Proximal femoral focal deficiency

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Proximal femoral focal deficiency
Other namesCongenital Femoral Deficiency
PFFD.jpg
13-year-old girl with PFFD
Specialty Medical genetics   OOjs UI icon edit-ltr-progressive.svg

Proximal femoral focal deficiency (PFFD), also known as Congenital Femoral Deficiency (CFD), [1] is a rare, non-hereditary birth defect that affects the pelvis, particularly the hip bone, and the proximal femur. The disorder may affect one side or both, with the hip being deformed and the leg shortened.

Contents

It is commonly linked with the absence or shortening of a leg bone (fibular hemimelia) and the absence of a kneecap. Other linked birth defects include the dislocation or instability of the joint between the femur and the kneecap, a shortened tibia or fibula, and foot deformities.

Causes

The cause of PFFD is uncertain. Two hypotheses have been advanced. The theory of sclerotome subtraction posits injury to neural crest cells that are the precursors to sensory nerves at the level of L4 and L5. [2] Histologic studies of a fetus with unilateral PFFD have prompted an alternative hypothesis that PFFD is caused by a defect in maturation of chondrocytes (cartilage cells) at the growth plate. [3] In either hypothesis, the agent causing the injury is usually not known. Thalidomide is known to cause PFFD when the mother is exposed to it in the fifth or sixth week of pregnancy, and it is speculated that exposure to other toxins during pregnancy may also be a cause. Other etiologies that have been suggested, but not proven, include anoxia, ischemia, radiation, infection, hormones, and mechanical force. PFFD occurs sporadically, and does not appear to be hereditary. [2]

Diagnosis

Classifications

There are typically four classes (or types) of PFFD, ranging from class A to class D, as detailed by Aitken. [4]

Types of PFFD

Type A — The femur bone is slightly shorter on the proximal end (near the hip), and the femoral head (the ball of the thigh bone that goes into the hip socket) may not be solid enough to be seen on X-rays at birth, but later hardens (ossifies). This deformity is sometimes called congenital short femur, because the child’s anatomy from hip to knee is contiguous and similar to their peers except for the one shortened bone. In some cases, children with type A deformities will also have an externally rotated femur, which could lead to bowing of the legs (genu varum).

Type B — The femur bone is shorter on the proximal end (near the hip) and the defect affects both the femoral head (the ball) and the femoral shaft (the long part of the bone). This defect is more severe than type A deformities because it will not heal spontaneously and, at skeletal maturity, the proximal femur (lower part near the knee) will not connect with the femoral head.

Type C — The entire top half of the femur bone is absent, including the trochanters (the part of the bone in which muscles are attached to the upper thigh), and the femoral head. In type C deformities, the proximal femur is not connected to the hip in any way. In fact, many children with type C deformities also have acetabular dysplasia, a condition in which the acetabulum (hip socket) is shallow, abnormally shaped, and oriented outward.

Type D — This is the most severe form of proximal femoral focal deficiency, in which most of the femur bone is absent and only a small irregular piece of bone above the distal femoral epiphysis (the end of the femur bone at the knee) is present. In the pelvis, no acetabulum (hip socket) is present; instead the pelvic wall is flat on the affected side.

[5]

Treatment

Depending on the severity of the deformities, the treatment may include the amputation of the foot or part of the leg, lengthening of the femur, extension prosthesis, or custom shoe lifts. Amputation usually requires the use of prosthesis. Another alternative is a rotationplasty procedure, also known as Van Ness surgery. In this situation the foot and ankle are surgically removed, then attached to the femur. This creates a functional "knee joint". This allows the patient to be fit with a below knee prosthesis vs a traditional above knee prosthesis. [ citation needed ]

In less severe cases, the use of an Ilizarov apparatus can be successful in conjunction with hip and knee surgeries (depending on the status of the femoral head/kneecap) to extend the femur length to normal ranges. This method of treatment can be problematic in that the Ilizarov might need to be applied both during early childhood (to keep the femur from being extremely short at the onset of growth) and after puberty (to match leg lengths after growth has ended). The clear benefit of this approach, however, is that no prosthetics are needed and at the conclusion of surgical procedures the patient will not be biologically or anatomically different from a person born without PFFD.[ citation needed ]

In some cases the patient may not request treatment and instead elect to use a wheelchair or other aids to assist mobility. [ citation needed ]

Related Research Articles

Femur

The femur, or thigh bone, is the proximal bone of the hindlimb in tetrapod vertebrates. The head of the femur articulates with the acetabulum in the pelvic bone forming the hip joint, while the distal part of the femur articulates with the tibia (shinbone) and patella (kneecap), forming the knee joint. By most measures the two femurs are the strongest bones of the body, and in humans, the largest and thickest.

