Proximal Femoral Focal Deficiency A Case Report

Vol 1 | Issue 2 | Oct-Dec 2015 | page: 17-19 | Sagar Jaiswal[1], Chirag Patel[1], Sanjay soni[1], Rajnikant Machhi[1].

Authors : Sagar Jaiswal[1], Chirag Patel[1], Sanjay soni[1], Rajnikant Machhi[1].

[1] Department of Orthopaedics, SSG HOSPITAL, Vadodara. India.

Address of Correspondence
Dr. Sagar B. Jaiswal
Room No. 75, Second Floor, New RMO Hostel, SSG Hospital,
Jail Road, Vadodara-390001.
Email –


Introduction: Proximal Femoral Focal Deficiency (PFFD) is a rare congenital anomaly , resulting in varying degrees of femoral hypoplasia that causes limb shortening pelvic abnormalities and reduction in the optimal function of the limb. It may be associated with other osseous and systemic anomalies. The exact aetiology is not known and various theories have been put forth .We present a case of an isolated unilateral PFFD that was born locally.
Case Report: A 7 yr old female child was brought to out-patient department at our institute for disability certificate and for opinion with regard to any treatment for the limb anomaly , if any. She was having a short right lower limb , shortened to the level of opposite knee. Detailed history was obtained and she was examined clinically as well as radiologically. She was diagnosed as a case of PFFD. The parents were counselled in detail with regard to the condition and the possible treatment options available. Patients parent refused for any form of treatment for the child.
Conclusion: PFFD is a rare congenital anomaly with variable degree of absence of length of femur. It affects the patient physically, socially as well as psychologically. Proper evaluation and its management accordingly can definitely help the patient to lead a socially and economically productive life.
Keywords: Congenital, limb shortening , femur.


Proximal Femoral Focal Deficiency (PFFD) is a rare (1:50,000 live births) but a complex congenital anomaly that results in broad spectrum of femoral deficiencies. Mild forms results in minor hypoplasia of the femur[6] , whereas severe involvement may results in complete agenesis of femur; resulting into limb shortening and pelvic abnormalities. It may present as unilateral isolated anomaly or may be bilateral (15%) and associated with other anomalies which includes fibular hemimelia(60-70%) , shortened tibia & fibula , absent or hypoplastic patella , variably unstable hip joint , limb malrotation, agenesis of cruciate ligaments of knee. A variety of other congenital anomalies(70%) have been reported with PFFD including cleft palate, clubfoot, talocalcaneal coalition , congenital cardiac defects , spinal dysplasias and facial dysplasias[1,2,]. It may involve contralateral upper and lower limb variably(50%). Various classification system have been given but the most widely used is the Aitken classification to provide a systematic taxonomy of this condition. we present a case of unilateral isolated PFFD[1,2,16].

Case report

Our patient is a 7 yrs old female patient. She was born as a full term normal delivery. The prenatal , intranatal and the immediate postnatal period were uneventful. The parents are healthy and unrelated and there is no family history of the similar condition or any other congenital anomaly. There is no history of abortion. Our patients failed to have any significant prenatal history of complications to which we could link the occurrence of their condition. Physical examination(Fig. 2) showed a short right lower limb with absent thigh. The limb is flexed , abducted & externally rotated. The proximal thigh quickly tapers to the knee. The hip joint is unstable with positive pistoning. The knee joint is also unstable with generalized hypoplasia reported. The leg and foot examination virtually unremarkable. Systemic examination including, CNS, CVS, ophthalmological and other musculoskeletal examination including pelvis & spine were unremarkable. Radiological examination(Fig.3) showed near complete absence of right femur with only a remnant of distal femur present. There is an absence of right acetabulum and right fibula. X-ray of other parts of the body were normal. Laboratory data was not significant. Patients parent were explained in detail about the condition that what exactly the problem is and what the deficiencies their child is having when compared to the normal child of the same age group. We also explained theme about the all possible treatment options available and there their possible consequences. But patients parent refused any form of treatment to their child.

