Craniotubular dysplasia. Craniotubular hyperostosis
Craniotubular dysplasias include minimal osteosclerosis with normal skeletal modeling.
On the face draw attention to the projecting superciliary arches, reminiscent of the visor of a knightly helmet. The lower jaw is hypoplastic with narrowing in front; anomalies of the teeth are often noted. Deafness develops in adult patients, as sclerosis narrows the internal auditory foramen and the middle ear cavity. The long bones of the legs are moderately curved. Progressive finger contractures can simulate RA. Growth and overall health are normal.
On the roentgenogram, there are bone growths in the forehead; sclerosis areas are noted in the region of the cranial vault.The vertebral bodies are dysplastic, but without signs of sclerosis. The crests of the iliac bones are sharply enlarged, the deformation of the entrance to the pelvis is noted. The femur epiphyses are flattened, with the expansion of the femoral heads and the formation of the femur in the varus position. There is a lack of modeling of the bones of the fingers with erosions and narrowing of the intra-articular crevices. Corrective operations are indicated for severe deformities or for orthopedic problems.
Craniotubular hyperostosis is an overgrowth of bone tissue that changes bone contour and increases bone density.
Endosteal hyperostosis. Endosteal hyperostosis is usually inherited in an autosomal recessive manner. Overgrowth and deformation of the lower jaw and eyebrows become apparent in children of primary school age. Subsequently, cranial nerves are infringed, which leads to facial nerve paresis and deafness. Life expectancy is not reduced, the growth is normal and the bones are not fragile. On the radiograph visible expansion and sclerosis of the cranial vault, base of the skull and lower jaw.
Metafizarnaya dysplasia.This rare autosomal recessive disorder is often confused in its meaning with the cranio-metaphysial dysplasia. Patients with this disease are clinically normal, with the exception of the valgus knee, although scoliosis and bone fragility are sometimes noted.
The diagnosis is usually made on the basis of radiographs, carried out for other reasons. Bright radiographic changes are noted. Modeling of long bones is inadequate, and cortical bone plates are usually thin. There is a marked expansion of the Erlenmeyer conical flasks in the tubular bones of the legs, especially in the lower sections of the femur. The pelvic bones and rib cage are dilated. At the same time, the bones of the skull are usually normal.
Craniometaphysary dysplasia.In this case, an autosomal dominant disease in infancy produces mounds in the paranasal region, as well as progressive expansion and thickening of the bones of the skull and lower jaw, which leads to deformation of the face and jaw. Deformed bones infringe the cranial nerves, causing their dysfunction. Malocclusion can be problematic; partial sinus obliteration predisposes to recurrent infections of the upper respiratory tract.Growth and overall health are normal, but a rare, serious complication is the progressive increase in intracranial pressure.
Radiographic changes depend on age and are usually evident by age 5. Sclerosis is the main sign of changes in the skull. In the long bones, there is an expansion of the metaphyses, which looks like clavate enlargements, especially in the distal parts of the femurs. However, these changes are significantly less pronounced than in Pile's disease. The spine and pelvic bones are not affected.
Frontometafizarnaya dysplasia.This disease has separate autosomno-dominant and X-linked endost of tubular bones thickened. Surgical decompression of the strangulated nerves may be effective.
Sclerosteosis.Sclerosteosis, an autosome-but-recessive hereditary disease, is most common among Afrikaners of South Africa. The growth and sclerosis of bones, especially the skull, develop in early childhood. Height and weight are usually excessive. Initial symptoms and signs may include deafness and paresis of the facial nerve due to cranial nerve infringement.Deformation of the face, appearing about 10 years, sometimes becomes severe. Skin or bone syndactyly of the 2nd and 3rd fingers distinguishes osteosclerosis from other forms of craniotubular hyperostosis. The predominant changes on the radiograph are a marked expansion and sclerosis of the cranial vault and lower jaw. The bodies of the vertebrae are not changed, although their processes are dense. There are sclerotic changes in the pelvic bones, but their contours are normal. Cortical plates of long bones with signs of sclerosis, giperostoz, diaphysis modeling insufficient. Surgery to reduce intracranial pressure can be effective.
Diaphyseal dysplasia.Diaphyseal dysplasia, an autosomal dominant disease, is manifested in junior school age by muscle pain, weakness and a decrease in muscle mass, mainly on the legs. These symptoms usually go away by age 30. Sometimes compression of cranial nerves and increased intracranial pressure develop. Some patients are deeply disabled; other symptoms are virtually absent. The predominant changes on the radiograph are a pronounced thickening of the periosteal and medullary surfaces of the cortical plates of the diaphysis of the long bones,however, variations vary. Bone cavity and external contour of bones are uneven. Limbs and axial skeleton usually not changed. The defeat of the skull is rare, with the expansion of the bones of the cranial vault and the sclerosis of the skull base bones. Glucocorticoids can help relieve bone pain and improve muscle strength.
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