Brittle bone disease

Brittle bone disease, or osteogenesis imperfecta (01), is caused by mutations or absence of one of the genes encoding type I collagen chains, which interferes with assembly and function of the triple helix. 

Congenital diseases (diseases present at birth) of connective tissne (a group of tissues of the body which includes bone) can cause abnormalities of bone structure, and therefore osteoporosis. Such diseases include osteogenesis imperfecta (brittle bone disease) and Marfan syndrome. 

Mutations that interfere with collagen fiber formation mostly cause lethal or nonlethal osteogenesis imperfecta, also known as brittle bone disease. The bones break easily and apparently spontaneously. The disorder occurs in about one in 50,000 live births in the US. Osteogenesis imperfecta is clinically divided by whether the teeth are also affected. They may appear opalescent blue-gray or yellow-brown because of abnormal dentin calcification. 

Two hypothetical conditions, each with the label of temporary brittle bone disease , are to be found in the medical literature and maybe offered in court as an explanation for unexplained fractures. The first described by Paterson et al. (1993) is believed by the authors to be the result of a temporary collagen synthesis defect, possibly as a result of copper deficiency or another metalloenzyme deficiency. The second, proposed by Miller and Hangartner (1999), is supposedly the result of intrauterine confinement causing a temporary defect in mineralisation. There is little scientific basis to justify the existence of either of these conditions (Chapman and Hall 1997 Mendelson 2005). 

Ablin DS, Sane SM (1997) Non-accidental injury confusion with temporary brittle bone disease and mild osteogenesis imperfecta. Pediatr Radiol 27 111-113... 

Mendelson KL (2005) Critical review of temporary brittle bone disease . Pediatr Radiol 35 1036-1040 Merten DF, Carpenter BL (1990) Radiologic imaging of inflicted injury in the child abuse syndrome. Pediatr Clin North Am 37 815-837... 

The advent of new noninvasive Raman spectroscopic techniques promises to have a significant impact on many biomedical, security, and industrial analytical applications. Many new exciting practical applications are already emerging including aviation security and pharmaceutical quality control, and others are under intense development. The latter include the diagnosis of diseases such as osteoporosis, brittle bone disease, breast cancer, and monitoring of glucose levels noninvasively. 

---