Femur Fibula Ulna Syndrome
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Femur Fibula Ulna Syndrome
Femur-fibula-ulna syndrome (FFU syndrome) is a very rare syndrome characterized by abnormalities of the femur (thigh bone), fibula (calf bone) and the ulna (forearm bone). There have been suggestions that FFU complex may be the same as proximal femoral focal deficiency (PFFD) although authors are currently in disagreement over whether or not the disorders are in fact separate. The breadth of the abnormality and number of limbs involved is considered sporadic although upper limbs are more affected than lower limbs and right side malformation is more prevalent than the left. The condition was first noted by Lenz and Feldman in 1977. See also * Proximal femoral focal deficiency 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 ... * Van De Berghe Dequeker syndrome References External ...
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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 (left and right) femurs are the strongest bones of the body, and in humans, the largest and thickest. Structure The femur is the only bone in the upper leg. The two femurs converge medially toward the knees, where they articulate with the proximal ends of the tibiae. The angle of convergence of the femora is a major factor in determining the femoral-tibial angle. Human females have thicker pelvic bones, causing their femora to converge more than in males. In the condition ''genu valgum'' (knock knee) the femurs converge so much that the knees touch one another. The opposite extreme is ''genu varum'' (bow-leggedness). In the general populatio ...
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Fibula
The fibula or calf bone is a leg bone on the lateral side of the tibia, to which it is connected above and below. It is the smaller of the two bones and, in proportion to its length, the most slender of all the long bones. Its upper extremity is small, placed toward the back of the head of the tibia, below the knee joint and excluded from the formation of this joint. Its lower extremity inclines a little forward, so as to be on a plane anterior to that of the upper end; it projects below the tibia and forms the lateral part of the ankle joint. Structure The bone has the following components: * Lateral malleolus * Interosseous membrane connecting the fibula to the tibia, forming a syndesmosis joint * The superior tibiofibular articulation is an arthrodial joint between the lateral condyle of the tibia and the head of the fibula. * The inferior tibiofibular articulation (tibiofibular syndesmosis) is formed by the rough, convex surface of the medial side of the lower end of the f ...
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Ulna
The ulna (''pl''. ulnae or ulnas) is a long bone found in the forearm that stretches from the elbow to the smallest finger, and when in anatomical position, is found on the medial side of the forearm. That is, the ulna is on the same side of the forearm as the little finger. It runs parallel to the radius, the other long bone in the forearm. The ulna is usually slightly longer than the radius, but the radius is thicker. Therefore, the radius is considered to be the larger of the two. Structure The ulna is a long bone found in the forearm that stretches from the elbow to the smallest finger, and when in anatomical position, is found on the medial side of the forearm. It is broader close to the elbow, and narrows as it approaches the wrist. Close to the elbow, the ulna has a bony process, the olecranon process, a hook-like structure that fits into the olecranon fossa of the humerus. This prevents hyperextension and forms a hinge joint with the trochlea of the humerus. There is ...
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Proximal Femoral Focal Deficiency
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. 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. 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 ...
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Proximal Femoral Focal Deficiency
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. 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. 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 ...
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Van De Berghe Dequeker Syndrome
Van Den Berghe Dequeker syndrome, also known as ulnar hypoplasia-split foot syndrome is a very rare congenital limb malformation syndrome which is characterized by severe ulnar hypoplasia, absence of the index to pinky finger in both hands, and split-foot. Original Discovery It was first discovered in 1978 by H van de Berghe et al., when they described four males (consisting of three brothers and one maternal nephew) of a two-generation family with a "lobster-claw foot" and an "ulnar defect". The lobster-claw architecture of the foot is described as the I and V toes being the only ones developed, resulting in the appearance of a split-foot. Morphology of the ulnar defect ranged from a shortened ulna to complete absence of the ulna with a curved, thickened radius. Van de Berghe et al. also noticed that some female members (the mother and maternal aunt of an affected male) showed minor hypoplasia and slight deformations of the toes, as well as shorter ulnas and marginally curved ...
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Congenital Disorders
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be vi ...
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