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