Bone brittle
Introduction
Introduction Fragliilisosium (also known as Osteogenesis Imperfecta), primary bone fragility (idiopathicosteopsathyrosis) and periosteal dysplasia (periostealdysplasia). It is characterized by fragile bone, blue sclera, deafness, and joint relaxation. It is a congenital hereditary pain caused by hypoplasia of mesenchymal tissue and collagen formation. The cause of the disease is unknown and it is a congenital developmental disorder. Male and female morbidity rates are equal. Because the disease is generally serious, taking appropriate measures to prevent the disease is the key.
Cause
Cause
The cause is unknown and it is a congenital developmental disorder. Male and female are equal. Can be divided into congenital and delayed hair. Congenital type refers to the onset in the uterus, and can be divided into fetal and infant types. The condition is severe, mostly death, or death shortly after delivery. It is an autosomal recessive inheritance. The delayed type is milder and can be divided into a child type and an adult type. Most patients can survive for long periods of time and are autosomal dominant. More than 15% of patients have a family history.
Examine
an examination
Related inspection
Bone and joint plain bone density determination of calcitonin and calcitonin bone imaging
Based on the patient's clinical features combined with X-ray examination, it is not difficult to make a diagnosis. Prenatal diagnosis relies on ultrasound, radiology, genetic analysis of amniotic fluid and villus. Blood calcium and phosphorus were normal, alkaline phosphatase was normal or slightly elevated, plasma insulin-like growth factor (IGF) was normal, and proline was in the normal range.
X-ray examination: 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 cartilage The internal osteogenesis is still normal, and the bone ends that make up the joints are relatively large; in most of the patients, there are most calcifications in the epiphysis. May be due to the non-absorption of intra-articular calcium in the cartilage osteogenesis; 4 pseudo-articular formation, due to multiple fractures, cartilage formation at the fracture, X-ray film looks like pseudo-articular formation.
Diagnosis
Differential diagnosis
Central calcification: central chondrosarcoma can be characterized by blurred border osteolysis, with or without cortical bone disruption. Because cartilage tends to be calcified and ossified, X-ray areas can appear in the tumor, and calcification often occurs in cartilage lobule There is no structure around. It is characterized by irregular hazy particles, nodules or X-ray opaque rings.
Long bone epiphyseal calcification: cartilage ectodermal dysplasia syndrome, also known as Ellis-van Creveld congenital malformation syndrome, congenital cartilage calcification disorder heart disease syndrome, cartilage ectodermal dysplasia syndrome and other health searches, is autosomal recessive Hereditary diseases, characterized by short-legged dwarfs, often have congenital heart disease and mental retardation. The newborn baby is in a dwarf state. For example, the long bones of the limbs are short and thick, the distal fingers (toes) are particularly small, and multiple fingers (toes) can appear, hair and teeth develop poorly, and the long bones of the whole body are incompletely calcified.
Ectopic calcification: a pathological term. Also known as heterotopic ossification. In addition to normal physiological calcification, calcium deposits occur outside of bone tissue. This change usually occurs at the tendon attachment of the bone, ligaments, blood vessel walls, bone fascia, and the like. Calcium ions are precipitated from the skeletal system and often lead to osteoporosis. Therefore, some scholars advocate ectopic calcification as an indirect sign of osteoporosis.
