Medical genetics. Proximal femoral focal deficiency (PFFD), also known as Congenital Femoral Deficiency (CFD), 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. People with bilateral PFFD have a greater chance of having additional congenital defects in the upper limbs. Rarely there are also heart defects or cleft palate. Treatment options for PFFD depend on whether it is bilateral, unilateral, the classification, and the affect on the connected knee and ankle joint. PFFD is bilateral in about 15% of cases. On radiographic examination, the femur is shortened. The femoral head may or may not be present, depending on the degree of deficiency. There may be a radiolucency in the proximal femur, usually in the subtrochanteric region. Acronym Definition PFD Personal Flotation Device PFD Primary Flight Display PFD Program for Faculty Development (McMaste . PFD Public Facilities District (various loca . 52 more rows . февр. 23 2022Bilateral PFFD usually only requires prosthetic treatment. Children with bilateral PFFD can usually walk well on their own feet, and prostheses are only needed to bring them to the height of their peers.Surgery is not usually recommended because it would destroy the child’s ability to walk without the prosthesis.
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How common is PFFD?
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.
What causes congenital femoral deficiency?
Researchers suspect it is caused by a disruption during early prenatal development, which may occur randomly or as a result of an environmental factor such as infection or trauma. Taking the drug thalidomide during pregnancy can cause CFD and other limb deficiencies in an unborn child.
What are femoral defects?
The Paprosky classification[5] of proximal femoral defects is used to assess the amount of bone loss and define the morphology of remaining proximal femoral bone stock; it also provides guidelines for treatment. Paprosky type I defects are characterized by minimal metaphyseal cancellous bone loss with intact diaphysis.
What is congenital short femur?
Congenital short femur is a rare type of congenital malformation that occurs during prenatal development and affects the growth of the femur bone in the upper leg.
What is the prevalence of bilateral PFFD?
PFFD is bilateral in about 15% of cases. On radiographic examination, the femur is shortened. The femoral head may or may not be present, depending on the degree of deficiency. There may be a radiolucency in the proximal femur, usually in the subtrochanteric region.
What does PFFD stand for?
Congenital Femoral Deficiency (Proximal Femoral Focal Deficiency) Key Points: Proximal focal femoral deficiency (PFFD) is part of a spectrum of congenital deformities affecting the femur, more comprehensively named congenital femoral deficiency (CFD).
What is the pathophysiology of PFFD?
PFFD is a rare birth defect characterized by lack of development of the upper end of the femur (thigh bone). The typical appearance is an abnormally short thigh that is pulled upwards and rotated toward the outside.
Can a patient with bilateral PFFD walk on his own feet?
A patient with bilateral PFFD can walk comfortably and adequately on his own feet. His condition makes him a disproportionate dwarf, but in the confines of his own home he is very apt to ambulate in this manner because he is more stable and comfortable.