Figure 1, 2 and 3


PFFD is a rare congenital anomaly of the pelvis and proximal femur with variable degrees of reduction and altered function of the involved extremity; however , a portion of the femur is always present, that differentiates the condition from complete femoral agenesis. The condition is mostly sporadic but a familial form has also been described[14]. The aetiology is as such unknown , but certain theories have been proposed and agents implicated. The sclerotome subtraction theory states that injury to the neural crest cells that form precursors to the peripheral sensory nerves of L4 and L5 results in PFFD[5,9]. Alternative hypothesis states that PFFD is caused by a defect in the proliferation and maturation of the chondrocytes at the growth plate. Thalidomide has been implicated as a cause when the mother is exposed to it between 4th to 6th weeks of gestation. Other agents which implicated but not proven as a causative factor includes anoxia ,ischemia , irradiation , bacterial and viral infections and their toxins hormones , mechanical energy , and thermal injury. No chromosomal abnormalities have been reported with PFFD. Maternal diabetes has also been implicated in femoral hypoplasia. Syndromic association of PFFD has been described in Pierre Robin anomalad which includes coexistence of bilateral PFFD with unusual facies. The unusual facies as described by Daentl includes micrognathia (glossoptosis) , and cleft palate[10,11,12].

Final Table In early 20th century Golding [17, 18] proposed that the short femur of micromelia and the deformity called congenital coxa vara were variations of the same condition. Later Amstutz and Wilson [3,4] discussed cases of dysgenesis of the proximal femur in which the essential components were femoral shortening and coxa vara. Subcategories of coxa vara were congenital short femur with coxa vara, congenitally bowed femur with coxa vara, and infantile coxa vara. In the patients with a congenitally bowed femur and coxa vara, the varus occurred below the level of the trochanters, and there was often sclerosis in the area of varus. Cases of congenitally short femur with coxa vara and congenitally bowed femur with coxa vara had other skeletal anomalies, whereas cases of infaltile coxa vara did not. Cases of infantile coxa vara have a normal subtrochanteric region and often have a vertical lucent line in the femoral neck across the area of varus with a small triangular detached fragment of bone inferior to it. Also the infantile coxa vara is differentiated by the presence of limp after weight bearing.  Aitken [3,4] also has stressed that, proximal femoral focal deficiency is a descriptive name for a condition which causes shortening due to a bony deficiency in the femur, in contrast to shortening due to angular or rotatory malalignment. Keeping in mind thefrequency of associated skeletal anomalies in cases of congenitally bowed femur with coxa vara and congenitally short femur with coxa vara, we consider these conditions as part of the spectrum of proximal femoral focal deficiency and consider infantile coxa vara to be a separate entity. The management of PFFD requires a multidisciplinary approach including a paediatric orthopaedic surgeon , prosthetist , and a physical therapist . The aim of the treatment is to provide proximal stability , optimal function and cosmetically acceptable appearance. The treatment must be individualized depending on : limb length inequality , presence of and the severity of the deformities, adequacy of the mascularature, stability of the joints. If the foot is at the level of the opposite knee, the foot may be amputated and the knee fused to provide an above knee stump to allow an above knee prosthesis to be fitted[15]. An alternative procedure is a rotationplasty where the foot and ankle are rotated 180° and the knee fused so that the foot faces backwards and acts as a new knee. Therefore variety of options are available which includes limb lengthening , femoral-pelvic fusion , knee arthrodesis , osteotomies , epiphysiodesis rotationplasty[8], and amputation . Prosthetic options[7,15] are custom prosthesis, extension prosthesis , and rotation prosthesis.


Though PFFD is a rare limb anomaly it has great impact on the life the affected patient , which otherwise is normal by growth and development, particularly during their childhood when they grow in peer environment at house, school and social area. Hence timely diagnosis, proper evaluation and accordingly exact management can help the patient to stand themselves capable of living good life. It is of paramount importance to help them by physical and vocational rehabilitation after their surgical treatment..

Clinical Message

Management of PFFD poses a great challenge both to the orthopaedic surgeon and family members. The condition has variable presentation. Elaborative evaluation and management is very essential which will have striking effect on the life of patient.


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15. Hall, John E., and Dietrich Bochman, The surgical and prosthetic management of proximal femoral focal deficiency, pp. 77-81, in Proximal Femoral Focal Deficiency: A Congenital Anomaly. National Academy of Sciences Publication No. 1734, 1969.
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How to Cite this Article: Jaiswal S, Patel C, Soni S, Machhi R. Proximal Femoral Focal Deficiency A Case Report. International Journal of Surgical Cases 2015  Oct-Dec;1(2): 17-19.          


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