congenital absence of tibia
Introduction
Introduction to congenital absence of the humerus Congenital absence of the humerus is a longitudinal defect of the limb and is clinically rare. Often accompanied by ipsilateral femoral dysplasia, femoral repeat deformity and ankle bone bridge and other malformations. Congenital absence of the humerus is a longitudinal defect of the limb. It is rare in clinical practice and the cause is unknown. It may be caused by defects in embryonic development. basic knowledge The proportion of illness: 0.001% Susceptible people: children Mode of infection: non-infectious Complications: swelling
Cause
Congenital absence of the tibia
Causes:
Congenital absence of the humerus is a longitudinal defect of the limb, which is rare in clinical practice and the cause is unknown. It may be a defect in embryonic development. According to Bardenheuer, at the beginning of the embryo, a main line and 4 feeding lines occur. The femur, the tibia, the 2 tibia and the fifth toe are generated from the main line, and the tibia and other foot bones are generated from the lateral line. It is said that the congenital humeral defect is caused by the incomplete occurrence of the first lateral line. Generally, I agree with the internal cause. Joachimstahl advocates the compression of the amniotic membrane during the fetus.
Pathogenesis:
(1) Congenital absence of the humerus: the position of the humerus is replaced by a fibrous connective tissue cord, sometimes with a cartilage small nodule attached to the joint capsule at the upper end. The tibia can be slightly shorter, the thickness can be normal, thickened, flattened or forward. The inner side is curved. The femur can also have different changes. The upper end of the humerus is obviously out of the upper part. It is rare that the humerus is forward, located in the femoral smear or dislocated to the medial femur. If it is dislocated backward, it protrudes in the armpit. The lower end protrudes from the outer edge of the foot. The foot is varus deformed, and the sacral bottom is upward. The lower end of the humerus can form a joint with the talus or calcaneus. The femur is atrophied and shortened. The femoral condyle becomes smaller, spherical or flat or without intercondylar fossa. It is rare to have a bifurcation. The tibia is sometimes deficient or atrophic, or dislocated to the lateral side, or with the humerus and joint capsule. There are also cruciate ligaments and meniscus defects.
Sometimes there are multiple toes, cake toes, and the first metatarsal bone defect. The tibia may be deformed. The hand may also be deformed.
The muscles on the lateral side of the tibia may have atrophy or fatty changes. The origin of the tibia muscle is attached to the joint capsule. The humerus and the calf fascia. Foot muscle attachment points are also often changed.
(2) Congenital absence of the humerus: Most of the lower end of the humerus is absent. At this time, the knee joint is normal and the humerus is straight, but it can also be curved. Thickening, external sacral protrusion. There are also the lower end of the humerus and the anterior angulation. The foot is varus deformed. The upper end of the humerus is rare, and the middle part is less likely to be different. It must be distinguished from the humeral pseudo joint.
Carraro pointed out that the so-called skeletal dysplasia is markedly weak, shortened, and has varus.
Prevention
Congenital absence of humerus
The disease is a congenital disease, no effective preventive measures, good prenatal examination, early diagnosis and early treatment is the key to the prevention and treatment of this disease.
Complication
Congenital humerus lack of complications Complications swelling
Often accompanied by ipsilateral femur proximal dysplasia, femoral repeat deformity and ankle bone bridge and other malformations.
Symptom
Symptoms of congenital absence of the humerus Common symptoms The proximal end of the femur is widened and cannot be deformed and varused
Kalamchi et al. divided them into three types according to clinical and X-ray findings. Type I is completely absent of the humerus, mainly characterized by shortening of the lower leg and bending deformity; occasional absence of the medial column of the humerus, knee flexion contracture The humeral head is moved up and the distal femur is dysplastic; type II is absent at the distal end of the humerus, and the proximal humerus and distal femur are well developed, thus retaining the knee function, but having the proximal humerus posterior and Mild flexion contracture of the knee joint; type III only developed distally of the humerus, characterized by separation of the ankle joint, varus and lateral malleolus.
Examine
Congenital examination of the absence of humerus
The X-ray manifestations of this disease are characteristic, that is, the lack of tibia in different parts is easier to make a correct diagnosis.
Diagnosis
Diagnosis and diagnosis of congenital sacral defect
For patients with distal humerus, it is necessary to identify with congenital clubfoot in infancy. Congenital clubfoot is a common congenital foot deformity. It is composed of three major malformations: foot drop, varus and adduction. Later, the horse's hooves, varus, internal rotation, forefoot adduction, varus, high bow are the main manifestations of malformed diseases. Males have more morbidity, which can be unilateral or bilateral. Abnormal shape, can be found at birth, so negligent cases are less common, more early treatment, the effect is better, but the deformity is also easy to relapse, should be followed up regularly until the bones mature, about 14 years old. The cause is still unclear. Congenital clubfoot has no special medication.
