congenital bone dysplasia
Introduction
Introduction Congenital bone dysplasia: a group of congenital hereditary systemic connective tissue diseases characterized by increased skeletal fragility and collagen metabolism disorders due to hypoplasia of mesenchymal tissue. The lesions are not limited to bones, but often involve other connective tissues such as eyes, ears, skin, teeth, etc., which are characterized by multiple fractures, blue sclera, progressive deafness, tooth changes, joint relaxation, and skin abnormalities. Such a disease is congenital and is caused by its own chromosomal abnormality. It should be noted that the disease caused by the viscera, the visceral disease, congenital bone dysplasia can be properly improved by the acquired method. Pay attention to the diagnosis, treatment and maintenance of the illness.
Cause
Cause
Mainly due to reduced osteoblast production or decreased viability, can not produce alkaline phosphatase, or both. As a result, subperiosteal osteogenesis and endochondral ossification are impeded, and bone formation is not normal. The change in histology is that the trabecular bone in the cancellous and cortical bones becomes fine and calcified, with clusters of chondrocytes, cartilage-like tissue and calcified bone-like tissue. The calcium deposits of the bones proceeded normally. The process of membrane internalization is also affected. The periosteum is thickened but the cortical bone is thin, and the lamellar structure is lacking. The Harvard lumen is enlarged. There are many fat and fibrous tissues in the bone marrow cavity. The bone is shorter than normal and the circumference is thinner. Both ends are swollen and braided. The skull is very thin, and there are scattered irregular calcifications. In severe cases, it is like a membrane bag, and the cardia is delayed. There are also lesions in the skin and sclera.
Examine
an examination
Related inspection
Chromosome fetal mirror infant measurement
(1) Joints: There are four main changes: one part of the patient may cause depression of the acetabulum and femoral head to the pelvis due to osteomalacia; 2 the intramedullary osteogenesis of the backbone may cause the bone to become thinner, but due to cartilage calcification and The cartilage osteogenesis is still normal, and the bone ends that make up the joints are relatively large; in most of the patients, there are many calcifications in the epiphysis. May be due to the non-absorption of intra-articular calcium in the process of cartilage ossification; 4 pseudo-articular joint formation, due to multiple fractures, cartilage formation at the fracture, X-ray film looks like pseudo-articular formation.
(2) Ultrasound examination: The fetal skeletal system can detect congenital bone development disorders early. The experience of Garjian et al. shows that three-dimensional ultrasound can obtain stereoscopic anatomical positioning, so it is superior to two-dimensional ultrasound examination, and the former is more likely to find deformities of the head, face and ribs.
(3) You can check whether there is a family-style genetic disease, whether there is abnormal gastrointestinal disharmony, abnormal bone development caused by abnormalities of the digestive system, and there is a relationship with the genetic factors of the disease. It is very important to check the function of blood, urine, liver and kidney to see if there is any abnormality in the heart and lungs.
Diagnosis
Differential diagnosis
Attention should be paid to the identification of various complications caused by congenital bone dysplasia. Physical examination and chromosome examination can be diagnosed. Clinical manifestations combined with X-ray examination, except for Perthes disease dysplasia can be diagnosed, the ratio of the distal femoral epiphysis height to the metaphyseal width is abnormal in most children, this index is valuable for early diagnosis, X with fibrous fibrous dysplasia Line performance, skin Cafe-au-lait point, with endocrine or non-endocrine abnormalities.
