Proximal femoral defect is a malformation in the upper portion of the end of the femur that occurs very rarely. In most cases, proximal femoral defect shows up on only one side of the body. Various degrees of severity of proximal femoral defect are possible, ranging from minor shortening to complete loss of the femur.
What is a proximal femoral defect?
A common synonym for proximal femoral defect is coxa vara. In English, the condition is known as proximal femoral focal deficiency, from which the commonly used abbreviation PFFD is derived. In principle, proximal femoral deficiency varies greatly in its expression in individual cases. While the exact prevalence of proximal femoral defect is not yet known, current estimates put the frequency of the condition at approximately 2:1,000,000. In numerous cases, proximal femoral defect occurs together with other pathological malformations in patients. Particularly frequently, those suffering from proximal femoral defect also simultaneously suffer from patellar aplasia, fibular hemimelia, and instability of the knees. It is also possible that proximal femoral defect is associated with deformities of the feet and hypoplasia of the fibula and tibia.
Causes
Currently, no definite conclusions can be made regarding the causes and background of development of proximal femoral defect. However, the majority of researchers agree that proximal femoral defect is not a hereditary disease. Instead, there are probably certain external factors that lead to the development of the proximal femoral defect in affected children. For example, studies are available with regard to the substance thalidomide. They show that exposure of the expectant mother to this substance during the fifth or sixth week of pregnancy may cause proximal femoral defect.
Symptoms, complaints, and signs
The symptoms of proximal femoral defect depend greatly on the individual manifestation of the condition and, therefore, the individual case. A wide range of mild symptoms to severe impairment of those suffering from proximal femoral defect is possible. The traditional subdivision of proximal femoral defect is based on radiological aspects and divides the disease into four forms. Either there is a bony connection between the head of the femur and the shaft or there is no such connection. In addition, it is possible for the femoral head to be either partially or barely present. Complaints increase as the malformation of the femoral head increases. Based on a more modern subdivision of the proximal femoral defect, the symptoms are manifested in the complete absence of the femur and damage to the pelvis. Also, a defective or non-existent connection between the femoral head and the shaft, as well as malformations in the middle of the shaft with hypoplasia, show up as accompanying symptoms. In some patients, proximal femoral defect manifests as coxa cara or coxa valga and a hypoplastic femur.
Diagnosis and course of the disease
Proximal femoral defect is congenital, so certain malformations are usually evident at the birth of the affected baby. Subsequently, physicians order further examinations of newborns to arrive at a diagnosis as quickly as possible. Orthopedists play an important role in the diagnosis of proximal femoral defect, usually using various clinical examination methods in the presence of the parents or guardians. Initially, the most important are the externally visible signs of the deformity. Here, shortening of the leg on one side of the body is the most important symptom. Severe cases can be detected immediately after birth. Mild shortening may not appear until young children are born. The physician usually uses imaging techniques to diagnose and determine the severity of the proximal femoral defect. For example, X-ray technology is used as standard in the examination of the proximal femoral defect. Here the specialist recognizes the bony attachments in the area of the femur. In young children, the physician usually uses sonographic methods of examination. Another typical feature of the proximal femoral defect and helpful for diagnosis is that the muscles are hypolastic in some cases.Differential diagnosis with differentiation of proximal femoral defect from femoral-facial syndrome and Fuhrmann syndrome is important.
Complications
The complications that can occur with a proximal femoral defect depend on the severity of the malformation of the upper end of the femur. This also determines the difference in leg lengths. In most cases, the shortening of the leg is hardly visible. Then there are usually no further complaints or complications. However, a severely shortened leg leads to difficulties in standing and walking. The patient limps. As a result, a curvature of the spine may develop. Further postural damage to the spine occurs, which can lead to permanent pain. Thus, the pain occurs either at rest or during exertion. Overall, this also reduces the resilience of the affected children. In addition to the pain, the children may also be exposed to bullying and teasing. Both represent a considerable psychological burden. As a result, it is not uncommon for depression or other mental illnesses to develop. The depression can even lead to suicidal tendencies. In many cases, bullying also leads to social exclusion. Affected children often withdraw and avoid social contacts. Other mental illnesses can also develop on this basis. However, proper treatment can prevent many complications. Leg lengthening operations are usually not performed. These are often even dangerous or at least do not bring any improvement. Usually shoe elevations with special shoes and insoles are enough.
