Pycnodysostosis: a distinctive brittle bone disease?

Brittle Bone Disease (Osteogenesis Imperfecta)

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...

The death of temporary brittle bone disease is premature.

Osteogenesis imperfecta, non-accidental injury, and temporary brittle bone disease.

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, non-accidental injury, and temporary brittle bone disease

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...

Temporary brittle bone disease versus suspected non-accidental skeletal injury.

Temporary brittle bone disease has been proposed again as an alternative explanation for suspected non-accidental injury. This is still not considered a real entity by mainstream opinion. The recent publications remind us to look carefully for alternative explanations and to investigate for predisposing bone disorders thoroughly.