Fibrodysplasia Ossificans Progressiva
The gene mutation for patients with classic FOP is located on chromosome 2q23-24, a locus that includes the activin A type I receptor gene. Bone morphogenetic proteins (BMPs) are extracellular…
Paget Disease of Bone (Continued)
When patients with Paget disease are immobilized, such as for surgery, hypercalcemia may result. Other conditions that have been associated with hypercalcemia in patients with Paget disease include fractures, hyperparathyroidism,…
Pathophysiology and Treatment of Paget Disease of Bone
Although intravenous pamidronate has been available and efficacious, the requirement for a prolonged intravenous infusion over 4 hours for 3 consecutive days inhibits its use. Zoledronic acid, a nitrogen-containing bisphosphonate,…
Paget Disease of Bone
Paget disease of bone is a localized skeletal disorder that is characterized by an increased number of osteoclasts that are large in size and contain multiple nuclei. These osteoclasts exhibit…
Osteopetrosis (Albers-Schönberg Disease)
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…
Ehlers-Danlos Syndromes (Continued)
Management of EDS disorders is directed at preventative care and supportive therapy. In general, individuals with EDS should not participate in contact sports or heavy exercise. Non–weight-bearing exercise is encouraged,…
Ehlers-Danlos Syndromes
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…
Marfan Syndrome (Continued)
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…
Marfan Syndrome
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…
Osteogenesis Imperfecta Type III
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…
