www.thelancet.com Published online August 6, 2013 http://dx.doi.org/10.1016/S0140-6736(13)61531-7 1 Children and adolescents with osteogenesis imperfecta have numerous fractures, often after what would otherwise seem trivial trauma. Even in mild disease, the risk of breaking a long bone (femur, tibia, fi bula, humerus, radius, or ulna) is about 100 times higher than in the general population. A...

The correct distinction between osteogenesis imperfecta and non-accidental injury (NAI) is an emotive subject upon which the fate of a child can depend. It has been the subject of strongly worded papers and letters by experts. 1-5 Although the frequency, clinical features, and skeletal effects of NAI are not in question, much new knowledge on osteogenesis imperfecta has bypassed the general pae...

Osteogenesis imperfecta is a rare inherited disorder of connective tissue which may present with recurrent fractures which are prone to nonunion and malunion resulting in deformity. Some patients develop osteoarthritis of the hip. Formation of hyperplastic callus after recurrent fractures may deform the shape of the femur and preclude the use of standard implants at joint replacement. Replaceme...

Osteogenesis imperfecta is a clinically heterogenous disease caused by defective collagen syntesis associated with a mutation in the COL1A1 or COL1A2 genes. In this report, we present a case of osteogenesis imperfecta (OI) type IV, seen in a female fetus with incurved femurs at 18 weeks of gestation. Molecular analysis of the newborn revealed a novel mutation at position c.560 (c.560 G > T) of ...

The osteoporosis-pseudoglioma syndrome (MIM 259770) is a rare autosomal recessive disorder in which bone fragility and frequent fractures are associated with serious ocular changes. The skeletal manifestations resemble those of osteogenesis imperfecta while hyperplasia of the vitreous, eye and corneal opacities often mimics the appearance of intraocular glioma. This disorder was previously repo...

Increasing attention has been directed towards operative rib fixation of traumatic flail chest; reported benefits include more rapid weaning from the ventilator, decreased intensive care unit stays, decreased complications and improved functional results. The outcomes of this surgical intervention in patients with osteogenesis imperfecta, a rare condition characterized by low bone density and b...

Brittle bone disease (Osteogenesis imperfecta first defined by McKusick in 1956, is a disease that causes extremely fragile bones. It is a (OI)), congenital disease meaning that it is present during birth. It is often caused by a defect in the gene that produces type I collagen an important building block of bone and the most abundant protein found in the body. This gene can be affected in many...

A case of a 40-year-old man with dehiscence of the prosthetic aortic valve and recurrence of mycotic aneurysm of the left ventricular outflow tract with osteogenesis imperfecta is presented. He had an operation of aortic valve replacement and direct closure of the mycotic aneurysm for infective endocarditis twenty-one months ago. We performed reoperation of prosthetic aortic valve, patch closur...