Osteogenesis Imperfecta

Abstract

Osteogenesis imperfecta is an autosomal dominant disorder of connective tissue, commonly known as “brittle bone disease.” The frequency of osteogenesis imperfecta identifiable at birth is estimated to be between 1 in 20,000 and 1 in 30,000. Osteogenesis imperfecta is characterized by bone fragility; affected individuals sustain fractures after very mild trauma. Because osteogenesis imperfecta is a generalized connective tissue disorder, other typical features include blue sclerae, dentinogenesis imperfecta, hearing loss, cardiopulmonary abnormalities, easy bruisability, excessive sweating, and loose joints. Current therapeutic management is discussed.

Soluble activin receptor type IIB decoy receptor differentially impacts murine osteogenesis imperfecta muscle function

“…attributed to immobilization, secondary impacts of neurological impairment or orthopedic casting, and prolonged bed rest due to fractures. 43 To determine whether the increase in muscle mass and myofiber CSA were associated with improved muscle function, we evaluated the contractile generating force of the Sol, Gast, and TA muscles. Surprisingly, sActRIIB-mFc-treated oim/oim mice exhibited increased absolute whole muscle contractile force in Sol, Gast, and TA muscles compared with vehicle-treated counterparts, whereas WT and 1/G610C mice showed only increasing trends (Fig.…”

High Proportion of Mutant Osteoblasts Is Compatible with Normal Skeletal Function in Mosaic Carriers of Osteogenesis Imperfecta**Presented as a platform presentation at the National Meeting of the American Society of Bone and Mineral Research (Late-Breaking Research Session), San Antonio, TX, September 2002.

“…Most cases of osteogenesis imperfecta (OI), or "brittle bone disease," are caused by mutations in one of the two genes encoding type I collagen, the major structural component of the matrix of bone and skin (Byers and Cole 2002). Affected individuals have fragile bones and increased susceptibility to fractures (Marini and Chernoff 2001). Collagen mutations causing this bone dysplasia occur in two broad categories (Byers et al 1991), structural defects and quantitative defects.…”

Short-term Efficacy of Monthly Pamidronate Infusion in Patients with Osteogenesis Imperfecta

“…OI is characterized by osteopenia, multiple bone fractures, dentinogenesis imperfecta, kyphoscoliosis, joint hyperlaxity, easily bruised skin, blue sclerae, conductive hearing loss, inguinal hernia, mitral valve prolapse, and aortic insufficiency (2). Therefore, a thorough evaluation of the ear, skin, teeth, cardiovascular, and orthopedic systems is needed.…”

“…Osteogenesis imperfecta (OI) (MIM# 166200, 166220, and 259420) is an autosomal dominantly or recessively inherited disorder primarily caused by mutations of type I collagen genes; COL1A1 on chromosome 17 and COL1A2 on chromosome 7 ( 1 ). OI is characterized by osteopenia, multiple bone fractures, dentinogenesis imperfecta, kyphoscoliosis, joint hyperlaxity, easily bruised skin, blue sclerae, conductive hearing loss, inguinal hernia, mitral valve prolapse, and aortic insufficiency ( 2 ). Therefore, a thorough evaluation of the ear, skin, teeth, cardiovascular, and orthopedic systems is needed.…”

“…Bone deformities and recurrent bone fractures are the major concerns for patients with OI. The disease is classified into seven types by phenotype and mode of inheritance ( 2 , 3 ). In the milder autosomal dominant form (Type I), the patient shows minimal bone deformities, occasional fractures before puberty, blue sclerae, dentinogenesis imperfecta, and normal height.…”