Knee Region around the kneecap

In humans and other primates, the knee joins the thigh with the leg and consists of two joints: one between the femur and tibia, and one between the femur and patella. It is the largest joint in the human body. The knee is a modified hinge joint, which permits flexion and extension as well as slight internal and external rotation. The knee is vulnerable to injury and to the development of osteoarthritis.

Thigh Area between the pelvis and the knee; upper leg

In human anatomy, the thigh is the area between the hip (pelvis) and the knee. Anatomically, it is part of the lower limb.

Legg–Calvé–Perthes disease Osteochondrosis that results in death and fracture located in hip joint

Legg–Calvé–Perthes disease (LCPD), is a childhood hip disorder initiated by a disruption of blood flow to the head of the femur. Due to the lack of blood flow, the bone dies and stops growing. Over time, healing occurs by new blood vessels infiltrating the dead bone and removing the necrotic bone which leads to a loss of bone mass and a weakening of the femoral head.

Hip dysplasia (canine)

In dogs, hip dysplasia is an abnormal formation of the hip socket that, in its more severe form, can eventually cause lameness and arthritis of the joints. It is a genetic (polygenic) trait that is affected by environmental factors. It is common in many dog breeds, particularly the larger breeds, and is the most common single cause of arthritis of the hips.

An osteotomy is a surgical operation whereby a bone is cut to shorten or lengthen it or to change its alignment. It is sometimes performed to correct a hallux valgus, or to straighten a bone that has healed crookedly following a fracture. It is also used to correct a coxa vara, genu valgum, and genu varum. The operation is done under a general anaesthetic.

Coxa vara Medical condition

Coxa vara is a deformity of the hip, whereby the angle between the head and the shaft of the femur is reduced to less than 120 degrees. This results in the leg being shortened and the development of a limp. It may be congenital and is commonly caused by injury, such as a fracture. It can also occur when the bone tissue in the neck of the femur is softer than normal, causing it to bend under the weight of the body. This may either be congenital or the result of a bone disorder. The most common cause of coxa vara is either congenital or developmental. Other common causes include metabolic bone diseases, post-Perthes deformity, osteomyelitis, and post traumatic. Shepherd's Crook deformity is a severe form of coxa vara where the proximal femur is severely deformed with a reduction in the neck shaft angle beyond 90 degrees. It is most commonly a sequela of osteogenesis imperfecta, Pagets disease, osteomyelitis, tumour and tumour-like conditions.

Varus deformity Deformity in which the bone near a joint is angled inward

A varus deformity is an excessive inward angulation of the distal segment of a bone or joint. The opposite of varus is called valgus. EX: Varus deformity results in a decreased Q angle of the knee joint.

Hip replacement Surgery replacing hip joint with prosthetic implant

Hip replacement is a surgical procedure in which the hip joint is replaced by a prosthetic implant, that is, a hip prosthesis. Hip replacement surgery can be performed as a total replacement or a hemi (half) replacement. Such joint replacement orthopaedic surgery is generally conducted to relieve arthritis pain or in some hip fractures. A total hip replacement consists of replacing both the acetabulum and the femoral head while hemiarthroplasty generally only replaces the femoral head. Hip replacement is currently one of the most common orthopaedic operations, though patient satisfaction short- and long-term varies widely. Approximately 58% of total hip replacements are estimated to last 25 years. The average cost of a total hip replacement in 2012 was $40,364 in the United States, and about $7,700 to $12,000 in most European countries.

Hip Anatomical region between the torso and the legs, holding the buttocks and genital region

In vertebrate anatomy, hip refers to either an anatomical region or a joint.

Slipped capital femoral epiphysis Medical condition

Slipped capital femoral epiphysis is a medical term referring to a fracture through the growth plate (physis), which results in slippage of the overlying end of the femur (metaphysis).

