Fractures of osteogenesis imperfecta

Genetic hereditary connective tissue disease or congenital pathogenic factors, from a variety of sites. The incidence of high and low below. (1) mild to moderate change, with blue sclera: autosomal dominant inheritance. (2) is very serious, and deformities of the dwarf, Danlan sclera, or white: sporadic, may be for the new mutation. (3) similar to (1), but for the white sclera: autosomal dominant inheritance. (4) serious congenital and perinatal mortality: autosomal recessive genetic. (5) similar to (1), but for the autosomal recessive genetic (which may be only 2% of all cases). Morbidity at birth that can discoverer of the birth of two children per 10,000 1. To permit patients (indexpatients) in the crowd in the incidence Rate is about 16 parts per million (including the involvement of relatives of 34 parts per million). [Clinical] Face big, bulging out on both sides of the temporal bone, face and a small triangle, more than 90 percent of patients in blue sclera, teeth and was not the entire Blue Grey or brown. Normal intelligence. Is of no small at birth, although several fractures, overlapping or incarcerated, to be physically shorter. Infant may show different degrees The short deformity. Symptoms at birth or during infancy that is, see how the fracture, blue sclera, teeth abnormalities, but also relaxation of the festival, sweating and body temperature anomalies, Subcutaneous bleeding, physical scars, and constipation and respiratory difficulties such as 40-year-old may occur after the dizziness, tinnitus and hearing loss. This shows that God is still a hub The early involvement and joint degeneration symptoms. Malformation more from fractures caused by abnormal healing, coupled with joint contracture, osteoporosis and may also be softening due to factors such as long bone bending, flat After the sudden and spinal vertebrae, pelvic trilobal, Chen Shui-bian skull base; about 1 / 3 of the patients have scoliosis, may also have chest deformity, big, on both sides of the temporal Bone, and so sudden and triangular face. Merger abnormal universal joints relax, hernia, platelet abnormalities and increased capillary fragility, easy bleeding, scar constitution, formation of teeth Incomplete, because the inner ear and the ossification of fibrous tissue in deafness, and some can be formed after the fracture in the joint leave (pseudoarthrosis), but also in After the surgery or fracture callus proliferation bone formation, or tumor-like bone callus tumoralcallus), Posi osteosarcoma or lipoma. [X-ray: Skull on both sides of the temporal bone protruding outward, causing the pitch up, frontal and expand the mastoid sinus often, multiple bone Feng Jian, the thinning of the plate Spinal normal at birth, childhood can see clearly osteoporosis and softening performance, such as the vertebral flat or double-Au vertebra was changed, about 40% The spine can occur in children with Cehou process, and gradually increase. Thoracic ribs can be thin, can also be widened, and a number of fractures, coupled with soft rib bone and spine Cehou process, the thorax may There are various distortions deformity, or even affect heart and lung function. Because osteoporosis pelvis, softening, in the process on both sides of the acetabulum, sacral sink, resulting in the pelvis was like a narrow triangle or clover. Shame , Ischium can have compression fractures, often slip femoral head deformity, also visible pelvic wall soft tissue vascular calcification.