"Both forms of osteopetrosis (autosomal recessive and autosomal dominant) are congenital abnormalities with localised chromosomal defects. In autosomal recessive osteopetrosis, the defect is located on chromosome 11q13."
"autosomal dominant osteopetrosis (bone-within-a-bone appearance is AD)"
Expected headings
"Associations"
"One of the commonest presentations is with ocular disturbance: failure to establish fixation, nystagmus or strabismus 4. The cause of these symptoms is compression of the cranial nerve roots because of foraminal overgrowth and hence, symptoms tend not to regress despite treatment. Other cranial nerves and foramina may be affected:"
"overgrowth of the cranial nerve foramina resulting in compression (progressively affects the optic, oculomotor, facial and vestibulocochlear nerves) 4"
"There are defective osteoclast function and overgrowth of bone: which become thick, dense and sclerotic. However, their increased size does not improve their strength. Instead, their disordered architecture results in weak and brittle bones that result in multiple fractures with poor healing."
"There are defective osteoclast function and overgrowth of bone: which become thick, dense and sclerotic. However, their increased size does not improve their strength. Instead, their disordered architecture results in weak and brittle bones that result in multiple fractures with poor healing."
"The only curative approach is allogeneic bone marrow transplantation. There are encouraging signs that the use of high dose, highly T-lymphocyte depleted, parental marrow or peripheral blood stem cell transplants can improve outcome for those lacking a family donor 4."
"sclerotic bone demonstrated low signal intensity on both T1 and T2-weighted MR images; areas containing marrow have intermediate signal intensity"