We reviewed clinical manifestation of 12 patients from three Korean families. They showed mild to moderate bone fragility, and suggested an autosomal dominant inheritance pattern. Significant intrafamilial phenotype variability was obvious. Clinical, radiological, and histopathologic characteristics that distinguished this subtype from others include ossification of interosseous membrane of the...

Over the past 4 years, numerous cases of osteonecrosis of the jaw in patients treated with bisphosphonates have been reported. Since 1998, children and adolescents with osteogenesis imperfecta have received bisphosphonates to increase their bone density and reduce the incidence of bone fractures. The results have been convincing, but recent reports of osteonecrosis of the jaw have caused great ...

©1996 British Editorial Society of Bone and Joint Surgery 0301-620X/96/31158 $2.00 We report a postal survey of 59 families of children with osteogenesis imperfecta. From the 51 replies we collected data on developmental milestones and walking ability and related them to the Sillence and the Shapiro classifications of osteogenesis imperfecta. Twenty-four of the patients had been treated by intr...

variety of biochemical defects in type I procollagen resulting in disruption of triple helical conformation and procollagen suicide are responsible for the clinical features(2). Some cases are autosomal recessivtf but many are new dominant mutations. A large majority of patients die in early neonatal period or infancy but the incidence in general population is kept constant as a result of new m...

Inorganic pyrophosphate can be accurately determined in 2 to 4 ml of serum or urine by an ion-exchange method. Pyrophosphate degradation by serum alkaline phosphatase and pyrophosphatase is stopped by adding to the serum 0.1 mmol of dithiothreitol (Cleland’s reagent) per liter. This method is suitable for screening large numbers of patients. All of the patients studied who had classical symptom...

Osteogenesis imperfecta is a hereditary bone dysplasia characterized by bone fragility, deformity, and short stature. Treatment focuses on preventing bone fractures and symptom relief. Pamidronate, a second-generation bisphosphonate drug that minimizes bone loss, is the chosen treatment in osteogenesis imperfecta. Radiologically, each cycle of pamidronate treatment is depicted as a line of scle...

We evaluated the efficacy of a monthly infusion of pamidronate on the frequency of fractures, biochemical effects, and bone mineral density in children with osteogenesis imperfecta. Eleven patients from 0.9 to 13.8 yr of age were included in this study. The patients were administered pamidronate intravenously (30 mg/m(2)) over a 4-hr period monthly for a period ranging from 6 to 37 months. Heig...

Osteogenesis imperfecta type I is a mild, dominantly inherited, connective tissue disorder characterized by bone fragility. Mutations in type I collagen account for all known cases. In Mov-13 mice, integration of a murine retrovirus within the first intron of the alpha 1(I) collagen gene results in a null allele blocked at the level of transcription. This study demonstrates that mutant mice het...