The most severe form of osteopetrosis is the congenital malignant form, which is inherited as an autosomal recessive disorder. Children usually present with recurrent infections and episodes of hypocalcemia, small…
The birth prevalence of the EDS is about 1 in 5000 births, although this is likely an underestimate, particularly of milder forms. One commonly used classification recognizes six EDS types…
The clinical management for persons with MFS requires multidisciplinary care. Evaluations by multiple specialists are recommended once a diagnosis is made, including detailed evaluations by an ophthalmologist, cardiologist, orthopedist, and…
The prevalence of MFS is about 1 : 5,000 to 1 : 10,000 persons, with no enrichment in particular ethnic or racial groups or by gender. It is caused by…
Few cases of OI due to mutations in genes coding for proteins that modify or chaperone newly synthesized intracellular type I collagen are described to date. Thus far, most affected…
Overall, OI occurs with a prevalence of approximately 1 in 15,000 to 20,000 births. Cases due to mutations of the CO1A1 or COL1A2 genes occur in an autosomal dominant manner;…
EVALUATION FOR SECONDARY OSTEOPOROSIS Evaluation of patients requires attention to possible secondary causes for low bone mass. Individuals with low bone mass may have diseases or take medications that may…
Hip Pads and Other Assistive Devices. Hip protectors have been shown to prevent hip fractures in compliant subjects at significant risk of falling. An observational study in nursing homes using…
Operative Management Two percutaneous treatment options for painful vertebral compression fractures—vertebroplasty and kyphoplasty—involve the injection of polymethyl methacrylate (PMMA) into a compressed vertebral body. Studies show that the procedures may…
Histologic Analysis of Undecalcified Bone. Because the differentiation between the two major metabolic bone diseases, osteoporosis and osteomalacia, is based in part on the quantity and quality of bone mineral,…