Hip dislocation orthopedic injury

A hip dislocation is when the thighbone (femur) separates from the hip bone (pelvis). Specifically it is when the ball–shaped head of the femur separates from its cup–shaped socket in the hip bone, known as the acetabulum. The joint of the femur and pelvis is very stable, secured by both bony and soft-tissue constraints. With that, dislocation would require significant force which typically results from significant trauma such as from a motor vehicle collision or from a fall from elevation. Hip dislocations can also occur following a hip replacement or from a developmental abnormality known as hip dysplasia.

Ball-and-socket joint Ball-shaped surface of one rounded bone fits into the cup-like depression of another bone

The ball and socket joint is a type of synovial joint in which the ball-shaped surface of one rounded bone fits into the cup-like depression of another bone. The distal bone is capable of motion around an indefinite number of axes, which have one common center. This enables the joint to move in many directions.

Femoral head ostectomy

A femoral head ostectomy is a surgical operation to remove the head and neck from the femur. It is performed to alleviate pain, and is a salvage procedure, reserved for condition where pain can not be alleviated in any other way. It is common in veterinary surgery. Other names are excision arthroplasty of the femoral head and neck, Girdlestone's operation, Girdlestone procedure, and femoral head and neck ostectomy.

Acetabular labrum

The acetabular labrum is a ring of cartilage that surrounds the acetabulum of the hip. The anterior portion is most vulnerable when the labrum tears.

Unequal leg length Medical condition

Unequal leg length is where the legs are either different lengths or appear to be different lengths because of misalignment. The condition has been estimated to affect between 40% and 70% of the population, with at least 0.1% having a difference greater than 20 mm.

Protrusio acetabuli is an uncommon defect of the acetabulum. The acetabulum is the socket that receives the femoral head to make the hip joint. The hip bone of the pelvic bone/girdle is composed of three bones, the ilium, the ischium and the pubis. In protrusio deformity, there is medial displacement of the femoral head in that the medial aspect of the femoral cortex is medial to the ilioischial line. The socket is too deep and may protrude into the pelvis.

Hip dysplasia Joint abnormality

Hip dysplasia is an abnormality of the hip joint where the socket portion does not fully cover the ball portion, resulting in an increased risk for joint dislocation. Hip dysplasia may occur at birth or develop in early life. Regardless, it does not typically produce symptoms in babies less than a year old. Occasionally one leg may be shorter than the other. The left hip is more often affected than the right. Complications without treatment can include arthritis, limping, and low back pain.

Femoroacetabular impingement Medical condition

Femoroacetabular impingement (FAI) is a condition involving one or more anatomical abnormalities of the hip joint, which is a ball and socket joint. It is a common cause of hip pain and discomfort in young and middle-aged adults. It occurs when the ball shaped femoral head contacts the acetabulum abnormally or does not permit a normal range of motion in the acetabular socket. Damage can occur to the articular cartilage, or labral cartilage, or both. The condition may be symptomatic or asymptomatic. It may cause osteoarthritis of the hip. Treatment options range from conservative management to surgery.

Index of trauma and orthopaedics articles Wikipedia index

Orthopedic surgery is the branch of surgery concerned with conditions involving the musculoskeletal system. Orthopedic surgeons use both surgical and nonsurgical means to treat musculoskeletal injuries, sports injuries, degenerative diseases, infections, bone tumours, and congenital limb deformities. Trauma surgery and traumatology is a sub-specialty dealing with the operative management of fractures, major trauma and the multiply-injured patient.

References

  1. "paleyinstitute.org - Congenital Femoral Deficiency". paleyinstitute. Retrieved 7 September 2014.CS1 maint: discouraged parameter (link)
  2. 1 2 Proximal Femoral Focal Deficiency at eMedicine
  3. Boden, SD; Fallon, MD; Davidson, R; Mennuti, MT; Kaplan, FS (1989). "Proximal femoral focal deficiency. Evidence for a defect in proliferation and maturation of chondrocytes". The Journal of Bone and Joint Surgery. 71 (8): 1119–29. doi:10.2106/00004623-198971080-00001. PMID   2777837.
  4. "Proximal Femoral Focal Dificiency".
  5. https://www.chop.edu/conditions-diseases/proximal-femoral-focal-deficiency
Classification
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