What causes proximal femoral focal deficiency?

Proximal Femoral Focal Deficiency is a congenital condition caused by a defect in the primary ossification center of the proximal femur that may present with an absent hip, femoral neck pseudoarthrosis, absent femur, or a shortened femur. 14 июн. 2021 г. netterimages.comИзображение:netterimages.comThe causes of proximal femoral focal deficiency remain largely unknown and the disorder does not appear to be genetically linked. In most cases, researchers suspect PFFD is caused by a disruption during early prenatal development, which can be caused randomly or as a result of an outside force such as an infection or trauma. Practice Essentials Proximal femoral focal deficiency (PFFD) is an uncommon problem, with an incidence ranging from 1 case per 50,000 population to 1 case per 200,000 population. [ 1] It is commonly grouped with fibular hemimelia and tarsal coalition in the general category of postaxial limb hypoplasia (PALH).Congenital femoral deficiency (CFD) refers to a spectrum of congenital (present at birth) malformations of the thigh bone (femur) due to incomplete or abnormal development. CFD may affect one leg (most commonly) or both legs. Severity can range from minor shortening of the femur (appearing normal), to complete absence of much or all of the femur.

Is proximal focal femoral deficiency genetic?

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.

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.

How common is congenital femoral deficiency?

CFD is a rare condition; one or two out of every 100,000 children are affected. Congenital femoral deficiency can affect one side of the body, or both.

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 proximal focal femoral deficiency?

Proximal focal femoral deficiency (PFFD) is part of a spectrum of congenital deformities affecting the femur, more comprehensively named congenital femoral deficiency (CFD). CFD may range from simple shortening of a normal-appearing femur to the complete absence of the proximal two-thirds of the bone.

What is the incidence of femoral femoral deficiency in the US?

The incidence of proximal focal femoral deficiency is on the order of 1-2 per 100,000 live births 4.

What are the causes of femoral deformity?

Such injuries may be caused by ischemia, hypoxia, irradiation, microbiological agents, toxins, hormones, mechanical and thermal injury. Thalidomide has been demonstrated to be a definite cause of femoral deformity in humans. PFFD is a distinct subset of CFD where the deficiency is mainly proximal.

What is congenital congenital deficiency of the femur?

Congenital deficiency of the femur (CFD) is a spectrum of disorders which includes proximal focal femoral deficiency (PFFD), coxa vara, hypoplastic and congenital short femur. (Morrissy, 2006; Gillespie, 1983; Aitken, 1969; Epps, 1983; Paley, 2006; Lee, 2104) This text will focus on the PFFD component of CFD.

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