When should you go to the doctor?
In many cases, the proximal femoral defect can be seen immediately after birth. If the delivery takes place in an inpatient setting or is attended by an obstetrician, initial testing is automatically initiated by the attending care team. Therefore, the child’s parents do not need to take any action. They are advised to be in close communication with the attending physicians in order to make necessary decisions for the treatment and improvement of the child’s health as quickly as possible. If visual conspicuities of the physique become apparent only in the further growth and development process of the child, a physician is required. In particular, abnormalities of the thigh should be presented to a doctor for examination. Problems with locomotion, gait insecurities, limitations of general mobility or peculiarities of the movement patterns should be clarified by a doctor. Pain, deformities or malpositions, musculoskeletal problems, and hypersensitivity to touch should be examined and treated. In addition to physical deformities, emotional or mental abnormalities may occur with this condition. A visit to the doctor is therefore also necessary if behavioral disorders, depressive phases or a severely reduced self-confidence become apparent. Withdrawal from social life, a lowered sense of well-being, and abnormalities in social behavior should be discussed with a physician or therapist.
Treatment and therapy
The measures of therapy depend on the individual complaints or the severity of the proximal femoral defect. In mild forms of proximal femoral defect, orthoses, elevation of shoes by special soles and insoles, and prostheses usually provide relief. In contrast, corrections or lengthening of the bones are not reasonable options in the majority of cases, and they also carry considerable risks. In the case of shepherd’s crook deformity, implantation of an endoprosthesis is often performed. The surgical intervention already takes place in patients in the growth phase. In view of the rarity of the proximal femoral defect, it is essential to have therapeutic measures performed in suitable specialized centers.
Prevention
Proximal femoral defect is congenital and therefore determined at birth. The particular expression and severity of the defect are also already determined. Thus, it is not possible to effectively prevent the proximal femoral defect. Therefore, appropriate therapeutic procedures are particularly important. Even mild malformations require appropriate treatment, as ignoring the malformation, for example, will lead to long-term damage to the joints.
Follow-up care
Optimal aftercare essentially depends on the type of treatment method that preceded it.This requires a therapy-spanning team that works together in timely coordination. If a surgical intervention has preceded, regular X-ray examinations are essential. Only in this way can a promising correction of the defect be monitored. In addition to specialists from pediatrics and orthopedics, specialists from the fields of orthotics/prosthesis construction and fitting should also be involved in the follow-up care. The regular involvement of an experienced physiotherapist is essential. At best, he or she has special training for this clinical picture. The focus of manual therapy is on maintaining joint mobility. This includes the hip, knee and foot. Attention is paid to maintaining spinal symmetry through appropriate muscle development. This is the only way to avoid the late consequences of incorrect loading. Physiotherapeutic follow-up must take place at regular intervals to ensure that the previous therapy is maintained. Ideally, this should be done several times a week. Certain exercises are supplemented and continued by the parents or family members at home. This is done under the guidance of the respective therapist. Treatment with the corresponding aftercare is not only time-consuming, but often also stressful for the patient as well as for the family. It is therefore recommended to consider the support of a psychologist.
What you can do yourself
For patients with a proximal femoral defect, care should be taken from an early age to ensure that their hips, knees, and ankles become mobile and, if possible, remain mobile throughout their lives. Ongoing physical therapy is recommended for this purpose. Young patients may temporarily reject this intensive therapy, but should be urged to keep the appointments. To avoid back pain, children should wear their orthotics as much as possible, even if they refuse them. Parents would do well to let their children play with the orthotics as well so they lose their fear of the orthotic device. Balancing gymnastics under the guidance of therapists or parents can prevent or balance spinal asymmetry. However, it should be performed consistently several times a day. Overall, femoral defect patients benefit from stretching, extension and muscle building exercises throughout their lives. To prevent the whole body from becoming misaligned, the abdomen and back in particular should be exercised on a sustained basis. After operations, it is advisable to take good care of the wound, as infections can quickly occur, especially in the joints. These in turn often lead to painful, sometimes even irreversible complications. To prevent this, the surgical wound should be kept sterile and its healing process regularly monitored.
