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. 17 мая 2018 г. What causes congenital femoral deficiency? In many cases, the cause of congenital femoral deficiency is unknown. Contributing factors can include genetic abnormalities, exposure to drugs, chemical or viruses in utero and other medical conditions. Congenital femoral deficiency commonly appears with fibular hemimelia, a condition where the fibula, the smaller of the two shin bones, is short or absent, and the tibia is short. One in 40,000-100,000 children is born with congenital femoral deficiency.Causes of Femoral Fractures The most common causes of femur fracture are: High-speed trauma, such as a motor vehicle or motorcycle accident, a fall from a high place, or an injury during extreme or contact sports A pre-existing bone disease that weakens the bone, such as a tumor, Paget disease, bone cysts or osteoporosisThe term proximal focal femoral deficiency (PFFD) is applied to a spectrum of conditions characterized by partial absence and shortening of the proximal femora and thought to result from an early disturbance of growing mesenchyme.Most patients with mild to moderate congenital femoral deficiency/proximal femoral focal deficiency can be successfully treated with limb reconstruction and sequential limb lengthening. Initial treatment begins around the age of 18-24 months. This initial treatment consists of joint reconstruction for the hip and knee.

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 causes proximal femoral focal deficiency?

Causes of PFFD

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.

Can you be born without femurs?

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 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 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 bilateral PFFD?

Abstract. Proximal femoral focal deficiency (PFFD) is a rare skeletal dysplasia, characterized by hypoplasia of the subtrochanteric femur with variable degrees of shortening of the femoral shaft. There are numerous gene e.g. TBX4, FGF, FGFR, TP63 and HOX responsible for limb formation, type and its shape.

Where is the proximal femur?

Proximal femur includes the femoral head, neck and the region 5-cm distal to the lesser trochanter. There is a 125°–130° inclination angle between the head and neck and the femoral body. Further, there is a 15° anteversion angle between the plane passing through the condyles of the femoral head and the femur neck.

What is congenital femoral deficiency?

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.

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 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 treatment for Congenital Femoral Deficiency (CFD)?

Congenital femoral deficiency is very rare and its treatment relatively new. For this reason, few surgeons are experienced and trained to treat CFD. Surgical treatment should preferably be carried out at specialized centers with surgeons who see and treat many patients with these conditions and at centers who have…

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