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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.
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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
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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;
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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. Histologic studies of a fetus with unilateral PFFD have prompted an alternative hypothesis
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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
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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
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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
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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.
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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).
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that PFFD is caused by a defect in maturation of chondrocytes (cartilage cells) at the growth plate. In either hypothesis, the agent causing the injury is usually not known.
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deformities also have acetabular dysplasia, a condition in which the acetabulum (hip socket) is shallow, abnormally shaped, and oriented outward.
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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
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In some cases the patient may not request treatment and instead elect to use a wheelchair or other aids to assist mobility.
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There are typically four classes (or types) of PFFD, ranging from class A to class D, as detailed by Aitken.
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during pregnancy may also be a cause. Other etiologies that have been suggested, but not proven, include
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of the foot or part of the leg, lengthening of the femur, extension prosthesis, or
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proximal femur (lower part near the knee) will not connect with the femoral head.
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Depending on the severity of the deformities, the treatment may include the
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Boden, SD; Fallon, MD; Davidson, R; Mennuti, MT; Kaplan, FS (1989).
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It is commonly linked with the absence or shortening of a leg bone (
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instead the pelvic wall is flat on the affected side.
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309:"paleyinstitute.org - Congenital Femoral Deficiency"
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471:Congenital disorders of musculoskeletal system
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271:. Amputation usually requires the use of
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359:The Journal of Bone and Joint Surgery
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283:In less severe cases, the use of an
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407:"Proximal Femoral Focal Deficiency"
393:"Proximal Femoral Focal Dificiency"
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337:Proximal Femoral Focal Deficiency
71:Proximal femoral focal deficiency
22:Proximal femoral focal deficiency
371:10.2106/00004623-198971080-00001
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79:Congenital Femoral Deficiency
30:Congenital Femoral Deficiency
275:. Another alternative is a
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44:13-year-old girl with PFFD
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318:7 September
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27:Other names
295:References
273:prosthesis
265:amputation
342:eMedicine
212:does not
193:Treatment
164:Diagnosis
154:infection
150:radiation
50:Specialty
465:Category
158:hormones
146:ischemia
379:2777837
233:removed
218:sources
113:kneecap
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142:anoxia
138:toxins
127:Causes
121:fibula
94:pelvis
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449:Q72.4
117:tibia
98:femur
375:PMID
320:2014
216:any
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75:PFFD
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