Kraniotubuläre dysplasia are Osteopetrosen with mild osteosclerosis with normal skeletal development.

Kraniotubuläre dysplasia are Osteopetrosen with mild osteosclerosis with normal skeletal development. Metaphyseal dysplasia (Pyle’s syndrome) In the metaphyseal dysplasia is a rare autosomal recessive disease that is conceptually often confused with the kraniometaphysealen dysplasia. Apart from the bow legs affected patients look clinically normal. Scoliosis and bone fractures can occur. The diagnosis is usually made at random, usually with X-rays, which were made for other reasons. The radiographic changes are striking. The long bones are underdeveloped and the cortical layer is generally thin. The long bones of the legs have rough Erlenmeyer flask-like growths, particularly at the distal Femurabschnitten. The pelvic and thoracic bones are enlarged. The skull bone is virtually left out. Treatment is often not necessary, but may include orthodontic treatments in dental malformations or orthopedic surgery for clinically significant skeletal deformities. Kraniometaphyseale dysplasia This autosomal dominant disorder caused by mutations in the ankylosis in the human (ANKH) Gen. It is a paranasal Buckelung developed during infancy. The progressive thickening and enlargement of the skull and mandible cause distortion of the face and jaw. Cross-bone growth narrows the cranial nerves, causing failures. The malocclusion of the teeth can cause problems. The partial closure of the sinus makes them vulnerable to permanent infection of the nose and throat area and lungs. Height and general health are normal, but the increased intracranial pressure may represent a rare but serious complication. The diagnosis is suspected in typical craniofacial anomalies, which may at times be associated with increased susceptibility to diseases of the upper respiratory tract. but it may also be that the diagnosis is made at the base of the skull in an investigation of a dysfunction of the cranial nerve due to an inclusion. Usually, a simple X-ray is taken. The change in the X-ray image is age-dependent and is usually visible in the age of 5 years. The main feature of the skull is the sclerosis. The bones have enlarged metaphyses are of club-like configuration, particularly at the lower Femurenden. Overall, the changes are much less severe than in Pyle’s syndrome. Spine and pelvis are not involved. The treatment consists of surgical decompression of the nerve and enclosed in a remodeling of severe bone changes; but recurrence may occur. Frontometaphyseale dysplasia This disease has different autosomal dominant and X-linked forms that manifest during early childhood. The supraorbital edge bead is pushed out, resembling a knight visor. The mandible is hypoplastic with anterior narrowing, dental anomalies are common. In adulthood, a numbness developed due to the sclerotic narrowing of the inner ear canal and the middle ear or deformation of the ossicles. The long bones are excessively bent. Progressive contractures of the fingers can mimic arthritis. Height and general health are normal. The diagnosis is suspected by a hearing loss in a patient with features of the previously described skeletal abnormalities. In general, X-rayed. Radiographically the excessive frontal bone growth is evident. A focal sclerosis can be seen along the Kranialgewölbes. The vertebral bodies are dysplastic, but not sclerotic. The iliac edge jumping abruptly and the pelvic inlet is deformed. The epiphyses of femur heads are flattened, increases the femoral heads themselves and deformed as in a coxa valga. The finger bones are underdeveloped, the joint space is eroded or missing. In severe, disfiguring deformities or in those that cause orthopedic problems, a surgical treatment is indicated. Hearing loss is treated with hearing aids.


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