osteochondral dysplasias. Outcomes of knee arthrodesis in proximal femoral focal. June 2 kargar c, guille jt, bowen jr 1993 lengenting of congenital lower limb deficiencies.
After delivery, the diagnosis was confirmed with skeletal radiographs and magnetic resonance imaging. Proximal focal femoral deficency pffd represents variable dysgenesis of the proximal femur. Luba lowery is a russianborn american paralympic athlete. The bony deformity presents as femoral deficiency and the focal lesion involve the proximal segment of the femur. Pdf proximal femoral focal deficiency researchgate.
There is no single approach to treatment that can be applied to every patient. Most cases are isolated but pffd can occur in conjunction with caudal regression or in infants of diabetic mothers. It sounds very complicated but when you look at each word individually it is actually a very good description of the condition. Proximal femoral focal deficiency trishla foundation. Proximal femoral focal deficiency is a congenital partial absence of the proximal end of the femur with shortening of the entire lower limb. It occurs unilaterally more commonly than bilaterally. Case report proximal femoral focal deficiency a case report. Proximal femoral focal deficiency is a term that has been used to describe a spectrum of femoral defects ranging from mild hypoplasia with varus bowing of the femur to complete absence of the. Children with pffd and their families are faced with many treatment decisions, both nonsurgical and surgical. Thirteen patients with pffd were classified based on a system describing acetabular shape and femoral position. We report a case of bilateral pffd together with fibular, patellar, tarsal and metatarsal bone agenesis, associated with undescended testis and. Proximal femoral focal deficiency childrens hospital of. Lowery represented the united states in the 2010 paralympic games.
Proximal femoral focal deficiency pffd, also known as dysgenesis of the proximal femur 4 and congenital short femur 23, is a rare congenital. Thirteen patients were studied and the degree of deficiency established using radiographic criteria. The soft tissue anatomy of aitken types a, b, c, and d proximal femoral focal deficiency pffd was examined by magnetic resonance imaging mri. We were very very happy shriners patients until she aged out of the system. Proximal femoral focal deficiency associated with fibular hemimelia. Background proximal femoral focal deficiency pffd is a rare congenital skeletal.
Pffd has a female bias with a maletofemale ratio of 1. All muscles were present, but most were smaller than their normal counterparts. Proximal femoral focal deficiency is a rare congenital anomaly characterized by limb malrotation, deficiency of the iliofemoral articulation, and limb length discrepancy. Its prenatal diagnosis has increased with the widespread use of fetal ultrasonography. Five individuals had severe malformations of the lower limbs and proximal femoral focal deficiency pffd, with significantly reduced function as found on the raos values. A girl with known proximal femoral focal deficiency presented with perthes disease at 5 years of age. Unilateral isolated proximal femoral focal deficiency. A symposium on proximal femoral focal deficiency a congenital anomaly. The condition that has probably been best described and documented is congenital or infantiie coxa vara 35, 7, 9, 12. This congenital anomaly characterized by failure of normal development of the proximal femur and hip joint, and usually seen with fibular aplasiahypoplasia. It is a dysplastic phenomenon with predilections for the proximal twothirds of the femur leading to limb length discrepancies. We report two cases of proximal femoral focal deficiency, which is a rare.
It explains guidance advice from nice the national institute for health and clinical excellence. Proximal focal femoral deficiency pffd is a rare congenital skeletal abnormality characterised by the partial absence of the proximal femoral segment with shortening of the entire lower extremity. Congenital femoral deficiency proximal femoral focal. Proximal femoral focal deficiency associated with the robin. Proximal femoral focal deficiency 3 free download as powerpoint presentation. Proximal femoral focal deficiency is a rare anomaly, occurring with a frequency of approximately 150,0002,00,000 live births.
The clinical spectrum and associated abnormalities is. Pdf proximal femoral focal deficiency is a rare anomaly, occurring with a frequency of approximately 1500002,00000 live births. Proximal focal femoral deficiency radiology reference. Louis with the most severe level of pffd, so she has, roughly speaking, an abovetheknee prosthetic.
