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,…
Radiography The identification of osteopenia on a radiograph requires a significant, 30% or greater, loss of bone mineral. There are two general types of bone loss, and the differentiation between…
Quantitative Ultrasonography (QUS) QUS, unlike diagnostic ultrasonography, uses a transmitting and receiving transducer. Frequencies are higher than used for diagnostic ultrasonography. The measurement reflects structure and mineral content by determining…