Additional disorders can be present up to 70% of pffd cases. Estimating congenital short femur, or proximal femoral focal deficiency pffd, is a congenital anomaly of the pelvis and proximal femur. Paleys recent chapter on congenital femoral deficiency. Proximal focal femoral deficiency pffd is a rare congenital anomaly characterised by failure of normal development of the proximal femur and hip joint.
Pffd is the absence or shortening of the proximal femur, whereas. A case of unilateral proximal femoral focal deficiency pffd and the robin anomalad is reported. Proximal femoral focal deficiency pffd and fibular ahypoplasia fah. A characteristic pattern of soft tissue abnormalities is described. Proximal femoral focal deficiency a rare congenital entity. Isolated femoral hypoplasia is a rare congenital limb anomaly with an incidence of 1. Proximal femoral focal deficiency is an extremely rare congenital anomaly with an incidence of 1. Congenital short femur, are congenital present at birth conditions. Pdf proximal femoral focal deficiency pffd and fibular a. The similarities between distal focal femoral deficiency and the more common proximal femoral defects are stressed. Proximal femoral focal deficiencydefinition, classification, and management congenital anomalies of the proximal femur with or without involvement of the iliofemoral joint have been observed and reported for many years 1. The femoral head, as well as acetabulum, are intact. Because of this, consideration of the muscles of the hip and upper femur is crucial to avoid developing further complications.
Proximal focal femoral deficiency pffd is part of a spectrum of congenital deformities affecting the femur, more comprehensively named congenital femoral deficiency cfd. Proximal femoral focal deficiency pffd proximal femoral focal deficiency pffd shetty, avinash. Lenz 1977 stated that he had collected more than 350 cases and found no familial occurrence or parental consanguinity. In prenatal ultrasonographic examination, the early recognition and exclusion of skeletal dysplasias is important. Osteomyelitis in an infant with proximal focal femoral. Proximal femoral focal deficiency pffd, also known as congenital femoral deficiency cfd, is a rare, nonhereditary birth defect that affects the pelvis, particularly the hip bone, and the proximal femur. The diagnosis and classification have been based mainly on plain radiograph findings.
Proximal femoral focal deficiency congenital short femur. Congenital proximal femoral focal deficiency is the congenital birth disorder in which femur bone along with adjoining joint is malformed deformity, underdevelop or not develop at all deficiency. Isolated unilateral proximal focal femoral deficiency. Congenital femoral deficiency genetic and rare diseases. Classification of proximal femoral deficiency pffd can be complicated and numerous such classifications have been proposed. Even though it is important concerning the patients who will undergo walking and lengthening reconstruction surgery in terms of stability, it nevertheless has an adverse effect that complicates the compatibility of prosthesis. Proximal femoral focal deficiency pffd is a rare 1. Although proximal femoral focal deficiency pffd is an uncommon problem, with an incidence ranging from 1 case per 50,000 population to 1 case per 200,000 population, it is a complex one. The problems seen in patients with pffd are discrepancy in leg length, instability of the hip, contractures of the hip and knee, unequal level of the knee. Marthese ellul, marcelle chircop, charles grixti, victor grech 2008 proximal femoral focal deficiency a case report. Pffd is also known as congenital proximal femoral deficiency cpfd. It may occur with or without fibular hemimelia and can be unilateral or bilateral in presentation. Foxa deformities of the hip are deformities of the femoral head at its connection to the femoral neck. There is usually major shortening sometimes the foot is level with the knee of the other leg.
Proximal femoral focal deficiency pffd is a maldevelopment of the proximal femur and acetabulum. Mri of the pelvis revealed abnormal shortening of the left femur with multiple levels segmentation. The more severe types were previously known as proximal femoral focal deficiency pffd. Abstracts 28th annual meeting of the childrens orthopaedics, bonn, 1516 march 2014 the authors 2014.
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